PMID	CR	aberrant change	cancer	sentence	upstream	relation to CR	sentence	partner	relation to CR	sentence	downstream	relation to CR	sentence
27416733	ACTA1	underexpression	Lip and Oral Cavity Carcinoma	Low expression of ASMA in stromal vessels and a strong tumor invasion front were significantly associated to tumor recurrence (P=0.024 and P=0.004, respectively)									
26950277	ACTA1	underexpression	Lung Adenocarcinoma	Activin A (ActA)/follistatin (FST) signaling has been shown to be deregulated in different tumor types including lung adenocarcinoma (LADC).									
25921136	ACTA1	overexpression	Papillary Carcinoma	ASMA was not expressed in benign papillary hyperplastic lesions while it was expressed in papillary carcinoma, indicating that tumors have modulated stroma.									
22846364	ACTA1	underexpression	Buccal Mucosa Verrucous Carcinoma	The down-regulation of four of these transcripts MYL1, ACTA1, TCAP and DESMIN in buccal cancer were further supported by quantitative PCR signifying its possible implication in the cancer progression									
22558481	ACTA1	aberrant expression	Adenoid Cystic Carcinoma	Immunohistochemically, the tumor cells were positive for cytokeratin (CK) AE1/3, CK34BE12, CK5/6, CK7, CK14, p63, alpha-smooth muscle actin (ASMA), S100 protein, p53, Ki-67 (labeling 85%), KIT, PDGFRA and CD56.									
21725291	ACTA1	aberrant expression	Cutaneous Myoepithelial Tumor	Immunohistochemically, all cases tested were positive for EMA and calponin, whereas S100, CK, ASMA and GFAP were expressed in 90%, 80%, 78% and 50% of the cases tested, respectively.									
16330949	ACTA1	aberrant expression	Myopericytoma	Immunohistochemically, all cases tested stained positively for ASMA.									
12354798	ACTA1	altered expression	Gastric Cancer Stroma Cell; Gastric Cancer Carcinoma	In the 24 diffuse-type gastric carcinomas, six of the 13 carcinomas invading the subserosa had ASMA+ cells in the tumour stroma, whereas all six diffuse-type gastric carcinomas confined to the submucosa and all five invading the muscularis propria had no ASMA+ cells in the tumour stroma; In the 43 intestinal-type gastric carcinomas, only five of the 21 carcinomas confined to the submucosa had ASMA+ cells in the tumour stroma, whereas 21 of the 22 intestinal-type gastric carcinomas invading the muscularis propria and the subserosa had ASMA+ cell bundles in the tumour stroma; All seven solid-type gastric carcinomas examined had ASMA+ cells but not CD34+ cells in the tumour stroma									
12066202	ACTA1	aberrant expression	Renomedullary Interstitial Cell Tumor	CD35-positive cells (dendritic cells) and ASMA-positive cells were observed in all the tumors, with a more frequent occurrence in the cellular type than the fibrous type.									
11350610	ACTA1	loss of expression	Phyllodes Tumor	However, they showed no immunoreaction to CAM 5.2, desmin, alpha-smooth muscle actin (ASMA), neuron-specific enolase (NSE) nor S-100.									
1653908	ACTA1	aberrant expression	Gliosarcoma	Spindle cells in reticulin-rich areas of 'gliosarcomas' and glioblastomas most frequently expressed ASMA but many cells also expressed S100 protein and GFAP; some cells expressed both GFAP and ASMA.									
25396311	AIRE	loss of expression	Thymoma	However, several abnormalities have been described in thymomas that may affect normal T-cell development: the tumor architecture is distorted, neoplastics expresses less MHC class II, most thymomas do not express AIRE, and production of T-regulator cells is decreased.									
22036612	AIRE	hypomethylation	Thymoma	In the same vein, the AIRE promoter was hypomethylated in AIRE-negative thymic epithelial tumors (thymomas) and in several peripheral tissues.									
18568643	AIRE	underexpression	Thymoma	Only 23/45 (51.1%) of thymomas expressed AIRE mRNA at low levels while all normal thymi expressed AIRE mRNA.									
16806159	AIRE	underexpression	Prostate Carcinoma	Cyclopentenone prostaglandins (PGs) such as PGA1, PGA2 and delta12-PGJ2 have been shown to suppress tumor cell growth and to induce apoptosis in prostate cancer cells.									
26221185	ALKBH3	overexpression	Prostate Carcinoma	ALKBH3 becomes upregulated during tumorigenesis and is necessary for proliferation.									
26035443	ALKBH3	altered expression	Renal Cell Carcinoma	Prostate cancer antigen-1 (PCA-1)/ALKBH3 has been recently identified in human prostate cancer and its expression is correlated with disease progression and prognosis									
22826605	ALKBH3	overexpression	Pancreatic Carcinoma	PCA-1/ALKBH3 contributes to pancreatic cancer by supporting apoptotic resistance and angiogenesis							VEGF	positive regulation	In addition, PCA-1/ALKBH3 silencing downregulated VEGF expression and inhibited angiogenesis in vivo.
22515525	ALKBH3	overexpression	Prostate Carcinoma	We previously reported that AlkB homolog 3 (ALKBH3) is highly expressed in prostate cancer but not in benign prostatic hyperplasia or in normal prostate epithelium and that the expression levels of ALKBH3 protein are significantly correlated with the hormone-independent state of prostate cancer.							MM9	regulation	Moreover, ALKBH3 regulates the invasion of prostate cancer cells via the regulation of matrix metalloproteinase 9
21642358	ALKBH3	aberrant expression	Thyroid Gland Papillary Carcinoma	Seven gene regions were associated with PTC risk at P < 0.01, including HUS1, ALKBH3, HDAC4, BAK1, FAF1_CDKN2C, DACT3 and FZD6									
21331762	ALKBH3	altered expression	Rectal Carcinoma	Our results revealed that ST3GAL5, IFITM3, PDAP1, ALKBH3, NUDT14, CNN2, MAPK14, ACO1, and SEPHS1 may be involved in rectal carcinogenesis.									
21285982	ALKBH3	overexpression	Lung Carcinoma	Our immunohistochemical analysis of human adenocarcinomas and squamous cell carcinomas of the lung not only showed overexpression of ALKBH3 in these tumours but the percentage of cells positive for ALKBH3 also correlated statistically to recurrence-free survival in adenocarcinoma.									
17968469	ALKBH3	altered expression	Prostate Carcinoma	PCA-1 mRNA was expressed in the majority of both PCa and HG-PIN specimens but not in BPH and other malignant carcinoma									
16033822	ALKBH3	overexpression	Prostate Carcinoma	We identified a gene, designated prostate cancer antigen-1 (pca-1), which shows high mRNA expression in prostate carcinoma.									
27270314	ARID2	mutation	Gastric Adenocarcinoma	Five genes (TP53, BAI1, THSD1, ARID2, and KIAA2022) verified in our study were also mutated at a frequency greater than 5%in the COSMIC database									
27175599	ARID2	mutation	Gastric Adenoma	All MSS gastric adenomas also harbored ARID2 truncating mutations, often as multiple, region-specific ones indicative of convergent evolution									
27050151	ARID2	mutation	Oral Cavity Squamous Cell Carcinoma	Notably, we identified mutations (MLL4, USP9X, ARID2) in cell lines derived from betel quid users that may be associated with this specific risk factor									
27035278	ARID2	altered expression	Hepatocellular Carcinoma	Notably, alterations of ARID2 expression abrogated the effects of miR155 on HCC cell proliferation, cell cycle and apoptosis	miR-155	negative regulation	Mechanistically, we identified AT-rich interactive domain 2 (ARID2) as a direct downstream target and functional mediator of miR155 in HCC cells						
26998897	ARID2	mutation	Duodenal Adenocarcinoma	The authors identified recurrent mutations in tumor protein p53 (TP53), KRAS, catenin (cadherin-associated protein) β-1 (CTNNB1), AT-rich interactive domain 2 (ARID2), adenomatous polyposis coli (APC), erb-b2 receptor tyrosine kinase 2 (ERBB2), ARID1A, cadherin-related family member 1 (CDHR1), NRAS, Bcl-2-related ovarian killer (BOK), radial spoke head 14 homolog (chlamydomonas) (RTDR1), cell division cycle 27 (CDC27), catalytic subunit of phosphoinositide-3-kinase (PIK3CA), and SMAD family member 4 (SMAD4)									
26920370	ARID2	mutation	Malignant Ovarian Neoplasm	Other recurrently mutated genes included ETS1, MLH1, PRKDC (3/10 each), and AMER1, ARID2, BCL11A, CREBBP, ERBB2, EXT1, FANCD2, MSH6, NF1, NOTCH1, NUMA1, PDE4DIP, PPP2R1A, RNF213, and SYNE1 (2/10 each).									
16865262	HDAC4	underexpression	Colon Carcinoma; Lung Carcinoma	In colon carcinomas, the RPS6KA6, HDAC4, KIAA0828 and Tip60 genes were downregulated in tumor tissue as compared with normal tissue (P < 0.001 for all genes). In lung carcinomas, HDAC4, KIAA0820 and Tip60 were downregulated (P < 0.01, P < 0.001 and P < 0.001 respectively).									
16865262	KAT5	underexpression	Colon Carcinoma; Lung Carcinoma	In colon carcinomas, the RPS6KA6, HDAC4, KIAA0828 and Tip60 genes were downregulated in tumor tissue as compared with normal tissue (P < 0.001 for all genes). In lung carcinomas, HDAC4, KIAA0820 and Tip60 were downregulated (P < 0.01, P < 0.001 and P < 0.									
26284269	ARID2	mutation	Hepatocellular Carcinoma	ARID2 (ARID2), CTNNB1 (β catenin), tumor protein 53 (p53), and PIK3CA (p110α) mutations are implicated in hepatocellular carcinoma (HCC); and previous work has contributed to thorough molecular characterization of these events; Furthermore, we found that loss of ARID2 protein expression may be associated with recurrence, although further studies must be done to validate these findings in a larger population									
17086209	FXR1	mutation (loss of function)	Colon Carcinoma	Bi-allelic inactivating mutations were found in the FXR1, SEC31L1, NCOR1, BAT3, PHF14, ZNF294, C19ORF5 genes as well as genes coding for proteins with yet unknown functions.									
26169693	ARID2	underexpression	Hepatocellular Carcinoma	As a result, ARID2 expression in hepatocellular carcinoma (HCC) was decreased	miR-208-3p; TGFβ1/miR-208-3p/ARID2 regulatory pathway	negaitve regulation; regulation	In this study, miR-208-3p was highly expressed and directly repressed ARID2 expression; Moreover, ARID2 was possibly a downstream element of transforming growth factor beta1 (TGFβ1)/miR-208-3p/ARID2 regulatory pathway						
26099527	ARID2	mutation	Hepatocellular Carcinoma	TP53 and CTNNB1 are the next most prevalent mutations, affecting 25%-30% of HCC patients, that, in addition to low-frequency mutated genes (eg, AXIN1, ARID2, ARID1A, TSC1/TSC2, RPS6KA3, KEAP1, MLL2), help define some of the core deregulated pathways in HCC									
25790038	ARID2	mutation	Papillary Renal Cell Carcinoma	We identify BAP1, SETD2, ARID2 and Nrf2 pathway genes (KEAP1, NHE2L2 and CUL3) as probable drivers, together with at least eight other possible drivers; However, only ~10% of tumours harbour detectable pathogenic changes in any one driver gene, and where present, the mutations are often predicted to be present within cancer sub-clones									
17086209	BAG6	mutation (loss of function)	Colon Carcinoma	Bi-allelic inactivating mutations were found in the FXR1, SEC31L1, NCOR1, BAT3, PHF14, ZNF294, C19ORF5 genes as well as genes coding for proteins with yet unknown functions.									
25502816	ARID2	altered expression	Hepatocellular Carcinoma	Sequencing analysis focused on nine genes typically altered during liver carcinogenesis, i.e. ARID2, AXIN1, BRAF, CTNNB1, NFE2L2, H/K/N-RAS, and TP53									
25393105	ARID2	mutation	Melanoma	Extension studies using tumors from another 96 patients discovered a large number of truncation mutations in tumor suppressors (TP53 and RB1), protein phosphatases (e.g., PTEN, PTPRB, PTPRD, and PTPRT), as well as chromatin remodeling genes (e.g., ASXL3, MLL2, and ARID2)									
17589499	WHSC1L1	mutation	Acute Myeloid Leukemia; Plasma Cell Myeloma; Lung Carcinoma	Nuclear receptor-binding SET domain protein 1 (NSD1) prototype is a family of mammalian histone methyltransferases (NSD1, NSD2/MMSET/WHSC1, NSD3/WHSC1L1) that are essential in development and are mutated in human acute myeloid leukemia (AML), overgrowth syndromes, multiple myeloma and lung cancers.									
25159915	ARID2	mutation	Hepatocellular Carcinoma	Lower frequency mutations have been reported in ARID1A, ARID2 and JAK1									
17589499	NSD1	mutation	Acute Myeloid Leukemia	In AML, the recurring t(5;11)(q35;p15.5) translocation fuses NSD1 to nucleoporin-98 (NUP98).							HoxA7; HoxA9; HoxA10; Meis1 	positive regulation	We demonstrate that NUP98-NSD1 induces AML in vivo, sustains self-renewal of myeloid stem cells in vitro, and enforces expression of the HoxA7, HoxA9, HoxA10 and Meis1 proto-oncogenes.
17589499	WHSC1	mutation	Acute Myeloid Leukemia; Plasma Cell Myeloma; Lung Carcinoma	Nuclear receptor-binding SET domain protein 1 (NSD1) prototype is a family of mammalian histone methyltransferases (NSD1, NSD2/MMSET/WHSC1, NSD3/WHSC1L1) that are essential in development and are mutated in human acute myeloid leukemia (AML), overgrowth syndromes, multiple myeloma and lung cancers.									
24379610	ARID2	mutation	Hepatocellular Carcinoma	High-throughput short-read sequencing of exomes and whole cancer genomes in multiple human hepatocellular carcinoma (HCC) cohorts confirmed previously identified frequently mutated somatic genes, such as TP53, CTNNB1 and AXIN1, and identified several novel genes with moderate mutation frequencies, including ARID1A, ARID2, MLL, MLL2, MLL3, MLL4, IRF2, ATM, CDKN2A, FGF19, PIK3CA, RPS6KA3, JAK1, KEAP1, NFE2L2, C16orf62, LEPR, RAC2, and IL6ST									
24292195	ARID2	mutation	Gingivo-buccal Oral Squamous Cell Carcinoma	Exome sequencing (n=50) and recurrence testing (n=60) reveals that some significantly and frequently altered genes are specific to OSCC-GB (USP9X, MLL4, ARID2, UNC13C and TRPM3), while some others are shared with HNSCC (for example, TP53, FAT1, CASP8, HRAS and NOTCH1).									
23103869	ARID2	mutation	Pancreatic Carcinoma	We define 16 significantly mutated genes, reaffirming known mutations (KRAS, TP53, CDKN2A, SMAD4, MLL3, TGFBR2, ARID1A and SF3B1), and uncover novel mutated genes including additional genes involved in chromatin modification (EPC1 and ARID2), DNA damage repair (ATM) and other mechanisms (ZIM2, MAP2K4, NALCN, SLC16A4 and MAGEA6).									
23047306	ARID2	mutation (loss of function)	Non-Small Cell Lung Carcinoma	Recurrent inactivating mutations of ARID2 in non-small cell lung carcinoma.									
22817889	ARID2	mutation	Melanoma	Analysis of large-scale melanoma exome data by this approach discovered six novel melanoma genes (PPP6C, RAC1, SNX31, TACC1, STK19, and ARID2), three of which-RAC1, PPP6C, and STK19-harbored recurrent and potentially targetable mutations									
17611626	HELLS	overexpression	Melanoma	Further analysis of expression signatures associated with melanoma progression using functional annotations categorized these transcripts into three classes of genes: 1) Upregulation of activators of cell cycle progression, DNA replication and repair (CDCA2, NCAPH, NCAPG, NCAPG2, PBK, NUSAP1, BIRC5, ESCO2, HELLS, MELK, GINS1, GINS4, RAD54L, TYMS, and DHFR), 2) Loss of genes associated with cellular adhesion and melanocyte differentiation (CDH3, CDH1, c-KIT, PAX3, CITED1/MSG-1, TYR, MELANA, MC1R, and OCA2), 3) Upregulation of genes associated with resistance to apoptosis (BIRC5/survivin).									
22095441	ARID2	mutation (loss of function)	Hepatocellular Carcinoma	Our recent work described novel inactivating mutations of ARID2 (AT-rich interactive domain 2) in four major subtypes of HCC through exomic sequencing of ten HCV-associated HCCs and subsequent evaluation of the tumors from additional affected individuals									
21822264	ARID2	mutation (loss of function)	Hepatocellular Carcinoma	Notably, 18.2% of individuals with HCV-associated HCC in the United States and Europe harbored ARID2 inactivation mutations, suggesting that ARID2 is a tumor suppressor gene that is relatively commonly mutated in this tumor subtype.									
17611626	RAD54L	overexpression	Melanoma	Further analysis of expression signatures associated with melanoma progression using functional annotations categorized these transcripts into three classes of genes: 1) Upregulation of activators of cell cycle progression, DNA replication and repair (CDCA2, NCAPH, NCAPG, NCAPG2, PBK, NUSAP1, BIRC5, ESCO2, HELLS, MELK, GINS1, GINS4, RAD54L, TYMS, and DHFR), 2) Loss of genes associated with cellular adhesion and melanocyte differentiation (CDH3, CDH1, c-KIT, PAX3, CITED1/MSG-1, TYR, MELANA, MC1R, and OCA2), 3) Upregulation of genes associated with resistance to apoptosis (BIRC5/survivin).									
26189108	ARID4B	mutation (loss of function)	High Hyperdiploid Acute Lymphoblastic Leukemia	Oncogenic mutations of RAS pathway genes (NRAS, KRAS, FLT3, n=4) and deactivating mutations of major epigenetic regulators (CREBBP, EP300, each n=2 and ARID4B, EZH2, MACROD2, MLL2, each n=1) were prominent in these cases and virtually absent in non-recurrent cases (n=6) or other pediatric acute lymphoblastic leukemia cases (n=18)									
22693453	ARID4B	altered expression	Breast Carcinoma	Ectopic expression of Arid4b promoted primary tumor growth in vivo as well as increased migration and invasion in vitro, and the phenotype was associated with polymorphisms identified between the AKR/J and DBA/2J alleles as predicted by our genetic analyses.				AKR/J; DBA/2J; BRMS1; mSIN3A; mSDS3	association; association; physically interaction; differenctial binding; differential binding	Ectopic expression of Arid4b promoted primary tumor growth in vivo as well as increased migration and invasion in vitro, and the phenotype was associated with polymorphisms identified between the AKR/J and DBA/2J alleles as predicted by our genetic analyses; ARID4B physically interacts with the breast cancer metastasis suppressor BRMS1, and we detected differential binding of the Arid4b alleles to histone deacetylase complex members mSIN3A and mSDS3, suggesting that the mechanism of Arid4b action likely involves interactions with chromatin modifying complexes			
15761963	ARID4B	overexpression	Gastric Carcinoma	Northern blot and immunohistochemistry analysis confirmed that gene and protein of brcaa1 displayed lower expression in normal gastric mucosa and higher expression in gastric cancer tissues, conversely, ndr1 displayed lower expression in gastric cancer and higher expression in normal gastric mucosa.									
11481388	ARID4B	overexpression	Breast Carcinoma; Lung Carcinoma; Colon Carcinoma; Pancreatic Carcinoma; Ovarian Carcinoma	High expression of RBP1L1 messenger RNA was found in human breast, lung, colon, pancreatic, and ovarian cancers and in normal testis, but expression was limited in other normal tissues.									
25085003	APOBEC1	mutation	Esophageal Adenocarcinoma	Moreover, we find the presence of an AID/APOBEC mutational signature in esophageal adenocarcinomas, a type of tumor where APOBEC1 is expressed, that mimics the one preferred by APOBEC1 in vitro									
16595896	APOBEC1	underexpression	Melanoma	Seven down-regulated genes of APOBEC1, ARHGEF16, CD22, FGFR3, GALNT1, UNC5C and ZNF146 that were typically validated by the real-time quantitative PCR (RT-qPCR) analysis technology showed to be the tumor suppressor genes in melanoma cancer cells.									
27383302	ACTB	aberrant expression	Malignant Ovarian Neoplasm	Based on the topological centrality analyses for exemplars in MIN, we considered the C9orf16, COX5B and ACTB to be key genes in the progress of ovarian cancer									
27230828	ACTB	underexpression	Breast Carcinoma	The ACTB, TUBB, EZR, RDX, FN1, VEGFA, FLK1 Casp9, Casp3, PRKCA mRNAs were downregulated in 5d-MCS-samples.									
27070589	ACTB	underexpression	Thyroid Gland Carcinoma	Of the 24 genes analyzed VEGFA, VEGFD, MSN, and MMP3 were upregulated in MCS compared to 1g-controls, whereas ACTB, ACTA2, KRT8, TUBB, EZR, RDX, PRKCA, CAV1, MMP9, PAI1, CTGF, MCP1 were downregulated.									
26299866	ACTB	copy number change	Gastric Adenocarcinoma	The data suggest that the number of copies of changes in the BAX, CASP3, CASP8, OCT4, C-MYC, SOX2, BCL2, NANOG, CASP9, NFKB1, HV2, ACTB, MKI67, IL-10, GSTP1, and P53 genes play an important role in the malignization of gastric tissue.									
25575809	ACTB	underexpression (hypermethylation)	Head and Neck Squamous Cell Carcinoma 	HNSCC patients with lower ratio of GRIM-19/ACTB hypermethylation had increased overall and disease free survival.									
25232253	ACTB	overexpression	Gastric Adenocarcinoma	Further, comparison of immunostaining between normal and tumor tissues revealed that both epithelial and inflammatory cells overexpress β-actin in tumor tissues, however, significant difference was observed only in inflammatory cells (5.92 ± 0.23 vs 6.71 ± 0.14, P < 0.01).									
25192722	ACTB	overexpression	Malignant Ovarian Neoplasm	A total of 17 expressed differential proteins were identified, 8 proteins were upregulated (ACTB, TIM, PDIA3, PDIA1, DCTN2, KIC17, SIAS, and KIC10) and 9 downregulated (KIC18, GRP78, CAPG, PPIA, ROA2, LMNA, EZRI, ADRM1, and ENOA).									
23635433	ACTB	overexpression	Gastric Carcinoma	The level of β-actin was significantly higher in gastric cancer tissues than in the corresponding normal mucosa.									
25083461	ACTB	underexpression	Breast Carcinoma	The expressions of keratin type I cytoskeletal 19 (KIC19) and thymidine phosphorylase (TYPH) were up-regulated, and the expressions of heat shock protein 27 (HSP27), keratin type I cytoskeletal 9 (KIC9), collagen alpha-2(VI) (CO6A2), vimentin (VIME), and actin cytoplasmic 1 (ACTB) were down-regulated in the drug resistant group.									
21125333	ACTB	overexpression	Esophageal Squamous Cell Carcinoma	Comparison of patterns revealed 20 proteins significantly changed, of which 12 protein with concordantly increased, such as ACTB protein, COMT protein, Syntaxin binding protein Pyruvate Kinase (PKM2), Cathepsin D, Chromosome 1 open reading frame 8, Heat shock protein 27, Cdc42, Proteosome, LLDBP, Immunoglobulin, TNF receptor associated factor 7; and eight protein spots with concordantly decreased intensity in ESCC, such as Adenylate kinase 1, General transcription factor II H, Smooth muscle protein, Trangelin, Early endosome antigen 1, Annexin A2, Fibrin beta, Tropomyosin.									
20701774	ACTB	overexpression	Melanoma	Highly expressed proteins in B16M group included cytoskeleton/structure proteins (vimentin, gamma-actin, beta-actin, laminin binding protein), the chaperone family of proteins (heavy-chain binding protein, Bip), immunoproteasome assembly (proteasome activator REG alpha) and others involved in glycolysis activity (PGK1, enolase, TPI, human skeletal muscle GAPDH) and protein transport (myoglobin).									
20683002	ACTB	overexpression	Gastrointestinal Stromal Tumors	Regarding the primary lesion sites, the following 6 genes were overexpressed in tumors in the stomach: RBL2, RHOA, SHC1, HSP90AB1, ACTB and BAS2C.									
20362224	ACTB	underexpression	Osteosarcoma	The six down-regulated proteins include ADCY1, ATP5B, TUBB, RCN3, ACTB, and YWHAZ.									
19535095	ACTB	overexpression	Hepatocellular Carcinoma	Overexpressed proteins included beta-5-tubulin, beta-actin, vimentin, hypermethylated in cancer 2 protein, heat-shock 70-kDa protein 9B, serum albumin, 39S ribosomal protein L45, butyrophilin, autoimmune regulator, and transcription factor ETV7.									
18932288	ACTB	overexpression	Hepatocellular Carcinoma	The up-regulated genes in HCV-infected group included 4 genes: VIM (cell structure), ACTB (cell structure), GAPD (glycolysis) and CD58 (cell adhesion).									
18787018	ACTB	aberrant expression	Breast Carcinoma	Overexpression of full-length Ago2, but not truncated forms of Ago2 or an empty vector control, reduced the levels of E-cadherin, beta-catenin, and beta-actin, as well as enhanced endogenous miR-206 activity. These data indicate that Ago2 is regulated at both the transcriptional and posttranslational level, and also implicate Ago2 and enhanced micro-RNA activity in the tumorigenic progression of breast cancer cell lines.	Ago2	negative regulation	Overexpression of full-length Ago2, but not truncated forms of Ago2 or an empty vector control, reduced the levels of E-cadherin, beta-catenin, and beta-actin, as well as enhanced endogenous miR-206 activity.						
15940343	ACTB	overexpression	Hepatocellular Carcinoma	Statistically significant increase of beta-actin level in highly motile EB3 cells variant should be underlined to compare with the other sublines.									
15555571	ACTB	mutation	Ito Cell Tumor	Pericytoma with t(7;12) is a newly defined soft tissue tumor characterized by fusion of the ACTB and GLI genes through the translocation t(7;12)(p22;q13).				GLI	Fusion	Pericytoma with t(7;12) is a newly defined soft tissue tumor characterized by fusion of the ACTB and GLI genes through the translocation t(7;12)(p22;q13).			
15111311	ACTB	mutation	Ito Cell Tumor	Activation of the GLI oncogene through fusion with the beta-actin gene (ACTB) in a group of distinctive pericytic neoplasms: pericytoma with t(7;12).				GLI	Fusion	Pericytoma with t(7;12) is a newly defined soft tissue tumor characterized by fusion of the ACTB and GLI genes through the translocation t(7;12)(p22;q13).			
1693276	ACTB	overexpression	Colon Carcinoma	About 47% and 16% of these tumor samples also showed increased levels of ODC (mean 3.1-fold) and beta-actin (mean 1.6-fold) RNA, respectively.									
7067038	ACTB	mutation	Fibroblastic Neoplasm	HUT-14 fibroblasts express a mutation in one of the two functional beta-actin genes and possess properties that distinguish them as neoplastic cells.									
7074877	ACTB	mutation	Fibroblastic Neoplasm	We found that the neoplastic HUT-14 fibroblasts express a mutation in one of the two functional beta-actin genes.									
3380097	ACTB	underexpression (mutation)	Fibroblastic Neoplasm	HuT-14T is a highly tumorigenic fibroblast cell line which exhibits a reduced steady-state level of beta-actin due to coding mutations in one of two beta-actin alleles.									
6943565	ACTB	copy number loss	Fibroblastic Neoplasm	These results suggest that HuT-14 cells contain only one copy per haploid genome for Ax- or beta-actin.									
3374511	ACTB	underexpression (mutation)	Fibroblastic Neoplasm	The HuT-14 substrain expresses a defective beta-actin as a consequence of a point mutation in 1 of the 2 functional beta-actin alleles.									
19901965	EYA1	overexpression	Malignant Peripheral Nerve Sheath Tumor	We identified a decrease in DACH1 expression, and increases in the expressions of PAX6, EYA1, EYA2, EYA4, and SIX1-4 genes.									
19901965	EYA2	overexpression	Malignant Peripheral Nerve Sheath Tumor	We identified a decrease in DACH1 expression, and increases in the expressions of PAX6, EYA1, EYA2, EYA4, and SIX1-4 genes.									
20068184	ASXL1	mutation	Myeloproliferative Neoplasm	We conclude that mutations in TET2, ASXL1, and IDH1 are common in sAML derived from a preexisting MPN.									
27195705	ARID1B	altered expression	Breast Carcinoma	However, only MYC, DNAH5, CSFR1, EPHA7, ARID1B, and KMT2C preserved an independent prognosis impact and/or showed a significantly different incidence of alterations between relapsed and non-relapsed cases in the TCGA series									
27063598	ARID1B	mutation (loss of function)	Leukemia	Our sequencing data also demonstrates incidence of loss-of-function mutations in previously unidentified genes, ARID1B and ARID1A, both of which encode for key components of the SWI/SNF complex.									
26892443	ARID1B	mutation	Spitzoid Melanoma	In addition, two tumors each contained a second fusion gene, ARID1B-SNX9 or PTPRZ1-NFAM1.				SNX9	Fusion	In addition, two tumors each contained a second fusion gene, ARID1B-SNX9 or PTPRZ1-NFAM1.			
20068184	IDH1	mutation	Acute Myeloid Leukemia	Frequent mutations were identified in TET2 (26.3%), ASXL1 (19.3%), IDH1 (9.5%), and JAK2 (36.8%) mutations in sAML, and all possible mutational combinations of these genes were also observed.									
26345631	ARID1B	loss of expression	Non-Small Cell Lung Carcinoma	The loss of the expression of ARID1A, ARID1B, and BAF47 was observed only in a fraction of NSCLC cases.									
26336887	ARID1B	mutation	Mesonephric Carcinoma	Mutations in chromatin remodeling genes (ARID1A, ARID1B, or SMARCA4) were present in 62% of mesonephric carcinomas.									
20636436	HDAC7	overexpression	Acute Lymphoblastic Leukemia	ALL samples showed higher expression levels of HDAC2, HDAC3, HDAC8, HDAC6 and HDAC7 when compared to normal bone marrow samples.									
25817822	ARID1B	overexpression	Breast Carcinoma	Univariate analysis revealed that high ARID1B expression is correlated closely with histological grade (P = 0.045) and size (P = 0.043) of invasive breast cancer.									
25549701	ARID1B	mutation	Meningioma	From exome sequencing data, we identified several frequently mutated genes including NF2, MN1, ARID1B, SEMA4D, and MUC2, with private mutations in tumors.									
20636436	HDAC4	overexpression	T Acute Lymphoblastic Leukemia	HDAC1 and HDAC4 showed high expression in T-ALL and HDAC5 was highly expressed in B-lineage ALL.									
25233892	ARID1B	mutation	Carcinosarcoma	In addition to mutations in TP53 and KRAS, we identify genetic alterations in chromatin remodelling genes, ARID1A and ARID1B, in histone methyltransferase MLL3, in histone deacetylase modifier SPOP and in chromatin assembly factor BAZ1A, in nearly two thirds of cases.									
21340513	ASXL1	mutation	Myelodysplastic Syndrome	Newly elucidated molecular abnormalities in MDS include mutations in CBL, TET2, ASXL1, IDH1/IDH2, EZH2, DNMT3A, and UTX.									
24366360	ARID1B	loss of expression (copy number loss)	Waldenstrom Macroglobulinemia	Validated gene losses due to CNAs involved PRDM2 (93%), BTG1 (87%), HIVEP2 (77%), MKLN1 (77%), PLEKHG1 (70%), LYN (60%), ARID1B (50%), and FOXP1 (37%). Losses in PLEKHG1, HIVEP2, ARID1B, and BCLAF1 constituted the most common deletions within chromosome 6.									
23660946	ARID1B	underexpression	Pancreatic Carcinoma	In addition, ARID1B exhibited significantly reduced/loss of expression in PaCa tissue, especially in samples from advanced-stage tumours, when compared with normal pancreas.									
23202128	ARID1B	mutation; copy number loss	Neuroblastoma	Among genes not previously known to be involved in neuroblastoma, chromosomal deletions and sequence alterations of the chromatin-remodeling genes ARID1A and ARID1B were identified in 8 of 71 tumors (11%) and were associated with early treatment failure and decreased survival.									
22722201	ARID1B	mutation	Breast Carcinoma	Driver mutations were identified in several new cancer genes including AKT2, ARID1B, CASP8, CDKN1B, MAP3K1, MAP3K13, NCOR1, SMARCD1 and TBX3.									
21340513	IDH1	mutation	Myelodysplastic Syndrome	Newly elucidated molecular abnormalities in MDS include mutations in CBL, TET2, ASXL1, IDH1/IDH2, EZH2, DNMT3A, and UTX.									
22170482	ASXL1	mutation	Myeloproliferative Neoplasm	Recent advances in genomic technologies have led to the discovery of mutations in a number of epigenetic modifiers in patients with MPNs, including mutations in TET2, ASXL1, IDH1, IDH2, and EZH2.									
26001144	BRD3	mutation	Primary Pulmonary NUT Midline Carcinoma	Eight cases had a fluorescence in situ hybridization-proven BRD4-NUT or BRD3-NUT rearrangement; one case was presumed to have a NUT-variant fusion event.									
22170482	IDH1	mutation	Myeloproliferative Neoplasm	Recent advances in genomic technologies have led to the discovery of mutations in a number of epigenetic modifiers in patients with MPNs, including mutations in TET2, ASXL1, IDH1, IDH2, and EZH2.									
23463074	BRD3	mutation	NUT Midline Carcinoma	The rearrangements most often take the form of BRD4-NUT fusions, and in a minority of cases, BRD3-NUT or NUT-variant fusions.				NUT	Fusion	The rearrangements most often take the form of BRD4-NUT fusions, and in a minority of cases, BRD3-NUT or NUT-variant fusions.			
22017582	BRD3	mutation	NUT Midline Carcinoma	NUT midline carcinoma (NMC), an aggressive form of squamous cell carcinoma, is defined by the presence of acquired chromosomal rearrangements involving NUT, usually BRD4-NUT fusion genes and, less commonly, NUT-variant fusion genes involving BRD3 or still-uncharacterized genes.				NUT	Fusion	The rearrangements most often take the form of BRD4-NUT fusions, and in a minority of cases, BRD3-NUT or NUT-variant fusions.			
20951314	BRD3	mutation	NUT Midline Carcinoma	In the remaining cases, NUT is fused to BRD3 or an unknown partner gene; these tumors are termed NUT-variant.				NUT	Fusion	The rearrangements most often take the form of BRD4-NUT fusions, and in a minority of cases, BRD3-NUT or NUT-variant fusions.			
20017639	BRD3	mutation	NUT Midline Carcinoma	In two thirds of cases, NUT is involved in a balanced translocation with BDR4 on chromosome 19, while in the remaining cases, NUT is rearranged with variant fusion partners such as BRD3.				NUT	Fusion	The rearrangements most often take the form of BRD4-NUT fusions, and in a minority of cases, BRD3-NUT or NUT-variant fusions.			
18552174	BRD3	mutation	NUT Midline Carcinoma	Variant rearrangements, some involving the BRD3 gene, occur in the remaining cases.									
17934517	BRD3	mutation	NUT Midline Carcinoma	Using a candidate gene approach, we identified two NMCs harboring novel rearrangements that result in the fusion of NUT to BRD3 on chromosome 9.				NUT	Fusion	The rearrangements most often take the form of BRD4-NUT fusions, and in a minority of cases, BRD3-NUT or NUT-variant fusions.			
16008511	BRD3	mutation	Bladder Carcinoma	A study of human BRD3, located on chromosome 9 at q34, a region susceptible to genomic rearrangement, showed an altered expression in 4 of 12 patients with bladder cancer, compared with adjacent noncancerous tissues.									
12600283	BRD3	underexpression; loss of expression	Nasopharyngeal Carcinoma	Down-expression or loss of BRD2 and BRD3 genes were detectable in NPC biopsies.	BRD7	positive regulation	BRD7 protein could respectively interact with proteins, BRD2 and BRD3, and BRD7 could up-regulate the expression levels of BRD2 and BRD3 genes in mRNA level to some extent.						
26918056	CBX4	overexpression	Osteosarcoma	The expression of CBX4 was up-regulated in multiple OS cell lines and clinical samples.							HIF-1α-targeted genes	positive regulation	In addition, we found that knockdown of CBX4 lead to down-regulating of HIF-1α-targeted genes without changing HIF-1α expression itself.
22233809	ARID1B	mutation	Pancreatic Carcinoma	Notable among the alterations newly identified, genomic deletions, mutations, and rearrangements recurrently targeted genes encoding components of the SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeling complex, including all three putative DNA binding subunits (ARID1A, ARID1B, and PBRM1) and both enzymatic subunits (SMARCA2 and SMARCA4).									
25766328	CBX4	overexpression	Hepatocellular Carcinoma	Our recent investigations showed that polycomb chromobox 4 (Cbx4) promotes angiogenesis and metastasis of hepatocellular carcinoma (HCC) through its sumoylating action on hypoxia-inducible factor-1α protein.							HIF-1α	regulation	Our recent investigations showed that polycomb chromobox 4 (Cbx4) promotes angiogenesis and metastasis of hepatocellular carcinoma (HCC) through its sumoylating action on hypoxia-inducible factor-1α protein.
24916276	CBX4	overexpression	Hepatocellular Carcinoma	Recently, we reported that polycomb chromobox 4 (Cbx4) governs the transcriptional activity of HIF-1α by enhancing its sumoylation at K391 and K477, through which Cbx4 potentiates angiogenesis of hepatocellular carcinoma.							HIF-1α	regulation	Recently, we reported that polycomb chromobox 4 (Cbx4) governs the transcriptional activity of HIF-1α by enhancing its sumoylation at K391 and K477, through which Cbx4 potentiates angiogenesis of hepatocellular carcinoma.
24434214	CBX4	aberrant expression	Hepatocellular Carcinoma	The Cbx4 expression is significantly correlated with VEGF expression, angiogenesis, and the overall survival of HCC patients and also in subcutaneously and orthotopically transplanted mice HCC models.							VEGF; HIF-1α	positive regulation	Here, we report that Cbx4, but not other members of the Cbx family, enhances hypoxia-induced vascular endothelial growth factor (VEGF) expression and angiogenesis in hepatocellular carcinoma (HCC) cells through enhancing HIF-1α sumoylations at K391 and K477 in its two SUMO-interacting motifs-dependent mechanisms and increasing transcriptional activity of HIF-1.
23943028	CBX4	overexpression	Hepatocellular Carcinoma	The expression of CBX4 was up-regulated in multiple HCC cell lines and clinical samples.				AFP	correlation	Although the CBX4 protein was detectable in both nucleus and cytoplasm in HCC tumor tissues, the high expression of CBX4 in cytoplasm was correlated with the α-fetoprotein level in serum (P = 0.036), tumor size (P = 0.029), pathologic differentiation (P = 0.033), and tumor, node, metastasis classification system stages (P = 0.032).			
23502315	CBX4	overexpression	Leukemia	Cbx7 is specifically expressed in haematopoietic stem cells (HSCs), and its overexpression enhances self-renewal and induces leukaemia.									
27346354	CBX8	overexpression	Breast Carcinoma	Accordingly, Cbx8 is overexpressed in human breast cancer andcorrelates with poor survival.							Notch signaling	positive regulation	Our genomic analyses revealed that Cbx8 positively regulates Notch signaling by maintaining H3K4me3 levels on Notch-network gene promoters.
22233809	PBRM1	mutation	Pancreatic Carcinoma	Notable among the alterations newly identified, genomic deletions, mutations, and rearrangements recurrently targeted genes encoding components of the SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeling complex, including all three putative DNA binding subunits (ARID1A, ARID1B, and PBRM1) and both enzymatic subunits (SMARCA2 and SMARCA4).									
22233809	SMARCA4	mutation	Pancreatic Carcinoma	Notable among the alterations newly identified, genomic deletions, mutations, and rearrangements recurrently targeted genes encoding components of the SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeling complex, including all three putative DNA binding subunits (ARID1A, ARID1B, and PBRM1) and both enzymatic subunits (SMARCA2 and SMARCA4).									
25360999	CBX8	aberrant expression	Colorectal Carcinoma	Here, we found that high CBX8 expression was associated with a low rate of distant metastasis and good prognosis in CRC patients, even though CBX8 was up-regulated in CRC cell lines and clinical samples.							p53; ITGB4; RhoA	negative regulation; negative regulation; positive regulation	Knockdown of CBX8 inhibited CRC proliferation in vitro and in vivo, mostly by increasing p53 and its downstream effectors. However, knockdown of CBX8 enhanced CRC migration, invasion and metastasis in vitro and in vivo, in part through direct up-regulation of integrin β4 (ITGB4) that in turn decreased RhoA activity.
25197352	CBX8	overexpression	Esophageal Squamous Cell Carcinoma	In this study, we found that CBX8 was up-regulated in esophageal carcinoma tissues compared with adjacent non-cancerous tissues (P<0.01) and correlated with TNM stage in esophageal squamous cell carcinoma patients.							CDK	positive regulation	Depletion of CBX8 decreased cell proliferation both in vitro and in vivo and increased the phosphorylation levels of p21, Wee1, and CHK1, which result in cyclin-dependent kinase inhibition and cell-cycle delay.
24260522	CBX8	aberrant expression	Glioblastoma	The most striking differences were upregulation of EZH2, PHF19, CBX8 and PHC2 and downregulation of CBX7, CBX6, EZH1 and RYBP.									
26568194	EHMT1	overexpression	Acute Myeloid Leukemia	We used bisulfite pyrosequencing to analyze the methylation status of four tet2-DMCs (SP140, MCCC1, EHMT1, and MTSS1) in a test group of 94 consecutive patients and a validation group of 92 consecutive patients treated with cytarabine-based chemotherapy. In the test cohort, hierarchical clustering analysis identified low levels of tet2-DMC methylation in 31 of 94 (33%) cases, and these had markedly longer overall survival (median survival 72+ vs 14 months, P = .002).									
24649311	EHMT1	overexpression	Esophageal Squamous Cell Carcinoma	A significantly upregulated EHMT1 expression was observed in squamous preinvasive lesions and ESCC compared to the matched normal esophageal epithelia (52.0 vs. 21.7%, respectively).									
21681934	EHMT1	mutation	Ganglioglioma	Molecular analysis identified a novel constitutional tandem duplication in 9q34.3 with breakpoints in intron 1 of TRAF2 and intron 16 of EHMT1 generating a fusion transcript predicted to encode a truncated form of EHMT1.									
27311868	EED	overexpression	Neoplasm	B-cell neoplasms showed a significant over-expression of EZH2, EED and SUZ12 in the aggressive subtypes compared to the indolent subtypes and normal tissue (p= 0.000-0.046) while expression of EZH1 was decreased in mantle cell lymphoma compared to normal tissue (p= 0.011). T/NK-cell neoplasms also showed significant over-expression of EZH2, EED and SUZ12 (p= 0.000-0.002) and decreased expression of EZH1 (p= 0.001) compared to normal cells.									
26298164	EED	overexpression	Lung Metastasis	EZH2, EED, and SUZ12 (core components of Polycomb repressive complex-2 [PRC-2]) were upregulated in the majority of metastases.									
22421440	ARID4B	mutation	Pancreatic Adenocarcinoma	Importantly, 10% of the CCGs are involved in chromatin remodeling, including Arid4b, Kdm6a, and Nsd3, and all SB tumors have at least one mutated gene involved in this process; 20 CCGs, including Ctnnd1, Fbxo11, and Vgll4, are also significantly associated with poor patient survival									
25240281	EED	mutation (loss of function)	Malignant Peripheral Nerve Sheath Tumor	Using comprehensive genomic approaches, we identified loss-of-function somatic alterations of the Polycomb repressive complex 2 (PRC2) components (EED or SUZ12) in 92% of sporadic, 70% of NF1-associated and 90% of radiotherapy-associated MPNSTs.									
24089088	EED	hypermethylation	Cholangiocarcinoma	Gene ontology and gene set enrichment analyses identified gene sets significantly associated with hypermethylation at linked CpG sites in cholangiocarcinoma including homeobox genes and target genes of PRC2, EED, SUZ12, and histone H3 trimethylation at lysine 27.									
23982173	EED	mutation (loss of function)	T Acute Lymphoblastic Leukemia; Myeloid Neoplasm	Although inactivating mutations in PRC2-encoding genes EZH2, EED, and SUZ12 are present in T-cell acute lymphoblastic leukemia and in myeloid malignancies, gain-of-function mutations in EZH2 are frequently observed in B-cell lymphoma, implying disease-dependent effects of individual mutations.									
23709348	EED	mutation	Rectal Carcinoma	Only the allele frequency of g.-1850G>C in the rectal cancer (RC) patient group was significantly different from that of the control group (p=0.04).									
23486531	EED	mutation	Myeloid Neoplasm	When we assessed the mutational status in myeloid malignancies (N=469 cases examined), we found EZH2 and EED/SUZ12 mutations in 8% and 3.3% of cases, respectively.									
22308277	EED	mutation; copy number loss	Myelodysplastic Syndrome; Myeloproliferative Neoplasm	An unexpected revelation of cancer genome studies has been frequent abnormality in genes for factors that modify chromatin, underscored in this issue of Blood by reports from Score et al and Kroeze et al of inactivating mutations and chromosome loss in SUZ12, EED and JARID2 in myelodysplastic syndrome (MDS) and myeloproliferative disease (MPD).									
22237106	EED	mutation (loss of function)	Early T-cell Precursor Acute Lymphoblastic Leukaemia	ETP ALL was characterized by activating mutations in genes regulating cytokine receptor and RAS signalling (67% of cases; NRAS, KRAS, FLT3, IL7R, JAK3, JAK1, SH2B3 and BRAF), inactivating lesions disrupting haematopoietic development (58%; GATA3, ETV6, RUNX1, IKZF1 and EP300) and histone-modifying genes (48%; EZH2, EED, SUZ12, SETD2 and EP300).									
22053108	EED	mutation	Myelodysplastic Syndrome; Myeloproliferative Neoplasm	We did not find mutations of JARID2 or EED in association with acquired uniparental disomy for chromosome 6p or 11q, respectively; however, screening unselected cases identified missense mutations in EED (1 of 148; 1%) and JARID2 (3 of 148; 2%).									
22028491	EED	overexpression	Pleural Malignant Mesothelioma	EZH2 and EED, which encode components of polycomb repressor complex-2 (PRC-2), were overexpressed in MPM lines relative to normal mesothelial cells.									
18326020	EED	overexpression	Salivary Gland Adenoid Cystic Carcinoma	In ACC, this expression pattern was disturbed, with EZH2 and EED showing significantly increased expression levels.									
22568098	DNMT3L	aberrant expression	Embryonal Carcinoma	In testicular germ cell tumors, the fetal-specific methyltransferase-like protein DNMT3L is expressed, and has been used as a novel marker of human embryonal carcinoma.									
20670142	DNMT3L	hypomethylation	Ocular Surface Squamous Neoplasia	We have, for the first time to our knowledge, identified loss of methylation at the DNMT3L promoter in OSSN cases, but its physiologic significance is yet to be understood.									
20460473	DNMT3L	overexpression	Testicular Germ Cell Tumor; Embryonal Carcinoma	Among the DNMT genes, we found that mRNA for DNMT3L was specifically expressed in TGCTs, but neither in normal testicular tissues nor in cancer cells of somatic tissue origin. DNMT3L protein was strongly expressed in two EC cell lines, but not in the cell lines of somatic tissue origin.									
27469137	EYA4	underexpression	Intrahepatic Cholangiocarcinoma	ICC tissues had significantly lower EYA4 mRNA and protein levels compared with adjacent non-tumoral tissues (both P<0.001).									
27231175	EYA4	underexpression (hypermethylation)	Acute Myeloid Leukemia	EYA4 gene was hypermethylated in AML1-ETO+ patients and its expression was down-regulated by 6-fold in Kasumi-1 and SKNO-1 cells, compared to HL-60 and SKNO-1-siA/E cells, respectively.	AML1-ETO	negative regulation	We demonstrated that AML1-ETO triggered the epigenetic silencing of EYA4 gene by binding at AML1-binding sites and recruiting histone deacetylase 1 and DNA methyltransferases.						
27015871	EYA4	hypermethylation; loss of expression	Oral Squamous Cell Carcinoma	We previously identified EYA4 as frequently hypermethylated and silenced in premalignant disease based on an analysis of lesion-adjacent normal, dysplasia, and carcinoma in situ/squamous cell carcinoma tissues from the oral cavity. 									
25620232	EYA4	underexpression (hypermethylation)	Colorectal Carcinoma	We analyzed the EYA4 methylation status and found EYA4 promoter methylation in CRC cell lines (100%), CRC tissues (93.5%) and advanced adenoma tissues (50.7%), compared with normal mucosa (32.6%). There was a significant inverse correlation between EYA4 methylation and expression.									
25287138	EYA4	hypermethylation	Breast Carcinoma	Clustering also defined a hypermethylated luminal-enriched tumor cluster 3 that gene ontology analysis revealed to be enriched for homeobox and other developmental genes (ASCL2, DLK1, EYA4, GAS7, HOXA5, HOXA9, HOXB13, IHH, IPF1, ISL1, PAX6, TBX1, SOX1, and SOX17).									
24306662	EYA4	underexpression	Hepatocellular Carcinoma	EYA4 expression was inversely related to tumor size (P<0.050). Lower EYA4 expression and larger tumor size were independent predictors of both shorter DFS and OS, and higher Barcelona Clinic Liver Cancer (BCLC) staging was an independent predictor of shorter OS (all P<0.050).									
24096489	EYA4	loss of expression; hypermethylation; underexpression	Lung Carcinoma	EYA4 is frequently and concomitantly deleted, hypermethylated and underexpressed in multiple independent lung tumor data sets, in both major NSCLC subtypes and in the earliest stages of lung cancer.									
23867875	EYA4	aberrant methylation	Colorectal Intraepithelial Neoplasia	Aberrant methylation of the EYA4 gene (mEYA4) highly discriminates ulcerative colitis (UC) cases with colorectal neoplasia from UC controls in both tissue and stool. Sufficient DNA was available for 20 cases and 20 controls. The median mEYA4 level (with interquartile range) was 2 (0-5.7) in control mucosae but 93 (38.5-306) in CRC (P < 0.0001) and 27.4 (3-140) in NNM (P = 0.0009).									
22493696	EYA4	underexpression (hypermethylation)	Acute Lymphoblastic Leukemia	Twenty of the differentially methylated genes were hypermethylated in the ALL cells, and as many as nine of them (AMICA1, CPNE7, CR1, DBC1, EYA4, LGALS8, RYR3, UQCRFS1, WDR35) have functions in cell signaling and/or apoptosis.									
21731750	EYA4	hypermethylation	Adenocarcinoma In Situ	DNA methylation at CDKN2A ex2 and PTPRN2 is already significantly elevated in AAH, while CpG islands at 2C35, EYA4, HOXA1, HOXA11, NEUROD1, NEUROD2 and TMEFF2 are significantly hypermethylated in AIS.									
21400501	EYA4	hypermethylation	Colorectal Adenoma; Colorectal Carcinoma	The methylation patterns of 15 selected genes, hypermethylated in adenomas and carcinomas (FLI1, ST6GALNAC5, TWIST1, ADHFE1, JAM2, IRF4, CNRIP1, NRG1 and EYA4), in carcinomas only (ABHD9, AOX1 and RERG), or in MSI but not MSS carcinomas (RAMP2, DSC3 and MLH1) were validated using MS-HRM.									
21298349	EYA4	hypermethylation	Colorectal Carcinoma	We validated ten CpG sites that were hypermethylated (ADHFE1, BOLL, SLC6A15, ADAMTS5, TFPI2, EYA4, NPY, TWIST1, LAMA1, GAS7) and 2 CpG sites showing hypomethylation (MAEL, SFT2D3) in CRC compared to the normal mucosa in the array studies using pyrosequencing.									
19939248	EYA4	overexpression	Esophageal Squamous Cell Carcinoma	The hTERT and EYA4 mRNA positive expression increased according to disease severity.									
22421440	WHSC1L1	mutation	Pancreatic Adenocarcinoma	Importantly, 10% of the CCGs are involved in chromatin remodeling, including Arid4b, Kdm6a, and Nsd3, and all SB tumors have at least one mutated gene involved in this process; 20 CCGs, including Ctnnd1, Fbxo11, and Vgll4, are also significantly associated with poor patient survival.									
16670426	EYA4	aberrant methylation	Colon Carcinoma	APC and EYA4 were confirmed as being differentially methylated in colon cancer patients whereas GSK3beta did not show differential methylation.									
16469682	EYA4	hypermethylation	Colorectal Carcinoma	Within noncolitic tissues, bisulfite sequencing showed EYA4 promoter hypermethylation in 80% (8 of 10) of colorectal cancers but in none (0 of 9) of the normal tissues.									
15824152	EYA4	underexpression (hypermethylation)	Esophageal Adenocarcinoma	EYA4 EYA4 hypermethylation was detected in 83% (33 of 40) of esophageal adenocarcinomas and 77% (27 of 35) of Barrett's tissues, but only in 3% (2 of 58) of normal esophageal and gastric mucosa samples (P < 0.001). The unmethylated cancer cell lines had much higher EYA4 mRNA expression than the methylated cancer cell lines.									
27082308	EYA1	overexpression	Breast Carcinoma	Moreover, an increased expression of EYA1 was also found in breast cancer tissues and cell lines.	miR101	negative regulation	Western blot analysis demonstrated a significantly decreased protein level of EYA1 in the SKBR3 cells transfected with miR101 mimic, whereas transfection with miR101 inhibitor led to an increased level of EYA1.						
26370624	EYA1	underexpression	Glioma 	Proteins namely, SNX1, EYA1, PQBP1 and IGHG1 showed dysregulation across various grades.									
24729159	EYA1	underexpression	Gastric Carcinoma	The EYA1 expression decreased significantly in gastric tumor tissues compared with adjacent normal tissues.									
23636126	EYA1	overexpression	Breast Carcinoma	Herein, comparison with normal breast showed that EYA1 is overexpressed with cyclin D1 in luminal B breast cancer subtype.									
21990320	EYA1	hypermethylation	Gastric Carcinoma	The 3 epigenotypes were characterized by 3 groups of genes: genes methylated specifically in the EBV(+) tumors (e.g., CXXC4, TIMP2, and PLXND1), genes methylated both in EBV(+) and EBV(-)/high tumors (e.g., COL9A2, EYA1, and ZNF365), and genes methylated in all of the gastric cancers (e.g., AMPH, SORCS3, and AJAP1).									
22634756	ARID2	mutation	Hepatocellular Carcinoma	Multiple chromatin regulators, including ARID1A, ARID1B, ARID2, MLL and MLL3, were mutated in 50% of the tumors									
18671248	EYA1	overexpression	Neuroblastic Tumor	Five genes overexpressed in NTs-SP encode for nuclear proteins (CENPF, EYA1, PBK, TOP2A, TFAP2B), whereas only 1 of 11 highly expressed genes in NTs-SR encodes for a nuclear receptor (NR4A2).									
12057921	EYA1	overexpression	Kidney Wilms Tumor	Automated clustering identified a smaller group of 27 genes that were highly expressed in WTs compared to fetal kidney and heterologous tumor and normal tissues. This signature set was enriched in genes encoding transcription factors. Four of these, PAX2, EYA1, HBF2, and HOXA11, are essential for cell survival and proliferation in early metanephric development, whereas others, including SIX1, MOX1, and SALL2, are predicted to act at this stage. 									
26837415	EYA2	overexpression	Lung Adenocarcinoma	Here we found that miR-30a was decreased in lung adenocarcinoma A549 cells and in tissue samples from 14 patients by qRT-PCR, and also found that overexpression of miR-30a in A549 cells inhibited migration and invasion but not cell proliferation and cell cycle progression by wound-healing assay, matrigel invasion assay, MTS-based cell proliferation assay, and flow cytometry-based cell cycle analysis, respectively. Taken together, our results demonstrate that overexpression of miR-30a in lung adenocarcinoma A549 cells can inhibit cell migration and invasion, which is partially attributed to the decrease of EYA2 expression.	miR-30a	negative regulation	We demonstrated that EYA2 is a direct target of miR-30a by using the dual-luciferase reporter assay in A549 cells and showed that EYA2 protein levels are inversely correlated with miR-30a expression in A549 and BEAS-2B cells.						
26329363	EYA2	 overexpression (hypomethylation)	Lung Adenocarcinoma	We found that EYA2 was aberrantly upregulated in the lung adenocarcinoma cells. The results showed that the aberrant hypomethylation and overexpression of the eya2 gene were associated with lung adenocarcinoma oncogenesis.									
24810906	EYA2	loss of expression	Pancreatic Carcinoma	We found loss of tumoral Eya2 expression in 63% of pancreatic cancers (120/189 cases).									
24508260	EYA2	overexpression	Breast Carcinoma	Moreover, miR-30a expression was downregulated in breast cancer patients, and negatively correlated with Eya2, which was upregulated in breast cancer patients.	miR-30a	negative regulation	Here, we show that miR-30a represses Eya2 expression by binding to the 3'-untranslated region of Eya2.						
22987659	EYA2	overexpression	Cervical Carcinoma	Concurrent altered expression in hgCIN and/or cervical carcinomas compared with normal cervical samples was shown for ATP13A3, HES1, OPA1, HRASLS, EYA2, ZMYND8, APOBEC2, and NCR2. Gene silencing of EYA2 significantly reduced viability, migratory capacity, and anchorage-independent growth of HPV16-transformed keratinocytes.									
19950702	EYA2	overexpression	Lung Adenocarcinoma	EYA2 expression was significantly up-regulated in adenocarcinoma, while not changed in lung squamous cell carcinoma.									
22634756	ARID1B	mutation	Hepatocellular Carcinoma	Multiple chromatin regulators, including ARID1A, ARID1B, ARID2, MLL and MLL3, were mutated in 50% of the tumors.									
19414679	EYA2	SNP	Non-Small Cell Lung Carcinoma	Five of the top 50 SNPs were validated in the Norwegian cohort with false discovery rate lower than 0.05 (P < .016) and all five were located in known genes: STK39, PCDH7, A2BP1, and EYA2.									
18086775	EYA2	hypermethylation	Colorectal Intraepithelial Neoplasia	This study shows BMP3, EYA2, ALX4, and vimentin genes are methylated in most colorectal neoplasms but rarely in normal epithelia.									
15705892	EYA2	overexpression	Malignant Ovarian Neoplasm	EYA2 mRNA was found to be up-regulated in ovarian cancer by real-time reverse transcription-PCR, whereas its protein product was detected in 93.6% of ovarian cancer specimens by immunohistochemistry (n = 140).									
12039049	EYA2	overexpression	Neuroblastoma	Interestingly, EYA2 was expressed in several neuroblastoma cell lines as four distinct transcripts having alternative 5'-ends, whereas only one EYA2 transcript was expressed in the normal human eye.									
22929312	ASXL1	mutation	Acute Myeloid Leukemia	We developed a new combination of high-resolution melting assays on a LightCycler 480 and direct sequencing to detect somatic mutations of ASXL1 (exon 12), IDH1 (exon 4), IDH2 (exon 4), and c-CBL (exons 8 and 9) genes to know their incidence and prognostic effect in a cohort of 175 patients with de novo AML: 16 patients (9%) carried ASXL1 mutations, 16 patients had IDH variations (3% with IDH1(R132) and 6% with IDH2(R140)), and none had c-CBL mutations.				NPM1	correlation	Alternatively, NPM1 mutations were concurrently found with ASXL1, IDH1, or IDH2 with a variable incidence.			
26625313	EP400	altered expression	Bladder Carcinoma	We uncovered that MLL, EP400, PRDM2, ANK3 and CHD5 exclusively altered in recurrent BCs.				MLL; PRDM2; ANK3; CHD5 	exclusively alteration	We uncovered that MLL, EP400, PRDM2, ANK3 and CHD5 exclusively altered in recurrent BCs.			
24755471	EP400	mutation	Colorectal Carcinoma	Furthermore, we documented mutations enriched in genes involved in chromatin remodeling (ARID1A, CHD6, and SRCAP) and histone methylation or acetylation (ASH1L, EP300, EP400, MLL2, MLL3, PRDM2, and TRRAP).									
22929312	IDH1	mutation	Acute Myeloid Leukemia	We developed a new combination of high-resolution melting assays on a LightCycler 480 and direct sequencing to detect somatic mutations of ASXL1 (exon 12), IDH1 (exon 4), IDH2 (exon 4), and c-CBL (exons 8 and 9) genes to know their incidence and prognostic effect in a cohort of 175 patients with de novo AML: 16 patients (9%) carried ASXL1 mutations, 16 patients had IDH variations (3% with IDH1(R132) and 6% with IDH2(R140)), and none had c-CBL mutations.				ASXL1; IDH2; NPM1	correlation	Patients with ASXL1 mutations did not harbor IDH1, [corrected] or CEBPA mutations, and a combination of ASXL1 and IDH2 mutations was found only in one patient. IDH1 and IDH2 mutations were mutually exclusive. Alternatively, NPM1 mutations were concurrently found with ASXL1, IDH1, or IDH2 with a variable incidence.			
23982490	EP400	loss of expression; underexpression	Renal Cell Carcinoma	Complete loss of p400 expression was detected in 64% of all tumor specimens, and decreased p400 expression was associated with advanced tumor stage, higher grade of malignancy and regional lymph node metastasis.									
22944197	HDAC7	underexpression	Bladder Urothelial Carcinoma	Prominent changes in UCCs were HDAC2 and/or HDAC8 up-regulation in 11 of 18 cell lines and decreased expression of HDAC4, HDAC5, and/or HDAC7 mRNA in 15 of 18 cell lines.									
23508829	EP400	mutation (loss of function)	Acute Lymphoblastic Leukemia	Whole-exome- and whole-genome-sequencing of MHH-CALL-2 revealed homozygous non-synonymous coding mutations predicted to be deleterious for the protein function of 63 genes, among them known cancer-associated genes, such as FANCA, NF1, TCF7L2, CARD11, EP400, histone demethylases, and transferases (KDM6B, KDM1A, PRDM11).									
27152066	ERCC6	polymorphism	Bladder Carcinoma	Genetic and molecular abnormalities - risk factors are represented by miRNA or genetic polymorphisms proved to be part of bladder carcinogenesis such as: genetic mutations of oncogenes TP53, Ras, Rb1 or p21 oncoproteins, cyclin D or genetic polymorhisms of XPD,ERCC1, CYP1B1, NQO1C609T, MDM2SNP309, CHEK2, ERCC6, NRF2, NQO1Pro187Ser polymorphism and microRNA (miR-143, -145, -222, -210, -10b, 576-3p).									
26344056	ERCC6	underexpression	Familial Colorectal Carcinoma	A detailed analysis of immortalized patient-derived B cells that contained variants in the Werner syndrome, RecQ helicase-like gene (WRN, encoding T705I), and excision repair cross-complementation group 6 (ERCC6, encoding N180Y) showed reduced levels of these proteins and increased DSBs, compared with B cells from controls.									
24586594	ERCC6	SNP	Gastric Carcinoma	An interaction effect of pri-let-7a-1 rs10739971 polymorphism with ERCC6 rs1917799 polymorphism was observed for the risk of gastric cancer (P interaction=0.026); and interaction effects of pri-let-7a-1 rs10739971 polymorphism with PGC rs6458238 polymorphism (P interaction=0.012) and PGC rs9471643 polymorphism (P interaction=0.039) were observed for the risk of atrophic gastritis.									
24475022	ERCC6	altered expression	Colorectal Carcinoma	The most amplified markers were CD248, ERCC6, ERGIC3, GNAS, MMP2, NF1, P2RX7, SFRS6, SLC29A1 and TBX22.									
24289633	ERCC6	SNP	Gastric Carcinoma	ERCC6 rs1917799 GG genotype might be associated with increased GC risk in Chinese, especially in males.									
23720401	ERCC6	SNp	Malignant Head and Neck Neoplasm	Among African Americans, rs4253132 on ERCC6 was associated with decreased HNC odds (CC+CT vs. TT; OR, 0.62; 95% CI, 0.45-0.86).									
23659246	ERCC6	SNP	Melanoma	Significant associations with melanoma risk were identified for SNPs in ERCC4, ERCC6, RFC1, XPC, MGMT, and FBRSL1 genes; with a cutoff of P < 0.05. ERCC6 and FBRSL1 gene variants and haplotypes interacted with indoor tanning.									
22336945	ERCC6	SNP	Skin Carcinoma	Using the additive model, two tightly linked functional SNPs in ERCC6 were significantly associated with increased risk of NMSC: rs2228527 (odds ratio (OR) 1.57, 95% confidence interval (CI) 1.20-2.05) and rs2228529 (OR 1.57, 95% CI 1.20-2.05).									
21643987	ERCC6	mutation	Anaplastic Glioma	In this dataset, eight gene variants mapping to five different DNA repair genes (ATM, NEIL1, NEIL2, ERCC6 and RPA4) which were associated with survival.									
20044625	ERCC6	SNP	Bladder Carcinoma	Those who had homozygous A/A or heterozygous A/G at ERCC6 codon 399 showed a 1.97- and 1.04-fold (95% confidence interval=1.29-3.01 and 0.71-1.53, respectively) increased risk of bladder cancer compared to those with G/G.									
19626602	ERCC6	polymorphism	Lung Carcinoma	When the African American women were categorized into quartiles, a significant reverse trend of decreased G(2)/M checkpoint function and increased lung cancer risk was present, with lowest-vs.-highest quartile OR of 13.72 (95% CI = 2.30-81.92, p(trend) < 0.01). Genotype-phenotype correlation analysis indicated that polymorphisms in ATM, CDC25C, CDKN1A, BRCA2, ERCC6, TP53, and TP53BP1 genes were significantly associated with the gamma-radiation-induced G(2)/M arrest phenotype.									
19444904	ERCC6	polymorphism	Laryngeal Carcinoma	Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms in ERCC5, ERCC6 and RAD23B but not by polymorphisms in five other nucleotide excision repair genes.									
18789574	ERCC6	SNP	Lung Carcinoma	However, the combined variant genotypes of the four loci with P(trend) approaching to 0.10 (rs2228526, rs4253160, rs12571445 and rs3793784) were associated with a significantly increased lung cancer risk (adjusted OR 1.35, 95% CI, 1.04-1.75 among subjects carrying three or more variant alleles), indicating that multiple loci in ERCC6 may jointly contribute to the susceptibility of lung cancer.									
17933579	ERCC6	polymorphism	Lip and Oral Cavity Carcinoma	We found a significant different distribution in the frequency of the ERCC6 codon 399 genotypes, but not the ERCC6 codon 1097 or 1413 genotypes, between the oral cancer and control groups.									
17855454	ERCC6	SNP	Lung Carcinoma	SNPs associated with prognosis mapped primarily to two repair pathways--nucleotide excision repair (NER): ERCC5 D1104H (P = 0.004); ERCC6 G399D (P = 0.023), ERCC6 Q1413R (P = 0.025), POLE (P = 0.014) and base excision repair: APEX1 D148E (P = 0.028); EXO1 E670G (P = 0.007); POLB P242R (P = 0.018).									
17854076	ERCC6	SNP	Lung Carcinoma	Our data constituted strong evidence that ERCC6 rs3793784:C>G alters its transcriptional activity and may confer personalized susceptibility to lung cancer.									
17119055	ERCC6	polymorphism	Colorectal Carcinoma	Our study suggests that genetic polymorphisms in the NER genes, ERCC6 and XPC, may be associated with an increased risk of colorectal cancer.									
16951227	ERCC6	altered expression	Colorectal Carcinoma	Tumor-normal differential expression was found in 13 of 20 DNA repair pathway genes (only XPA had a lower RNA level in the tumor samples; the other 12 genes had significantly higher tumor levels, all P<0.01). Coordinated expression of ERCC6, HMG1, MSH2, and POLB (RS>or=0.60) was observed in the tumor tissues (all P<0.001).									
15746040	ERCC6	polymorphism	Bladder Carcinoma	The ERCC6 (Met(1097)Val) polymorphism had a significant impact on recurrence: carriers of at least one variant allele (Val) had a significantly higher recurrence risk than carriers of the wild-type allele (Met/Met; hazard ratio, 1.54; 95% confidence interval, 1.02-2.33).									
11900225	ERCC6	underexpression	Head and Neck Squamous Cell Carcinoma 	Reduced expression of ERCC1, XPB/ERCC3, XPG/ERCC5, and CSB/ERCC6 is associated with a more than two-fold increased risk of SCCHN.									
11438483	ERCC6	copy number loss	Glioblastoma	Allelic loss of 10q is a common genetic event in malignant gliomas, with three 10q tumor suppressor genes, ERCC6, PTEN, and DMBT1, putatively implicated in the most common type of malignant glioma, glioblastoma.									
10910954	ERCC6	underexpression	Lung Carcinoma	We observed a 12.2 and 12.5% decrease in the baseline expression levels of XPG/ERCC5 and CSB/ERCC6, respectively, in cases compared with controls.									
26484266	FXR1	overexpression	Lung Carcinoma	We further demonstrated one of the 12 top amplified driver Fragile X mental retardation-related protein 1 (FXR1) as a novel cancer gene in NSCLC and FXR1 executes its regulatory function by forming a novel complex with two other oncogenes, protein kinase C, iota ( PRKCI) and epithelial cell transforming 2 (ECT2) within the same amplicon in lung cancer cell.				PRKCI; ECT2	form complex	We further demonstrated one of the 12 top amplified driver Fragile X mental retardation-related protein 1 (FXR1) as a novel cancer gene in NSCLC and FXR1 executes its regulatory function by forming a novel complex with two other oncogenes, protein kinase C, iota ( PRKCI) and epithelial cell transforming 2 (ECT2) within the same amplicon in lung cancer cell.			
26404134	FXR1	overexpression	Colorectal Carcinoma	We found that the average plasma FXR1 level in CRC was significantly higher than that in healthy controls (P<0.001). Moreover, the plasma expression of FXR1 in stage IV patients was dramatically higher than that in stage I, stage II, and stage III patients (P<0.001).									
25733852	FXR1	overexpression	Non-Small Cell Lung Carcinoma	Here we demonstrate that FXR1 is a key regulator of tumor progression and its overexpression is critical for nonsmall cell lung cancer (NSCLC) cell growth in vitro and in vivo.									
23881279	FXR1	underexpression	Prostate Carcinoma	PKP1 and FXR1 were strongly reduced in tumor tissues with Gleason score >7 and diminished expression of PKP1 and FXR1 also appeared to be associated with a metastatic phenotype.									
17290396	FXR1	overexpression	Squamous Cell Lung Carcinoma	Three genes, namely FXR1, CLAPM1 and EIF4G, are most frequently overexpressed in the center of the amplified domain in squamous cell carcinomas.									
22944197	HDAC4	underexpression	Urothelial Carcinoma	Prominent changes in UCCs were HDAC2 and/or HDAC8 up-regulation in 11 of 18 cell lines and decreased expression of HDAC4, HDAC5, and/or HDAC7 mRNA in 15 of 18 cell lines.									
27191985	HELLS	overexpression	Prostate Carcinoma	ZIC5 mRNA was up-regulated 17 fold (p = 8.4E-07), ZIC2 8 fold (p = 1.3E-05) and HELLS 2 fold (p = 0.006) in GG3 glands derived from GS 4 + 3 = 7. HELLS expression of �?1% occurred in 10% GS < 7, 17% GS 7 and 43% GS >7 prostate cancer (p < 0.001).									
25338120	HELLS	overexpression	Retinoblastoma	Using orthotopic human xenografts, we validated that upregulation of HELLS and UHRF1 is essential for the tumor phenotype.									
22157815	HELLS	overexpression	Prostate Carcinoma	Strikingly, just as E2F3, HELLS is overexpressed in human tumours including prostate cancer, indicating that either factor may contribute to the malignant progression of tumours.				E2F3B	coorperation	Here, E2F3B interaction partners were identified by mass spectrometric analysis. We show that the SNF2-like helicase HELLS interacts with E2F3A in vivo and cooperates with its oncogenic functions. Depletion of HELLS severely perturbs the induction of E2F-target genes, hinders cell-cycle re-entry and growth.			
22109759	HELLS	overexpression	Oropharyngeal Squamous Cell Carcinoma	HELLS FOXM1, CEP55, and HELLS were all overexpressed in oropharyngeal squamous cell carcinoma tissue when compared to normal tissue.									
20400365	HELLS	overexpression	Head and Neck Squamous Cell Carcinoma	Low level of HELLS expression was detected in the basal cell layer of the normal oral mucosa, moderate level was seen in dysplasia and high levels in both HNSCC and LnMet.									
23222069	PBRM1	mutation	Kidney Carcinoma	The recent sequencings of whole exomes have described frequent mutations in other genes of the SWI/SNF complex: mutations in ARID1A in liver, gastric or bladder carcinomas, and PBRM1 mutations in renal cancers.									
10910076	HELLS	mutation	Leukemia	Examination of acute myelogenous leukemia and acute lymphoblastic leukemia samples revealed a high frequency of a PASG transcript containing an in-frame 75-nucleotide deletion, which codes for a conserved motif known to be critical for the transactivation activity of a related yeast SWI/SNF polypeptide.									
26999840	PHF20	underexpression	Laryngeal Squamous Cell Carcinoma	The expressions of Bax and PHF20 were both significantly lower in the LSCC tissue than that in the normal laryngeal tissue (P < 0.01).									
26722404	PHF20	underexpression	Non-Small Cell Lung Carcinoma	PHF20 expression was significantly higher in normal lung tissues than that in NSCLC tissues.				Bax	association	We also found that the expression of PHF20 was associated with Bax expression.			
16865272	PHF20	overexpression	Non-Small Cell Lung Carcinoma; Lung Adenocarcinoma	We also identified 68 genes that were abundantly expressed both in advanced SCLCs and advanced adenocarcinomas (ADCs), both of which had been obtained from patients with extensive chemotherapy treatment. Some of them are known to be transcription factors and/or gene expression regulators such as TAF5L, TFCP2L4, PHF20, LMO4, TCF20, RFX2, and DKFZp547I048 as well as those encoding nucleotide-binding proteins such as C9orf76, EHD3, and GIMAP4.									
12097419	PHF20	overexpression	Colon Carcinoma; Malignant Ovarian Neoplasm	Four other Ags were identified to be expressed in particular types of cancer cell lines (HCA520 in an ovarian cancer cell line, HCA59 and HCA67 in a colon cancer cell line, HCA58 in colon and ovarian cancer cell lines), but not in the normal tissue counterpart(s).									
12660824	PHC1	overexpression	Testicular Germ Cell Tumor	Genes such as CCND2, GLU3, LRP6 and HPH1 at 12p13 were also overexpressed.									
27183383	PHF8	overexpression	Breast Carcinoma	USP7 was overexpressed in breast carcinomas, and the level of expression positively correlated with expression of PHF8 and cyclin A2 and with the histological grade of breast cancer.	USP7	positive regulation	We showed that USP7 promotes breast carcinogenesis by stabilizing PHF8 and upregulating cyclin A2 and that the interaction between USP7 and PHF8 is augmented during DNA damage.						
26309412	PHF8	overexpression	Prostate Carcinoma	Plant homeodomain finger protein 8 (PHF8) is upregulated in human PCa tissues and cell lines.							miR-125b	regulation	Furthermore, miR-125b is a target of PHF8, and miR-125b seems to be essential for the hyper proliferation of PCa cells in the presence of PHF8.
25065740	PHF8	overexpression	Non-Small Cell Lung Carcinoma	PHF8 is up-regulated in human NSCLC tissues, and high PHF8 expression predicts poor survival.							miR-21	positive regulation	PHF8 promotes miR-21 expression in human lung cancer, and miR-21 knockdown blocks the effects of PHF8 on proliferation and apoptosis of lung cancer cells.
22120715	PHF8	overexpression	Prostate Carcinoma	Our results show that the KDMs JARID1B, PHF8, KDM3A, KDM3B and KDM4A were highly expressed in clinical PrCa samples.									
27537276	PHF1	mutation	Ossifying Fibromyxoid Tumor	Recurrent gene fusions involving either PHF1 or BCOR have been found in 85% of OFMT, including typical and malignant examples.									
23222069	SMARCA4	mutation	Rare Rhabdoid Tumor; Medulloblastoma	Rare rhabdoid tumors have mutation in SMARCA4, a genetic abnormality also found in some medulloblastomas.									
23475622	SIRT5	underexpression	Head and Neck Squamous Cell Carcinoma	Our results demonstrated that the expression levels of SIRT1, SIRT2, SIRT3, SIRT5, SIRT6, and SIRT7 were significantly downregulated in cancerous tissues compared with noncancerous tissues (all p<0.01).									
26429873	PHF1	mutation	Endometrioid Stromal Sarcoma	All three LG-ESSs exhibited either one of JAZF1-SUZ12, JAZF1-PHF1 and MEAF6-PHF1 fusions, whereas the two UUSs did not.				JAZF1	Fusion	All three LG-ESSs exhibited either one of JAZF1-SUZ12, JAZF1-PHF1 and MEAF6-PHF1 fusions, whereas the two UUSs did not.			
25867764	PHF1	mutation	Malignant Soft Tissue Neoplasm	Three novel (KIAA2026-NUDT11, CCBL1-ARL1, and AFF3-PHF1) and two previously known fusions (FUS-CREB3L2 and HAS2-PLAG1) were found and could be verified by other methods.				AFF3	Fusion	Three novel (KIAA2026-NUDT11, CCBL1-ARL1, and AFF3-PHF1) and two previously known fusions (FUS-CREB3L2 and HAS2-PLAG1) were found and could be verified by other methods.			
25288234	PHF1	mutation	Endometrioid Stromal Sarcoma	Thirteen (81.3%) of 16 LGESSs with interpretable results showed JAZF1 and/or PHF1 genetic rearrangements by fluorescence in situ hybridization, and the only HGESS in the series showed YWHAE genetic rearrangement.									
24530230	PHF1	mutation	Endometrioid Stromal Sarcoma	The chimeric transcripts described in endometrial stromal sarcomas (ESS) are JAZF1/SUZ12, YWHAE/FAM22, ZC3H7/BCOR, MBTD1/CXorf67, and recombinations of PHF1 with JAZF1, EPC1, and MEAF6.									
23475622	SIRT3	underexpression	Head and Neck Squamous Cell Carcinoma	Our results demonstrated that the expression levels of SIRT1, SIRT2, SIRT3, SIRT5, SIRT6, and SIRT7 were significantly downregulated in cancerous tissues compared with noncancerous tissues (all p<0.01).									
23959973	PHF1	mutation	Endometrioid Stromal Sarcoma	In conventional low-grade ESS, JAZF1-SUZ12, PHF1-JAZF1, EPC1-PHF1 and MEAF6-PHF1, and recently described ZC3H7-BCOR chimeric fusions have been reported in > 50% of cases.				JAZF1	Fusion	In conventional low-grade ESS, JAZF1-SUZ12, PHF1-JAZF1, EPC1-PHF1 and MEAF6-PHF1, and recently described ZC3H7-BCOR chimeric fusions have been reported in > 50% of cases.			
23887158	PHF1	mutation	Ossifying Fibromyxoid Tumor	PHF1 rearrangements were detected in 20 of 41 cases (49%) including 43% typical, 50% atypical, and 52% malignant cases.									
23484688	ASXL1	mutation	Acute Promyelocytic Leukemia with PML-RARA	Next, there were 12 cases WT1 mutation, 9 for FLT3-TKD, 7 for TET2, 5 for N-RAS, 4 for ASXL1, 2 for EZH2 mutation and 1 positive case in MLL-PTD, IDH1 and CBL mutation respectively.									
22796436	PHF1	mutation	Ossifying Fibromyxoid Tumor	Mapping of the 6p21 breakpoint by fluorescence in situ hybridization (FISH) indicated that the PHF1 gene was rearranged in all three cases.									
22761769	PHF1	mutation	Endometrioid Stromal Sarcoma	Here, we show that PHF1 is recombined with a novel fusion partner, MEAF6 from 1p34, in an ESS carrying a t(1;6)(p34;p21) translocation as the sole karyotypic anomaly.				MEAF6	Fusion	Here, we show that PHF1 is recombined with a novel fusion partner, MEAF6 from 1p34, in an ESS carrying a t(1;6)(p34;p21) translocation as the sole karyotypic anomaly.			
21836477	PHF1	mutation	Endometrioid Stromal Sarcoma	Rearrangements were detected in 42 of 78 (54%) uterine ESTs, with JAZF1-SUZ12 fusion found in 50% of ESNs and in 33% of ESSs and JAZF1-PHF1 and EPC1-PHF1 fusions found in 1% and <1% of ESSs, respectively.				JAZF1	Fusion	Rearrangements were detected in 42 of 78 (54%) uterine ESTs, with JAZF1-SUZ12 fusion found in 50% of ESNs and in 33% of ESSs and JAZF1-PHF1 and EPC1-PHF1 fusions found in 1% and <1% of ESSs, respectively.			
16397222	PHF1	mutation	Endometrioid Stromal Sarcoma	All three tumors showed specific rearrangement of the PHD finger protein 1 (PHF1) gene, located in chromosomal band 6p21.									
27698851	PHF6	mutation	T Acute Lymphoblastic Leukemia	A total of 4 novel DNM2 mutations were identified in adult T-ALL patients, with a mutation rate of 9.5%, and the DNM2 mutations were found to co-exist with NOTCH1 and PHD finger protein 6, and were also associated with high-risk leukemia.									
23484688	IDH1	mutation	Acute Promyelocytic Leukemia with PML-RARA	Next, there were 12 cases WT1 mutation, 9 for FLT3-TKD, 7 for TET2, 5 for N-RAS, 4 for ASXL1, 2 for EZH2 mutation and 1 positive case in MLL-PTD, IDH1 and CBL mutation respectively.									
26561469	PHF6	aberrant expression	Breast Carcinoma; Colorectal Carcinoma; Esophageal Neoplasm	The results demonstrated that although PHF6 has been previously known as a tumor suppressor gene, it was remarkably overexpressed in many cancer types such as breast and colorectal cancers. Notably, PHF6 was under-expressed in a few types of cancer, including esophageal tumors.									
26341754	PHF6	mutation	T Acute Lymphoblastic Leukemia	Mutant PHF6 was present in 13 and 20.7 % of our childhood and adult cohorts, respectively, while PTEN mutations were noted in 11.1 % of the pediatric patients.									
25595890	PHF6	mutation	T Acute Lymphoblastic Leukemia	Mutation frequencies of FBXW7 (10%), WT1 (10%), JAK3 (12%), PHF6 (11%), and BCL11B (10%) were in line with previous reports.									
24919120	PHF6	overexpression	Glioblastoma	Analysis of PHF6 expression showed significant upregulation in glioblastoma as compared to normal tissue.									
24895337	PHF6	inactivation 	T Acute Lymphoblastic Leukemia	Inactivation of the PHF6 gene is frequently observed in T-cell acute lymphoblastic leukemia, suggesting an important tumor suppressive role for PHF6 in the pathobiology of this leukemia.									
23628959	ASXL1	mutation	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative	SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.				SETBP1mut	association	Moreover, SETBP1mut were strongly associated with ASXL1 and CBL mutations (P<0.001 for both) and were mutually exclusive of JAK2 and TET2 mutations.			
23354995	PHF6	mutation	T Acute Lymphoblastic Leukemia	Eight patients (28 %; six males and two females) had PHF6 mutations including four novel mutations.									
23341344	PHF6	mutation	T Acute Lymphoblastic Leukemia	NOTCH1 was the most frequently mutated gene with a 71.1% frequency followed by FBXW7 (18.9%), PHF6 (39.5%), DNMT3A (17.8%), RUNX1 (15.5%), PTEN (10.0%), CDKN2A (4.4%), FLT3-ITD (2.2%), and FLT3-TKD (1.1%).									
23114116	PHF6	mutation	T Acute Lymphoblastic Leukemia	PHF6 and NOTCH1 gene mutations were found in 4 and 5 out of 6 SET-NUP214 positive T-ALL patients, respectively.									
22417203	PHF6	mutation	Acute Myeloid Leukemia	We found that internal tandem duplication in FLT3 (FLT3-ITD), partial tandem duplication in MLL (MLL-PTD), and mutations in ASXL1 and PHF6 were associated with reduced overall survival (P=0.001 for FLT3-ITD, P=0.009 for MLL-PTD, P=0.05 for ASXL1, and P=0.006 for PHF6); CEBPA and IDH2 mutations were associated with improved overall survival (P=0.05 for CEBPA and P=0.01 for IDH2).									
21880637	PHF6	mutation; copy number loss	T Acute Lymphoblastic Leukemia	PHF6 mutations were identified in 11/59 (18.6%) adult and 2/37 (5.4%) pediatric cases of T-cell acute lymphoblastic leukemia, these incidences being significantly lower than those recently reported. PHF6 deletions were detected in 2/79 (2.5%) patients analyzed.									
21736506	PHF6	mutation	T Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia	In the hematologic malignancies, there were 11 PHF6 mutations that were detected not only in T-ALL (34.7%) (five adult and three childhood T-ALL), but also in two AML (1.9%) (one acute monocytic leukemia and one AML minimally differentiated).									
21030981	PHF6	mutation (loss of function)	T Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia	Loss of function mutations and deletions encompassing the plant homeodomain finger 6 (PHF6) gene are present in about 20% of T-cell acute lymphoblastic leukemias (ALLs). Genetic lesions in PHF6 found in AMLs are frameshift and nonsense mutations distributed through the gene or point mutations involving the second plant homeodomain (PHD)-like domain of the protein.									
20228800	PHF6	mutation (loss of function)	T Acute Lymphoblastic Leukemia	In this study, we report the identification of inactivating mutations and deletions in the X-linked plant homeodomain finger 6 (PHF6) gene in 16% of pediatric and 38% of adult primary T-ALL samples.									
27041549	PYGO2	overexpression	Esophageal Squamous Cell Carcinoma	Eleven out of 48 patients (22.9 %) have shown the concomitant MAML1/PYGO2 over expression in significant correlation with tumor size (p = 0.046) and depth of tumor invasion (p = 0.050).									
26902498	PYGO2	overexpression	Glioma	In the present study, we discovered that Pygo2 mRNA and protein levels were up-regulated in the majority of (152/209) human brain glioma tissues and five glioma cell lines, and significantly correlated with the age, the WHO tumor classification and poor patient survival.							 Wnt pathway	positive regulation	Further, we demonstrated that the involvement of Pygo2 in the activation of the Wnt pathway in human glioma progression is through up-regulation of the H3K4me3 (but not H3K4me2) by promoting the recruitment of the histone methyltransferase MLL1/MLL2 complex to Wnt target gene promoters.
26643817	PYGO2	overexpression	Esophageal Squamous Cell Carcinoma	Although, there was not any significant correlation between the levels of Msi1 and PYGO2 mRNA expression, we observed a significant correlation between the Msi1 and PYGO2 overexpressed cases and depth of tumor invasion (p = 0.05).									
25869613	PYGO2	overexpression	Glioma	Our previous study has demonstrated that Pygo2 is highly expressed in and promotes the growth of glioma cells. In the current study, we investigated the role of Pygo2 in human glioma U251 cells and showed that knocking down of the expression of Pygo2 in U251 cells using lentivirally expressed siRNA have inhibited cell proliferation and increased apoptosis through decreasing H3K4me3 expression.							H3K4me3	positive regulation	In the current study, we investigated the role of Pygo2 in human glioma U251 cells and showed that knocking down of the expression of Pygo2 in U251 cells using lentivirally expressed siRNA have inhibited cell proliferation and increased apoptosis through decreasing H3K4me3 expression.
25797263	PYGO2	overexpression	Hepatocellular Carcinoma	 Herein, we report that the expression of miR-432 was markedly downregulated in hepatocellular carcinoma cell lines and tissues, and upregulation of miR-432 inhibited, whereas downregulation of miR-432 enhanced the proliferation and tumorigenicity of hepatocellular carcinoma cells both in vitro and in vivo. Furthermore, miR-432 directly targeted and suppressed multiple regulators of the Wnt/β-catenin signaling cascade, including LRP6, TRIM29 and Pygo2, which subsequently deactivated Wnt/β-catenin signaling pathway.	miR-432	negative regulation	Furthermore, miR-432 directly targeted and suppressed multiple regulators of the Wnt/β-catenin signaling cascade, including LRP6, TRIM29 and Pygo2, which subsequently deactivated Wnt/β-catenin signaling pathway.						
25545771	PYGO2	overexpression	Hepatocellular Carcinoma	Real-time polymerase chain reaction (PCR) analysis of the mRNA levels of Pygo2 in 50 paired HCC cancer/adjacent non-cancerous tissues showed that Pygo2 mRNA expression was significantly higher in cancerous tissues (P = 0.009).									
24348855	PYGO2	overexpression	Lung Carcinoma	The present study showed that Pygo2 is overexpressed in human lung cancer tissue samples and cell lines.				β-catenin	correlation	Expression levels of Pygo2 were found to correlate with cytosolic β-catenin protein levels in the samples examined.			
23865714	PYGO2	overexpression	Lung Carcinoma	Immunohistochemical analysis showed low expression of Pygo2 in normal lung tissues and increased nuclear expression in lung cancer tissues, either with or without perinuclear expression.									
23456637	PYGO2	overexpression	Esophageal Squamous Cell Carcinoma	Significant PYGO2 and EGFR overexpression was observed in 30.9 % (P = 0.017) and 38.2 % (P = 0.006) of tumors, respectively.									
20514431	PYGO2	overexpression	Villous Adenoma	Genes involved in canonical Wnt (beta-catenin) signaling with increased expression in villous adenomas included wnt1, fz2, csnk2A2, pygo2, pygo1, frat2 and myc, the latter confirmed by qRT-PCR and IHC.									
20204459	PYGO2	overexpression	Glioma	In the present study, Pygo2 expression was evaluated in 80 glioma tissue samples. Results demonstrated that tumor grade exhibited a positive correlation with overexpression of Pygo2.									
26432191	SFMBT1	mutation	Aneurysmal Benign Fibrous Histiocytoma 	RNA sequencing of an aneurysmal benign fibrous histiocytoma with the karyotype 46,XY,t(3;11)(p21;q13),del(6)(p23)[17]/46,XY[2] showed that the t(3;11) generated two fusion genes: LAMTOR1-PRKCD and NUMA1-SFMBT1.				NUMA1	Fusion	RNA sequencing of an aneurysmal benign fibrous histiocytoma with the karyotype 46,XY,t(3;11)(p21;q13),del(6)(p23)[17]/46,XY[2] showed that the t(3;11) generated two fusion genes: LAMTOR1-PRKCD and NUMA1-SFMBT1.			
22483639	SFMBT1	copy number loss	Clear Cell Renal Cell Carcinoma	Gene deletions involved in histone modification and chromatin remodeling affected individual subtypes (clear cell: SFMBT and SETD2; papillary type 2: BAZ1A) and the collective RCC group (KDM4C).									
25965574	RAD54L	overexpression	Choroid Plexus Carcinoma	TAF12, NFYC, and RAD54L co-located on human chromosome 1p32-35.3 and mouse chromosome 4qD1-D3 were identified as oncogenes that are gained in tumors in both species and required for disease initiation and progression.									
23504502	RAD54L	SNP	Gastric Carcinoma	Logistic regression models were applied to evaluate SNP-level associations. Gene- and pathway-level associations were determined using the resampling-based adaptive rank-truncated product approach. We observed several other genes significantly associated with either ESCC (SMUG1, TDG, TP53, GTF2H3, FEN1, POLQ, HEL308, RAD54B, MPG, FANCE and BRCA1) or GC risk (MRE11A, RAD54L and POLE) (P < 0.05).									
21637572	RAD54L	SNP	Chronic Myelogenous Leukemia	These results suggest a possible link between the 2290 C/T polymorphism of the hRAD54 gene and CML.									
21412013	RAD54L	overexpression	Non-Small Cell Lung Carcinoma	We identified novel genes whose expression was upregulated in NSCLC, including SPAG5, POLH, KIF23, and RAD54L, which are associated with mitotic spindle formation, DNA repair, chromosome segregation, and dsDNA break repair, respectively.									
23628959	SETBP1	mutation	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative; Myeloproliferative Neoplasm, Unclassifiable; Myelodysplastic Syndrome	In particular, there was a high frequency of SETBP1 mutation in aCML (19/60; 31.7%) and MDS/MPN unclassifiable (MDS/MPN, U; 20/240; 9.3%).									
14749765	RAD54L	underexpression	Meningioma	A total of 59 genes were ordered within the SRO. In all, 17 of these were selected as likely candidates based on annotation using Gene Ontology Consortium terms, including the MUTYH, PRDX1, FOXD2, FOXE3, PTCH2, and RAD54L genes. This annotation of a putative tumor suppressor locus provides a resource for further analysis of meningioma candidate genes.									
12614485	RAD54L	mutation (loss of function)	Meningioma	In a search for RAD54L mutations in 29 menigiomas with allelic deletions in 1p, the only genetic change observed was a silent C/T transition at nucleotide 2290 in exon 18.									
26671109	RBBP5	overexpression	Glioma	Our results showed that RBQ3 was significantly upregulated in clinical glioma specimens by Western blot and immunohistochemistry.									
27132511	SETD7	underexpression	Breast Carcinoma	SET9 expression levels were significantly higher in samples from patients with pathological complete remission than in samples from patients with disease recurrence, which indicates that SET9 acts as a tumor suppressor in breast cancer and that its expression may serve as a prognostic marker for malignancy.									
26701885	SETD7	loss of expression; underexpression	Gastric Carcinoma	Among the 376 primary GCs, 129 cases (34.3%) showed loss or weak expression of SET7/9 protein compared to matched non-cancerous tissues by immunohistochemistry.									
23806526	EP400	mutation	Ossifying Fibromyxoid Tumor	We present an ossifying fibromyxoid tumor case with the EP400-PHF1 fusion gene detected by reverse transcriptase polymerase chain reaction, along with compatible cytogenetic data showing a t(6;12)(p21;q24.3) translocation.				PHF1	Fusion	We present an ossifying fibromyxoid tumor case with the EP400-PHF1 fusion gene detected by reverse transcriptase polymerase chain reaction, along with compatible cytogenetic data showing a t(6;12)(p21;q24.3) translocation.			
20959290	SETD7	overexpression	Prostate Carcinoma	We also show that SET9 is pro-proliferative and anti-apoptotic in prostate cancer cells and demonstrates up-regulated nuclear expression in prostate cancer tissue.									
17998933	SETD7	overexpression	Colorectal Carcinoma; Breast Carcinoma; Liver and Intrahepatic Bile Duct Carcinoma	We earlier showed that SMYD3, a histone H3-lysine 4-specific methyltransferase, is frequently upregulated in human colorectal, liver and breast cancer compared to their matched non-cancerous cells, and that its activity is associated with the growth of these tumors.									
25837821	NCOA6	SNP	Melanoma	Eleven SNPs in 6 gene neighborhoods (TERT/CLPTM1L, TYRP1, MTAP, TYR, NCOA6, and MX2) and a PARP1 haplotype were associated with multiple primary melanoma.									
24642353	NCOA6	SNP	Melanoma	In the PanScan data, initial associations were found with melanoma susceptibility variants in NCOA6 [rs4911442; OR, 1.32; 95% confidence interval (CI), 1.03-1.70; P = 0.03], YWHAZP5 (rs17119461; OR, 2.62; 95% CI, 1.08-6.35; P = 0.03), and YWHAZP5 (rs17119490; OR, 2.62; 95% CI, 1.08-6.34; P = 0.03), TYRP1 (P = 0.04), and IFNA13 (P = 0.04).									
22628150	NCOA6	mutation	Melanoma	A haplotype from the variants within NCOA6 showed an association with risk of melanoma (OR 1.49, 95% CI 1.17-1.88).									
21703850	NCOA6	underexpression	Wilms Tumour	TSPAN3, NCOA6, CDO1, MPP2 and MCM2 were confirmed to be down-regulated in relapse WT, and TSPAN3 and NCOA6 were also validated in an independent sample group.									
15701848	NCOA6	copy number gain	Gastric Carcinoma	A group of genes including NCOA6, CYP24A1, PTPN1, and ZNF217 was amplified in gastric cancer.									
15561801	NCOA6	copy number gain; overexpression	Breast Carcinoma; Colon Carcinoma; Lung Carcinoma	The NRC gene is also amplified and overexpressed in breast, colon, and lung cancers.									
12639927	NCOA6	copy number gain	Breast Carcinoma	The amplified in breast cancer-3 (AIB3, ASC-2, RAP250, PRIP, TRBP, NRC, or NcoA6) gene is characterized as a cancer-amplified transcriptional coactivator for nuclear receptors, which include the peroxisome proliferator-activated receptor gamma (PPARgamma).									
24607956	SETMAR	mutation	Acute Myeloid Leukemia	In conclusion, we have found known and novel SETMAR splice variants to be significantly increased in AML.									
23806526	PHF1	mutation	Ossifying Fibromyxoid Tumor	We present an ossifying fibromyxoid tumor case with the EP400-PHF1 fusion gene detected by reverse transcriptase polymerase chain reaction, along with compatible cytogenetic data showing a t(6;12)(p21;q24.3) translocation. Our results suggest that the EP400-PHF1 fusion gene is a reproducible finding in ossifying fibromyxoid tumor.				EP400	Fusion	We present an ossifying fibromyxoid tumor case with the EP400-PHF1 fusion gene detected by reverse transcriptase polymerase chain reaction, along with compatible cytogenetic data showing a t(6;12)(p21;q24.3) translocation. Our results suggest that the EP400-PHF1 fusion gene is a reproducible finding in ossifying fibromyxoid tumor.			
26701732	SIRT5	underexpression	Endometrial Carcinoma	Compared to NNE, ECs showed SIRT7 (p < 0.001) mRNA overexpression, whereas SIRT1 (p < 0.001), SIRT2 (p < 0.001), SIRT4 (p < 0.001) and SIRT5 (p < 0.001) were underexpressed.									
25070488	SIRT5	overexpression	Non-Small Cell Lung Carcinoma	Here we show that the mitochondrial class III NAD(+)-dependent deacetylase SIRT5 is overexpressed in human NSCLC and high expression of SIRT5 predicts poor survival.				Nrf2	positive correlation	SIRT5 mRNA level is positively correlated with the expression of Nrf2 in lung cancer tissues and SIRT5 knockdown reduces the expression of Nrf2 and its downstream drug-resistance genes.			
23958953	ASXL1	altered expression	Mastocytosis	Most frequently affected genes were TET2, SRSF2, ASXL1, CBL, and RUNX1.									
23958953	SETBP1	mutation	Systemic Mastocytosis	We identified additional molecular aberrations in 24/27 (89%) patients with advanced SM (SM-AHNMD, 5/5; aggressive SM/mast cell leukemia, 19/22) whereas only 3/12 (25%) indolent SM/smoldering SM patients carried one additional mutation each (U2AF1, SETBP1, CBL) (P < .001).									
23441612	SIRT5	SNP	Colorectal Carcinoma	In silico predictions allowed us to find 9 relevant single nucleotide polymorphisms (SNPs) localized within the 3'UTRs of genes (AGTR1, TNFAIP2, PRKCB, HSPA9, RABGAP1, DICER1, ADAM19, VWA5A, and SIRT5) targeted by these ITC-related miRNAs.									
21454220	SIRT5	overexpression	Waldenstrom Macroglobulinemia	Gene expression profiling of bone marrow CD19+ cells from 30 patients and 10 healthy donors showed overexpression of HDAC4, HDAC9, and Sirt5, with validation of HDAC9 overexpression by q-PCR in primary and BCWM.1 cells.									
24185509	PBRM1	mutation (loss of function)	Cholangiocarcinoma	Through exomic sequencing of 32 intrahepatic cholangiocarcinomas, we discovered frequent inactivating mutations in multiple chromatin-remodeling genes (including BAP1, ARID1A and PBRM1), and mutation in one of these genes occurred in almost half of the carcinomas sequenced.									
26934577	SMARCC1	copy number loss	Oral Cavity Squamous Cell Carcinoma	In addition to confirming known genes of OSCC (TP53, CDKNA2, CASP8, PIK3CA, HRAS, FAT1, TP63, CCND1 and FADD) the analysis identified several candidate novel driver events including mutations of NOTCH3, CSMD3, CRB1, CLTCL1, OSMR and TRPM2, amplification of the proto-oncogenes FOSL1, RELA, TRAF6, MDM2, FRS2 and BAG1, and deletion of the recently described tumor suppressor SMARCC1.									
24185509	IDH1	mutation	Intrahepatic Cholangiocarcinoma	We also identified frequent mutations at previously reported hotspots in the IDH1 and IDH2 genes encoding metabolic enzymes in intrahepatic cholangiocarcinomas.									
24282087	NCOA1	overexpression	Osteosarcoma	In the current study, we found that SRC-3, but not SRC-1 and SRC-2, was dramatically up-regulated in human osteosarcoma tissues, compared with adjacent normal tissues.									
22139574	SMARCC1	loss of expression (mutation)	Ovarian Carcinoma	The SKOV3 cell line possesses a heterozygous 4bp deletion that results in an 855AA truncated protein, while the cause of the loss of BAF155 expression in the SNUC2B cell line appears due to a post-transcriptional error.									
21087120	SMARCC1	overexpression	Prostate Carcinoma	The Smarcc1 protein, a part of the intranuclear SWI/SNF complex, is up-regulated in PC, and has been suggested to be implicated in tumour dedifferentiation, progression and biochemical recurrence.									
18581278	SMARCC1	overexpression	Prostate Carcinoma	All benign specimens showed no or minimal staining for SMARCC1. In 31% of the patients with recurrent disease and in 31% of the patients with metastatic disease we found moderate to strong SMARCC1 immunostaining.									
24449214	TAF1	mutation	T Acute Lymphoblastic Leukemia	The SET-NUP214 (TAF1/CAN) fusion gene is a rare genetic event in T-cell acute lymphoblastic leukemia (T-ALL).				CAN	Fusion	The SET-NUP214 (TAF1/CAN) fusion gene is a rare genetic event in T-cell acute lymphoblastic leukemia (T-ALL).			
23359684	TAF1	mutation	Endometrial Serous Adenocarcinoma	In addition to well-known cancer genes (i.e., TP53, PIK3CA, PPP2R1A, KRAS, FBXW7), there were frequent mutations in CHD4/Mi2b, a member of the NuRD-chromatin-remodeling complex, and TAF1, an element of the core TFIID transcriptional machinery.									
21685710	TAF1	overexpression (hypomethylation)	Uterine Corpus Leiomyoma	Using paired samples of normal myometrium and leiomyoma from 6 hysterectomy patients, methylation-sensitive quantitative real-time PCR revealed 14 shared X chromosome genes with an abnormal DNA hypomethylation status (FAM9A, CPXCR1, CXORF45, TAF1, NXF5, VBP1, GABRE, DDX53, FHL1, BRCC3, DMD, GJB1, AP1S2 and PCDH11X) and one hypermethylated locus (HDAC8).									
20181722	TAF1	overexpression	Prostate Carcinoma	In tissue microarrays, TAF1 was shown to steadily increase with duration of neoadjuvant androgen withdrawal and with progression to castration resistance. In conclusion, our results indicate that increased TAF1 expression is associated with progression of human prostate cancers to the lethal castration-resistant state.				AR	coactivation	Because TAF1 is a coactivator of AR that binds and enhances AR transcriptional activity, its overexpression could be part of a compensatory mechanism adapted by cancer cells to overcome reduced levels of circulating androgens.			
19919686	TAF1	polymorphism	Hepatocellular Carcinoma	We found that individuals featuring the XPD genotypes with codon 751 Gln alleles (namely XPD-LG or XPD-GG) were related to an elevated risk of HCC compared to those with the homozygote of XPD codon 751 Lys alleles [namely XPD-LL, adjusted odds ratios (ORs) were 1.75 and 2.47; 95% confidence interval (CIs) were 1.30-2.37 and 1.62-3.76, respectively].									
22942708	TRDMT1	SNP	Gastric Carcinoma	 We found that rs16999593 in DNMT1, rs11254413 in DNMT2 and rs13420827 in DNMT3A were significantly associated with GC susceptibility (OR 1.45, 0.15, 0.66, respectively; 95% CI 1.00-2.11, p = 0.047; 0.08-0.27, p < 0.01; 0.45-0.97, p = 0.034, respectively, overdominant model).									
11230735	TRDMT1	underexpression	Hepatocellular Carcinoma	Significant overexpression of DNMT3b and reduced expression of DNMT2 were observed in HCCs compared with the corresponding noncancerous liver tissues.									
11146446	TRDMT1	underexpression	Colorectal Carcinoma; Gastric Carcinoma	The average level of mRNA for DNMT1 and DNMT3b in colorectal and stomach cancers was significantly higher than in corresponding non-cancerous mucosae, whereas the average level of mRNA for DNMT2 was significantly lower in colorectal and stomach cancers than in non-cancerous tissue.									
27141829	TET3	underexpression	Ovarian Carcinoma	We further found that TET3 expression was decreased in ovarian cancer tissues, especially in serous ovarian cancers.							miR-30d	positive regulation	miR-30d was identified as a downstream target of TET3, and TET3 overexpression resumed the demethylation status in the promoter region of miR-30d precursor gene, resulting in restoration of miR-30d (an EMT suppressor of ovarian cancer cells proven in our previous study) level in TGF-β1-induced EMT.
27050164	TET3	underexpression	Esophageal Squamous Cell Carcinoma	TET2 and TET3 expression was also significantly decreased in tumor tissues compared with paired non-tumor tissues (TET2, P < 0.0001; TET3, P = 0.009), and the decrease in 5-hmC was significantly associated with the downregulation of TET2 expression (r = 0.405, P = 0.004).				5-hmC	association	TET2 and TET3 expression was also significantly decreased in tumor tissues compared with paired non-tumor tissues (TET2, P < 0.0001; TET3, P = 0.009), and the decrease in 5-hmC was significantly associated with the downregulation of TET2 expression (r = 0.405, P = 0.004).			
26366235	TET3	underexpression	Hepatocellular Carcinoma	Our data applying qPCR, immunofluorescence, and Western blotting clearly show that TET2 and TET3 but not TET1 were significantly decreased in HCC tissue and different HCC cell lines compared to non-tumor liver tissues and hHeps.				5hmC	positive correlation	Our data clearly show that the expression and activity of TET2 and TET3 proteins but not TET1 are impaired in hepatocellular carcinoma leading to the reduction of 5hmC in HCCs.			
25557833	TET3	underexpression	Colorectal Carcinoma	We found reduced transcript levels of TET1, TET2 and TET3 in cancerous tissue compared with their histopathologically unchanged counterparts (p = 0.000011; p = 0.000001; p = 0.00031, respectively).									
25098926	TET3	underexpression	Gastric Carcinoma	The expressions of TET1, TET2, TET3, TDG and IDH2, but not IDH1, were notably decreased in GCs, compared with the adjacent non-tumor portion.				5-hmC	positive correlation	TET1 expression and the 5-hmC levels determined using LC-MS/MS had a significantly positive correlation and TET1 protein had a greater effect on the increase in 5-hmC than TET2 and TET3 in HEK293T cells.			
24894482	TET3	overexpression	Diffuse Intrinsic Pontine Glioma	Additionally, in an independent set of DIPG tumor samples, TET1 and TET3 mRNAs were found to be overexpressed relative to matched normal brain.				5hmC	negative correlation	TET2 or TET3 depletion also causes increased 5hmC, suggesting these proteins play a major role in 5hmC removal.			
27285764	WHSC1L1	copy number gain	Head and Neck Squamous Cell Carcinoma	Wolf-Hisrchhorn Syndrome Candidate 1-Like 1 (WHSC1L1) is a protein lysine methyltransferase that is recurrently amplified (8p11.23) in patients with squamous cell carcinoma of the head and neck (SCCHN).							CDC6;  CDK2	regulation	Knockdown of WHSC1L1 expression resulted in significant growth suppression and reduction of H3K36 dimethylation (H3K36me2) in SCCHN cells. Chromatin immunoprecipitation analysis showed that WHSC1L1 and H3K36me2 are enriched in the gene bodies of the cell cycle-related genes CDC6 and CDK2, implying that WHSC1L1 directly regulates the transcription of these genes.
27005559	WHSC1L1	copy number gain	Breast Carcinoma	The 8p11-p12 amplicon occurs in approximately 15% of breast cancers in aggressive luminal B-type tumors. Previously, we identified WHSC1L1 as a driving oncogene from this region. 				Erα	correlation	Finally, knock-down of WHSC1L1 in SUM-44 cells resulted in loss of ERα binding to chromatin under estrogen-free conditions, which was restored upon exposure to estradiol.			
26971045	WHSC1L1	copy number gain	Pleomorphic Adenoma	The occurrence of gains at chromosomes 3 and 8 and genomic amplifications at 8p and 12q, mainly those encompassing the HMGA2, MDM2, WIF1, WHSC1L1, LIRG3, CDK4 in CXAP from RPA can be a significant promotional factor in malignant transformation.									
26626481	WHSC1L1	polymorphism	Acute Myeloid Leukemia	Unexpectedly, AML cells were found to only require a short isoform of NSD3 that lacks the methyltransferase domain.									
24282087	NCOA3	overexpression	Osteosarcoma	In the current study, we found that SRC-3, but not SRC-1 and SRC-2, was dramatically up-regulated in human osteosarcoma tissues, compared with adjacent normal tissues.									
24875858	WHSC1L1	mutation	NUT Midline Carcinoma	We established a new patient-derived NMC cell line (1221) and demonstrated that it harbors a novel NSD3-NUT fusion oncogene.				NUT	Fusion	We established a new patient-derived NMC cell line (1221) and demonstrated that it harbors a novel NSD3-NUT fusion oncogene.			
23011637	WHSC1L1	overexpression	Bladder Carcinoma; Lung Carcinoma; Liver and Intrahepatic Bile Duct Carcinoma	Immunohistochemical analysis of bladder, lung, and liver cancers confirmed overexpression of WHSC1L1.									
24285434	EP400	mutation	Ossifying Fibromyxoid Tumor	The most common abnormality is PHF1 gene rearrangement (80%), being present in benign, atypical and malignant lesions, with fusion to EP400 in 44% of cases.				PHF1	Fusion	The most common abnormality is PHF1 gene rearrangement (80%), being present in benign, atypical and malignant lesions, with fusion to EP400 in 44% of cases.			
21666749	WHSC1L1	copy number gain	Lung Adenocarcinoma; Squamous Cell Lung Carcinoma	Using SNP array analysis, we found that a region of chromosome segment 8p11-12 containing three genes-WHSC1L1, LETM2, and FGFR1-is amplified in 3% of lung adenocarcinomas and 21% of squamous cell lung carcinomas.									
20940404	WHSC1L1	mutation	Breast Carcinoma	WHSC1L1, DDHD2, and ERLIN2 were most potently transforming oncogenes based on the number of altered phenotypes expressed by the cells.									
20599755	WHSC1L1	genetic aberration	Leukemia; Breast Carcinoma; Lung Carcinoma	NSD3/WHSC1L1 histone methyltransferase gene aberrations are observed in leukemia and in breast and lung carcinomas, suggesting that NSD3 is implicated in carcinogenesis.									
19380029	WHSC1L1	mutation	Leukemia	Southern blot analysis of bone marrow cells showed both rearrangements of NUP98 and NSD3 genes.									
18757432	WHSC1L1	overexpression (copy number gain)	Breast Carcinoma	An analysis of comparative genomic hybridization array and expression profiling data for a series of 152 ductal breast carcinomas and 21 cell lines identified five genes (LSM1, BAG4, DDHD2, PPAPDC1B, and WHSC1L1) within the amplified region as consistently overexpressed due to an increased gene copy number.									
24285434	PHF1	mutation	Ossifying Fibromyxoid Tumor	The most common abnormality is PHF1 gene rearrangement (80%), being present in benign, atypical and malignant lesions, with fusion to EP400 in 44% of cases.				EP400	Fusion	The most common abnormality is PHF1 gene rearrangement (80%), being present in benign, atypical and malignant lesions, with fusion to EP400 in 44% of cases.			
15983384	WHSC1L1	copy number gain	Pancreatic Ductal Adenocarcinoma; Non-Small Cell Lung Carcinoma	Integrated DNA-RNA analyses identified WHSC1L1 and TPX2 as two candidates likely targeted for amplification in both pancreatic ductal adenocarcinoma and non-small-cell lung cancer.									
12461755	WHSC1L1	mutation	Hematologic Malignancy	The NUP98 gene at 11p15 is known to be fused to DDX10, HOXA9, HOXA11, HOXA13, HOXD11, HOXD13, LEDGF, NSD1, NSD3, PMX1, RAP1GDS1, and TOP1 in various hematologic malignancies.				NUP98	Fusion	The NUP98 gene at 11p15 is known to be fused to DDX10, HOXA9, HOXA11, HOXA13, HOXD11, HOXD13, LEDGF, NSD1, NSD3, PMX1, RAP1GDS1, and TOP1 in various hematologic malignancies.			
11374904	WHSC1L1	copy number gain	Breast Carcinoma	NSD3 maps to chromosome band 8p12 and is amplified in several tumor cell lines and primary breast carcinomas.									
24304549	NCOA2	overexpression	Breast Carcinoma	As the members of the p160/nuclear receptor co-activator (NCOA) family, NCOA1, NCOA2 and NCOA3 are known to be overexpressed in breast cancer and essentially involved in estrogen-mediated cancer cell proliferation we asked if these proteins are involved in the ERα-mediated transactivation of PLAC1 in breast cancer cells.									
17244783	RBBP4	overexpression	Thyroid Gland Carcinoma	Immunohistochemical analysis of normal and pathological human thyroid specimens confirmed that RbAp48 is strongly overexpressed in primary human carcinomas.									
14966907	RBBP4	overexpression	Hepatocellular Carcinoma	We identified 4 genes, the expression of three (Beclin 1, RbAp48 and Pir51) were increased and one (aldolase b) was decreased in liver tumor tissues.									
14553942	RBBP4	overexpression	Acute Myeloid Leukemia	 Deregulation was found in pathways that contribute to genomic stability (by downregulation of either TP53 or CSE1L and by upregulation of GADD45A) and regulate cell cycle progression (by downregulation of CDKN2A and upregulation of RBBP4, CDC37, and NEDD5).									
24304549	NCOA1	overexpression	Breast Carcinoma	As the members of the p160/nuclear receptor co-activator (NCOA) family, NCOA1, NCOA2 and NCOA3 are known to be overexpressed in breast cancer and essentially involved in estrogen-mediated cancer cell proliferation we asked if these proteins are involved in the ERα-mediated transactivation of PLAC1 in breast cancer cells.									
25885317	RBBP7	overexpression	Bladder Carcinoma	High expression of Ras protein accompanied with high RbAp46 and low RECK expression were detected in 75% (3/4) of the clinical bladder cancer tumor tissues compared to the adjacent normal parts.							RECK	negative regulation	RbAp46 could bind with histone deacetylase (HDAC1) and Sp1, followed by binding to RECK promoter at the Sp1 site resulting in repression of RECK expression.
20920292	RBBP7	overexpression	Brain Neoplasm	For this purpose, we queried the Oncomine database and found that 4 PcG genes (EZH2, RBBP7, SUZ12, YY1) are specifically expressed in brain tumors.									
20455597	RBBP7	aberrant expression	Chromophobe Renal Cell Carcinoma; Renal Cell Carcinoma	Of these, RBBP7 and HSP27 were highly expressed in the chromophobe subtype of RCC (3/3) but were absent from conventional RCC (0/3).									
19655816	RBBP7	overexpression	Non-Small Cell Lung Carcinoma	Both of RbAp46 mRNA and protein levels were upregulated significantly in NSCLC cancer tissues.									
17314274	RBBP7	overexpression	Breast Carcinoma	Reverse transcription-PCR data show high expression of putative tumor suppressor genes Rsk4 and RbAp46 in 47% and 79% of breast carcinoma cases, respectively, whereas Cldn2 was down-regulated in 52% of breast cancer cases compared with normal adjacent tissues.									
16251025	RBBP7	overexpression	Leukemia	RbAp46 expression levels in ALs and CML-BC were strikingly higher than that in non-leukemias and CML-CP, and might participate in leukemogenesis.									
14666671	RBBP7	underexpression	Breast Carcinoma	Here, we found that RbAp46 expression levels were decreased in five established breast cancer cell lines compared to a normal mammary gland epithelial cell line.									
27495308	SMARCE1	overexpression	Breast Carcinoma	Expression data analysis of a large cohort of human breast tumors revealed that high expression of SMARCE1 or PTK2 is associated with poor prognosis and tumor relapse, and PTK2 expression is positively correlated with SMARCE1 expression in basal-like and luminal B subtypes of breast tumors.				PTK2	positive correlation	Expression data analysis of a large cohort of human breast tumors revealed that high expression of SMARCE1 or PTK2 is associated with poor prognosis and tumor relapse, and PTK2 expression is positively correlated with SMARCE1 expression in basal-like and luminal B subtypes of breast tumors.			
26803492	SMARCE1	mutation (loss of function)	Meningioma	Heterozygous loss-of-function germline mutations in the SMARCE1 gene are causative, giving rise to an autosomal dominant inheritance pattern. Because of the few reported cases so far, the lifetime risk of developing meningiomas for SMARCE1 mutation carriers is unclear and the complete tumor spectrum is unknown.									
25143307	SMARCE1	loss of expression (mutation)	Spinal Multifocal Clear Cell Meningioma; Cranial Clear Cell Meningioma	Copy number analysis identified a large deletion of the 5' end of SMARCE1 in two unrelated probands with spinal clear cell meningiomas. In addition, we found loss of SMARCE1 protein in three of 10 paraffin-embedded cranial clear cell meningiomas.									
24880093	SMARCE1	overexpression	Ovarian Neoplasm	Among other genes, we discovered that TTF1, a regulator of ribosomal RNA gene expression, and SMARCE1, a factor associated with chromatin remodeling were overexpressed in first stage CD8+ ovarian tumors.							IL8; MIP1b; RANTES	positive regulation	Interestingly, forced overexpression of SMARCE1 in SKOV3 ovarian cancer cells resulted in secretion of IL8, MIP1b and RANTES chemokines in the supernatant and triggered chemotaxis of CD8+ lymphocytes in a cell culture assay.
23493350	SMARCE1	overexpression	Prostate Carcinoma	Immunohistochemical quantitation of primary human specimens revealed that BAF57 was significantly and aberrantly elevated as a function of tumor grade.									
23377182	SMARCE1	mutation (loss of function)	Clear Cell Meningioma	We identified two individuals with heterozygous loss-of-function mutations in the SWI/SNF chromatin-remodeling complex subunit gene SMARCE1. Sequencing of SMARCE1 in six further individuals with spinal meningiomas identified two additional heterozygous loss-of-function mutations. Tumors from individuals with SMARCE1 mutations were of clear-cell histological subtype, and all had loss of SMARCE1 protein, consistent with a tumor suppressor mechanism.									
21465167	SMARCE1	mutation	Breast Carcinoma	Here, we describe two novel mutations in the BAF57 gene found in a breast cancer patient.				ETS2	interaction	In addition, the mutations in BAF57 affect its functional interaction with the androgen receptor and ETS2, two transcription factors that play an important role in breast cell biology.			
18559499	SMARCE1	aberrant expression	Prostate Carcinoma	Although selected SWI/SNF subunit expression is reduced in prostate cancer, we show that BAF57 is retained in human disease and is elevated in a subset of tumors.									
16538531	SMARCE1	mutation (loss of function)	Breast Carcinoma	The absence of wild-type BAF57 alleles indicates that this is a biallelic inactivating mutation that causes a frameshift and as a consequence a premature stop codon leading to a truncated BAF57 protein.									
16135788	SMARCE1	inactivation 	Breast Carcinoma	BT549 is an invasive human breast carcinoma cell line that lacks expression of BAF57, a key hSWI/SNF subunit that mediates interaction with transcriptional activators and corepressors.							CYLD	positive regulation	Furthermore, microarray analysis revealed that BAF57-mediated cell death was associated with up-regulation of proapoptotic genes including the tumor suppressor familial cylindromatosis (CYLD), which was found to be a direct target of BAF57 as determined by chromatin immunoprecipitation analysis.
27412325	TRIM28	overexpression	Breast Carcinoma	We find that TRIM28 is highly expressed in both cancer cell lines and advanced breast cancer tissues, and the levels of TRIM28 and TWIST1 are positively correlated with the aggressiveness of breast carcinomas.							TWIST1	positive regulation	Overexpression and depletion of TRIM28 up- and down-regulates the protein, but not the mRNA levels of TWIST1, respectively, suggesting that TRIM28 upregulates TWIST1 post-transcriptionally.
26476730	TRIM28	overexpression	Glioma	First, TRIM28 expression was significantly higher in glioma (n = 138) than in non-glioma controls (n = 6).				p21	negative correlation	Notably, TRIM28 expression was negatively correlated with p21 expression in patients with glioblastoma multiforme (GBM).			
24304549	NCOA3	overexpression	Breast Carcinoma	Moreover, significant higher transcript levels of PLAC1 were found only in ERα-positive human breast cancer samples which also show a NCOA3 overexpression.									
23425061	TRIM28	overexpression	Colorectal Carcinoma	Strong epithelial TRIM28 expression was found in 42% of colorectal cancer tissues.				p53	correlation	TRIM28 expression correlated significantly with p53 expression in matched cases (P=0.0168, Spearman rank test).			
23060449	TRIM28	aberrant expression	Lung Carcinoma; Breast Carcinoma	Although Trim28 mRNA is found in many studies to be up-regulated in both lung and breast cancer tissues relative to normal adjacent tissue, we found that within a panel of early-stage lung adenocarcinomas high levels of Trim28 protein correlate with better overall survival.									
22959342	TRIM28	overexpression	Non-Small Cell Lung Carcinoma	In this study, we demonstrated the expression of TRIM28 gene was significantly higher in cancerous tissues than in noncancerous tissues (P < 0.001).									
27175596	SND1	mutation	Spindle Cell Oncocytoma of the Adenohypophysis	Other SCOs demonstrated mutations in SND1 and FAT1, which are associated with MAPK pathway activation.									
26997225	SND1	overexpression	Hepatocellular Carcinoma	Staphylococcal nuclease and tudor domain containing 1 (SND1) is overexpressed in multiple cancers, including hepatocellular carcinoma (HCC), and functions as an oncogene.				MGLL	negative correlation	Interaction of SND1 with MGLL resulted in ubiquitination and proteosomal degradation of MGLL. An inverse correlation between SND1 and MGLL levels was identified in a human HCC tissue microarray as well as in the TCGA database.			
26351803	SND1	overexpression	Glioma	To elucidate the role of MDTH and SND1 in the pathogenesis of glioma, we examined the expression of MTDH and SND1 in primary glioma tissues and found that both MTDH and SND1 were highly expressed, with similar expression patterns.				MTDH	positive correlation	Co-expression of MTDH and SND1 was associated with advanced glioma grades.			
25985019	SND1	mutation	Lung Adenocarcinoma	In addition to ALK fusions identified by IHC/FISH in four cases, two previously known fusions involving EZR- ROS1 and KIF5B-RET were identified by RNA-Seq as well as a third novel fusion transcript that was formed between exons 1-9 of SND1 and exons 2 to 3' end of BRAF.				miR-361-5p	feedback loop	SND1 was identified as a target of miR-361-5p using bioinformatics analysis and in vitro luciferase reporter assays. In turn, SND1 bound to pre-miR-361-5p and suppressed the expression of miR-361-5p, thus exerting a feedback loop.			
25793711	SND1	SNP	Chronic Lymphocytic Leukemia	A total of 91 SNPs in 107 CLL patients and 350 cancer-free controls were successfully analyzed using TaqMan Open Array technology. We found nine statistically significant associations with CLL risk after FDR correction, seven in miRNA processing genes (rs3805500 and rs6877842 in DROSHA, rs1057035 in DICER1, rs17676986 in SND1, rs9611280 in TNRC6B, rs784567 in TRBP and rs11866002 in CNOT1) and two in pre-miRNAs (rs11614913 in miR196a2 and rs2114358 in miR1206).									
25663449	SND1	SNP	Osteosarcoma	Interestingly, these SNPs were located in miRNA processing genes (CNOT1, CNOT4 and SND1) which are part of the RISC complex.									
25596283	SND1	overexpression	Breast Carcinoma	SND1 was upregulated in breast cancer tissues, in particular in primary invasive ductal carcinomas.							Smurf1	positive regulation	We found that SND1 promoted expression of the E3 ubiquitin ligase Smurf1, leading to RhoA ubiquitination and degradation.
25494629	SND1	overexpression	Hepatocellular Carcinoma	Promoter activity of the cell growth- and RNA-protection associated SND1 gene is up-regulated by ER stress in human hepatoma cells.									
25216670	SND1	overexpression	Glioma	SND1 is highly expressed in human glioma tissue and inversely correlated with miR-184 expression. 				miR-184	negative correlation	SND1 is highly expressed in human glioma tissue and inversely correlated with miR-184 expression. 			
24319229	ASXL1	mutation	Myelodysplastic Syndrome	Recently, mutations in several epigenetic modifiers have been described in patients with MPNs, including mutations in ASXL1, DNMT3A, EZH2, IDH1, IDH2, and TET2.									
24918049	SND1	overexpression	Hepatocellular Carcinoma	Staphylococcal nuclease domain containing-1 (SND1) is overexpressed in human hepatocellular carcinoma (HCC) patients and promotes tumorigenesis by human HCC cells.							AT1R	positive regulation	We now document that SND1 increases angiotensin II type 1 receptor (AT1R) levels by increasing AT1R mRNA stability. A positive correlation was observed between SND1 and AT1R expression levels in human HCC patients.
24155205	SND1	overexpression	Breast Carcinoma	Interestingly, we found Tudor-SN as a miRNA regulator according to microarray analysis, and further identified that Tudor-SN negatively regulated the expression of miR-127, and consequently increased the expression of the proto-oncogene BCL6 which was a convincing target of miR-127.							miR-127; BCL6	negative regulation; positive regulation	Interestingly, we found Tudor-SN as a miRNA regulator according to microarray analysis, and further identified that Tudor-SN negatively regulated the expression of miR-127, and consequently increased the expression of the proto-oncogene BCL6 which was a convincing target of miR-127.
23995791	SND1	overexpression	Prostate Carcinoma	We found that both SAM68 and SND1 are upregulated in PCa cells with respect to benign prostate cells.				SAM68	synergic effect	Upregulation of SND1 exerts a synergic effect with SAM68 on exon v5 inclusion in the CD44 mRNA.	CD44	regulation	The effect of SND1 on CD44 splicing required SAM68, as it was compromised after knockdown of this protein or mutation of the SAM68-binding sites in the CD44 pre-mRNA.
23878061	SND1	overexpression	Hepatocellular Carcinoma	Immunohistochemistry analysis revealed that the expression level of SND1 was higher in HCC tissues than in adjacent nontumor tissues.							IGFBP3; IGF signaling pathway	negative regulation; positive regulation	Screening of gene expression levels of the IGF pathway, using real-time PCR, revealed that a decrease in SND1 expression could increase the expression of IGF-binding protein 3 (IGFBP3), which can negatively regulate activation of the IGF pathway by restricting interactions between IGF and IGF receptors. Therefore, we concluded that SND1 could affect SMMC-7721 cells proliferation by regulating IGFBP3 expression and IGF signaling pathway.
23065261	SND1	overexpression	Colon Carcinoma	Positive expression of MTDH and SND1 were both increased in colon cancer tissues compared to paired non-cancerous colon tissues.				MTDH	positive correlation	There was a positive correlation between MTDH and SND1 expression in colon cancer tissues (r = 0.86, p < 0.001).			
21520169	SND1	overexpression	Hepatocellular Carcinoma	In 109 human HCC samples SND1 was overexpressed in �?4% cases compared to normal liver.							RISC	positive regulation	We unravel a novel mechanism that overexpression of AEG-1 and SND1 leading to increased RISC activity might contribute to hepatocarcinogenesis.
20883704	SND1	overexpression	Colon Carcinoma	Staphylococcal nuclease homology domain containing 1 (SND1), a component of RISC, is frequently up-regulated in human colon cancers and also chemically induced colon cancers in animals.							APC	negative regulation	We here showed that SDN1 is involved in miRNA-mediated gene suppression and overexpression of SND1 in colon cancer cells causes down-regulation of APC without altering APC mRNA levels.
19435788	SND1	overexpression	Hormone-Resistant Prostate Cancer	Using high molecular-weight proteomic analysis, we previously showed that Staphylococcal nuclease domain-containing protein 1 (SND1) is highly expressed in recurrent androgen-insensitive prostate cancer tissues.									
18348187	SND1	underexpression	Clear Cell Renal Cell Carcinoma	Lower levels of expression of SIN3B, TRIP3, SYNJ2BP and NDE1 (P < 0.02), and of intronic transcripts derived from SND1 and ACTN4 loci (P < 0.05), were confirmed in clear cell RCC by Real-time RT-PCR.									
17909068	SND1	overexpression	Colon Carcinoma	SND1, also called Tudor-SN and p100 and recently reported to be a component of RISC, is among the list of highly expressed genes in human colon cancers.									
26853466	HDAC7	overexpression	Glioblastoma	In the current work we show the existence of a subpopulation of patients overexpressing HDAC7 and STAT3 that has particularly poor clinical outcome.									
26423403	HDAC7	overexpression	Colorectal Carcinoma	PAK1, NEK6, AURKA, AURKB, and HDAC1 were significantly more overexpressed in the CRAP group compared to the controls (p<0.005).									
26259750	HDAC7	overexpression	Colorectal Carcinoma	In addition, there was a significantly higher overexpression of HDAC1 and PAK1 genes in the UC group, and of HDAC1, HDAC7, PAK1 and AURKB genes in the CRC group.									
25675295	HDAC7	underexpression	B Acute Lymphoblastic Leukemia; Burkitt Lymphoma	Here we report that histone deacetylase 7 (HDAC7) is underexpressed in pro-B acute lymphoblastic leukemia (pro-B-ALL) and Burkitt lymphoma.							c-Myc	negative regulation	Ectopic expression of HDAC7 induces apoptosis, leads to the downregulation of c-Myc and inhibits the oncogenic potential of cells in vivo, in a xenograft model
25275504	HDAC7	overexpression	Pancreatic Adenocarcinoma	Mean mRNA transcription levels of PA for HDAC7 and HDAC2 were higher when compared to their counterpart biopsies taken at the tumor periphery (p = 0.0346, 0.0053, respectively).									
25042405	HDAC7	copy number gain	B Acute Lymphoblastic Leukemia	Several recurrent copy number changes showed differential frequencies in the GCB- and ABC-DLBCL subgroups, including gains of HDAC7A predominantly in GCB-DLBCL (38% of cases) and losses of BACH2 and CASP8AP2 predominantly in ABC-DLBCL (35%), hinting at disparate pathogenetic mechanisms in these entities.									
23724067	HDAC7	overexpression	Colorectal Carcinoma	We found HDAC1, HDAC2, HDAC3, HDAC5, and HDAC7 all to be up-regulated in the field of human CRC.									
24319229	IDH1	mutation	Myeloproliferative Neoplasm	Recently, mutations in several epigenetic modifiers have been described in patients with MPNs, including mutations in ASXL1, DNMT3A, EZH2, IDH1, IDH2, and TET2.									
22237050	HDAC7	overexpression	Chronic Lymphocytic Leukemia	The results showed: (1) HDAC isoenzyme levels in CLL were significantly increased in class I including HDAC1 and HDAC3, in class II including HADC6, HDAC7, HDAC9 and HDAC10, and in class III including SIRT1 and SIRT6; (2) higher expression of HDAC isoenzyme levels was found in ZAP-70+ compared to ZAP-70- patients, and CD44 expression levels were correlated with HDAC isoenzyme expression levels in the majority of HDAC classes.									
24382590	ARID2	mutation (loss of function)	Colorectal Carcinoma	Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer									
18506539	HDAC7	overexpression	Pancreatic Adenocarcinoma	Remarkably, 9 of the 11 PA (approximately 81%) showed significant increase of HDAC7 mRNA levels.									
27150986	PRDM16	overexpression	Acute Myeloid Leukemia	The gene expression levels of HOXB4, PRDM16, HOXA9 in newly diagnosed or relapsed AML patients were significantly higher than those in patients with non-malignant hematologic disease (P < 0.05).				HOXB4; HOXA9	positive correlation	The expression levels of HOXB4, PRDM16 and HOXA9 positively correlate with each other.			
26701852	PRDM16	overexpression (hypomethylation)	Astrocytoma	The present study confirms that PRDM16 is a hypomethylated gene that can be overexpressed in astrocytoma patients and demonstrates that the hypomethylation status of the PRDM16 promoter can predict poor prognoses for astrocytoma patients.	miR-101	negative regulation	The results reported herein show that PRDM16 was inhibited by miR-101 directly and also through epigenetic regulation.						
26684393	PRDM16	overexpression	Childhood Acute Myeloid Leukemia	PRDM16 overexpression was highly recurrent in de novo paediatric AML patients with high/intermediate-risk cytogenetic profiles and was independently associated with an adverse outcome.									
25567132	PRDM16	overexpression	Childhood Acute Myeloid Leukemia	From gene expression profiling data of 130 Japanese pediatric acute myeloid leukemia (AML) patients, we found that EVI1 and MEL1 were overexpressed in ~30% of patients without obvious translocations of these gene loci, and that their high expression was significantly associated with inferior survival.									
24944583	PRDM16	hypermethylation	Acute Myeloid Leukemia	Nine novel hypermethylated genes, FZD5, FZD8, PRDM16, ROBO3, CXCL14, BCOR, ITPKA, HES6 and TAL1, the latter four being potential PU.1 targets, were confirmed to be hypermethylated in human normal karyotype AML patients, underscoring the relevance of the mouse model for human AML.									
24367615	PRDM16	copy number gain	Colorectal Carcinoma	Candidate tumour suppressor genes in deleted FMCR included RASSF3, IFNAR1, IFNAR2 and NFKBIA and candidate oncogenes in gained FMCR included PRDM16, TNS1, RPA3 and KCNMA1.									
23998567	PRDM16	mutation	Acute Myeloid Leukemia	Among them, AML1-ETO in 12 (7.1%) cases were detected, AML1-EVI1 in 2 cases (1.2%), and AML1-MDS1, AML1-MTG16, AML1-PRDM16, and AML1-CLCA2 in 1 case (0.6%) each were detected.				AML1	Fusion	Among them, AML1-ETO in 12 (7.1%) cases were detected, AML1-EVI1 in 2 cases (1.2%), and AML1-MDS1, AML1-MTG16, AML1-PRDM16, and AML1-CLCA2 in 1 case (0.6%) each were detected.			
22050763	PRDM16	mutation	Acute Myeloid Leukemia; Myelodysplastic Syndrome	The PRDM16 (1p36) gene is rearranged in acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS) with t(1;3)(p36;q21), sharing characteristics with AML and MDS with MECOM (3q26.2) translocations.									
19049980	PRDM16	aberrant expression	Gastric Carcinoma	SKI and MDS1/EVI1-like gene 1 (MEL1), were aberrantly expressed in MKN28 gastric cancer cells by chromosomal co-amplification of 1p36.32. SKI and MEL1 knockdown synergistically restored TGF-beta responsiveness in MKN28 cells and reduced tumor growth in vivo.									
18767145	PRDM16	mutation	Chronic Myelogenous Leukemia, BCR-ABL1 Positive	At this time, array CGH performed on CD34(+) cells revealed cryptic partial deletions of both PRDM16 and RUNX1 and duplication of the der(21) chromosome. At the molecular level, these abnormalities lead to the overexpression of the PR-domain negative oncogenic isoform of PRDM16, associated with two deleted copies within the runt domain of C-teminal aberrant RUNX1.									
18202228	PRDM16	mutation	Leukemia	In addition, we also report a high frequency of cryptic chromosomal RUNX1 translocation to a novel recently described gene partner, PRDM16 on chromosome 1p36, for 3 (21.4%) of 14 investigated patients: 2 myeloid BC CMLs and, for the first time, 1 therapy-related BCR-ABL+ ALL.									
18037989	PRDM16	mutation	Acute Myeloid Leukemia	We report here aberrant expression of PR domain containing 16 (PRDM16) in AML cells with either translocations of 1p36 or normal karyotype.									
14704036	PRDM16	mutation	Myeloid Neoplasm	Chromosomal abnormalities involving 1p36, 3q21, and/or 3q26 have been reported in a subset of myeloid neoplasms having characteristic dysmegakaryopoiesis, and the overexpression of EVI1 on 3q26 or of MEL1 on 1p36 has been implicated in their pathogenesis.									
12557231	PRDM16	mutation	Acute Myeloid Leukemia; Myelodysplastic Syndrome	With fluorescence in situ hybridization analysis by use of BAC/PAC probes, we identified the breakpoint at 1p36.3 in three MDS/AML patients with t(1;3)(p36;q21): within the first intron of the MEL1 gene (one patient) or within a 29-kb region located in the 5' region of MEL1 (two other patients).									
11050005	PRDM16	mutation	Acute Myeloid Leukemia; Myelodysplastic Syndrome	The MEL1 gene is expressed in leukemia cells with t(1;3) but not in other cell lines or bone marrow, spleen, and fetal liver, suggesting that MEL1 is specifically in the t(1;3)(p36;q21)-positive MDS/AML.									
27722820	RUVBL1	overexpression	Lung Adenocarcinoma	Our study revealed that RUVBL1 expression was higher in lung adenocarcinoma specimens than in those of adjacent non-tumor tissues and in lung cancer cell lines than in normal lung cell lines.									
25751257	RUVBL1	overexpression	Renal Cell Carcinoma	In this study, we demonstrate for the first time that pontin was up-regulated in RCC, and plays a previously unknown pro-invasive role in the metastatic progression of RCC through epithelial-to-mesenchymal transition (EMT) pathway.							CDH1; VIM; CTNNB1	negative regulation; positive regulation; positive regulation	Mechanistic studies show that pontin depletion up-regulated the E-cadherin protein and down-regulated vimentin protein, and decreased nuclear β-catenin expression, suggesting the involvement of EMT in pontin induced metastatic progression.
24518087	RUVBL1	overexpression	Small Cell Lung Carcinoma	Dihydropyrimidinase-related protein 2, guanine nucleotide-binding protein alpha-q, laminin receptor 1, pontin, and stathmin 1 were selected as candidate biomarkers among MAPs overexpressed in SCLC.									
24396308	RUVBL1	overexpression	Esophageal Squamous Cell Carcinoma	RUVBL1 was consistently overexpressed in all three datasets, although we found inconsistent CNIH expression possibly affected by the diverse major risk factors for ESCC across different areas.									
20635389	RUVBL1	SNP	Ovarian Serous Adenocarcinoma	Two SNPs in RUVBL1, rs13063604 and rs7650365, were associated with increased risk of serous ovarian cancer [HetOR = 1.42 (1.15-1.74) and the HomOR = 1.63 (1.10-1.42), p-trend = 0.0002] and [HetOR = 0.97 (0.80-1.17), HomOR = 0.74 (0.58-0.93), p-trend = 0.009], respectively.									
19877184	RUVBL1	overexpression	Hepatocellular Carcinoma	We show here that Pontin messenger RNA (mRNA) is also up-regulated in human HCC 3.9-fold as compared to nontumor liver (P = 0.0004).							RUVBL2	positive regulation	Pontin depletion led to down-regulation of Reptin as shown with western blot, and vice versa.
17442372	RUVBL1	overexpression	Colorectal Carcinoma	Cytoplasmic pontin staining of tumor cells was present in all cases and was stronger in 84.6% and equal in 15.4% of the cases compared with normal mucosa.									
12716467	RUVBL1	overexpression	Lymphoma	Increased expression of MPHOSPH1, RUVBL1, CHN2, PSA and CDC10 genes, and reduced expression of COL1A2, COL4A1, FBLN5, CLECSF6, MIC2, CAV1 and S100A10 genes in the advanced lymphoma group were confirmed by semi-quantitative reverse transcription-PCR.									
27346408	SETD8	SNP	Clear Cell Renal Cell Carcinoma	The frequencies of rs16917496 CT and TT genotypes in the CCRCC group were significantly higher than those in the control group (P<0.05). Compared with the CC genotype, patients with CT and TT genotypes were more susceptible to develop CCRCC (P<0.05).									
27144429	SETD8	overexpression (mutation)	Breast Carcinoma	We demonstrated the expression levels of SET8 in TT genotype were higher than in CC genotypes, and high levels of SET8 were associated with poor survival. SET8 expression was significantly higher in breast tumor tissue than in paired adjacent normal tissue.									
27080302	SETD8	overexpression	Breast Carcinoma	Clinical analyses showed the miR-502 expression was lower in tumor tissues than in adjacent non-tumor tissues and had a significant inverse correlation with that of SET8.				miR-502	negative correlation	Clinical analyses showed the miR-502 expression was lower in tumor tissues than in adjacent non-tumor tissues and had a significant inverse correlation with that of SET8.			
25169478	SETD8	SNP	Cervical Carcinoma	The frequency of SET8 CC (odds ratios (OR) = 2.717, 95% CI=1.436-5.141) or TP53 GG (OR=2.168, 95% CI=1.149-4.089) genotype was associated with an increased risk of cervical cancer on comparison with the SET8 TT or TP53 CC genotypes, respectively.									
24374662	SETD8	SNP	Non-Small Cell Lung Carcinoma	The SET8 TT (odds ratio, OR = 2.173, 95% confidence interval, CI = 1.0454.517) or TP53 GG (OR = 2.579, 95% CI = 1.366-4.870) genotype was associated with an increased risk of NSCLC by comparing with the SET8 CC or TP53 CC genotype, respectively. Similar results were obtained in SET8 recessive model (OR = 2.074, 95% CI = 1.019-4.221, P < 0.05), and the dominant and recessive model of TP53 codon 72 were performed, respectively (OR = 1.809, 95% CI = 1.159-2.825, P < 0.05; OR = 1.933, 95% CI = 1.096-3.409, P < 0.05).									
24146953	SETD8	SNP	Non-Small Cell Lung Carcinoma	Using Taqman assay, we genotyped a polymorphism rs16917496 T>C within the miR-502 binding site in the 3'-untranslated region of the SET8 gene in 576 non-small cell lung cancer (NSCLC) patients. The CC genotype was associated with reduced SET8 protein expression based on immunostaining of 192 NSCLC tissue sample (P = 0.007).									
23291132	SETD8	SNP	Breast Carcinoma	miR-502-binding SNP in SET8 may modulate SET8 expression and contribute to early development of breast cancer either independently or together with the TP53 codon 72 SNP.									
22867998	SETD8	SNP	Ovarian Carcinoma	We analyzed a single nucleotide polymorphism (rs16917496) within the miR-502 mRNA seed region of the 3' UTR of SET8 in Chinese epithelial ovarian cancer (EOC) patients. The SET8 CC genotype was associated with a decreased risk of EOC in this case-control study.									
22095217	SETD8	SNP	Hepatocellular Carcinoma	The SET8 CC genotype was associated with reduced SET8 protein levels based on the immunostaining of 51 HCC tissue samples. We also found that the low SET8 levels were associated with longer HCC survival. Our data suggest that SET8 modifies HCC outcome by altering its expression, which depends, at least in part, on its binding affinity with miR-502.									
19789321	SETD8	SNP	Breast Carcinoma	The SET8 CC and TP53 GG genotypes were independently associated with an earlier age of breast cancer onset in an allele-dose-dependent manner (for SET8, 52.2 years for TT, 51.4 for TC, and 49.5 for CC; and for TP53, 53.1 years for CC, 51.5 for GC, 50.7 for GG).									
24382590	ARID1B	mutation	Colorectal Carcinoma	We found that in addition to ARID1A, which was mutated in 39% of the tumors (18/46), also ARID1B (13%, 6/46), ARID2 (13%, 6/46) and ARID4A (20%, 9/46) were frequently mutated.									
27187383	NSD1	mutation	Peritoneal Malignant Mesothelioma	Four somatic base-substitutions in NOTCH2, NSD1, PDE4DIP, and ATP10B and 1 insert frameshift mutation in BAP1 were validated by the Sanger method at the transcriptional level.									
26728869	NSD1	copy number loss	Myeloid Neoplasm	The most frequent CNVs were 7q deletion including LUC7L2 and EZH2, TP53 deletion, ETV6 deletion, gain of RAD21 on 8q, and 5q deletion, including NSD1 and NPM1.									
26438511	NSD1	mutation	Acute Myeloid Leukemia with FLT3/ITD Mutation	In addition, we identified mutations in previously unappreciated genes such as MLL3, NSD1, FAT1, FAT4, and IDH3B.									
26071460	NSD1	mutation	Acute Myeloid Leukemia with Myelodysplasia-Related Changes	Session 3 of the workshop cases displayed heterogeneity as expected within AML-MRC, yet several cases suggested that recently recognized entities may exist within this category, such as familial MDS/AML predisposition syndromes and rare cases of high-risk AML associated with the cryptic t(5;11)(q35;p15);NUP98-NSD1 that may masquerade as a del(5q).				NUP98	Fusion	Session 3 of the workshop cases displayed heterogeneity as expected within AML-MRC, yet several cases suggested that recently recognized entities may exist within this category, such as familial MDS/AML predisposition syndromes and rare cases of high-risk AML associated with the cryptic t(5;11)(q35;p15);NUP98-NSD1 that may masquerade as a del(5q).			
25631445	NSD1	mutation (loss of function)	Head and Neck Squamous Cell Carcinoma	Other distinct subgroups contained loss-of-function alterations of the chromatin modifier NSD1, WNT pathway genes AJUBA and FAT1, and activation of oxidative stress factor NFE2L2, mainly in laryngeal tumours.									
25056374	NSD1	mutation	HPV-negative Head and Neck Squamous Cell Carcinoma	HPV-negative tumors showed a mutational spectrum concordant with published lung squamous cell carcinoma analyses with enrichment for mutations in TP53, CDKN2A, MLL2, CUL3, NSD1, PIK3CA, and NOTCH genes.									
24951466	NSD1	mutation	Childhood Acute Myeloid Leukemia	The NUP98-NSD1 fusion, product of the t(5;11)(q35;p15.5) chromosomal translocation, is one of the most prevalent genetic alterations in cytogenetically normal pediatric acute myeloid leukemias and is associated with poor prognosis.				NUP98; FLT3-ITD	Fusion; positive correlation	The NUP98-NSD1 fusion, product of the t(5;11)(q35;p15.5) chromosomal translocation, is one of the most prevalent genetic alterations in cytogenetically normal pediatric acute myeloid leukemias and is associated with poor prognosis. Co-existence of an FLT3-ITD activating mutation has been found in more than 70% of NUP98-NSD1-positive patients.			
24927133	NSD1	mutation	Acute Myeloid Leukemia	The NUP98-NSD1 fusion protein occurs in a highly aggressive subtype of acute myeloid leukemia after rearrangement of the genes NUP98 and NSD1.				NUP98	Fusion	The NUP98-NSD1 fusion protein occurs in a highly aggressive subtype of acute myeloid leukemia after rearrangement of the genes NUP98 and NSD1.			
24716914	NSD1	overexpression	Gastric Carcinoma	The genes CD248, NSD1, RAB17, ABCG8, Ephb1 and P2RY2 were detected as the top overexpressed in GC biopsies.									
23999921	NSD1	mutation	Childhood Acute Myeloid Leukemia	The cytogenetically cryptic t(5;11)(q35;p15) leading to the NUP98-NSD1 fusion is a rare but recurrent gene rearrangement recently reported to identify a group of young AML patients with poor prognosis.				NUP98	Fusion	The cytogenetically cryptic t(5;11)(q35;p15) leading to the NUP98-NSD1 fusion is a rare but recurrent gene rearrangement recently reported to identify a group of young AML patients with poor prognosis.			
23630019	NSD1	mutation	Childhood Acute Myeloid Leukemia	NUP98-NSD1 fusion transcripts were detected in 6 (4.8%) of 124 pediatric AML patients.				NUP98	Fusion	NUP98-NSD1 fusion transcripts were detected in 6 (4.8%) of 124 pediatric AML patients.			
23531517	NSD1	mutation	Acute Myeloid Leukemia	Recently, NUP98/NSD1 (t(5; 11)(q35; p15)), a cytogenetically cryptic fusion, was described as recurrent event in AML, characterized by dismal prognosis and HOXA/B gene overexpression.				NUP98; HOXA/B	Fusion; positive correlation	Recently, NUP98/NSD1 (t(5; 11)(q35; p15)), a cytogenetically cryptic fusion, was described as recurrent event in AML, characterized by dismal prognosis and HOXA/B gene overexpression.			
22976956	NSD1	mutation	Acute Myeloid Leukemia	While most of the newly identified alterations were nonrecurrent, we observed an enrichment of mutations affecting genes involved in epigenetic regulation including known candidates like TET2, TET1, DNMT3A, and DNMT1, as well as mutations in the histone methyltransferases NSD1, EZH2, and MLL3.									
22832494	NSD1	mutation (loss of function)	Skin Carcinoma	Our results show that inactivating mutations in Notch1 and Nsd1, among others, may have an important role in skin carcinogenesis.									
21813447	NSD1	mutation	Acute Myeloid Leukemia	Twenty-three cases harbored the NUP98/NSD1 fusion, representing 16.1% of pediatric and 2.3% of adult CN-AML patients.				NUP98	Fusion	Twenty-three cases harbored the NUP98/NSD1 fusion, representing 16.1% of pediatric and 2.3% of adult CN-AML patients.			
20018718	NSD1	hypermethylation	Neuroblastoma; Glioma	Screening a large collection of different tumor types revealed that NSD1 CpG island hypermethylation was a common event in neuroblastomas and gliomas.									
24442206	ASXL1	mutation	Myelodysplastic Syndrome	Recently, mutations of the additional sex comb-like 1 (ASXL1) gene were identified in patients with myelodysplastic syndrome (MDS), but the interaction of this mutation with other genetic alterations and its dynamic changes during disease progression remain to be determined.				RUNX1; EZH2; IDH; NRAS; JAK2; SETBP1; SRSF2	association	ASXL1 mutation was closely associated with trisomy 8 and mutations of RUNX1, EZH2, IDH, NRAS, JAK2, SETBP1 and SRSF2, but was negatively associated with SF3B1 mutation.			
15951287	NSD1	mutation	Acute Myeloid Leukemia	Among the 59 AML patients, one NUP98-NSD1 positive case (1.7%) was detected. Two cases showed an inv(11)(p15q22)/NUP98-DDX10 fusion, one each displayed a t(5;11)(q35;p15)/NUP98-NSD1 and a t(11;20)(p15;q12)/NUP98-TOP1 fusion, and one case with a putative new fusion partner gene at 3p24 was identified.				NUP98	Fusion	Among the 59 AML patients, one NUP98-NSD1 positive case (1.7%) was detected. Two cases showed an inv(11)(p15q22)/NUP98-DDX10 fusion, one each displayed a t(5;11)(q35;p15)/NUP98-NSD1 and a t(11;20)(p15;q12)/NUP98-TOP1 fusion, and one case with a putative new fusion partner gene at 3p24 was identified.			
12353270	NSD1	mutation	Childhood Acute Myeloid Leukemia	The cryptic translocation t(5;11)(q35;p15.5), which creates a NSD1-NUP98 fusion gene, has been associated with a deletion of the long arm of chromosome 5, del(5q), in pediatric acute myeloid leukemia (AML) patients with differentiated phenotype.				NUP98	Fusion	The cryptic translocation t(5;11)(q35;p15.5), which creates a NSD1-NUP98 fusion gene, has been associated with a deletion of the long arm of chromosome 5, del(5q), in pediatric acute myeloid leukemia (AML) patients with differentiated phenotype.			
11493482	NSD1	mutation	Childhood Acute Myeloid Leukemia	By using 3'--rapid amplification of complementary DNA ends (3'-RACE) polymerase chain reaction, we identified a chimeric messenger RNA that results in the in-frame fusion of NUP98 to a novel gene, NSD1.				NUP98	Fusion	By using 3'--rapid amplification of complementary DNA ends (3'-RACE) polymerase chain reaction, we identified a chimeric messenger RNA that results in the in-frame fusion of NUP98 to a novel gene, NSD1.			
27667360	SMC1A	overexpression	Prostate Carcinoma	In the present study, we found that SMC1A was elevated in androgen-independent PCa cell lines PC-3 and DU-145 compared to androgen sensitive LNCap and 22RV1 cells by qPCR and western blot assay. Additionally, we also found that the expression of SMC1A gene was higher in prostate cancer tissues than in the adjacent normal tissues by immunohistochemical staining, and was positively correlated to tumor metastasis and recurrence by Oncomine database mining.									
26886259	SMC1A	mutation (loss of function)	Acute Promyelocytic Leukemia with PML-RARA	After prioritization and network analysis we found recurrent deleterious mutations in 8 individual genes (STAG2, U2AF1, SMC1A, USP9X, IKZF1, LYN, MYCBP2 and PTPN11) with a strong potential of being involved in APL pathogenesis.									
26781859	SMC1A	overexpression	Triple-Negative Breast Carcinoma	In the present study, we found that SMC1 expression in TNBC tissues exceeded its expression in adjacent non-tumor tissues.				SAVA	positive correlation	The results showed that the high expression of SMC1 often promoted EMT, accompanied by the enhanced expression of Brachyury. Besides, upregulated expression of Brachyury through plasmid transfection also significantly improved the level of EMT, which further indicated that SMC1 increased EMT in TNBC through the induction of Brachyury expression.			
26637483	SMC1A	mutation	Colorectal Carcinoma	SMC1A gene mutations have been reported in colorectal cancer.									
25884313	SMC1A	overexpression	Colorectal Carcinoma	The expression of SMC1A was much stronger in CRC tumor tissues than in adenomas and normal colorectal tissues.									
25080505	SMC1A	mutation	Colorectal Carcinoma	In addition, we sequenced the SMC1A gene in colorectal carcinomas and we found only one mutation.									
25038613	SMC1A	overexpression	Liver and Intrahepatic Bile Duct Carcinoma	Gene expression analysis of clinical samples demonstrated increased expression of Hec1/NDC80 and associated genes (Nek2, SMC1A, and SMC2) in 27 % of patients, highlighting the potential for using this therapeutic approach to target patients with high Hec1 expression.									
23955599	SMC1A	mutation	Myeloid Neoplasm	Here we report recurrent mutations and deletions involving multiple components of the cohesin complex, including STAG2, RAD21, SMC1A and SMC3, in different myeloid neoplasms.									
23717600	SMC1A	overexpression	Triple-Negative Breast Carcinoma	Taken together, these studies report for the first time that SMC1 is overexpressed in TNBC cells where it plays a role in cell migration and drug sensitivity, and thus provides a potential therapeutic target for this highly invasive breast cancer subtype.									
23638217	SMC1A	overexpression	Glioma	We found that SMC1A was expressed at abnormally high levels in human glioma tissue and in cultured U251 glioma cells.									
20514443	SMC1A	underexpression	Acute Myeloid Leukemia	On the protein level, expression of SMC1A was low or absent in 74 out of 116 acute myeloid leukemia specimens.									
27430247	TRIM33	underexpression	Bladder Carcinoma	TIF1γ, which catalyzes the SUMOylation of SnoN, was downregulated in BC tissues.							SnoN	positive regulation	Overexpression of TIF1γ restored the ability of SnoN to suppress the TGF-β pathway.
25381221	TRIM33	underexpression	Clear Cell Renal Cell Carcinoma	In clinical ccRCC specimens, downregulation of TRIM33 was observed with the association of both pathologic stages and grades.	miR-629	negative regulation	The miR-629 inhibitor significantly suppressed TGFβ-induced Smad activation by upregulating TRIM33 expression and subsequently inhibited the association of Smad2/3 and Smad4.						
24954480	TRIM33	underexpression	Hepatocellular Carcinoma	Reduced expression of TIF1γ was detected in HCC, especially in advanced HCC tissues, compared to adjacent noncancerous tissues.									
23676978	TRIM33	underexpression	Non-Small Cell Lung Carcinoma	Both mRNA and protein expression of TIF1γ were found significantly decreased in A549 and 95C compared with those in HBE (P<0.05).									
22469842	TRIM33	underexpression	Pancreatic Neoplasm	TIF1γ expression is markedly down-regulated in human pancreatic tumors, and Pdx1-driven Tif1γ inactivation cooperates with the Kras(G12D) oncogene in the mouse pancreas to induce intraductal papillary mucinous neoplasms.									
22046087	TRIM33	overexpression	Colorectal Carcinoma	Overexpression of TIF1γ was detected in 5/26 (19%) HP; however, it was seen in a significantly higher proportion of neoplasms, 15/25 (60%) TAs and 24/51 (47%) CRCs (P < 0.05).				Smad4	negative correlation	Furthermore, there was a correlation between TIF1γ overexpression and Smad4 loss in CRC (Kendall tau rank correlation value = 0.35, P < 0.05).			
19629168	TRIM33	underexpression	Pancreatic Neoplasm	Finally, we report that TIF1gamma expression is markedly down-regulated in human pancreatic tumors by quantitative RT-PCR and immunohistochemistry supporting the relevance of these findings to human malignancy.									
27689360	TRIM24	underexpression	Esophageal Squamous Cell Carcinoma	Both mRNA and protein expression levels of TRIM24 were found to be significantly decreased in ESCC, as judged by qRT-PCR and western blot.									
27238081	TRIM24	overexpression	Castration-Resistant Prostate Carcinoma	TRIM24 augments ARsignaling, and AR and TRIM24 co-activated genes are significantly upregulated in CRPC.									
26805734	TRIM24	overexpression	Non-Small Cell Lung Carcinoma	Study found that TRIM24 was overexpressed in non-small cell lung cancer (NSCLC) tissues and regulate cell growth, cell cycle and apoptosis in lung cell lines.				p-BAD; Bcl-2	positive correlation	Down-regulated of endogenous TRIM24 and ShTRIM24 with Gifitinib could also reduce the protein related apoptosis, such as p-BAD and Bcl-2, and the protein PIK3CA related AKT signal path in A549 cell.			
25846736	TRIM24	overexpression	Bladder Carcinoma	We found that TRIM24 expression was upregulated in 39 of 95 (41.1 %) specimens compared with normal control.							CCND1; CCNE1; p-IκBα; p-AKT	positive regulation	Western blot analysis demonstrated that TRIM24 upregulated cyclin D1, cyclin E, p-IκBα, and p-AKT expression, suggesting TRIM24 activates NF-κB and AKT pathways.
25724180	TRIM24	overexpression	Gastric Carcinoma	TRIM24 upregulation positively correlated with clinical stage, local invasion, and poor patient prognosis.							CCND1; Akt	regulation	Further analysis showed that TRIM24 overexpression upregulated cyclin D1 and Akt phosphorylation.
25281858	TRIM24	overexpression	Hepatocellular Carcinoma	Aberrantly high expression of TRIM24 occurs in human cancers, including hepatocellular carcinoma.									
24469053	TRIM24	aberrant expression	Malignant Glioma	We report here that TRIM24 expression is positively correlated with glioma malignancy and is negatively associated with prognosis of patients with newly diagnosed glioblastoma, which is the most malignant form of gliomas but displays highly heterogeneous clinical outcome.									
24409330	TRIM24	overexpression	Hepatocellular Carcinoma	Elevated TRIM24 level was found in 61.4% HCC samples (51/83) correlating with AFP (P=0.036), poor differentiation (P=0.004), intrahepatic metastasis (P=0.004), recurrence (P=0.000006), and shorter tumor-free survival time (P=0.002).							p53; Bax; CASP8; Bcl-2; BIRC5; CCND1; CDK4	negative regulation; negative regulation; negative regulation; positive regulation; positive regulation; positive regulation; positive regulation	Moreover, western blotting analysis revealed that knockdown of TRIM24 increased the protein levels of p53, Bax, and Caspase-8, and decreased Bcl-2, Survivin, Cyclin D1, and CDK4.
24345920	TRIM24	mutation	Melanoma	NGS data analysis of 51 additional melanomas revealed a second BRAF fusion (TRIM24-BRAF) in a pan-negative sample; MAPK signaling induced by TRIM24-BRAF was also MEK inhibitor sensitive. 				BRAF	Fusion	NGS data analysis of 51 additional melanomas revealed a second BRAF fusion (TRIM24-BRAF) in a pan-negative sample; MAPK signaling induced by TRIM24-BRAF was also MEK inhibitor sensitive. 			
23717505	TRIM24	overexpression	Head and Neck Squamous Cell Carcinoma	TRIM24 variants were up-regulated in 56 HNSCC samples (P<.001) and 9 HNSCC cell lines (P<.05).									
22666376	TRIM24	overexpression	Non-Small Cell Lung Carcinoma	TRIM24 was found to be overexpressed in 81 of 113 (71.7%) human lung cancer samples and correlated with p-TNM stage (p = 0.0006), poor differentiation (p = 0.004), Ki67 index (p<0.0001), cyclin D1(p = 0.0096) and p-Rb expression (p = 0.0318).							CCNA1; CCNB1; CCND1; CCNE1; p-Rb; P27	positive regulation; positive regulation; positive regulation; positive regulation; positive regulation; negative regulation	Western blotting analysis revealed that knockdown of TRIM24 decreased the protein levels of Cyclin A, Cyclin B, Cyclin D1, cyclin E and p-Rb and increased P27 expression.
25918110	BAG6	underexpression	Breast Carcinoma	The main subexpressed protein network included mitochondrial proteins involved in oxidative phosphorylation. We propose BAG6, DDX39, ANXA8 and COX4 as putative biomarkers in breast cancer.									
25884493	BAG6	polymorphism	Non-Small Cell Lung Carcinoma	Logistic regression analyses revealed that genotypes and alleles of BAG6 were independent predictive factor for non small cell lung cancer risk in the Norwegian and combined Croatian-Norwegian subjects, after adjustment for age and gender.									
24989925	BAG6	SNP	Lung Carcinoma	Furthermore, BAT3 rs3117582 increased lung cancer risk (OR=1.31, 95 % CI, 1.26-1.35, P<0.00001).									
23565320	BAG6	SNP	Lung Carcinoma	Our results provide additional evidence to suggest that the MSH5/BAT3 locus is associated with increased lung cancer risk among smokers, and that associations with other SNPs may vary depending upon MSH5/BAT3 genotype.									
18978787	BAG6	mutation	Lung Carcinoma	Pooling data with two other GWA studies (5,095 cases, 5,200 controls) and with replication in an additional 2,484 cases and 3,036 controls, we identified two newly associated risk loci mapping to 6p21.33 (rs3117582, BAT3-MSH5; P(combined) = 4.97 x 10(-10)) and 5p15.33 (rs401681, CLPTM1L; P(combined) = 7.90 x 10(-9)).									
24442206	SETBP1	mutation	Primary Myelodysplastic Syndrome	ASXL1 mutation was closely associated with trisomy 8 and mutations of RUNX1, EZH2, IDH, NRAS, JAK2, SETBP1 and SRSF2, but was negatively associated with SF3B1 mutation.				ASXL1	association	ASXL1 mutation was closely associated with trisomy 8 and mutations of RUNX1, EZH2, IDH, NRAS, JAK2, SETBP1 and SRSF2, but was negatively associated with SF3B1 mutation.			
27633981	NCOA2	mutation	Angiofibroma	The t(5;8;17)(p15;q13;q21) threeway chromosomal translocation targeted AHRR (on 5p15), NCOA2 (on 8q13), and ETV4 (on 17q21) generating the inframe fusions AHRRNCOA2 and NCOA2ETV4 aswellas an outofframe ETV4AHRR transcript.				AHRR; ETV4	Fusion	The t(5;8;17)(p15;q13;q21) threeway chromosomal translocation targeted AHRR (on 5p15), NCOA2 (on 8q13), and ETV4 (on 17q21) generating the inframe fusions AHRRNCOA2 and NCOA2ETV4 aswellas an outofframe ETV4AHRR transcript.			
27606620	NCOA2	overexpression	Prostate Carcinoma	The continued activation of androgen receptor (AR) transcription and elevated expression of AR and transcriptional intermediary factor 2 (TIF2) coactivator observed in prostate cancer (CaP) recurrence and the development of castration-resistant CaP (CRPC) support a screening strategy for small-molecule inhibitors of AR-TIF2 protein-protein interactions (PPIs) to find new drug candidates.									
24445767	ATRX	mutation	Astrocytoma; Glioblastoma	Grades II and III astrocytomas, as well as secondary GBMs are characterized by IDH1, TP53, and ATRX mutations, whereas oligodendrogliomas most frequently harbor codeletion of 1p/19q and mutations in CIC, FUBP1, and the TERT promoter.									
26854485	NCOA2	mutation	Acute Myeloid Leukemia	The MOZ-TIF2 translocation, which fuses monocytic leukemia zinc finger protein (MOZ) histone acetyltransferase (HAT) with the nuclear co-activator TIF2, is associated with the development of acute myeloid leukemia.							INK4a; ARF	negative regulation	We describe here that, indeed, MOZ-TIF2 silences expression of the CDKN2A locus (p16(INK4a) and p19(ARF)), inhibits the triggering of senescence and enhances proliferation, providing conditions favorable to the development of leukemia.
26845637	NCOA2	mutation	Angiofibroma	The AHRR-NCOA2 fusion gene was detected in eight cases, and NCOA2 gene rearrangement in nine cases.				AHRR	Fusion	The AHRR-NCOA2 fusion gene was detected in eight cases, and NCOA2 gene rearrangement in nine cases.			
26799514	NCOA2	overexpression (copy number gain)	Prostate Carcinoma	In the subset of tumors with ERG fusion genes (ERG+), five genes were identified as significantly overexpressed (false discovery rate [FDR], �?5%) in tumors with relative 8q24 gain, namely VN1R1, ZNF417, CDON, IKZF2, and NCOA2.									
26501226	NCOA2	mutation	Spindle Cell Rhabdomyosarcoma	Ten of the 11 congenital/infantile SRMS showed recurrent fusion genes: with novel VGLL2 rearrangements seen in 7 (63%), including VGLL2-CITED2 fusion in 4 and VGLL2-NCOA2 in 2 cases.				VGLL2	Fusion	Ten of the 11 congenital/infantile SRMS showed recurrent fusion genes: with novel VGLL2 rearrangements seen in 7 (63%), including VGLL2-CITED2 fusion in 4 and VGLL2-NCOA2 in 2 cases.			
25823027	NCOA2	underexpression (mutation)	Colorectal Carcinoma	This chimeric LACTB2-NCOA2 transcript was detected in 6 out of 99 (6.1%) colorectal cancer (CRC) cases, where NCOA2 was significantly downregulated.				LACTB2	Fusion	This chimeric LACTB2-NCOA2 transcript was detected in 6 out of 99 (6.1%) colorectal cancer (CRC) cases, where NCOA2 was significantly downregulated.			
25664849	NCOA2	overexpression (copy number gain)	Prostate Carcinoma	SRC-2 was highly elevated in a variety of tumors, especially in prostate cancer, in which SRC-2 was amplified and overexpressed in 37% of the metastatic tumors evaluated.									
25336010	NCOA2	mutation	Mesenchymal Chondrosarcoma	Recently, a tumor-specific HEY1-NCOA2 fusion gene was identified in MC.				HEY1	Fusion	Recently, a tumor-specific HEY1-NCOA2 fusion gene was identified in MC.			
25295534	NCOA2	overexpression; copy number gain	Castration-Resistant Prostate Carcinoma	Here we determined that nuclear receptor coactivator 2 (NCoA2, also known as SRC-2), which is frequently amplified or overexpressed in patients with metastatic PCa, mediates development of CRPC.									
24445767	IDH1	mutation	Astrocytoma; Oligoastrocytoma; Oligodendroglioma; Glioblastoma, IDH-Mutant	Mutations in IDH1 are frequent in grades II and III astrocytomas, oligodendrogliomas, and oligoastrocytomas, as well as secondary GBMs.									
24213582	NCOA2	mutation	Embryonal Rhabdomyosarcoma	We analyzed a complex chromosomal translocation in a case of embryonal rhabdomyosarcoma (RMS) and showed that it generates the fusion gene PAX3 (paired box 3)-NCOA2 (nuclear receptor coactivator 2).				PAX3	Fusion	We analyzed a complex chromosomal translocation in a case of embryonal rhabdomyosarcoma (RMS) and showed that it generates the fusion gene PAX3 (paired box 3)-NCOA2 (nuclear receptor coactivator 2).			
24124145	NCOA2	mutation	Mesenchymal Chondrosarcoma	HEY1-NCOA2 fusion transcript was detected in all six cases of mesenchymal chondrosarcoma but in none of the meningeal HPC cases (0/11) that were evaluable with RT-PCR.				HEY1	Fusion	HEY1-NCOA2 fusion transcript was detected in all six cases of mesenchymal chondrosarcoma but in none of the meningeal HPC cases (0/11) that were evaluable with RT-PCR.			
23463663	NCOA2	mutation	Spindle Cell Rhabdomyosarcoma	NCOA2 rearrangements were found in two additional spindle cell RMS from a 3-month-old and a 4-week-old child.									
23252872	NCOA2	mutation	Mesenchymal Chondrosarcoma	A tumor specific fusion gene, HEY1-NCOA2 fusion, was recently identified in this tumor.				HEY1	Fusion	A tumor specific fusion gene, HEY1-NCOA2 fusion, was recently identified in this tumor.			
23144319	NCOA2	SNP	Non-Small Cell Lung Carcinoma	These SNPs were located in the genomic regions of the FAM154A, ANKS1A, DLST, THSD7B, NCOA2, CDH8, SLC35D2, NALCN and EGF genes.									
22876322	NCOA2	mutation	Endometrial Carcinoma	No significant association was observed for any individual SNPs or genes, but a marginal association of the cumulative genetic variation of the NCOA2 complex as a whole (NCOA2, CARM1, CREBBP, PRMT1 and EP300) with endometrial cancer risk was observed (P(adjusted) = 0.033).									
22373549	NCOA2	mutation	Acute Lymphoblastic Leukemia	ETV6-RUNX1 were observed in six cases (3.4%), ETV6-JAK2 in three cases (1.7%), ETV6-ABL1 in two cases (1.1%), and ETV6-ABL2, ETV6-NCOA2, ETV6-SYK, and PAX5-ETV6 each in one case (0.6%).				ETV6	Fusion	ETV6-RUNX1 were observed in six cases (3.4%), ETV6-JAK2 in three cases (1.7%), ETV6-ABL1 in two cases (1.1%), and ETV6-ABL2, ETV6-NCOA2, ETV6-SYK, and PAX5-ETV6 each in one case (0.6%).			
22337624	NCOA2	mutation	Angiofibroma	RT-PCR revealed in-frame AHRR/NCOA2 and NCOA2/AHHR transcripts in all four cases.				AHRR	Fusion	RT-PCR revealed in-frame AHRR/NCOA2 and NCOA2/AHHR transcripts in all four cases.			
22034177	NCOA2	mutation	Mesenchymal Chondrosarcoma	RT-PCR or FISH evidence of this HEY1-NCOA2 fusion was present in all additional mesenchymal chondrosarcomas tested with a definitive histologic diagnosis and adequate material for analysis (n = 9) but was absent in 15 samples of other subtypes of chondrosarcomas.				HEY1	Fusion	RT-PCR or FISH evidence of this HEY1-NCOA2 fusion was present in all additional mesenchymal chondrosarcomas tested with a definitive histologic diagnosis and adequate material for analysis (n = 9) but was absent in 15 samples of other subtypes of chondrosarcomas.			
19953635	NCOA2	mutation	Rhabdomyosarcoma	In this study, cytogenetic and/or molecular characterization to include FISH, reverse transcription polymerase chain reaction (RT-PCR), and sequencing analyses of five rhabdomyosarcomas [four ARMS and one embryonal rhabdomyosarcoma (ERMS)] with novel, recurrent t(2;2)(p23;q35) or t(2;8)(q35;q13) revealed that these noncanonical translocations fuse PAX3 to NCOA1 or NCOA2, respectively.									
19198856	NCOA2	overexpression	Colorectal Carcinoma	The expression of the three proteins was significantly increased in epithelial cells of carcinomas compared to normal mucosa. In carcinomas, a significant correlation between the levels of expression of AIB1 and TIF2 was noted.									
18754862	NCOA2	mutation	Acute Myeloid Leukemia	The protein MOZ (monocytic leukemia zinc finger protein) is a Myst (MOZ, Ybf2 (Sas3), Sas2, Tip60)-type histone acetyltranseferase (HAT) that generates fusion genes, such as MOZ-TIF2, MOZ-CBP and MOZ-p300, in acute myeloid leukemia (AML) by chromosomal translocation.				MOZ	Fusion	The protein MOZ (monocytic leukemia zinc finger protein) is a Myst (MOZ, Ybf2 (Sas3), Sas2, Tip60)-type histone acetyltranseferase (HAT) that generates fusion genes, such as MOZ-TIF2, MOZ-CBP and MOZ-p300, in acute myeloid leukemia (AML) by chromosomal translocation.			
18360708	NCOA2	underexpression	Colorectal Carcinoma	Eight genes were selected to confirm the microarray data by RT-PCR and real-time PCR, from which CSTA, DAP13, TAF12, RIS1, CDKN3 and MAGOH were up-regulated, and KLHL11 and NCOA2 were down-regulated.									
18281529	NCOA2	mutation	Childhood Leukemia	We have identified a novel recurrent t(8;12)(q13;p13), which results in a fusion between the transcriptional repressor ETV6 (TEL) and the transcriptional coactivator NCOA2 (TIF2) in six cases of childhood leukemia expressing both T-lymphoid and myeloid antigens.				ETV6	Fusion	We have identified a novel recurrent t(8;12)(q13;p13), which results in a fusion between the transcriptional repressor ETV6 (TEL) and the transcriptional coactivator NCOA2 (TIF2) in six cases of childhood leukemia expressing both T-lymphoid and myeloid antigens.			
17805042	NCOA2	mutation	Childhood Acute Myeloid Leukemia	To our knowledge, this is the eighth overall and the fourth childhood case of acute myeloid leukemia with inv(8) (p11q13) with MOZ-TIF2 fusion.				MOZ	Fusion	To our knowledge, this is the eighth overall and the fourth childhood case of acute myeloid leukemia with inv(8) (p11q13) with MOZ-TIF2 fusion.			
12676584	NCOA2	mutation	Acute Myeloid Leukemia	The MOZ-TIF2 fusion is associated with acute myeloid leukemia (AML) with inv(8)(p11q13).				MOZ	Fusion	The MOZ-TIF2 fusion is associated with acute myeloid leukemia (AML) with inv(8)(p11q13).			
11489729	NCOA2	underexpression	Prostate Carcinoma	In every prostatic tissue specimen, the expression levels of TIF2 and RAC3 were very low.									
10690532	NCOA2	overexpression	Ductal Breast Carcinoma In Situ	The expression levels of ER-alpha, TIF2, and CBP were significantly higher in the intraductal carcinomas than those in the normal mammary glands.									
10459350	NCOA2	mutation	Acute Myeloid Leukemia	We have recently cloned the inv(8)(p11q13) in a patient with acute myeloid leukemia (AML), and demonstrated a fusion between the MOZ and TIF2 genes at 8p11 and 8q13, respectively.				MOZ	Fusion	We have recently cloned the inv(8)(p11q13) in a patient with acute myeloid leukemia (AML), and demonstrated a fusion between the MOZ and TIF2 genes at 8p11 and 8q13, respectively.			
25602259	SUV39H1	aberrant expression	Brain Glioblastoma	SETDB1 and cytoplasmic SUV39H1 levels increased from normal brain through low-grade to high-grade tumors, nuclear SUV39H1 correlating inversely with grade.									
24844570	SUV39H1	overexpression	Hepatocellular Carcinoma	Real-time polymerase chain reaction analysis indicated high levels of SUV39H1 expression in 24 of 42 (57.1%) HCC surgical samples compared with corresponding nontumor tissues.				H3K9me3	correlation	Expression levels of SUV39H1 but not those of ESET were significantly correlated with H3K9me3 levels.			
24737085	SUV39H1	overexpression	Gastric Carcinoma	We found that the expression of Suv39H1 and tri-methylated H3K9 in gastric carcinoma was higher than that in benign gastric diseases (p<0.05).									
24564251	SUV39H1	overexpression	Non-Small Cell Lung Carcinoma	Our results suggest that overexpression of HMGA1, E2F6, IRF1, and TFDP1 and downregulation or no expression of SUV39H1, RBL1, and HNRPD in blood is suitable for diagnosis of lung adenocarcinoma and squamous cell carcinoma sub-types of NSCLC.									
23943221	SUV39H1	overexpression	Glioma	Our results indicate overexpression of SETDB1 and SUV39H1 in gliomas.									
22991213	SUV39H1	overexpression	Hepatocellular Carcinoma	In this study, we found that SUV39H1 was frequently up-regulated in human HCCs and was significantly associated with increased Ki67 expression (P < 0.001) and the presence of venous invasion (P = 0.017).	miR-125b	negative regulation	We also identified microRNA-125b (miR-125b) as a post-transcriptional regulator of SUV39H1. Our observations suggested that miR-125b down-regulation may account for the aberrant SUV39H1 level in HCC.						
17657744	SUV39H1	overexpression	Colorectal Carcinoma	The mRNA levels of SUV39H1 and DNMT1 were elevated in 25% and 42% of 219 colorectal cancers, respectively.				DNMT1	positive correlation	Patients with elevated mRNA levels of SUV39H1 showed a higher prevalence of DNMT1 elevation than those without (61 vs. 35%, p = 0.0008).			
25791729	ATF17P	SNP	Malignant Testicular Germ Cell Tumor	Since 2009, several genome wide association studies (GWAS) have been published, reporting on single-nucleotide polymorphisms (SNPs) with significant associations in or near the genes KITLG, SPRY4, BAK1, DMRT1, TERT, ATF7IP, HPGDS, MAD1L1, RFWD3, TEX14, and PPM1E, likely to be related to TGCT development.									
25400122	ATF17P	mutation	Acute Lymphoblastic Leukemia	We report a 10-year-old male with relapsing Ph-like acute lymphoblastic leukemia (ALL) bearing ATF7IP/PDGFRB translocation.				PDGFRB	Fusion	We report a 10-year-old male with relapsing Ph-like acute lymphoblastic leukemia (ALL) bearing ATF7IP/PDGFRB translocation.			
24628626	ATF17P	mutation	Childhood B Acute Lymphoblastic Leukemia	We identified ATF7IP as a novel PDGFRB fusion partner in B-progenitor acute lymphoblastic leukaemia (B-ALL) and showed that B-ALL with ATF7IP/PDGFRB translocation is included within the genomic lesions of a Philadelphia chromosome (Ph)-like ALL subgroup.				PDGFRB	Fusion	We identified ATF7IP as a novel PDGFRB fusion partner in B-progenitor acute lymphoblastic leukaemia (B-ALL) and showed that B-ALL with ATF7IP/PDGFRB translocation is included within the genomic lesions of a Philadelphia chromosome (Ph)-like ALL subgroup.			
21564132	ATF17P	polymorphism	Malignant Testicular Germ Cell Tumor	Three genome-wide association studies of testicular cancer have uncovered predisposition alleles in or near KITLG, BAK1, SPRY4, TERT, ATF7IP and DMRT1.									
21551455	ATF17P	mutation	Malignant Testicular Germ Cell Tumor	Susceptibility to testicular germ cell tumors (TGCT) has a significant heritable component, and genome-wide association studies (GWASs) have identified association with variants in several genes, including KITLG, SPRY4, BAK1, TERT, DMRT1 and ATF7IP.									
21255381	ATF17P	polymorphism	Malignant Testicular Germ Cell Tumor	Three recent genome-wide association studies of testicular germ cell tumors have uncovered predisposition alleles in or near several genes, including KITLG, BAK1, SPRY4, TERT, ATF7IP, and DMRT1.									
20543847	ATF17P	SNP	Malignant Testicular Germ Cell Tumor	We also identified a locus on chromosome 12 (rs2900333, OR=1.27, P=6.16x10(-10)) that contains ATF7IP, a regulator of TERT expression.									
24674452	PHF6	loss of expression (mutation)	Acute Myeloid Leukemia	Moreover, a recurrent microdeletion was detected in Xq26.3 (n=2), causing loss of PHF6 expression, a potential tumor suppressor gene, and the miR-424, which is involved in the development of acute myeloid leukemia.									
24674452	IDH1	mutation	Myelodysplastic Syndrome	In addition to the detection of mutations known to be associated with MDS in NRAS, KRAS, MPL, NPM1, IDH1, PTPN11, APC and MET, single nucleotide variants so far unrelated to MDS in STK11 (n=1), KDR (n=3), ATM (n=1) and JAK3 (n=2) were identified.									
24682267	WHSC1	mutation	Mantle Cell Lymphoma	We further identified a number of novel genes recurrently mutated in patients with MCL including RB1, WHSC1, POT1, and SMARCA4.									
27556922	PBRM1	mutation	Clear Cell Renal Cell Carcinoma	Recent large-scale next-generation sequencing analyses reveal that PBRM1 is the second most frequently mutated gene harboring many truncated mutations and has a suspected tumor suppressor role in ccRCC.									
27407122	PBRM1	mutation	Renal Cell Carcinoma	Considering the genes known to be mutated in RCC at significant frequency, PBRM1 mutations were identified in 7 ERs (54%) versus 1 PRP (7%) (P=.01).									
26864202	PBRM1	mutation	Clear Cell Renal Cell Carcinoma	The most frequent SSNVs shared by carcinomatous and sarcomatoid elements were in known ccRCC genes including von Hippel-Lindau tumor suppressor (VHL), polybromo 1 (PBRM1), SET domain containing 2 (SETD2), phosphatase and tensin homolog (PTEN).									
26857926	PBRM1	genetic alteration	Gallbladder Carcinoma	A review of the literature reveals alterations in ARID1A, BRAF, CDKN2A/B, EGFR, ERBB2-4, HKN-RAS, PIK3CA, PBRM1, and TP53.									
24682267	SMARCA4	mutation	Mantle Cell Lymphoma	We further identified a number of novel genes recurrently mutated in patients with MCL including RB1, WHSC1, POT1, and SMARCA4.									
26484545	PBRM1	mutation	Clear Cell Renal Cell Carcinoma	Combined analysis of three recent large-scale clear cell renal cell carcinoma (CCRCC) mutation sequencing projects identified a significantly increased mutation frequency of PBRM1 and the X chromosome encoded KDM5C in tumors from male patients and BAP1 in tumors from female patients.									
26464681	PBRM1	underexpression	Breast Carcinoma	The status of PBRM1 protein in breast cancer tissues is much lower than that in paracarcinoma tissues.									
26452128	PBRM1	loss of expression	Clear Cell Renal Cell Carcinoma	Clear cell Renal Cell Carcinoma (ccRCC) is due to loss of von Hippel-Lindau (VHL) gene and at least one out of three chromatin regulating genes BRCA1-associated protein-1 (BAP1), Polybromo-1 (PBRM1) and Set domain-containing 2 (SETD2).									
26300218	PBRM1	mutation	Clear Cell Renal Cell Carcinoma	In clear cell renal cell carcinoma BAP1 and PBRM1 are 2 of the most commonly mutated genes (10% to 15% and 40% to 50%, respectively).									
26166446	PBRM1	mutation (loss of function)	Clear Cell Renal Cell Carcinoma	These mutations cause loss of function of several genes located in close proximity to VHL and include PBRM1, BAP1 and SETD2.									
26003625	PBRM1	mutation	Clear Cell Renal Cell Carcinoma	A mutation in PBRM1 was recently identified in clear cell renal cell carcinoma (ccRCC).									
25997916	PBRM1	overexpression	Renal Cell Carcinoma	Overall 25 of 53 patients (47%) had high PBRM1 expression in the tumor.									
25978027	PBRM1	underexpression	Bladder Carcinoma	Our results showed that PBRM1 expression was significantly reduced in bladder cancer cells and tissues compared to their normal counterparts.									
25966424	PBRM1	mutation	Cholangiocarcinoma	A series of highly recurrent mutations in genes such as TP53, KRAS, SMAD4, BRAF, MLL3, ARID1A, PBRM1 and BAP1, which are known to be involved in cell cycle control, cell signalling pathways and chromatin dynamics, have led to investigations of their roles, through molecular to mouse modelling studies, in cholangiocarcinogenesis.									
25911086	PBRM1	mutation (loss of function)	Renal Cell Carcinoma	We show for the first time that an inherited mutation in PBRM1 predisposes to RCC.									
25873528	PBRM1	mutation	Clear Cell Renal Cell Carcinoma	PBRM1 was found to be mutated in about 40% of ccRCC tumors, whereas BAP1 and SETD2 were each mutated in about 10-15% of ccRCC tumors.									
24774224	SIRT5	underexpression	Hepatocellular Carcinoma	In addition, we found that IHC studies of other sirtuin members showed a decreased expression of Sirt2, Sirt4 and Sirt5 and an increased expression of Sirt1, Sirt6 and Sirt7 in intratumoral tissues compared with peritumoral tissues.									
25628030	PBRM1	genetic alteration	Clear Cell Renal Cell Carcinoma	Recently, comprehensive molecular studies in CCRCC revealed important genetic alterations, including changes in the VHL, PBRM1, and ARID1A genes.									
25583177	PBRM1	copy number change; aberrant methylation; mutation	Clear Cell Renal Cell Carcinoma	We also determined chromosome copy-number aberrations, methylation status, and gene mutations in von Hippel-Lindau and PBRM1.									
24774224	SIRT3	underexpression	Hepatocellular Carcinoma	IHC and WB studies both showed a decreased expression of Sirt3 in tumoral tissues compared with peritumoral tissues (P = 0.003 for IHC, P = 0.0042 for WB).									
25465300	PBRM1	loss of expression (mutation)	Renal Cell Carcinoma	Consistent with the mutation rate, loss of PBRM1 and BAP1 staining occurred in 43% (80/187) and 10% (18/187) of ccRCC cases, respectively. However, loss of PBRM1 staining occurred in only 3% (2/59), 6% (1/17), and 0% (0/34) of pRCC, chRCC, and RO tumors, respectively (P<0.0001).									
25365943	PBRM1	mutation	Clear Cell Renal Cell Carcinoma	In the past decade, our understanding of the genetic mutations associated with sporadic forms of RCC has increased considerably, with the most common mutations in clear cell RCC seen in the VHL, PBRM1, BAP1, and SETD2 genes.									
25200863	PBRM1	loss of expression	Epithelioid Sarcoma	Of the 23 ES cases, 19 (82.6%) showed a loss of PBRM1, and 18 (78.3%), a loss of INI1. In most cases (17, 73.9%), loss of INI1 and PBRM1 expression was observed.									
24974848	PBRM1	mutation	Thymic Carcinoma	Notably, we identified recurrent mutations of known cancer genes, including TP53, CYLD, CDKN2A, BAP1 and PBRM1, in thymic carcinomas.									
24867389	PBRM1	genetic aberration	Clear Cell Renal Cell Carcinoma	The genes most frequently involved were KRAS (28%), TP53 (18%), ARID1A (12%), IDH1/2 (9%), PBRM1 (9%), BAP1 (7%), and PIK3CA (7%).									
24821879	PBRM1	copy number loss	Clear Cell Renal Cell Carcinoma	Several additional tumor suppressor genes have been identified near the VHL gene, within a region that is frequently deleted in ccRCC on chromosome 3p: SETD2, BAP1, and PBRM1.									
24916674	ARID2	mutation	Malignant Mesothelioma	Direct sequencing showed that homozygous mutations in SMARCA4, PBRM1 and ARID2 were somatic									
24166983	PBRM1	mutation	Clear Cell Renal Cell Carcinoma	BAP1 (11%), PBRM1 (33%), SETD2 (16%), JARID1c (4%), and KDM6A (3%) mutations were identified.									
24063284	PBRM1	underexpression	Renal Cell Carcinoma	PBRM1 acts as tumor suppressor in RCC, and its downregulation is associated with increased proliferation and aggressive behavior in RCC.	miR-590-5p	negative regulation	We confirmed that PBRM1 was a direct target of miR-590-5p. miR-590-5p could regulate PBRM1 mRNA and protein expressions in clear cell renal carcinoma (ccRCC) ACHN and 786-O cells. Downregulation of miR-590-5p, which resulted in increased PBRM1, inhibited proliferation and invasion of ccRCC cells.						
24053427	PBRM1	overexpression	Clear Cell Renal Cell Carcinoma	The protein expression of PBRM1 was associated with tumour stage (P < 0.001), clinical stage (P < 0.001), pN stage (P = 0.035) and tumour size (P = 0.002).									
23832661	PBRM1	mutation	Clear Cell Renal Cell Carcinoma	The four most commonly mutated genes in RCC of clear-cell type (the most common type) are two-hit tumor suppressor genes, and they cluster in a 43-Mb region on chromosome 3p that is deleted in approximately 90% of tumors: VHL (mutated in 80%), PBRM1 (50%), BAP1 (15%), and SETD2 (15%).									
23644518	PBRM1	mutation (loss of function)	Clear Cell Renal Cell Carcinoma	Recent sequencing studies of clear cell (conventional) renal cell carcinoma (ccRCC) have identified inactivating point mutations in the chromatin-modifying genes PBRM1, KDM6A/UTX, KDM5C/JARID1C, SETD2, MLL2 and BAP1.									
23636849	PBRM1	mutation	Castration-Resistant Prostate Carcinoma	Sixty-two somatic variants altered proteins in tumors, including cancer-associated genes, TMPRSS2-ERG, PBRM1, and TET2.									
23620406	PBRM1	mutation	Clear Cell Renal Cell Carcinoma	3p21 tumor suppressors are frequently mutated in both the MSKCC (PBRM1, 30.3%; SETD2, 7.4%; BAP1, 6.4%) and the TCGA (PBRM1, 33.5%; SETD2, 11.6%; BAP1, 9.7%) cohorts.									
23416164	PBRM1	mutation	Clear Cell Renal Cell Carcinoma	Recently, exome sequencing studies have revealed that the SWI/SNF (switch/sucrose nonfermentable) members PBRM1 and ARID1A are mutated in ccRCC, and it has also been suggested that aberrant chromatin regulation is a key step in kidney cancer pathogenesis.									
24916674	SMARCC1	mutation	Malignant Mesothelioma	In one patient, homozygous germline variants were observed for SMARCC1 and SETD2 in chr3p22.1-3p14.2.									
23036577	PBRM1	mutation	Clear Cell Renal Cell Carcinoma	Recent sequencing efforts have identified several novel frequent mutations of histone modifying and chromatin remodeling genes in ccRCC including PBRM1, SETD2, BAP1, and KDM5C.									
22949125	PBRM1	loss of expression	Clear Cell Renal Cell Carcinoma	We found that a significant number of ccRCC cancer cell lines lack detectable PBRM1 expression.									
22805307	PBRM1	copy number loss	Clear Cell Renal Cell Carcinoma	Clear cell renal cell carcinoma (ccRCC) is cytogenetically characterized by chromosome 3p deletions that harbor the ccRCC-related von Hippel-Lindau, PBRM1, BAP1, and SETD2 tumor suppressor genes, along with chromosome 5q amplifications where the significance has been unclear.									
22461374	PBRM1	mutation (loss of function)	Clear Cell Renal Cell Carcinoma	We identified inactivating mutations in VHL, PBRM1, and BAP1. Sequencing of PBRM1 in ccRCC-derived cell lines confirmed its frequent inactivation in ccRCC.									
22249190	PBRM1	inactivation 	Clear Cell Renal Cell Carcinoma	Inactivation of other tumor suppressor genes such as SETD2, KDM6A, KDM5C and PBRM1 has been reported in ccRCC--notably, the proteins encoded by these genes are involved in histone and chromatin regulation.									
24916674	SMARCA4	mutation	Malignant Mesothelioma	Direct sequencing showed that homozygous mutations in SMARCA4, PBRM1 and ARID2 were somatic.									
22156295	PBRM1	mutation	Pancreatic Carcinoma	We observed a much higher rate of indel mutations in the affected cases and identified recurrent truncating indels in several cancer genes such as VHL, PBRM1, and JARID1C.									
15735765	PBRM1	mutation	Breast Carcinoma	BAF180 can be mutated and has tumor suppressing properties in breast cancer.									
10086727	TFPT	mutation	Acute Lymphoblastic Leukemia	The E2A/FB1 fusion appears to be a recurrent feature of pre-B ALLs, suggesting that it might have a role in the development and/or progression of leukemogenesis.				E2A	Fusion	The E2A/FB1 fusion appears to be a recurrent feature of pre-B ALLs, suggesting that it might have a role in the development and/or progression of leukemogenesis.			
27604143	WHSC1	overexpression	Lung Carcinoma	The histone methyltransferase NSD2/WHSC1/MMSET is overexpressed in a number of solid tumors but its contribution to the biology of these tumors is not well understood. NSD2 knock down combined with MEK or BRD4 inhibitors causes co-operative inhibitory responses on cell growth.									
27229140	WHSC1	underexpression	Chondroblastoma	Here we show that H3K36 methylation is reduced globally in human chondroblastomas and in chondrocytes harboring the same genetic mutation, due to inhibition of at least two H3K36 methyltransferases, MMSET and SETD2, by the H3.3K36M mutant proteins.									
25022553	ASXL1	mutation	Acute Myeloid Leukemia	The most frequent gene mutations from our data were FLT3-ITD/FLT3-TKD (28.4%), followed by mutations in IDH1/IDH2 (28.8%), RUNX1 (23.9%), N-RAS/K-RAS (12.3%), TET2 (8.2%), DNMT3A (8.1%), MLL-PTD (7.8%), and ASXL1 (6.3%).									
25790293	WHSC1	mutation	B Acute Lymphoblastic Leukemia	Six pathways were frequently mutated, with NT5C2, CREBBP, WHSC1, TP53, USH2A, NRAS and IKZF1 mutations enriched at relapse.									
25748235	WHSC1	mutation	Testicular Germ Cell Tumor	Exome sequencing of all eight tumors revealed 87 somatic non-synonymous mutations (median 10 per tumor; range 5-21), some in already known cancer genes such as CIITA, NEB, platelet-derived growth factor receptor α (PDGFRA), and WHSC1.									
25280969	WHSC1	overexpression	Head and Neck Squamous Cell Carcinoma	Immunohistochemical analysis of locoregionally advanced SCCHN, dysplastic, and normal epithelial tissue specimens revealed that WHSC1 expression and dimethylation of histone H3 lysine 36 (H3K36me2) were significantly higher in SCCHN tissues than in normal epithelium.							NEK7	regulation	Microarray expression profile analysis revealed NIMA-related kinase-7 (NEK7) to be a downstream target gene of WHSC1, and chromatin immunoprecipitation (ChIP) assays showed that NEK7 was directly regulated by WHSC1 through H3K36me2.
25093175	WHSC1	overexpression	Plasma Cell Myeloma	However, approximately 30% of t(4; 14)MM patients do not express FGFR3 and have poor prognosis irrespective of FGFR3 expression, whereas MMSET overexpression is universal in t(4; 14) cases.									
24729354	WHSC1	mutation	Plasma Cell Myeloma	Nearly half of the cases are nonhyperdiploid and show IGH translocations with the following partner genes: CCND1, FGFR3 and MMSET, MAF, MAFB, and CCND3.									
25022553	IDH1	mutation	Acute Myeloid Leukemia with Minimal Differentiation	The most frequent gene mutations from our data were FLT3-ITD/FLT3-TKD (28.4%), followed by mutations in IDH1/IDH2 (28.8%), RUNX1 (23.9%), N-RAS/K-RAS (12.3%), TET2 (8.2%), DNMT3A (8.1%), MLL-PTD (7.8%), and ASXL1 (6.3%).									
24638926	WHSC1	overexpression	Plasma Cell Myeloma	In studies of patients with multiple myeloma (MM), gene expression profiling (GEP) of myeloma cells demonstrates substantially higher expression of MMSET, FGFR3, CCND3, CCND1, MAF, and MAFB--the partner genes of 14q32 translocations--than GEP of plasma cells from healthy individuals.									
24145436	WHSC1	mutation	Mantle Cell Lymphoma	We identified 25 significantly mutated genes, including known drivers such as ataxia-telangectasia mutated (ATM), cyclin D1 (CCND1), and the tumor suppressor TP53; mutated genes encoding the anti-apoptotic protein BIRC3 and Toll-like receptor 2 (TLR2); and the chromatin modifiers WHSC1, MLL2, and MEF2B.									
24076604	WHSC1	aberrant expression	Childhood Acute Lymphoblastic Leukemia	Ectopic expression of the variant induced a chromatin signature characteristic of NSD2 hyperactivation and promoted transformation.									
23980095	WHSC1	overexpression (mutation)	Plasma Cell Myeloma	Histone lysine methyltransferase NSD2 (WHSC1/MMSET) is overexpressed frequently in multiple myeloma due to the t(4;14) translocation associated with 15% to 20% of cases of this disease.									
23955539	WHSC1	overexpression	Lung Carcinoma	Induction of lung cancer progression by TADC-derived resistin is associated with increased expression of Wolf-Hirschhorn syndrome candidate 1 (WHSC1), a histone methyltransferase.									
23900284	WHSC1	overexpression (mutation)	Plasma Cell Myeloma	MMSET, identified by its fusion to the IgH locus in t(4;14) MM, is universally overexpressed in t(4;14) MM.							SLAMF7	positive regulation	Western blot and flow cytometry analysis indicated SLAMF7 was over-expressed in t(4;14) MM cell lines and down-regulated by MMSET shRNAs.
23566000	WHSC1	overexpression	Ovarian Serous Adenocarcinoma	The high expression of MMSET was observed in 49.2% (65/132) in patients with serous ovarian carcinoma.									
22972034	WHSC1	overexpression (mutation)	Plasma Cell Myeloma	Overexpression of the histone methyltransferase MMSET (WHSC1/NSD2), due to t(4;14) chromosomal translocation, promotes the proliferation of MM cells along with global changes in chromatin; nevertheless, the precise mechanisms by which MMSET stimulates neoplasia remain incompletely understood.							c-MYC	positive regulation	We found that MMSET enhances the proliferation of MM cells by stimulating the expression of c-MYC at the post-transcriptional level.
22886632	WHSC1	overexpression	Endometrial Carcinoma	MMSET immunoreactivity was overexpressed in endometrial cancer compared with normal endometrium (P<0.001).									
22751105	WHSC1	overexpression (mutation)	Plasma Cell Myeloma	The histone methyltransferase WHSC1 (also known as MMSET) is overexpressed in multiple myeloma (MM) as a result of the t(4;14) chromosomal translocation and in a broad variety of other cancers by unclear mechanisms.									
22751102	WHSC1	overexpression (mutation)	Plasma Cell Myeloma	In this issue of JCI, Chu et al. find that ACA11, an orphan snoRNA encoded in an intron of the WHSC1 gene, is aberrantly overexpressed in t(4;14)-positive patients with multiple myeloma (MM), in which it influences growth of MM cells, resistance to chemotherapy, and oxidative stress.									
22645312	WHSC1	overexpression	Prostate Carcinoma	Importantly, NSD2 is overexpressed in prostate cancer tumors, and its overexpression correlates with NF-κB activation.				NF-κB	positive correlation	Importantly, NSD2 is overexpressed in prostate cancer tumors, and its overexpression correlates with NF-κB activation.			
22160056	WHSC1	mutation	Plasma Cell Myeloma	From a clinical standpoint, it is critical to identify MM patients carrying the t(4;14) translocation, which is present in 15% of myelomas and is associated with dysregulation of WHSC1/MMSET and often FGFR3.									
22099308	WHSC1	overexpression (mutation)	Plasma Cell Myeloma	The histone lysine methyltransferase NSD2 (MMSET/WHSC1) is implicated in diverse diseases and commonly overexpressed in multiple myeloma due to a recurrent t(4;14) chromosomal translocation.									
22028615	WHSC1	overexpression	Bladder Carcinoma; Lung Carcinoma	Immunohistochemical analysis using a number of clinical tissues confirmed significant up-regulation of WHSC1 expression in bladder and lung cancer cells at the protein level.									
21923064	WHSC1	mutation	Plasma Cell Myeloma	Nearly half of tumors are non-hyperdiploid (NH-MM), and mostly have one of five recurrent IgH translocations: 11ql13 (CCND1), 6p21 (CCND3), 16q23 (MAF), 20q12 (MAFB), and 4p16 (FGFR3 and MMSET).									
21527557	WHSC1	overexpression	Neuroblastoma	We have carried out immunohistochemical staining of tissue microarrays and found that MMSET protein is frequently and highly expressed in neuroblastoma (MMSET positive in 75% of neuroblastomas, n = 164).									
21385930	WHSC1	overexpression	Digestive System Carcinoma; Small Cell Lung Carcinoma; Bladder Carcinoma; Tumor of the Female Genitals; Skin Neoplasm	Particular frequent and/or high MMSET expression was found in carcinomas of the gastrointestinal tract (stomach, colon, anal canal), small cell lung carcinoma, tumors of the urinary bladder, female genitals, and skin.									
20511669	WHSC1	overexpression	Plasma Cell Myeloma	In samples from all four patients with multiple myeloma and from two of the three with monoclonal gammopathy of undetermined significance, we identified memory B cells expressing multiple myeloma-specific oncogenes (FGFR3; IGH-MMSET; CCND1 high) dysregulated by an IGH translocation in the respective tumor plasma cells.									
19912222	WHSC1	overexpression	Plasma Cell Myeloma	Myeloma is linked to the overexpression of a histone methylatransferase (MMSET) and inactivating mutations of a histone demethylase (UTX), suggesting that the regulation of histone methylation is a potential therapeutic target.									
18156491	WHSC1	overexpression	Plasma Cell Myeloma	MMSET protein is overexpressed and highly associated with chromatin in myeloma cell lines carrying t(4;14).									
17942756	WHSC1	overexpression	Plasma Cell Myeloma	MMSET is universally overexpressed in t(4;14) MM, whereas FGFR3 expression is lost in one-third of cases.									
25071353	HDGF	overexpression	Gallbladder Carcinoma	Nuclear HDGF expression was significantly higher (77.5%) in GBC than in chronic cholelithiasis (21.5%, P < 0.001).									
16155016	WHSC1	mutation	Plasma Cell Myeloma	Nearly half of tumors are nonhyperdiploid, and mostly have one of five recurrent IgH translocations: 16% 11q13 (CCN D1), 3% 6p21 (CCN D3), 5% 16q23 (MAF), 2% 20q12 (MAFB), and 15% 4p16 (FGFR3 and MMSET).									
15543617	WHSC1	mutation	Plasma Cell Myeloma; Plasma Cell Leukemia	We investigated the expression profiles of the FGFR3/MMSET, CCND1, CCND3, MAF, and MAFB genes, which are involved in t(4;14)(p16.3;q32), t(11;14)(q13;q32), t(6;14)(p21;q32), t(14;16)(q32;q23), and t(14;20)(q32;q12), respectively, in purified plasma cell populations from 39 MMs and six plasma cell leukemias (PCL) by DNA microarray analysis and compared the results with the presence of translocations as assessed by dual-color FISH or RT-PCR.									
15198734	WHSC1	mutation	Plasma Cell Myeloma	18% of newly diagnosed multiple myeloma (MM) cases, results in FGFR3 activation and creation of an IGH/MMSET fusion transcript.				TACC3; p21	positive correlation	TACC3, MMSET and p21 values were positively correlated in all cases and, of particular interest, six patient samples [three t(4;14)(-), three t(4;14)(+)] samples showed a joint up-regulation of TACC3, MMSET and p21.			
14531906	WHSC1	mutation	Plasma Cell Myeloma	FGFR3/IGH-MMSET was only observed among CD56+ MM patients, whereas an increased frequency of C-MAF dysregulation was seen among CD56- MM.									
12846810	WHSC1	mutation	Plasma Cell Myeloma	Nearly 40% of MM tumors have immunoglobulin H (IgH) translocations involving four recurrent chromosomal loci (oncogenes): 11q13 (cyclin D1), 6p21 (cyclin D3), 4p16 (MMSET and FGFR3), and 16q23 (c-maf).									
12433679	WHSC1	mutation	Plasma Cell Myeloma	Previous studies have revealed that that approximately 10% to 15% of multiple myelomas (MMs) are characterized by a reciprocal t(4;14)(p16;q32) translocation that activates expression of FGFR3 and creates an IGH/MMSET fusion transcript.									
27295551	HDAC4	overexpression	Esophageal Squamous Cell Carcinoma	We found that HDAC4 mRNA and protein are overexpressed in esophageal squamous cell carcinoma (ESCC) tissues and cell lines.							VIM; CTNNA1	positive regulation; negative regulation	Furthermore, HDAC4 positively regulates epithelial-mesenchymal transition (EMT) by increasing the expression of Vimentin and decreasing the expression of E-Cadherin/α-Catenin.
26843521	HDAC4	SNP	Thyroid Gland Carcinoma	In addition, the meta-analyses between literature and GWAS revealed 10 more SNPs within 9q22, six within FTO, two within SOD1, and single variations within HUS1, WDR3, UGT2B7, ALOX12, TICAM1, ATG16L1, HDAC4, PIK3CA, SULF1, IL11RA, VEGFA, and 1p31.3, 2q35, 8p12, and 14q13.									
26433312	HDAC4	overexpression	Plasma Cell Myeloma	Gene expression profiling indicated that multiple targets of the decreased miRNAs found increased expression in MM plasma cells, including ATF2, HRAS, HDAC4, TGFB1, TGFBR1, and mitogen-activated protein kinases.									
24896240	HDAC4	overexpression	Gastric Carcinoma	HDAC4 was up-regulated in gastric cancer tissues and several gastric cancer cell lines.									
23948281	HDAC4	overexpression	T Acute Lymphoblastic Leukemia	Particularly, high HDAC4 expression was associated with high initial leukocyte count, T cell ALL and prednisone poor-response.									
23873102	HDAC4	overexpression	Papillary Carcinoma; Malignant Thyroid Lesion	Enhanced HDAC-2, HDAC-4, and HDAC-6 expression was significantly more frequently observed in cases with papillary carcinoma compared to hyperplastic nodules (p=0.0065, p=0.0394, and p=0.0061, respectively). In malignant thyroid lesions, HDAC-1, HDAC-4, and HDAC-6 expression was significantly associated with tumor size (p=0.0169, p=0.0056, and p=0.0234, respectively); HDAC-2 expression with lymphatic and vascular invasion (p=0.0299 and p=0.0391, respectively); and HDAC-4 expression with capsular invasion (p=0.0464).									
25071353	HDGF	overexpression	Glioma	HDGF is overexpressed in gliomas as compared to normal brain.									
22270866	HDAC4	overexpression	Colorectal Adenocarcinoma	The immunohistochemical staining of HDACs, including HDAC1, HDAC2, HDAC3, and HDAC4, was significantly increased in colorectal adenocarcinoma specimens compared to healthy control tissues.									
21507255	HDAC4	overexpression	Bladder Carcinoma	The results of our immunohistochemistry (IHC) staining studies further revealed a strong correlation between the over-expression of HDAC4 and increased bladder cancer occurrence (p < 0.001) as well as a marginal significance of increasing incidence of HDAC4 positivity seen with an increase in severity of bladder cancer (p = 0.08).									
20842113	HDAC4	overexpression	Hepatocellular Carcinoma	Furthermore, HDAC4 was upregulated in miR-22-downregulated HCC tissues, suggesting that downregulation of miR-22 might participate in HCC carcinogenesis and progression through potentiation of HDAC4 expression.									
25189356	SETD7	mutation	Prostate Carcinoma	From this genome-wide approach, mutations were found in a series of genes with prostate cancer relevance, including AR, NCOR1, KDM3A, KDM4A, CHD1, SETD5, SETD7, INPP4B, RASGRP3, RASA1, TP53BP1, and CDH1, and a novel SND1:BRAF gene fusion.									
20041488	HDAC4	overexpression	Chordoma	These targets included Met and HDAC4-two genes that were observed to be overexpressed in chordoma.									
17363583	HDAC4	mutation; copy number loss	Melanoma	HDs were also common for PTPRD (n = 7) and HDAC4 (n = 3), TSGs recently found to be mutated or deleted in other cancer types.									
25189356	SND1	mutation	Prostate Carcinoma	From this genome-wide approach, mutations were found in a series of genes with prostate cancer relevance, including AR, NCOR1, KDM3A, KDM4A, CHD1, SETD5, SETD7, INPP4B, RASGRP3, RASA1, TP53BP1, and CDH1, and a novel SND1:BRAF gene fusion.									
27692835	HDGF	overexpression	Prostate Carcinoma	Here, we show that HDGF is overexpressed in both androgen-sensitive LNCaP cells and androgen-insensitive DU145, 22RV1, and PC-3 cells.							phospho-AKT; NF-kB	regulation	Western blot analysis also showed that HDGF overexpression modulated the activity of phospho-AKT as well as NF-kB, and these results correlated with in vitro migration and invasion assays.
26316779	HDGF	overexpression	Ovarian Carcinoma	Higher HDGF expression rate was 52.76% in EOC.									
26296979	HDGF	aberrant expression	Colorectal Carcinoma	Significant positive correlation between HDGF expression and β-catenin abnormal expression was found in CRC tissues.				CTNNB1	positive correlation	HDGF knock-down dramatically suppressed β-catenin and its down-stream genes expression in CRC cells. Intriguingly, β-catenin knock-down dramatically suppressed HDGF expression in CRC cells.			
26081074	HDGF	overexpression	Cholangiocarcinoma	Our previous study demonstrated that high expression levels of HDGF in hilar cholangiocarcinoma tissues correlates with tumor progression and patient outcome.									
25938538	HDGF	overexpression	Liver and Intrahepatic Bile Duct Carcinoma	Hepatoma-derived growth factor (HDGF) overexpression is involved in liver fibrosis and carcinogenesis.									
25421244	HDGF	overexpression	Cervical Adenocarcinoma	The expression of HDGF was significantly increased compared with adjacent non-tumor tissue samples (p < 0.001).									
25262276	HDGF	aberrant expression	Hepatocellular Carcinoma	As a result, we found that HDGF-positive expression rate in IHCC was 51.8% (43/83) in IHCC.									
25370573	ARID2	mutation	Lung Carcinoma	Specifically, the mutant-typing of 6 BAF genes, SMARCA4, ARID2, ARID1B, BCL11A, BCL11B and BRD9 was associated with more overall mutations in the lung carcinoma samples									
25370573	ARID1B	mutation	Lung Carcinoma	Specifically, the mutant-typing of 6 BAF genes, SMARCA4, ARID2, ARID1B, BCL11A, BCL11B and BRD9 was associated with more overall mutations in the lung carcinoma samples.									
24770635	HDGF	overexpression	Non-Small Cell Lung Carcinoma	HDGF and ADAM9 were observed highly expressed in NSCLC compared with normal control lung tissues (P < 0.05).				ADAM9	positive correlation	Pearson's correlation analysis revealed that ADAM9 expression was correlated positively and significantly with HDGF expression in 63 cases of stage I NSCLC (r = 0.547, P = 0.000).			
24072730	HDGF	overexpression	Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor	Kaplan-Meier curves were applied to estimate overall survival, log-rank test was used to assess prognostic relevance of p53 expression with overall survival and Cox regression model was performed to evaluate HRs. p53 expression and high HDGF expression was found in 17 (15.7%) and 55 (50.9%) patients, respectively.				p53	positive correlation	A significant positive correlation was found between p53 expression and HDGF expression in EFT (p=0.022).			
23999841	HDGF	aberrant expression	Squamous Cell Carcinoma of the Penis	HDGF, VEGF-A, and Ki-67 were positively expressed in 28 (51.9%), 29 (53.7%), and 26 (48.1%) patients, respectively.									
23878072	HDGF	overexpression	Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor	Our results showed that HDGF expression is up-regulated in Ewing's sarcoma.									
23793608	HDGF	overexpression	Cholangiocarcinoma	Positive expression of HDGF was detected in 30 (46.2 %) patients with EHCC and correlated with poor tumor differentiation (P = 0.024).									
23609195	HDGF	overexpression	Gallbladder Carcinoma	In this study, we focused on the clinical significance and biological functions of HDGF in GBC and found that Nuclear HDGF protein overexpression was frequently detected in GBC tissues.									
23536873	HDGF	overexpression	Melanoma	In this study, human melanoma cell lines (A375, A2058, MEL-RM and MM200) showed higher levels of HDGF gene expression, whereas human epidermal melanocytes (HEMn) expressed less.									
22576797	HDGF	overexpression	Glioma	We previously found that HDGF is overexpressed in glioma tissues and that its expression level may correlate with the clinical pathological grade.									
22361040	HDGF	overexpression	Lip and Oral Cavity Carcinoma	HDGF expression was higher in malignant oral cancer cells than benign ones.									
22331796	HDGF	overexpression	Glioblastoma	Western blot analysis confirmed HDGF overexpression in GSCs as well as its presence in GSC-conditioned medium, while, in contrast, no HDGF was detected in NSC secretome.									
22247069	HDGF	overexpression	Breast Carcinoma	Immunoblot and immunohistochemical studies revealed elevated HDGF expression in human breast cancer cell lines and tissues.									
22006999	HDGF	overexpression	Gastric Carcinoma; Breast Carcinoma; Lung Carcinoma	Interestingly, we found that HDGF was overexpressed also in primary gastric, breast, and lung cancer tissues harboring mutant p53 genes.				p53	correlation	Endogenous HDGF expression was decreased in cancer cells with introduction of wild-type p53, which also downregulated HDGF expression after DNA damage. Interestingly, we found that HDGF was overexpressed also in primary gastric, breast, and lung cancer tissues harboring mutant p53 genes.			
21426662	HDGF	overexpression	Non-Small Cell Lung Carcinoma	HDGF was found significantly highly expressed in 158 NSCLC tissues compared with normal control lung tissues (P < 0.001).									
21255068	HDGF	overexpression	Nasopharyngeal Carcinoma	Overexpressed mRNA and HDGF protein was present in NPC.									
20848225	HDGF	aberrant expression	Hilar Cholangiocarcinoma	HDGF and VEGF were positively expressed in 27 (46.6%) and 42 (72.4%) patients, respectively.									
20846397	HDGF	overexpression	Hepatocellular Carcinoma	Protein expression level of HDGF was markedly higher in HCC tissues than that in the normal liver tissues(P = 0.011).									
20193688	HDGF	overexpression	Lung Carcinoma	The HDGF average level in serum samples from lung cancer patients is significantly elevated relative to that from healthy controls, 9.43+/-6.13 ng/ml versus 4.36+/-2.50 ng/ml (p=1.12E-10).									
19435872	HDGF	overexpression	Lung Carcinoma	Hepatoma-derived growth factor (HDGF) is overexpressed in lung cancer and the overexpression correlates with aggressive biological behaviors and poor clinical outcomes.									
19279430	HDGF	aberrant expression	Colorectal Gastrointestinal Stromal Tumor	HDGF immunostaining was found in the nucleus (20-95 percent) as well as in the cytoplasm (weak: 16; intermediate: 17; strong: 19). Upregulation of nuclear HDGF levels existed in increased cytoplasmic HDGF levels (P < 0.001).									
19214667	HDGF	overexpression	Hepatocellular Carcinoma	Hepatoma-derived growth factor (HDGF) is a unique nuclear targeting growth factor that is highly expressed in HCC cells and is a possible prognostic factor for patients with HCC.									
18478933	HDGF	overexpression	Non-Small Cell Lung Carcinoma	HDGF expression was observed in all cases, and significantly higher than that in normal lung tissues (52.23 +/- 10.35 vs. 156.73 +/- 70.95, P < 0.01).									
21122296	HDGF	overexpression	Non-Small Cell Lung Carcinoma	HDGF positively staining was seen in all patients, and remarkably higher than that in normal lung tissues (52.23±10.35 vs 156.73±70.95, P < 0.01).									
16397032	HDGF	overexpression	Gastric Carcinoma	Samples with >90% of tumor cells to express positive immunoreactivity similar to or stronger than that in endothelial cells both for nucleus and cytoplasm were regarded as HDGF index level 2, and others as HDGF index level 1.									
15604097	HDGF	overexpression	Colorectal Carcinoma	HDGF expression is dramatically increased in human colorectal cancers, especially in tumors proficient in DNA mismatch repair, and thus represents a novel marker for a distinctive tumor subtype.									
14583466	HDGF	overexpression	Melanoma	In contrast, Western analysis of HDGF demonstrated increased expression of all forms in melanoma cell lines compared with melanocytes.									
14535987	HDGF	overexpression	Hepatocellular Carcinoma	Using immunohistochemistry with the specific anti-HDGF antibody, HDGF was more strongly and frequently expressed in the nucleus and cytoplasm of HCC cells than in the adjacent normal hepatocytes.									
14508832	HDGF	overexpression	Hepatocellular Carcinoma	RT-PCR and Western blot analysis detected increased HDGF expression in malignant hepatoma cell lines.									
27651430	KAT5	underexpression	Breast Carcinoma	In pathophysiological scenario, we find TIP60 to be significantly downregulated in breast cancer patients with poor overall survival and disease-free survival prognoses.									
26915295	KAT5	underexpression	Breast Carcinoma	In human breast cancer data sets, Tip60 mRNA is downregulated, with low Tip60 levels correlating with p53 mutations in basal-like breast cancers.									
26780987	KAT5	overexpression	Pleural Malignant Mesothelioma	When separated according to histological subtype, KAT5 was significantly overexpressed in both the sarcomatoid and biphasic subgroups for all transcript variants.									
26464124	KAT5	underexpression	Lymphoma; Melanoma; Breast Carcinoma; Colon Carcinoma; Lung Carcinoma	Lower expression of Tip60 is observed in lymphomas, melanomas, breast, colon, and lung cancer.									
26234678	KAT5	underexpression	Cervical Carcinoma	TIP60 protein expression is reduced in cancers.									
25370573	SMARCA4	mutation	Lung Carcinoma	SMARCA4, the most frequently mutated BAF gene in lung cancer, was stably knocked down by pSUPER constructs carrying short hairpin RNA (shRNA).									
24427328	KAT5	overexpression	Gallbladder Carcinoma	The mRNA expression level of KAT5 was significantly upregulated in GBC tissues than in the adjacent normal tissues.									
23624367	KAT5	loss of expression	Melanoma	Here, we show that human melanoma patient samples and cell lines maintain p53 expression but PIASy and/or Tip60 are frequently lost.									
23056207	KAT5	underexpression	Prostate Carcinoma	In prostate cancer, aggressive cases over-express Tip60 which functions as an androgen receptor co-activator via direct acetylation of lysine residues within the KLKK motif of the receptor hinge region.									
22673729	KAT5	aberrant expression	Metastatic Melanoma	Kaplan-Meier survival curve and univariate Cox regression analyses showed that reduced Tip60 expression was associated with a poorer 5-year disease-specific survival in primary melanoma (P=0.016) and metastatic melanoma patients (P=0.027).									
22110127	KAT5	underexpression	Acute Myeloid Leukemia	Tip60 expression was significantly (60%) lower in the AML samples.									
21273583	KAT5	underexpression	Gastric Carcinoma	A down-regulation of the TIP60 gene was observed in 28 out of 46 (61%) specimens of primary gastric cancer.									
19846935	KAT5	underexpression	Colorectal Carcinoma	A down-regulation of the Tip60 gene was observed 5 out of 38 (13%) specimens of primary colorectal cancer.									
17728759	KAT5	loss of expression	Breast Carcinoma	Immunohistochemical analysis also demonstrated loss of nuclear TIP60 staining in mammary carcinomas.									
25412851	ASXL1	mutation	Acute Myeloid Leukemia	We assessed the frequency and clinicopathologic significance of 19 genes currently identified as significantly mutated in myeloid neoplasms, RUNX1, ASXL1, TET2, CEBPA, IDH1, IDH2, DNMT3A, FLT3, NPM1, TP53, NRAS, EZH2, CBL, U2AF1, SF3B1, SRSF2, JAK2, CSF3R, and SETBP1, across 93 cases of acute myeloid leukemia (AML) using capture target enrichment and next-generation sequencing.									
27707735	ASXL1	mutation	Chronic Myelomonocytic Leukemia	Exome sequencing studies in Chronic Myelomonocytic Leukemia (CMML) illustrate a mutational landscape characterized by few somatic mutations involving a subset of recurrent gene mutations in ASXL1, SRSF2, and TET2, each approaching 40% in incidence.									
25412851	SETBP1	mutation	Myeloid Neoplasm	We assessed the frequency and clinicopathologic significance of 19 genes currently identified as significantly mutated in myeloid neoplasms, RUNX1, ASXL1, TET2, CEBPA, IDH1, IDH2, DNMT3A, FLT3, NPM1, TP53, NRAS, EZH2, CBL, U2AF1, SF3B1, SRSF2, JAK2, CSF3R, and SETBP1, across 93 cases of acute myeloid leukemia (AML) using capture target enrichment and next-generation sequencing.									
27616637	ASXL1	mutation	Myelodysplastic Syndrome	ASXL1 is frequently mutated in myelodysplastic syndrome and other hematological malignancies.							H3K27me3; PRC2	positive regulation; regulation	It has been reported that a loss of ASXL1 leads to a reduction of H3K27me3 via the polycomb repressive complex 2 (PRC2).
27470916	ASXL1	mutation	Childhood Acute Myeloid Leukemia	Furthermore, targeted deep sequencing in 182 paediatric AML patients identified three major categories of recurrently mutated genes: cohesion complex genes [STAG2, RAD21 and SMC3 in 17 patients (8·3%)], epigenetic regulators [ASXL1/ASXL2 in 17 patients (8·3%), BCOR/BCORL1 in 7 patients (3·4%)] and signalling molecules.									
27415155	ASXL1	mutation	Myelodysplastic Syndrome	Moreover, we detected 2 novel genomic mutations in 2 known leukemogenic genes, IKZF1 and ASXL1.									
25466466	BRD3	mutation	Pulmonary NUT Midline Carcinoma	In more than two-thirds of NMC cases, a gene fusion between NUT and BRD4 or BRD3 has been documented; other fusions are rare.				NUT	Fusion	In more than two-thirds of NMC cases, a gene fusion between NUT and BRD4 or BRD3 has been documented; other fusions are rare.			
27352931	ASXL1	mutation	Myeloid Neoplasm	ASXL1 mutations are found in a spectrum of myeloid malignancies with poor prognosis.									
27282351	ASXL1	altered expression	Pancreatic Intraductal Papillary Mucinous Neoplasm, Oncocytic-Type	ARHGAP26, ASXL1, EPHA8, and ERBB4 genes were somatically altered in more than one of these typical 'oncocytic subtype' of intraductal papillary mucinous neoplasms but not in the other two atypical ones.									
27185207	ASXL1	mutation	Chronic Myelomonocytic Leukemia	Mutations involving TET2 (60%), SRSF2 (50%), ASXL1 (40%), and RAS (30%) are frequent; with only ASXL1 mutations negatively impacting overall survival.									
25466466	WHSC1L1	mutation	NUT Midline Carcinoma	Fluorescence in situ hybridization confirmed the NSD3-NUT gene rearrangement, whereas a BRD3/4-NUT fusion gene was not detected.				NUT	Fusion	Fluorescence in situ hybridization confirmed the NSD3-NUT gene rearrangement, whereas a BRD3/4-NUT fusion gene was not detected.			
25496315	PBRM1	loss of expression (mutation)	Rhabdoid Tumor of the Kidney	Complete loss of SMARCB1, SMARCA2 and PBRM1 expression and corresponding mutations in the same genes were observed in all cases.									
26848006	ASXL1	mutation	Chronic Myelomonocytic Leukemia	Gene mutations involving TET2 (60%), SRSF2 (50%), ASXL1 (40%), and RAS (30%) are frequent, with nonsense and frameshift ASXL1 mutations being the only mutations identified thus far to have an independent negative prognostic effect on overall survival.									
25496315	SMARCA4	mutation	Rhabdoid Tumor of the Kidney	We report, for the first time, co-inactivation and frequent mutations of SMARCB1, SMARCA2 and PBRM1 in MRTs.									
26700326	ASXL1	mutation	Myeloid Neoplasm	Among the mutations, ASXL1 mutations attract much attention; the ASXL1 mutations are identified in a variety of hematologic malignancies and always predicts poor prognosis.									
25575036	ASXL1	mutation	Chronic Neutrophilic Leukemia	Furthermore, the majority of the patients with CSF3R-mutated CNL also expressed other mutations, such as SETBP1 and ASXL1, which might be prognostically detrimental.									
26637707	ASXL1	mutation	Mastocytosis	These lesions include, among others, somatic mutations in TET2, SRSF2, ASXL1, CBL, RUNX1, and RAS.									
26464169	ASXL1	mutation	Systemic Mastocytosis	The most frequently identified mutated genes were TET2 (n=33 of 70 patients), SRSF2 (n=30), ASXL1 (n=20), RUNX1 (n=16) and JAK2 (n=11).									
26122388	ASXL1	mutation	Chronic Myelomonocytic Leukemia	Gene mutations in ten-eleven translocation (TET) oncogene family member 2 (TET2) (60%), SRSF2 (50%), ASXL1 (40%), and RAS (20-30%) are frequent, with only frame shift and nonsense ASXL1 mutations negatively impacting overall survival.									
26118500	ASXL1	mutation	Acute Myeloid Leukemia	In addition, mutations in epigenetic regulators such as DNMT3A, TET2, and ASXL1 have recently beenfound to be the earliest known events during AML evolution and to be present as preleukemic lesions before the onset of AML.									
26095772	ASXL1	mutation	Myeloid Leukemia	Heterozygous mutations of ASXL1 that result in premature truncations are frequent in myeloid leukemias and Bohring-Opitz syndrome.									
26082670	ASXL1	mutation	Ph Negative Myeloproliferative Neoplasm	A total of 29 ASXL1 mutations were detected in 24.7% of PMF and 8.4% of ET patients.									
25575036	SETBP1	mutation	Chronic Neutrophilic Leukemia	Furthermore, the majority of the patients with CSF3R-mutated CNL also expressed other mutations, such as SETBP1 and ASXL1, which might be prognostically detrimental.									
25921057	ASXL1	mutation	Myeloid Neoplasm	Somatic mutations in ASXL1 are associated with myeloid malignancies, and these reports emphasize the need for Wilms tumor screening in patients with ASXL1 mutations.									
25636086	ARID2	mutation	Liver Cancer Displaying Biliary Phenotype	The subsequent validation study on 68 LCBs identified recurrent mutations in TERT promoter, chromatin regulators (BAP1, PBRM1 and ARID2), a synapse organization gene (PCLO), IDH genes and KRAS									
25835095	ASXL1	copy number gain	Cervical Carcinoma	Copy number gains of ASXL1 occur in chromosome 20q11.2 duplication syndrome and cervical cancer.									
25696868	ASXL1	mutation	Myeloproliferative Neoplasm	Other mutations in several epigenetic modifiers, such as ASXL1, DNMT3a, TET2, EZH2, IDH1, and IDH2, as well as in genes involved in mRNA splicing, such as SF3B1 and U2AF2, have also been described in recent years in patients with MPNs, and evidence is emerging as to how these may be contributing to disease biology.									
25636086	PBRM1	mutation	Liver and Intrahepatic Bile Duct Carcinoma	The subsequent validation study on 68 LCBs identified recurrent mutations in TERT promoter, chromatin regulators (BAP1, PBRM1 and ARID2), a synapse organization gene (PCLO), IDH genes and KRAS.									
25482724	ASXL1	mutation	T Acute Lymphoblastic Leukemia	Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n = 2; 4%)], chromatin remodeling [SMARCA4 (n = 2; 4%)], and DNA methylation [DNMT3A (n = 3; 7%), TET2 (n = 2; 4%), WT1 (n = 2; 4%)] pathways were recurrently mutated in TCs, but not in thymomas.									
25426838	ASXL1	mutation	Hematopoietic and Lymphoid Cell Neoplasm	Detectable clonal expansions most frequently involved somatic mutations in three genes (DNMT3A, ASXL1, and TET2) that have previously been implicated in hematologic cancers.									
25839328	CBX4	copy number gain	Esophageal Squamous Cell Carcinoma	In the samples analyzed by WGS, we identified focal (<100 kb) amplifications of CBX4 and CBX8.									
25326804	ASXL1	mutation	Leukemia	Remarkably, 83% of these mutations were from 19 leukemia and/or lymphoma-associated genes, and nine were recurrently mutated (DNMT3A, TET2, JAK2, ASXL1, TP53, GNAS, PPM1D, BCORL1 and SF3B1).									
25306901	ASXL1	mutation	Myelodysplastic Syndrome	Mutations in ASXL1 are frequent in patients with myelodysplastic syndrome (MDS) and are associated with adverse survival, yet the molecular pathogenesis of ASXL1 mutations (ASXL1-MT) is not fully understood.				SETBP1	association	Here, we find that SET-binding protein 1 (SETBP1) mutations (SETBP1-MT) are enriched among ASXL1-mutated MDS patients and associated with increased incidence of leukemic transformation, as well as shorter survival, suggesting that SETBP1-MT play a critical role in leukemic transformation of MDS.			
25130853	ASXL1	genetic alteration	Myeloid Neoplasm	Recently, alterations of ASXL1 gene were identified in the hematopoietic cells from patients with a variety of myeloid malignancies, including chronic myelomonocytic leukemia (CMML, 43% of cases), myelodysplastic syndrome (MDS, 20%), myeloproliferative neoplasms (MPN, 10%) and acute myeloid leukemia (AML, 20%).									
25839328	CBX8	copy number gain	Esophageal Squamous Cell Carcinoma	In the samples analyzed by WGS, we identified focal (<100 kb) amplifications of CBX4 and CBX8.									
25000259	ASXL1	mutation	Acute Myeloid Leukemia	Mutations in known tumor suppressors DNMT3A (p.G728D) and ASXL1 (p.E657fs), consistent with mutations of known consequence in acute myeloid leukemia, were identified.									
24923295	ASXL1	mutation	Acute Myeloid Leukemia	Recurring mutations were detected in ASXL1 (44%) and BCOR (25%).									
24859829	ASXL1	mutation	Acute Myeloid Leukemia	We found that 16.1 % of patients had TET2 mutations, 31.6 % had FLT3 internal tandem duplications (ITDs), 6.2 % had FLT3 tyrosine kinase domain mutations, 2.4 % had c-KIT mutations, 37.8 % had NPM1 mutations, 11.3 % had WT1 mutations, 5.9 % had RUNX1 mutations, 11.5 % had ASXL1 mutations, 3.8 % had MLL-PTDs, 7.8 % had IDH1 mutations, 7.8 % had NRAS mutations, 12.3 % had IDH2 mutations, 1.6 % had EZH2 mutations, and 14.7 % had DNMT3A mutations, while none had CBL mutations.									
24726781	ASXL1	genetic aberration	Acute Myeloid Leukemia	However, a widespread genomic analysis has recently shown the recurrence of genomic aberrations in this category (mutations of FLT3, CEBPA, NPM1, RUNX1, TET2, IDH1/2, DNMT3A, ASXL1, MLL and WT1) thus revealing its marked genomic heterogeneity.									
24609756	ASXL1	genetic aberration	Acute Myeloid Leukemia	Several new recurrent genetic molecular abnormalities have recently been identified, including TET2, ASXL1, IDH1, IDH2, DNMT3A, and PHF6.									
24507815	ASXL1	mutation	Chronic Myelomonocytic Leukemia	Recurrent gene mutations affect mainly the TET2, SRSF2, and ASXL1 genes.									
24467717	ASXL1	mutation	Chronic Myelomonocytic Leukemia	Numerous prognostic models exist for CMML, with more recent models incorporating prognostic mutations, such as those involving ASXL1.									
25850813	ASXL1	mutation	Chronic Neutrophilic Leukemia	Fourteen patients with CSF3R-mutated CNL (median age 67 years; 57% males) were screened for additional mutations; 8 (57%) and 5 (38%) harbored an ASXL1 and/or SETBP1 mutation (two patients expressed both), respectively.									
25850813	SETBP1	mutation	Chronic Neutrophilic Leukemia	Fourteen patients with CSF3R-mutated CNL (median age 67 years; 57% males) were screened for additional mutations; 8 (57%) and 5 (38%) harbored an ASXL1 and/or SETBP1 mutation (two patients expressed both), respectively.									
24220272	ASXL1	mutation	Myelodysplastic Syndrome	Forty-seven genes were significantly mutated with TET2, SF3B1, ASXL1, SRSF2, DNMT3A, and RUNX1 mutated in >10% of cases.									
24218140	ASXL1	mutation	Myelodysplastic Syndrome	Somatic Addition of Sex Combs Like 1 (ASXL1) mutations occur in 10-30% of patients with myeloid malignancies, most commonly in myelodysplastic syndromes (MDSs), and are associated with adverse outcome.				Tet2	co-mutation	Asxl1 deletion reduces hematopoietic stem cell self-renewal, which is restored by concomitant deletion of Tet2, a gene commonly co-mutated with ASXL1 in MDS patients.			
24202323	ASXL1	mutation	Myelodysplastic Syndrome	Genes implicated in epigenetic control, like DNMT3A, ASXL1, EZH2 and TET2, have been discovered to be mutated in MDS.									
24189654	ASXL1	mutation	Acute Myeloid Leukemia	In the same samples, the assay also identified actionable point mutations in genes not previously analyzed and novel gene rearrangements of MLL and GRIK4 in melanoma, and of ASXL1, PIK3R1, and SGCZ in acute myeloid leukemia.									
24164563	ASXL1	mutation	Chronic Myelomonocytic Leukemia	In 89% of cases, at least one mutation could be detected: ASXL1: n=18 (50%); CBL: n=7 (19%); TET2: n=15 (42%); and NRAS: n=11 (32%).									
25941598	EED	overexpression	Cutaneous T-Cell Non-Hodgkin Lymphoma	Furthermore, select ESC genes (OCT4, EED, TCF3, THAP11, CHD7, TIP60, TRIM28) are preferentially expressed in CTCL samples when compared to benign skin biopsies.									
23952244	ASXL1	mutation	Acute Myeloid Leukemia	ASXL1 mutations are recurrent in acute myeloid leukemia (AML), but it is unclear whether ASXL1 genotype might influence patient management.									
23760684	ASXL1	mutation	Acute Myeloid Leukemia	The development of novel technologies, such as massively parallel DNA sequencing, has led to the identification of several novel recurrent gene mutations, such as DNA methyltransferase (Dnmt)3a, ten-eleven-translocation oncogene family member 2 (TET2), isocitrate dehydrogenase (IDH)1/2, additional sex comb-like 1 (ASXL1), enhancer of zeste homolog 2 (EZH2) and ubiquitously transcribed tetratricopeptide repeat X chromosome (UTX) mutations in acute myeloid leukemia (AML) and other myeloid malignancies.									
23736028	ASXL1	mutation	Myeloid Neoplasm; Chronic Lymphocytic Leukemia; Head and Neck Squamous Cell Carcinoma; Liver Carcinoma; Prostate Carcinoma; Breast Carcinoma	Truncation mutations of ASXL1 occur in colorectal cancers with microsatellite instability (MSI), malignant myeloid diseases, rochronic lymphocytic leukaemia, head and neck squamous cell carcinoma, and liver, prostate and breast cancers; those of ASXL2 occur in prostate cancer, pancreatic cancer and breast cancer and those of ASXL3 are observed in melanoma.									
23645565	ASXL1	mutation	Acute Myeloid Leukemia; Myelodysplastic Syndrome	Over the past few years, large-scale genomic studies of patients with myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) have unveiled recurrent somatic mutations in genes involved in epigenetic regulation (DNMT3A, IDH1/2, TET2, ASXL1, EZH2 and MLL) and the spliceosomal machinery (SF3B1, U2AF1, SRSF2, ZRSR2, SF3A1, PRPF40B, U2AF2, and SF1).									
23640996	ASXL1	mutation (loss of function)	Acute Myeloid Leukemia	In particular, we focus on the role of loss-of-function mutations in TET2, gain-of-function mutations in IDH1 and IDH2, and loss-of-function mutations in ASXL1 and mutations of unclear impact in DNMT3A in AML pathogenesis and therapy.									
25941598	TRIM28	overexpression	Cutaneous T-Cell Non-Hodgkin Lymphoma	Furthermore, select ESC genes (OCT4, EED, TCF3, THAP11, CHD7, TIP60, TRIM28) are preferentially expressed in CTCL samples when compared to benign skin biopsies.									
23521373	ASXL1	mutation	Acute Myeloid Leukemia	TET2 was found to be most frequently mutated (34·0%) gene, followed by GATA2 (21·0%), WT1 (13·7%), DNMT3A (9·6%), ASXL1 (9·5%), NRAS (8·4%), KRAS (3·2%), IDH1/2 (6·3%), FLT3-internal tandem duplication (6·3%), FLT3-tyrosine kinase domain (2·1%), NPM1 (2·1%), and RUNX1 (1/94).									
25941598	KAT5	overexpression	Cutaneous T-Cell Non-Hodgkin Lymphoma	Furthermore, select ESC genes (OCT4, EED, TCF3, THAP11, CHD7, TIP60, TRIM28) are preferentially expressed in CTCL samples when compared to benign skin biopsies.									
23099237	ASXL1	mutation	Myelodysplastic Syndrome	TET2 mutations were detected in 35 patients (23%), ASXL1 in 33 patients (22%) and EZH2 in 8 (5%).									
23065512	ASXL1	mutation	Chronic Myelomonocytic Leukemia	We found that myelodysplastic chronic myelomonocytic leukemias are characterized by mutations in transcription/epigenetic regulators (ASXL1, RUNX1, TET2) and splicing genes (SRSF2) and the absence of mutations in signaling genes.									
23049405	ASXL1	mutation	Myeloid Neoplasm	In addition to the JAK2 mutation, other mutations involving TET2 (ten-eleven translocation), LNK (a membrane-bound adaptor protein); IDH1/2 (isocitrate dehydrogenase 1/2 enzyme); ASXL1 (additional sex combs-like 1) genes were found in myeloproliferative neoplasms thus showing the importance of identifying molecular genetic alterations to confirm diagnosis, guide treatment and improve our understanding of the biology of these diseases.									
23023734	ASXL1	mutation	Myeloproliferative Neoplasm	Several additional novel mutations in genes involved in epigenetic regulation of the genome, including TET2, ASXL1, DNMT3A, and IDH1/2, have emerged, in addition to several mutations in cellular splicing machinery.									
23018865	ASXL1	mutation	Acute Myeloid Leukemia	ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome.									
23015417	ASXL1	mutation	Myeloid Neoplasm	Genes such as ASXL1, DNMT3A, EZH2, IDH1/2, MLL1, and TET2 all have been shown to be mutated and/or translocated in patients with myeloid malignancies.									
23009937	ASXL1	copy number loss; mutation	Myeloproliferative Neoplasm	In 2009, somatic copy number loss and mutations in the genes TET2 and ASXL1 were identified in MPN patients.									
26019984	ASXL1	mutation	Chronic Myelomonocytic Leukemia	Forty-seven (32%) had a mutation in TET2, 42 (29%), a mutation in SRSF2, 65 (45%), a mutation (nonsense and frame-shift) in ASXL1 and 26 (18%), a mutation in SETBP1.									
22912701	ASXL1	mutation	Acute Myeloid Leukemia	The most frequently mutated genes in primary cases were NPM1 (60.8%) and FLT3 (50.0%), and in secondary cases ASXL1 (48.5%) and TET2 (30.3%).									
22905207	ASXL1	mutation	Mastocytosis	Mutations in TET2, DNMT3A, ASXL1 and CBL were found in 23%, 12%, 12%, and 4% of SM patients, respectively.									
22773603	ASXL1	mutation	Juvenile Myelomonocytic Leukemia	By comparison, our screening of juvenile myelomonocytic leukemia cases showed mutations in ASXL1 (4%), CBL (10%), and RAS (6%) but not in IDH1/2, TET2, EZH2, DNMT3A or the three spliceosomal genes.									
22581002	ASXL1	mutation	Acute Myeloid Leukemia	After investigating common acute leukemia-related mutations in 17 genes, 12 of 31 (39%) patients were found to have at least one mutation, classified with: IKZF1 deletion (4 of 31), and EZH2 (3 of 31), ASXL1 (3 of 31), ETV6 (2 of 31), NOTCH1 (1 of 31), and TET2 (1 of 31) mutations.									
22535592	ASXL1	mutation	Acute Myeloid Leukemia with Myelodysplasia-Related Changes	In 48 MRC-AML patients analyzed, we found 17 mutations in ASXL1 (35%), eight in RUNX1 (17%), seven in TET2 (15%), 12 in IDH (n = 2) or IDH2 (n = 10) (25%), four in DNMT3A (8%), four in NPM1 (8%), and one in FLT3 (2%).									
22489043	ASXL1	mutation	Myeloproliferative Neoplasm	We found a high incidence of ASXL1 mutation in MF patients (20%) and a low incidence in PV (7%) and ET (4%) patients.									
22436456	ASXL1	mutation	Myeloid Neoplasm	The ASXL1 gene is one of the most frequently mutated genes in malignant myeloid diseases.									
26019984	SETBP1	mutation	Chronic Myelomonocytic Leukemia	Forty-seven (32%) had a mutation in TET2, 42 (29%), a mutation in SRSF2, 65 (45%), a mutation (nonsense and frame-shift) in ASXL1 and 26 (18%), a mutation in SETBP1.									
22058207	ASXL1	mutation	Myeloid Neoplasm	Somatic mutations in the additional sex comb-like 1 (ASXL1) gene have been described in various types of myeloid malignancies, including acute myeloid leukemia.									
22040993	ASXL1	genetic aberration	Myelodysplastic Syndrome	MDS phenotypes may be caused not only by loss-of-function of ASXL1 but also by gain-of-function mutations, overexpression of this gene and so on.									
21917154	ASXL1	mutation	Acute Myeloid Leukemia	The aim of this review is to summarize the current findings for the identification of these gene mutations (Dnmt, TET2, IDH1/2, NPM1, ASXL1, etc.), most of which are frequently found in cytogenetically normal AML.									
21904853	ASXL1	mutation	Myeloproliferative Neoplasm	Mutations in the TET2 and ASXL1 genes have been described in approximately 14% and 8% of patients, respectively, with classic myeloproliferative neoplasms (MPN), but their role as possible new diagnostic molecular markers is still inconclusive.									
21576631	ASXL1	mutation	Myelodysplastic Syndrome	Mutations in ASXL1 occurred with a frequency of 20.7% in MDS (n = 40 of 193) with 70% (n = 28) of mutations being frameshift mutations and 30% (n = 12) being heterozygous point mutations leading to translational changes.									
21346257	ASXL1	mutation	Chronic Myelogenous Leukemia, BCR-ABL1 Positive	Our results indicate that CBL family, TET2, ASXL1, and IDH family mutations and additional cryptic karyotypic abnormalities can occur in advanced phase CML.									
26082485	NCOA1	overexpression	Hepatocellular Carcinoma	In this study, we report that SRC-1 was overexpressed in 25 (62.5%) of 40 human hepatocellular carcinoma (HCC) specimens.							PCNA; c-Myc	positive regulation	Knockdown of SRC-1 reduced protein levels of the proliferation marker proliferating cell nuclear antigen (PCNA) and the oncogene c-Myc.
20880116	ASXL1	mutation	Chronic Myelomonocytic Leukemia	Mutations in ASXL1 and in the genes associated with proliferation (CBL, FLT3, PTPN11, NRAS) were mainly found in MP-CMML cases.									
20410925	ASXL1	mutation	Chronic Myelogenous Leukemia, BCR-ABL1 Positive	Mutation of ASXL1 represents an important new molecular abnormality in CML.									
26082485	NCOA3	overexpression	Hepatocellular Carcinoma	In addition, SRC-1 and SRC-3 were co-overexpressed in 47.5% of HCC specimens, and they cooperated to promote HCC cell proliferation.									
19861679	ASXL1	mutation	Chronic Myelomonocytic Leukemia	A recent study of patients with myelodysplastic syndrome (MDS) and chronic myelomonocytic leukemia (CMML) revealed a high incidence of truncation mutations that would delete the PHD domain of ASXL1.									
19388938	ASXL1	mutation	Myelodysplastic Syndrome	We found mutations in the ASXL1 gene in four out of 35 MDS patients (11%).									
27377902	ATF2	overexpression	Renal Cell Carcinoma	Moreover, ATF2 was shown to be highly expressed in RCC tissues, especially in tumors with metastases.							CCNB1; CCND1; SNAI1; VIM	regulation	Mechanistic studies revealed that the transcription of CyclinB1, CyclinD1, Snail and Vimentin was directly regulated by ATF2 in RCC cells.
26870280	ATF2	overexpression	Non-Small Cell Lung Carcinoma	The results demonstrated that ATF2 was markedly overexpressed in the NSCLC cells and significantly overexpressed in the fresh NSCLC tissues compared with the control cells and samples (86 paraffin-embedded tissue sections), respectively (P<0.01).									
26645581	ATF2	overexpression	Melanoma	In contrast, increased expression of the gene encoding PKCε and abundance of phosphorylated, transcriptionally active ATF2 were observed in advanced-stage melanomas and correlated with decreased FUK expression, decreased cellular protein fucosylation, attenuated cell adhesion, and increased cell motility.							FUK; fucose salvage pathway	negative regulation; regulation	PKCε-dependent phosphorylation of ATF2 promoted its transcriptional repression of the gene encoding fucokinase (FUK), which mediates the fucose salvage pathway and thus global cellular protein fucosylation.
25961580	ATF2	overexpression	Skin Neoplasm	In a promotable skin cell model, the nuclear levels of ATF2 were increased during tumor promotion, whereas this increase was inhibited by shikonin.									
25359574	ATF2	overexpression	Non-Small Cell Lung Carcinoma	Furthermore, in NSCLC cell lines, ATF2 expression levels were evaluated and correlated to platinum (CDDP) resistance.									
24968707	ATF2	overexpression	Hepatocellular Carcinoma	In the present study, ATF2 exhibited a higher expression level in the nucleus in tumoral tissues of HCC as detected by immunohistochemistry.	miR-451	negative regulation	Further investigation of the molecular mechanisms identified activating transcription factor 2(ATF2) as a target of miR-451. miR-451 inhibited ATF2 expression by binding to the 3'UTR.						
24289970	ATF2	overexpression	Spindle Cell Sarcoma	High nuclear ATF2 expression was mainly observed in translocation-associated and/or spindle cell sarcomas including synovial sarcoma, desmoplastic small round cell tumor, endometrial stromal sarcoma, gastrointestinal stromal tumor, malignant peripheral nerve sheath tumor, and solitary fibrous tumor.									
23416976	ATF2	overexpression	B-Cell Non-Hodgkin Lymphoma	In samples of human B-cell lymphomas as well as Eμ-Myc-driven mouse B-cell lymphomas, we find that ATF2 as well as MAP kinase c-Jun N-terminal kinase (JNK) are significantly up-regulated compared with normal human B-cell lines and mouse B cells, respectively.									
18700251	ATF2	aberrant expression	Lobular Hemangioma	P-ATF2 was expressed in 13 out of 14 CAS and in all of 19 PG.									
17786276	ATF2	overexpression	Chronic Lymphocytic Leukemia	Significance analysis of microarray (SAM) identified 27 differentially expressed genes between these two subgroups with significant overexpression of ATF5 and underexpression of CDC16, PCDH8, SLAM, MNDA and ATF2 in CLL patients with poor outcome.									
15185015	ATF2	overexpression	Burkitt Lymphoma	Next, we showed by immunohistochemistry that the activated form of ATF2 (ATF-2pp) was highly expressed in six different BL samples.									
26993046	ING1	overexpression	Prostate Carcinoma	Interestingly, ING1 expression is upregulated in senescent primary human prostate cells; however, its role in AR signaling in PCa was unknown.									
24962136	ING1	underexpression	Breast Carcinoma	INhibitor of Growth 1 (ING1) expression is repressed in breast carcinomas, but its role in breast cancer development and metastasis is unknown.									
24912621	ING1	overexpression	Oral Cavity Squamous Cell Carcinoma	In contrast with previous reports, we found that p33ING1b protein and mRNA levels are higher in OSCC compared to normal epithelial cells.									
22260079	ING1	mutation	Laryngeal Squamous Cell Carcinoma	No mutation was detected in ING1 gene, but a single polymorphism from GGG to AGG at codon 170 of ING1 gene was found in 2 of the 25 LSCC tissues.									
21779982	ING1	underexpression	Non-Small Cell Lung Carcinoma	The expressions of mRNA or protein of p33ING1 and Beclin1 in NSCLC tissues were significantly lower than that in surrounding noncancerous tissues (p<0.05).				p53; BECN1	correlation	The expression of mRNA of p53 and Beclin1 were correlated with p33ING1 mRNA expression in NSCLC tissues (p<0.05).			
21432775	ING1	loss of expression	Head and Neck Squamous Cell Carcinoma	Although 12% of HNSCC cases lost expression of p33ING1b, most cases of HNSCC retained expression of p33ING1b with levels similar to those in non-cancerous epithelia.									
21286670	ING1	loss of expression	Lung Carcinoma	High LOH frequency was found in lung carcinomas (55.7%) and p33ING1b expression was lost in 115 of 217 carcinomas (53.0%).									
21254299	ING1	copy number loss	Undifferentiated High Grade Pleomorphic Sarcoma of Bone	Homozygous deletions of CDKN2A, RB1, TP53, and ING1 were seen in 8/20, 7/20, 3/20, and 2/20 cases, respectively.									
20681406	ING1	underexpression	Glioblastoma	We have previously shown that ING1 is downregulated in GBM and involved in glioma-induced angiogenesis and in cisplatin-induced apoptosis in malignant glioma cells.									
20131318	ING1	underexpression	Head and Neck Squamous Cell Carcinoma	We previously showed 3 members of inhibitor of growth (ING) family, ING1, ING3 and ING4 as tumor suppressor gene in head and neck cancer.									
20066899	ING1	underexpression	Glioblastoma	Our previous studies using tumor samples from patients have shown that ING1 levels are downregulated in glioblastoma multiforme (GBM), one of the most highly vascularized malignancies.									
18450387	ING1	overexpression	Hepatocellular Carcinoma	ING1b was up-regulated in HCC during the progression process and might contribute the alternation of general expression level of ING1.									
17763999	ING1	underexpression	Malignant Glioma	We have recently shown that the INhibitor of Growth 1 (ING1) tumor suppressor is down-regulated in malignant gliomas and that the decrease of ING1 expression correlates with histological grade of malignancy, suggesting a role for ING1 in the pathogenesis and progression of malignant gliomas.									
17488656	ING1	underexpression	Mantle Cell Lymphoma	A low expression of ING1, RUNX3 and BNIP3L was observed in three of the five the MCL cell lines.									
16273637	ING1	underexpression	Sporadic Colorectal Carcinoma	p33(ING1b) and p47(ING1a) mRNA expressions are closely related with the carcinogenesis and progression of human sporadic colorectal cancer. No mutation of ING1 gene is found, and there are only few LOH in sporadic colorectal cancers. These might not be the main reasons for the down regulation of ING1 expression. Its low expression may happen in transcription or post-transcription.									
15677627	ING1	underexpression	Ovarian Carcinoma	Real-time quantitative RT-PCR also showed overall significant reduction of p33ING1b mRNA expression (P = 0.0137), with 53.1% (17/32) cases showing 2- to 5-fold reduction and absence of expression.									
15201991	ING1	mutation	Melanoma	We show that 20% of the melanoma primaries contained missense mutations in the SAP30-interacting domain and PHD finger motif of the ING1 gene with the R102L and N260S alterations observed more than once.									
14676120	ING1	overexpression; mutation	Glioma	Interestingly, overexpression and subcellular mislocalization of p33ING1b were observed in all 29 of the brain tumor specimens and some glioma cell lines.									
12835295	ING1	underexpression	Breast Carcinoma	Reduced ING1 mRNA expression has been observed in primary breast cancer expressing wild-type p53.									
12637159	ING1	underexpression	Gastroesophageal Junction Adenocarcinoma	We conclude that reduced ING1 expression is frequently associated with AdEGJ tumorigenesis, further supporting its role as a tumor suppressor gene, and that ING1 expression is independent of p53 status.									
12632089	ING1	overexpression; mutation	Skin Basal Cell Carcinoma	Our data indicate that overexpression and mutation of the ING1 gene are infrequent in human basal cell carcinoma.									
12523595	ING1	underexpression	Hepatocellular Carcinoma	Expression of p33(ING1) was reduced in HCC, especially in moderately and poorly differentiated HCCs, and those at advanced stages.				CCNE1	negative correlation	Furthermore, expression of p33(ING1) correlated inversely with cyclin E kinase activity.			
11966686	ING1	overexpression	Melanoma	We found that p33ING1 is overexpressed at both mRNA and protein levels in melanoma cell lines compared with normal melanocytes.									
11943021	ING1	loss of expression	Metastatic Melanoma	In our series there was loss of nuclear p33ING1b expression in invasive malignant melanoma compared with normal cutaneous melanocytes or the melanocytes of benign melanocytic naevi.									
10754201	ING1	underexpression	Breast Carcinoma	However, in a comparison between the cancer and matched normal tissues, a significant decrease in ING1 mRNA expression was found in 17 of 24 (70.8%) breast cancer tissues.									
10660101	ING1	underexpression	Gastric Carcinoma	A significant decrease in p33(ING1) expression was evident in 15 of 20 gastric cancers.									
10577281	ING1	underexpression	Lymphocytic Neoplasm	We found decreased expression of ING1 mRNA in 4 of 5 T-cell lines and 5 of 11 B-cell lines including two Burkitt lymphomas and two myelomas. These observations suggest that decreased ING1 expression might play an important role in the development or progression of some lymphoid tumors.									
10498868	ING1	underexpression (mutation)	Breast Carcinoma	One germline missense alteration and three germline silent alterations were detected in 377 primary breast cancers while marked (2 - 10-fold) decreases in ING1 mRNA expression were seen in 44% of primary breast cancers and in ten of ten breast cancer cell lines examined.									
27527891	ING4	loss of expression (mutation)	Prostate Carcinoma	Furthermore, loss of ING4 in the context of oncogenic mutations is required for prostate tumorigenesis.							Miz1	positive regulation	ING4 directly binds the Miz1 promoter and is required to induce Miz1 mRNA and protein expression during luminal cell differentiation.
27466989	ING4	underexpression	Cervical Carcinoma	ING4 expression was decreased significantly at mRNA and protein levels in the tissues of cervical cancer compared with paracarcinoma tissues.				HPV E6/E7	positive correlation	Ectopic expression of ING4 reduced the proliferation of SiHa cells, accompanied by decreased HPV E6/E7 transcription.			
26936485	ING4	underexpression	Colorectal Carcinoma	We demonstrated that both the low and high metastatic CRC cells exhibited a lower level of ING4 compared to the level in normal human colorectal mucous epithelial FHC cells.							P21; CDH1; CCNE1; IL-6; IL-8; VEGF; SNAI1; CDH2; VIM	positive regulation; positive regulation; negative regulation; negative regulation; negative regulation; negative regulation; negative regulation; negative regulation; negative regulation	Mechanistically, ING4 markedly upregulated P21 and E-cadherin but downregulated cyclin E, interleukin (IL)-6, IL-8, vascular endothelial growth factor (VEGF), Snail1, N-cadherin and vimentin in the LoVo CRC cells.
26813279	ING4	underexpression	Astrocytoma	Compared with the non-tumor control, the mRNA expression level of ING4 gene decreased significantly in the astrocytoma (P<0.05).				HIF-1A	negative correlation	The mRNA expression showed a negative correlation between ING4 and HIF-1 alpha with the increase of the tumor malignant degree.			
26045800	ING4	underexpression	Colorectal Carcinoma	ING4 expression levels show negative correlation with the clinical stage, histological grade, and lymph node metastasis of colorectal cancer.									
25792601	ING4	underexpression	Breast Carcinoma	Significantly, the expression of JFK is markedly up-regulated in breast cancer, and the level of JFK is negatively correlated with that of ING4 and positively correlated with an aggressive clinical behavior of breast carcinomas.				JFK	negative correlation	Significantly, the expression of JFK is markedly up-regulated in breast cancer, and the level of JFK is negatively correlated with that of ING4 and positively correlated with an aggressive clinical behavior of breast carcinomas.			
25790869	ING4	underexpression	Bladder Carcinoma	ING4 protein and mRNA were significantly decreased in bladder cancer tissues.									
24762396	ING4	loss of expression	Prostate Carcinoma	ING4 expression is lost in >60% of human primary prostate tumors.	Pten	positive regulation	Pten loss prevents differentiation by blocking ING4 expression, which is rescued by ING4 re-expression.						
24057236	ING4	underexpression	Gastric Carcinoma	The results demonstrated that expressions of ING4 mRNA and protein in gastric carcinoma tissues and cells were significantly lower than those in normal tissues and cells (P < 0.05).							p65; p-IκBα; MMP-9; uPA; IκBα 	negative regulation; negative regulation; negative regulation; negative regulation; positive regulation	Most notably, increased ING4 level evidently evoked the down-regulation of p65, p-IκBα, MMP-9 and uPA proteins and the up-regulation of IκBα protein.
23969950	ING4	underexpression; loss of expression	Gastric Carcinoma	The data showed that the expression of ING4 mRNA and protein was dramatically downregulated (or lost) in gastric carcinoma SGC7901/CDDP cells after CDDP-induced MDR phenotype and in the parental SGC7901 cells.									
23056468	ING4	underexpression	Breast Carcinoma	We found that 34% of tumors expressed undetectable to low levels of the ING4 protein (n=227).				p-p65	negative correlation	In the same tumor set, we found that low ING4 expression correlated with high levels of nuclear phosphorylated p65/RelA (p-p65), an activated form of NF-κB (p=0.018).			
23055189	ING4	underexpression	Colorectal Carcinoma	CRC tissue had significantly lower levels of ING4 mRNA and protein compared to colonic adenoma and normal intestinal tissue.				MVD	negative correlation	Importantly, ING4 mRNA and protein levels were negatively correlated with MVD in CRC patients (p < 0.001).			
22767438	ING4	underexpression	Hepatocellular Carcinoma	These data suggested that miR-650 is correlated with the pathogenesis of HCC and is involved in the HCC tumorigenesis process by inhibiting the expression of ING4.	miR-650	negative regulation	These data suggested that miR-650 is correlated with the pathogenesis of HCC and is involved in the HCC tumorigenesis process by inhibiting the expression of ING4.						
22228137	ING4	underexpression	Ovarian Carcinoma	ING4 mRNA and protein were significantly downregulated in all ovarian cancer patients compared to normal controls (P < 0.001).				MVD	negative correlation	MVD correlated negatively with ING4 protein and mRNA levels (ρ = -0.865; P < 0.001 and ρ = -0.724; P < 0.001, respectively).			
21626442	ING4	underexpression	Colorectal Carcinoma	ING4 protein expression was downregulated in adenoma relative to normal mucosa and further reduced in colorectal cancer tissues.									
21315418	ING4	aberrant expression	Breast Carcinoma	We evaluated the ING4 gene status in 1033 breast cancer tissue samples and observed that ING4 was deleted in 16.5% (170/1033) of all breast cancers.				Her2	negative correlation	ING4 deletion was significantly associated with Her2 overexpression: of the tumors with ING4 deletion, 23.8% (39/164) were human epidermal growth factor 2 (HER2) positive, as compared with 14.1% (115/814) of the tumors without ING4 deletion (P = .002).			
21310648	ING4	underexpression	Head and Neck Squamous Cell Carcinoma	We found nuclear expression of ING4 was gradually decreased from non-cancerous epithelium and dysplasia to HNSCC and was negatively correlated with a poorly-differentiated status, T staging, and TNM staging in HNSCC.				p21; p300	positive correlation	In addition, nuclear expression of ING4 was positively correlated with p21 and p300 expression and with the apoptotic index.			
20716169	ING4	underexpression	Lung Carcinoma	By immunohistochemistry of 246 lung tumour tissues, reduced ING4 nuclear and cytoplasmic expression were both revealed in lung cancer and associated with tumour grade.									
20501848	ING4	copy number loss; mutation	Breast Carcinoma	ING4 is a candidate tumor suppressor gene that is deleted in 10% to 20% of human breast cancers and is mutated in various human cancer cell lines.									
19571607	ING4	underexpression	Glioma	The low expression and dysfunction of ING4 might be correlated with the tumorigenesis and progression of gliomas.									
19479822	ING4	loss of expression; underexpression	Glioma; Breast Carcinoma; Head and Neck Squamous Cell Carcinoma; Gastric Adenocarcinoma	ING4, a new member of the ING (inhibitor of growth) family of tumour suppressor genes, has been found to be deleted or down-regulated in gliomas, breast tumours, and head and neck squamous cell carcinomas. ING4 mRNA and protein expression was examined in gastric adenocarcinoma tissues and human gastric adenocarcinoma cell lines by RT-PCR, real-time RT-PCR, tissue microarray immunohistochemistry, and western blot analysis									
19430401	ING4	underexpression	Cutaneous Melanoma	The expression of ING4 was markedly reduced in cutaneous melanoma tissues.									
19208663	ING4	underexpression	Hepatocellular Carcinoma	The ING4 mRNA and protein levels were significantly lower in HCC than paracarcinomatous liver tissue from both real-time quantitative reverse transcription-PCR and Western blotting (P = 0.039 and 0.012, respectively).									
18779315	ING4	underexpression	Glioma	Herein, we demonstrate that in human gliomas, NF-kappaB is constitutively activated, ING4 expression is negligible, and NF-kappaB-regulated gene expression is elevated.									
18399550	ING4	underexpression	Lung Adenocarcinoma	The expression of ING4 was markedly reduced in human lung adenocarcinoma tissues.									
17363573	ING4	underexpression	Head and Neck Squamous Cell Carcinoma; Glioblastoma	ING4 expression is down-regulated in glioblastoma cells and head and neck squamous cell carcinoma.									
15935570	ING4	underexpression	Head and Neck Squamous Cell Carcinoma	Quantitative real-time RT-PCR analysis demonstrated decreased expression of ING4 mRNA in 76% of primary tumors as compared with that of matched normal samples.									
15029197	ING4	underexpression	Glioma	Expression of ING4 is significantly reduced in gliomas as compared with normal human brain tissue, and the extent of reduction correlates with the progression from lower to higher grades of tumours.									
27301862	RAG2	overexpression	Waldenstrom Macroglobulinemia	Compared with healthy donors, WM patient samples showed greatly enhanced expression of the VDJ recombination genes DNTT, RAG1, and RAG2, but not AICDA Genes related to CXCR4 signaling were also upregulated and included CXCR4, CXCL12, and VCAM1 regardless of CXCR4 mutation status, indicating a potential role for CXCR4 signaling in all WM patients.									
14521728	RAG2	aberrant expression	Colon Adenocarcinoma	The human epithelial cancer cell line (SW480) positively expressed SNC73, RAG1, and RAG2.									
27315121	MBD2	overexpression	Hepatocellular Carcinoma	Compared with PTL tissues, MBD2 expression was shown to be upregulated in 10 of the 20 HCC tissues (50%) by western blotting.									
24338710	MBD2	underexpression (hypermethylation)	Gastric Neoplasm	The promoter methylation status was determined by bisulfite sequencing, and we found reduced MBD2 and MBD3 levels in the neoplastic samples compared with the other groups.				MBD3	correlation	Moreover, a strong correlation between the MBD2 and MBD3 expression levels was observed in each set of paired samples.			
23755158	MBD2	SNP	Breast Carcinoma	Logic regression identified an interaction involving four SNPs (MBD2-rs4041245, MLH1-rs1799977, MDM2-rs769412, BRCA2-rs1799943) (P(permutation) = 2.4 × 10(-3)).									
21724586	MBD2	overexpression	Glioma	Taken together, our results suggest that MBD2 overexpression during gliomagenesis may drive tumor growth by suppressing the antiangiogenic activity of a key tumor suppressor.							BAI1	negative regulation	Chromatin immunoprecipitation showed that MBD2 was enriched at the promoter of silenced BAI1 in glioma cells and that MBD2 binding was released by 5-Aza-dC treatment.
21086164	MBD2	aberrant expression	Hilar Cholangiocarcinoma	In hilar cholangiocarcinoma, down-expression of miR-373 leads to increase of MBD2, which in turn suppresses the methylation-mediated gene such as RASSF1A.	miR-373	negative regulation	In hilar cholangiocarcinoma, down-expression of miR-373 leads to increase of MBD2, which in turn suppresses the methylation-mediated gene such as RASSF1A.				RASSF1A	negative regulation	In hilar cholangiocarcinoma, down-expression of miR-373 leads to increase of MBD2, which in turn suppresses the methylation-mediated gene such as RASSF1A.
16168120	MBD2	SNP	Breast Carcinoma	Because no coding SNPs were found in the MBD2 gene, one SNP in the noncoding exon (rs1259938) and another in the intron 3 (rs609791) were genotyped.									
15526354	MBD2	aberrant expression	Gastric Carcinoma	mbd2 was lower in cancerous tissue than in non-cancerous tissue in 14 (50.0%) of patients but higher in 3 cases (10.7%) of non-cancerous gastric tissue (P<0.001).									
15112265	MBD2	underexpression	Bladder Carcinoma	Overall, there was a significantly reduced risk associated with high levels of MBD2 expression (odds ratio [OR], 0.43; 95% confidence interval [CI], 0.21-0.90).									
12124339	MBD2	aberrant expression	Colon Carcinoma	The following 13 antigens reacted exclusively with sera from the colon cancer patients and not with sera from normal blood donors: p53, MAGEA3, SSX2, NY-ESO-1, HDAC5, MBD2, TRIP4, NY-CO-45, KNSL6, HIP1R, Seb4D, KIAA1416, and LMNA.									
12101420	MBD2	aberrant expression	Non-Small Cell Lung Carcinoma	When beta-actin was used as an internal control, the mRNA expression of three DNMTs (DNMT1, DNMT3A, and DNMT3B) and five MBPs (MBD1, MBD2, MBD3, MBD4, and MeCP2) was upregulated in SCLC, while only that of DNMT1, DNMT3B and MBD3 was upregulated in NSCLC, compared with normal lung tissues. However, when normalized using proliferating cell nuclear antigen (PCNA) as an internal control, these differences disappeared or diminished; there was even a significant reduction in the expression ratios of DNMT1, MBD2 and MeCP2 in SCLC and DNMT1, MBD2 and MBD4 in NSCLC.									
11965543	MBD2	overexpression	Breast Neoplasm	In pathological tissues samples MBD2 mRNA levels are significantly higher (P=0.001) in benign tumors compared with normal breast tissues, whereas MeCP2 expression is not modified in these specimens.									
11870882	MBD2	underexpression	Prostate Carcinoma	The results of these studies clearly demonstrate that DNMT1 activity is upregulated, whereas MBD2 is repressed at the level of translation in human prostate cancer.									
27687004	PRDM1	mutation	Plasmablastic Lymphoma	Furthermore, we demonstrate that recurrent somatic mutations in PRDM1 are found in 50% of plasmablastic lymphoma cases (8 of 16 cases evaluated).									
27568520	PRDM1	loss of expression	Activated B-Cell-Like Diffuse Large B-Cell Lymphoma	BLIMP-1 expression was frequently associated with the ABC phenotype and plasmablastic morphologic subtype of DLBCL, yet 63% of the ABC-DLBCL patients were negative for BLIMP-1 protein expression.				Myc; p53	association	In these patients, loss of BLIMP-1 was associated with Myc overexpression and decreased expression of p53 pathway molecules.			
27144525	PRDM1	mutation	Carcinoma of the Collecting Ducts of Bellini	We identified somatic SNVs in 14 other cancer census genes including: ATM, CREBBP, PRDM1, CBFB, FBXW7, IKZF1, KDR, KRAS, NACA, NF2, NUP98, SS18, TP53, and ZNF521.									
26530011	PRDM1	underexpression	Diffuse Large B-Cell Lymphoma; Hodgkin Lymphoma	It has been shown in DLBCL and Hodgkin lymphoma that PRDM1 is downregulated by cellular microRNAs.	EBV-miR-BHRF1-2 	negative regulation	EBV-miR-BHRF1-2 inhibition upregulated PRDM1 protein expression in lymphoblastoid cell lines (LCL), supporting a role of miR-BHRF1-2 in PRDM1 downregulation in vivo.				SCARNA20	negative regulation	Inhibition of EBV-miR-BHRF1-2 negatively regulates cell cycle and decreases expression of SCARNA20, a small nucleolar RNA that is also downregulated by PRDM1 overexpression.
26111727	PRDM1	mutation	Central Nervous System Lymphoma	The results showed that 68 out of 71 PCNSLs had mutations in the NF-κB gene network, most commonly affecting CD79B (83%), MYD88 (76%), TBL1XR1 (23%), PRDM1 (20%) and CREBBP1 (20%).									
25991819	PRDM1	loss of expression	Central Nervous System Lymphoma	Several genes recurrently affected in PCNSL were common with systemic DLBCL, including loss of TNFAIP3, PRDM1, GNA13, TMEM30A, TBL1XR1, B2M, CD58, activating mutations of CD79B, CARD11, and translocations IgH-BCL6.									
25743686	PRDM1	mutation	Plasma Cell Myeloma	We successfully tracked clonal evolution and identified mutation acquisition and/or loss in FAM46C, FAT1, KRAS, NRAS, SPEN, PRDM1, NEB, and TP53 as well as two mutations in XBP1, a gene associated with bortezomib resistance.									
25533804	PRDM1	loss of expression	Lymphona	Genomic studies of ALCL-11 showed the TP53 loss and the in vivo subclonal expansion of lymphoma cells, lacking PRDM1/Blimp1 and carrying c-MYC gene amplification.									
25382611	PRDM1	hypermethylation	Epstein-Barr Virus-Related Burkitt Lymphoma	Here we identified hypermethylation of the promoter region and exon 1 of PRDM1 in all six Epstein-Barr virus (EBV)-positive BL cell lines and 12 of 23 (52%) primary EBV-positive BL or BL-related cases examined, but in none of the EBV-negative BL cell lines or primary tumors that we assessed, implying a tumor suppressor role for PRDM1 specifically in EBV-associated BL.									
25203537	PRDM1	underexpression (copy number loss)	Nasal Type Extranodal NK/T-Cell Lymphoma	Of interest, this deleted region contains four candidate tumor suppressor genes whose decreased expression has been confirmed at the mRNA level: PRDM1, ATG5, AIM1, and HACE1.									
25115512	PRDM1	inactivation 	Lymphona	BLIMP1 is frequently inactivated in a variety of lymphomas, including diffuse large B cell lymphomas, Natural Killer cell lymphoma and anaplastic large T cell lymphoma.									
24518206	PRDM1	mutation	Plasma Cell Myeloma	Rearrangements reposition MYC near a limited number of genes associated with conventional enhancers, but mostly with super-enhancers (e.g., IGH, IGL, IGK, NSMCE2, TXNDC5, FAM46C, FOXO3, IGJ, PRDM1).									
24487434	PRDM1	inactivation 	Diffuse Large B-Cell Lymphoma; Hodgkin Lymphoma	Loss of function of the tumor suppressor gene PRDM1 (also known as BLIMP1) or deregulated expression of the oncogene BCL6 occurs in a large proportion of diffuse large B cell lymphoma (DLBCL) cases.									
24306881	PRDM1	SNP	Childhood Hodgkin Lymphoma	Recent GWAS study identified rs4946728 and rs1040411 noncoding SNPs located between PRDM1 and ATG1 genes on chromosome 6q21 as risk factors for secondary malignancies in patients formerly treated with radiotherapy for pediatric Hodgkin disease.									
24240734	PRDM1	mutation	Central Nervous System Lymphoma	Moreover, PCNSL cells show impaired IG class switch due to sμ region deletions, and PRDM1 mutations.									
24030746	PRDM1	copy number loss	Activated B-Cell-Like Diffuse Large B-Cell Lymphoma	BLIMP1 and/or 6q deletion was observed at a higher rate in 10/20 of cases.									
24004669	PRDM1	copy number loss	Anaplastic Large Cell Lymphoma	The commonest lesions were losses at 17p13 and at 6q21, encompassing the TP53 and PRDM1 genes, respectively.									
23768641	PRDM1	underexpression (copy number loss); underexpresion (hypermethylation)	Nasal Type Extranodal NK/T-Cell Lymphoma	Frequent deletions and promoter methylations in PRDM1, ATG5, AIM1, FOXO3, HACE1 mapping to 6q21-q25, suggest their roles as potential tumor suppressors.									
23348703	PRDM1	underexpression	Glioma	In this study, we showed that PRDM1 protein levels were inversely correlated with the pathological grade of gliomas and were predictive of patient survival in a retrospective analysis.	miR-30a-5p	negative regulation	Using bioinformatics and biological approaches, we found that PRDM1 was a direct target of miR-30a-5p, and PRDM1 dysfunction was attributable to miR-30a-5p-mediated repression.						
22922206	PRDM1	copy number loss	T-Cell and NK-Cell Neoplasm	FOXO3 and PRDM1 are located on 6q21, one of the most frequently deleted regions among natural killer (NK) cell neoplasms.									
22723553	PRDM1	underexpression	Plasma Cell Myeloma	The expression of ASK1 and Blimp-1 showed an inverse correlation between normal human mature B cells and bone marrow plasma cells from patients with multiple myeloma (MM).									
22711707	PRDM1	overexpression	Epstein-Barr Virus Positive HIV-Related Diffuse Large B-Cell Lymphoma	EBV+ tumor was associated with increased expression of BLIMP1 and CD30 and reduced expression of BCL6 and LMO2.									
22580854	PRDM1	loss of expression	Epstein-Barr Virus-Related Lymphoma	The loss of BLIMP1 in GC B cells could contribute to the pathogenesis of EBV-associated lymphomas by preventing plasma cell differentiation and viral replication.									
22102710	PRDM1	underexpression	Follicular Lymphoma	Gene expression analysis revealed increased expression of MAPK1, AKT1, PRKCE, IL4R and DROSHA and decreased expression of CDKN1A/p21, SOCS2, CHEK1, RAD51, KLF4, BLIMP1 and IRF4 in follicular lymphoma.									
21615994	PRDM1	aberrant expression	Primary Gastrointestinal Diffuse Large B-Cell Lymphoma	The immunohistochemical findings were as follows: 100% positivity for CD20, 0% for CD3ε and CD5, 17.8% (16/90) for CD10, 75.6% (68/90) for bcl-6, 52.2% (47/90) for MUM-1 (cut off was 30%), 43.3% (39/90) for MUM-1 (cut off was 80%), 50.0% (45/90) for GCET1, 45.6% (41/90) for FOXP1, 23.3% (21/90) for LMO2, 42.2% (38/90) for bcl-2 and 8.9% (8/90) for BLIMP1.									
21487109	PRDM1	loss of expression	Germinal Center-Derived B-Cell Lymphoma	Those were predominantly GCB-type DLBCL or follicular lymphoma grade 3, shared strong expression of IRF4/MUM1 and BCL6, and lacked PRDM1/BLIMP1 expression and t(14;18)/BCL2 breaks.									
21156281	PRDM1	inactivation 	Activated B-Cell-Like Diffuse Large B-Cell Lymphoma	In this report we show that the BLIMP1/PRDM1 gene is inactivated by multiple mechanisms, including homozygous deletions, truncating or missense mutations, and transcriptional repression by constitutively active BCL6, in 53% of ABC-DLBCL.									
19433448	PRDM1	overexpression	Breast Carcinoma	Commensurately higher Blimp1/PRDM1 expression was detected in ERalpha-negative breast cancer cells and primary breast tumors.									
18596541	PRDM1	mutation (loss of function)	Central Nervous System Lymphoma	Direct sequencing of all coding exons of the PRDM1 gene identified deleterious mutations associated with abrogation of PRDM1 protein expression in 4 of 21 (19%) PCNSLs.									
17974277	PRDM1	aberrant expression	Squamous Cell Lung Carcinoma	Squamous cell carcinoma predominantly expressed PRDM1 protein ( P < 0.01).									
17252022	PRDM1	underexpression	Waldenstrom Macroglobulinemia	We also found deregulation of genes involved in plasma cell differentiation such as PAX5, which was overexpressed in WM-PC, and IRF4 and BLIMP1, which were underexpressed.									
16585013	PRDM1	aberrant expression	B-Cell Neoplasm	Most B-neoplastic cells showing plasmablastic differentiation were PRDM1-positive.									
12453881	PRDM1	overexpression	Plasma Cell Myeloma	We observed the expression of Blimp-1 in the B-cell populations in all 11 MM patients but in none of 11 healthy subjects.									
27469217	ATRX	loss of expression (mutation)	Diffuse Astrocytic Neoplasm; Glioneuronal Tumor with Neuropil-Like Islands	The role of ATRX mutations, a class-defining alteration in diffuse astrocytic neoplasms, has not been assessed in GTNIs previously. Loss of ATRX immunoexpression, a surrogate marker for ATRX mutation, was seen in all four cases.									
27742788	ATRX	genetic alteration	Pancreatic Neuroendocrine Tumor	The most frequent alterations found in sporadic PNETs are in MEN1, DAXX/ATRX, and a variety of genes in the mTOR pathway.									
27696251	ATRX	mutation	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma	ATRX mutations were identified in 10% of the ATC samples.									
27663587	ATRX	genetic alteration	Pancreatic Neuroendocrine Tumor	Alternative lengthening of telomeres (ALT), a telomerase-independent telomere maintenance mechanism, is strongly associated with ATRX and DAXX alterations and occurs frequently in pancreatic neuroendocrine tumors (PanNETs).				ALT	negative correlation	Similarly, tumors with loss of ATRX/DAXX expression were significantly associated with ALT (p<0.001), aggressive clinical behavior, and reduced recurrence-free survival (p<0.001).			
27425854	ATRX	mutation	Astrocytic Tumor	Mutations commonly observed in astrocytic tumors (IDH1/2, TP53, ATRX, and PTEN) or ependymoma were not identified.									
27407094	ATRX	mutation	Pancreatic Neuroendocrine Tumor	Whole exome sequencing has identified recurrent mutations in the genes DAXX and ATRX, which correlate with loss of protein expression and alternative lengthening of telomeres (ALT).				ALT	correlation	Whole exome sequencing has identified recurrent mutations in the genes DAXX and ATRX, which correlate with loss of protein expression and alternative lengthening of telomeres (ALT).			
26221190	ARID2	mutation	Melanoma	Of the 40 most commonly mutated genes, 12 (30.0%) encoded epigenetic regulators, including genes encoding enzymes involved in histone modification (MECOM, MLL2, SETD2), chromatin remodeling (ARID1B, ARID2), and DNA methylation and demethylation (TET2, IDH1)									
27228211	ATRX	mutation	Pediatric Glioma	Pediatric gliomas harbor mutations for H3F3A, ATRX and DAXX but not IDH.									
27209355	ATRX	mutation (loss of function)	Adrenal Gland Pheochromocytoma	A somatic loss-of-function mutation affecting ATRX was identified in tumor DNA.									
27162024	ATRX	loss of expression	Pancreatic Neuroendocrine Tumor	Loss of ATRX/DAXX immunoexpression was noted in 18 cases (39.1%), and was significantly more frequent in tumors larger than 5cm.									
26221190	ARID1B	mutation	Melanoma	Of the 40 most commonly mutated genes, 12 (30.0%) encoded epigenetic regulators, including genes encoding enzymes involved in histone modification (MECOM, MLL2, SETD2), chromatin remodeling (ARID1B, ARID2), and DNA methylation and demethylation (TET2, IDH1).									
27036230	ATRX	loss of expression	Glioma	Their molecular profile was characterized by IDH mutations and loss of ATRX expression.									
27009842	ATRX	mutation	Neuroblastoma	CHD9, a cancer driver gene, was the most significantly altered (4.0% of cases) after ALK.Other genes (PTK2, NAV3, NAV1, FZD1 and ATRX), expressed in neuroblastoma and involved in cell invasion and migration were mutated at frequency ranged from 4% to 2%.Focal adhesion and regulation of actin cytoskeleton pathways, were frequently disrupted (14.1% of cases) thus suggesting potential novel therapeutic strategies to prevent disease progression.Notably BARD1, CHEK2 and AXIN2 were enriched in rare, potentially pathogenic, germline variants.In summary, whole exome and deep targeted sequencing identified novel cancer genes of clinically aggressive neuroblastoma.									
26891131	ATRX	mutation	Uterine Corpus Leiomyosarcoma	All the observed ATRX alterations were either nonsense or frameshift mutations.									
26221190	IDH1	mutation	Melanoma	Of the 40 most commonly mutated genes, 12 (30.0%) encoded epigenetic regulators, including genes encoding enzymes involved in histone modification (MECOM, MLL2, SETD2), chromatin remodeling (ARID1B, ARID2), and DNA methylation and demethylation (TET2, IDH1).									
26794043	ATRX	copy number loss	Childhood Neuroblastoma	These smaller aberrations included focal ATRX deletion in two tumors and three cases of novel deletions in chromosomal region 19q13.2 causing homozygous loss of multiple genes including the CIC (Capicua) gene.									
26692951	ATRX	mutation	Leiomyosarcoma	We identified TP53 mutations in 19 of the 54 tumors (35%) and ATRX mutations in 9 of the 54 tumors (17%).									
26681766	ATRX	genetic alteration	Central Nervous System Neoplasm	The most commonly detected alterations were IDH1, TP53, TERT, ATRX.									
26671986	ATRX	mutation	Glioma	This review summarizes the current experience using immunohistochemistry of glioma samples to identify mutations in IDH1, TP53, ATRX, histone H3 genes, BRAF, EGFR, MGMT, CIC, and FUBP1 as well as guidelines for prudent use of DNA sequencing as a supplemental method.									
26633716	ATRX	mutation	Neuroblastoma	High-risk NB frequently displays MYCN amplification, mutations in ALK and ATRX, and genomic rearrangements in TERT genes.									
26523776	ATRX	copy number loss	Neuroblastoma	TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis.									
26496030	ATRX	genetic alteration	Glioblastoma	Chromatin modifying genes- ATRX, MLL3, MLL4, SETD2 and SRCAP also showed alterations.									
26443480	ATRX	 overexpression (hypomethylation)	Giant Cell Glioblastoma	ATRX loss was detected immunohistochemically in 19% of giant cell glioblastomas, but absent in 17 gliosarcomas.									
26428317	ATRX	loss of expression	Leiomyosarcoma; Angiosarcoma; Pleomorphic Liposarcoma; Dedifferentiated Liposarcoma; Undifferentiated Pleomorphic Sarcoma; Myxofibrosarcoma	We previously reported that alternative lengthening of telomeres and loss of ATRX expression were common in leiomyosarcoma, angiosarcoma, pleomorphic liposarcoma, and dedifferentiated liposarcoma. In the present study, we screened an additional 245 sarcomas of other types to determine the prevalence of alternative lengthening of telomeres, loss of ATRX/DAXX expression, and their relationship. Undifferentiated pleomorphic sarcomas were frequently alternative lengthening of telomeres positive (65%) and loss of ATRX was seen in approximately half of the alternative lengthening of telomeres-positive tumors. Nineteen of 25 myxofibrosarcomas were alternative lengthening of telomeres-positive, but only one was ATRX deficient.									
26395639	ATRX	loss of expression	Astrocytoma	ATRX loss was detected by immunohistochemistry (IHC) and was shown to be much less frequent in pGBs (3.5%) than in grade II, III astrocytomas and IV sGBs (31%).				IDH1R132H; p53; MGMT	correlation	Strong correlations were found between ATRX loss and IDH1R132H mutation, p53 overexpression as well as MGMT hypermethylation.			
26303716	ATRX	mutation	Pancreatic Neuroendocrine Tumor	It will also be important to evaluate whether newly discovered mutations in pancreatic NETs, such as DAXX/ATRX, are associated with response to chemotherapy.									
26291601	ATRX	loss of expression	Sarcoma	Interestingly, a further 20 sarcomas, all belonging to the aforementioned entities with complete ATRX loss, presented with a heterogeneous ATRX expression pattern.									
26190196	ATRX	loss of expression	Primary Angiosarcoma; Epithelioid Hemangioendothelioma	Loss of ATRX expression was observed in 21% (16/77) of the primary angiosarcomas and 9% (1/11) of epithelioid hemangioendotheliomas.				ALT	negative correlation	Remarkably, ALT was highly associated with loss of ATRX expression: all but 2 ALT-positive angiosarcomas were ATRX deficient.			
26061751	ATRX	mutation	Low Grade Glioma	Nearly all lower-grade gliomas with IDH mutations and no 1p/19q codeletion had mutations in TP53 (94%) and ATRX inactivation (86%).				IDH	correlation	Nearly all lower-grade gliomas with IDH mutations and no 1p/19q codeletion had mutations in TP53 (94%) and ATRX inactivation (86%).			
26026117	ATRX	loss of expression	Pancreatic Neoplasm	The ALT-positive phenotype was significantly associated with tumors of pancreatic origin (7/10) and loss of ATRX or DAXX protein (8/10).				ALT	negative correlation	The ALT-positive phenotype was significantly associated with tumors of pancreatic origin (7/10) and loss of ATRX or DAXX protein (8/10).			
26022452	ATRX	loss of expression	Liposarcoma	Eighteen (16%) and one (1%) tumors were negative for ATRX and DAXX immunostaining, respectively.				ALT	negative correlation	Remarkably, all cases with loss of either ATRX or DAXX expression had alternative lengthening of telomeres, and 83% (19/23) of tumors that had alternative lengthening of telomeres showed loss of either protein.			
26017030	ATRX	mutation	Acquired α-thalassemia Myelodysplastic Syndrome	In addition, we reported four novel mutations of the ATRX gene in ATMDS.									
26014050	ATRX	mutation	Glioma	Tumor sequencing studies further indicate that acquired somatic mutations of TERT and ATRX are among the most frequent alterations found in adult gliomas.									
26004297	ATRX	mutation	Glioma	Pediatric gliomas differ in their spectrum of disease from those in adults; high grade gliomas occurring in children frequently have mutations in H3F3A, ATRX and DAXX, but not IDH.									
25991674	ATRX	loss of expression	Astrocytic Glioma	None of the astrocytic gliomas showed p53 accumulation, and ATRX loss was found in three of the 15 astrocytic gliomas.									
25668564	ATRX	loss of expression	Astrocytoma; Oligoastrocytoma	Loss of ATRX expression was more common in tumors with an astrocytic component (astrocytomas II/III, 46.4%; oligoastrocytomas, 47.5%) but was uncommon in oligodendrogliomas (7.3%) and glioblastomas (0.9%).									
25664944	ATRX	mutation	Low Grade Glioma	Adult LGG are characterized by IDH1/2 mutations and ATRX mutations in astrocytic tumors and IDH1/2 mutations and 1p/19q codeletions in oligodendroglial tumors.									
25531179	ATRX	mutation	Merkel Cell Carcinoma	We demonstrate high-penetrance nonsense mutations in PDE4DIP (n = 4) as well as various missense mutations in the DNA damage response (PRKDC, AURKB, ERCC5, ATR, and ATRX) and epigenetic modulating enzymes (MLL3).									
25479829	ATRX	mutation	Childhood Glioblastoma	H3F3A, HIST1H3B, IDH1, ATRX, DAXX and Tp53 mutations were identified by sequencing/immunohistochemistry in 27 pediatric GBMs.									
25461780	ATRX	mutation	Glioblastoma	Pediatric GBMs differ from those in adults and frequently have mutations in H3F3A, ATRX, and DAXX, but not IDH.									
25439321	ATRX	loss of expression	Ileal Neuroendocrine Tumor G1	Additionally, the loss of ATRX expression was registered, thus underlying a tumorigenic role in a subgroup of these tumors.									
25418835	ATRX	overexpression	Non-Small Cell Lung Carcinoma	Immunohistochemical study showed that Rad54 and XRCC2 proteins were highly expressed in the majority of non-small-cell lung cancer (NSCLC) and gastric cancer, and that expression of these two proteins was significantly correlated with that of WT1 protein in NSCLCs.									
25231549	ATRX	mutation	Pediatric High-Grade Glioma	Recently, common genetic alterations, including mutations in the H3F3A/ATRX/DAXX pathway, have been described in approximately 30% of the pediatric cases.									
25231023	ATRX	mutation	Adenosarcoma	Three out of 18 (17%) had mutations in ATRX, all associated with SO.									
25229770	ATRX	loss of expression	Leiomyosarcoma	Loss of ATRX expression was observed in 33% of the tumors (30/92), and all but 2 ATRX-deficient tumors were ALT positive.				ALT	negative correlation	Loss of ATRX expression was observed in 33% of the tumors (30/92), and all but 2 ATRX-deficient tumors were ALT positive.			
25077701	ATRX	loss of expression	Neuroblastoma	ATRX negative expression was present in the tumors.									
24810474	ATRX	underexpression	Astrocytoma; Anaplastic Astrocytoma; Glioblastoma	In our cohort, low ATRX mRNA expression was detected in 68% of astrocytomas, 50% of anaplastic astrocytomas and 41.6% of glioblastomas.				IDH1/2	correlation	Low ATRX expression closely overlapped with mutations in IDH1/2 (P<0.0001) in astrocytic tumors across WHO grades II-IV.			
24705251	ATRX	mutation	Pediatric High-Grade Glioma	We identified recurrent somatic mutations in ACVR1 exclusively in DIPGs (32%), in addition to previously reported frequent somatic mutations in histone H3 genes, TP53 and ATRX, in both DIPGs and NBS-HGGs.									
24703847	ATRX	mutation	Childhood Osteosarcoma	Beyond TP53, the RB1, ATRX, and DLG2 genes showed recurrent somatic alterations in 29%-53% of the tumors.									
24691963	ATRX	mutation	Pediatric High-Grade Glioma	However, genome-wide sequencing of pediatric high-grade gliomas revealed somatic heterozygous mutations in the genes encoding histones H3.1 and H3.3, as well as mutations in the chromatin modifiers ATRX and DAXX.									
26254420	RBBP4	aberrant expression	Pleural Malignant Mesothelioma	In the Gordon Mesothelioma Study, 34 of them were assessed out of which SUMO1, UBC3, KIAA0101, HDAC2, DAXX, RBBP4, BBS1, NONO, RBBP7, HTRA2, and STUB1 were significantly overexpressed whereas TRAF6 and MTA2 were significantly underexpressed in MPM patients (network 2).									
24436263	ATRX	mutation	Pancreatic Neuroendocrine Tumor	Mutation in DAXX/ATRX is only seen in pancreatic neuroendocrine tumors, making it a useful potential marker in distinguishing these tumors from mimics.									
24430597	ATRX	loss of expression	Pancreatic Neuroendocrine Tumor	Loss of expression of DAXX and ATRX proteins has been recently identified in 45 %.									
24285547	ATRX	mutation	Thalamic Glioma	Further sequencing revealed recurrent mutations in TP53, ATRX, NF1, and EGFR.									
24148618	ATRX	mutation	Pancreatic Neuroendocrine Tumor	Mutations in death domain-associated protein gene (DAXX) or ATR-X gene (ATRX) (which both encode proteins involved in chromatin remodeling) have been detected in 40% of pNETs, in association with activation of alternative lengthening of telomeres.									
23954140	ATRX	mutation	Pancreatic Neuroendocrine Tumor	α-Thalassemia/mental retardation syndrome X-linked protein (ATRX) and death domain-associated protein (DAXX) genes are tumor suppressors whose mutations have been identified in sporadic pancreatic neuroendocrine tumors as well as in patients with MEN1. 									
23904111	ATRX	loss of expression	 Anaplastic Astrocytoma; Anaplastic Oligoastrocytoma; Anaplastic Oligodendroglioma	Loss of ATRX expression was detected in 45 % of anaplastic astrocytomas (AA), 27 % of anaplastic oligoastrocytomas (AOA) and 10 % of anaplastic oligodendrogliomas (AO).									
23896276	ATRX	mutation	Glioma	Moreover, large-scale molecular profiling approaches have identified new mutations in gliomas, affecting IDH1, IDH2, H3F3, ATRX, and CIC, which has allowed subclassification of gliomas into distinct molecular subgroups with characteristic features of age, localisation, and outcome.									
23765250	ATRX	altered expression	Pediatric High-Grade Astrocytoma	We found that in pediatric high-grade astrocytomas, 29.6% of tumors were positive for ALT and 24.5% were immunonegative for the ATRX protein, these two alterations being highly associated with one another (P<0.0001).				ALT	negative correlation	We found that in pediatric high-grade astrocytomas, 29.6% of tumors were positive for ALT and 24.5% were immunonegative for the ATRX protein, these two alterations being highly associated with one another (P<0.0001).			
22886134	ATRX	genetic alteration	Astrocytoma	 We recently identified frequent alterations in chromatin remodelling pathways including recurrent mutations in H3F3A and mutations in ATRX (α-thalassemia/mental-retardation-syndrome-X-linked) in pediatric and young adult glioblastoma (GBM, WHO grade IV astrocytoma). 									
22869205	ATRX	mutation	Astrocytoma; Oligoastrocytoma; Glioblastoma, IDH-Mutant	ATRX is frequently mutated in grade II-III astrocytomas (71%), oligoastrocytomas (68%), and secondary glioblastomas (57%), and ATRX mutations are associated with IDH1 mutations and with an alternative lengthening of telomeres phenotype.									
22575867	ATRX	loss of expression	Pancreatic Neuroendocrine Tumor	ATRX and/or DAXX expression was lost in 3 of 50 (6%) pancreatic neuroendocrine tumors.									
22416102	ATRX	mutation	Neuroblastoma	In the discovery cohort (n = 40), mutations in the ATRX gene were identified in 100% (95% CI, 50%-100%) of tumors from patients in the adolescent and young adult group (5 of 5), in 17% (95% CI, 7%-36%) of tumors from children (5 of 29), and 0% (95% CI, 0%-40%) of tumors from infants (0 of 6).									
21719641	ATRX	mutation; loss of expression	Pancreatic Neuroendocrine Tumor	All of the PanNETs exhibiting these abnormal telomeres had ATRX or DAXX mutations or loss of nuclear ATRX or DAXX protein.									
21252315	ATRX	mutation	Pancreatic Neuroendocrine Tumor	The most frequently mutated genes specify proteins implicated in chromatin remodeling: 44% of the tumors had somatic inactivating mutations in MEN1, which encodes menin, a component of a histone methyltransferase complex, and 43% had mutations in genes encoding either of the two subunits of a transcription/chromatin remodeling complex consisting of DAXX (death-domain-associated protein) and ATRX (�?thalassemia/mental retardation syndrome X-linked).									
26254420	RBBP7	aberrant expression	Pleural Malignant Mesothelioma	In the Gordon Mesothelioma Study, 34 of them were assessed out of which SUMO1, UBC3, KIAA0101, HDAC2, DAXX, RBBP4, BBS1, NONO, RBBP7, HTRA2, and STUB1 were significantly overexpressed whereas TRAF6 and MTA2 were significantly underexpressed in MPM patients (network 2).									
27611742	SETBP1	mutation	Chronic Myelogenous Leukemia, BCR-ABL1 Positive	Moreover, we also detected novel genetic mutations in the known leukemic genes SETBP1, PAX5, and TP53, while their role in the leukemogenesis remains to be determined.									
27174585	SETBP1	mutation	Chronic Eosinophilic Leukemia, Not Otherwise Specified	The more frequently mutated genes included ASXL1 (43%), TET2 (36%), EZH2 (29%), SETBP1 (22%), CBL (14%), and NOTCH1 (14%).									
26637902	ARID2	loss of expression	Gastric Carcinoma	Loss of ARID1B and ARID2 was also related to tumor progression, but their relationship was weaker than that of ARID1A.									
26637902	ARID1B	underexpression	Gastric Carcinoma	Low expression rates of ARID1A, 1B, and 2 in gastric carcinoma were 20%, 10%, and 15% respectively. Loss of ARID1B and ARID2 was also related to tumor progression, but their relationship was weaker than that of ARID1A.									
26648538	ASXL1	mutation	Chronic Myelomonocytic Leukemia	Genes mutated in 10% of patients were SRSF2, TET2, ASXL1, RUNX1, SETBP1, KRAS, EZH2, CBL and NRAS, as well as the novel CMML genes FAT4, ARIH1, DNAH2 and CSMD1.									
26637732	SETBP1	mutation	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative; Chronic Neutrophilic Leukemia	These studies have revealed aCML to be a genetically more heterogeneous disease than CNL, however, several groups have reported that SETBP1 and ASXL1 mutations occur at a high frequency and carry prognostic value in both diseases.									
26389776	SETBP1	mutation	Plasma Cell Neoplasm	We report, for the first time, the occurrence of a SETBP1 mutation in two cases, as well as changes in G-CSF and IL-6 in SETBP1 wild type vs. mutated patients that are supportive of a hypothesis that neutrophilia associated with plasma cell neoplasms may sometimes be reactive and may sometimes represent a second clonal entity.									
26366092	SETBP1	mutation	Chronic Neutrophilic Leukemia	In addition to CSF3R mutations, other genetic alterations have been found, notably mutations in SETBP1, which may be used as prognostic markers to guide therapeutic decisions.									
26202160	SETBP1	mutation	Lipoma; Osteochondrolipoma	In three lipomas and in the osteochondrolipoma, exons 1-3 of HMGA2 were fused to a sequence of SETBP1 on 18q12.3 or an intragenic sequence from 18q12.3 circa 10 kbp distal to SETBP1.				HMGA2	Fusion	In three lipomas and in the osteochondrolipoma, exons 1-3 of HMGA2 were fused to a sequence of SETBP1 on 18q12.3 or an intragenic sequence from 18q12.3 circa 10 kbp distal to SETBP1.			
26648538	SETBP1	mutation	Chronic Myelomonocytic Leukemia	Genes mutated in 10% of patients were SRSF2, TET2, ASXL1, RUNX1, SETBP1, KRAS, EZH2, CBL and NRAS, as well as the novel CMML genes FAT4, ARIH1, DNAH2 and CSMD1. 									
26693053	CBX8	overexpression	Hepatocellular Carcinoma	Furthermore, Immunohistochemical staining revealed that the expression levels of CBX8 (in 53/123 samples) and BMI1 (in 60/130 samples) were markedly increased in human HCC specimens.									
26693053	BMI1	overexpression	Hepatocellular Carcinoma	Furthermore, Immunohistochemical staining revealed that the expression levels of CBX8 (in 53/123 samples) and BMI1 (in 60/130 samples) were markedly increased in human HCC specimens.									
25553291	SETBP1	mutation	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative	Recurrent somatic SET-binding protein 1 (SETBP1) and splicing pathway gene mutations have recently been found in atypical chronic myeloid leukemia and other hematologic malignancies.									
26732302	EP400	mutation	Ossifying Fibromyxoid Tumor	It is now established that OFMTs represent translocation-associated tumors, with up to 85% associated with recurrent gene rearrangements, mostly involving the PHF1 gene (including in typical, atypical, and malignant neoplasms), with EP400-PHF1 in approximately 40% of tumors, and ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions also described.									
25395418	SETBP1	mutation	Juvenile Myelomonocytic Leukemia	Using droplet digital polymerase chain reaction, we identified SETBP1 mutations in 17/56 (30%) of patients who were treated in the Children's Oncology Group sponsored clinical trial, AAML0122.									
25343957	SETBP1	mutation	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative	Despite the recent identification of recurrent SETBP1 mutations in atypical chronic myeloid leukemia (aCML), a complete description of the somatic lesions responsible for the onset of this disorder is still lacking.									
24854193	SETBP1	mutation	Myeloproliferative Neoplasm	The mutational status of SETBP1 and CSF3R was studied in 7 patients with aCML (n = 3), CNL (n = 1) and unclassifiable myeloproliferative neoplasms (MPN-u) (n = 3).									
26732302	PHF1	mutation	Ossifying Fibromyxoid Tumor	It is now established that OFMTs represent translocation-associated tumors, with up to 85% associated with recurrent gene rearrangements, mostly involving the PHF1 gene (including in typical, atypical, and malignant neoplasms), with EP400-PHF1 in approximately 40% of tumors, and ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions also described.				EP400; MEAF6; EPC1	Fusion	It is now established that OFMTs represent translocation-associated tumors, with up to 85% associated with recurrent gene rearrangements, mostly involving the PHF1 gene (including in typical, atypical, and malignant neoplasms), with EP400-PHF1 in approximately 40% of tumors, and ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions also described.			
26771811	ASXL1	mutation	Chronic Myelomonocytic Leukemia	Mutations involving epigenetic regulators (TET2~60% and ASXL1~40%) and splicing components (SRSF2~50%) are frequent in chronic myelomonocytic leukemia (CMML).									
23889083	SETBP1	mutation	Myelodysplastic Syndrome	Mutations in several genes, including SETBP1, were identified following leukaemic transformation.									
23832012	SETBP1	mutation (gain of function)	Myeloid Neoplasm	Somatic mutations of SETBP1 seem to cause gain of function, are associated with myeloid leukemic transformation and convey poor prognosis in myelodysplastic syndromes (MDS) and CMML.									
26771811	SETBP1	mutation	Chronic Myelomonocytic Leukemia	On a 27-gene targeted capture panel performed on 175 CMML patients (66% males, median age 70 years), common mutations included: TET2 46%, ASXL1 47%, SRSF2 45% and SETBP1 19%.									
23222956	SETBP1	mutation	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative	We performed exome sequencing of eight aCMLs and identified somatic alterations of SETBP1 (encoding a p.Gly870Ser alteration) in two cases.									
22873195	SETBP1	overexpression (mutation)	Acute Myeloid Leukemia	In this study, we describe a PMF case evolved to AML with a t(12;18)(p13;q12) rearrangement showing the downregulation of the intronic miR_4319 and the overexpression of its host gene, SET binding protein (SETBP1).									
26812616	ARID2	mutation	Esophageal Squamous Cell Carcinoma	Deep sequencing of components of the SWI/SNF complex using a bench-top next generation sequencer revealed that eight of 92 ESCCs (8.7%) had 11 somatic mutations of 7 genes, ARID1A, ARID2, ATRX, PBRM1, SMARCA4, SMARCAL1, and SMARCC1.									
27255895	NCOA1	overexpression	Prostate Carcinoma	Immunohistochemical staining of PCa patient samples revealed a strong increase in NCOA1 expression in primary tumors compared with normal prostate tissue, while no final conclusion could be drawn for PRKD1 expression in tumor specimens.							PRKD1	negative regulation	Protein kinase D1 (PRKD1) was found to be prominently up-regulated by NCOA1 knockdown in MDA PCa 2b, but not in PC3 cells.
26516695	NCOA1	aberrant expression	Head and Neck Squamous Cell Carcinoma	CKMT1 and NCOA1 were identified as independent risk factors for survival in an independent cohort analyzed by immunohistochemistry.									
26371783	NCOA1	mutation	Alveolar Rhabdomyosarcoma; Biphenotypic Sinonasal Sarcoma	As NCOA1 on 2p23 is a known partner in PAX3-related fusions in other tumor types (ie, alveolar rhabdomyosarcoma), we investigated its status by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction assays in 2 BSNS cases showing only PAX3 gene rearrangements. Novel PAX3-NCOA1 fusions were identified in these 2 index cases showing an inv(2)(q35p23) by FISH and confirmed by reverse transcription polymerase chain reaction.				PAX3	Fusion	As NCOA1 on 2p23 is a known partner in PAX3-related fusions in other tumor types (ie, alveolar rhabdomyosarcoma), we investigated its status by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction assays in 2 BSNS cases showing only PAX3 gene rearrangements. Novel PAX3-NCOA1 fusions were identified in these 2 index cases showing an inv(2)(q35p23) by FISH and confirmed by reverse transcription polymerase chain reaction.			
26287601	NCOA1	overexpression	Breast Carcinoma	Nuclear receptor coactivator 1 (NCOA1) is overexpressed in a subset of breast cancer and its increased expression positively correlates with disease recurrence and metastasis.							TWIST1; ITGA5; CSF-1; SDF1; CXCR4; VEGFa	positive regulation	Although NCOA1 is known to promote breast cancer metastasis through working with multiple transcription factors to upregulate the expression of Twist1, ITGA5, CSF-1, SDF1 and CXCR4, the role of NCOA1 in breast tumor angiogenesis has not been investigated. At the molecular level, NCOA1 upregulates VEGFa expression in both mouse mammary tumors and cultured breast cancer cells, and it does so by associating with both c-Fos, which is recruited to the AP-1 site at bp -938 of the VEGFa promoter, and HIF1α, which is recruited to the HIF1α-binding element at bp -979 of the VEGFa promoter, to enhance VEGFa transcription.
26812616	SMARCC1	mutation	Esophageal Squamous Cell Carcinoma	Deep sequencing of components of the SWI/SNF complex using a bench-top next generation sequencer revealed that eight of 92 ESCCs (8.7%) had 11 somatic mutations of 7 genes, ARID1A, ARID2, ATRX, PBRM1, SMARCA4, SMARCAL1, and SMARCC1.									
25534237	NCOA1	underexpression	Meningothelial Cell Neoplasm; Neuroepithelial Neoplasm	Compared to normal brain tissue, we found that the expression of SRC-1, SRC-3, and ER-α significantly decreased in meningothelial tumor and neuroepithelial tumor, suggesting that the SRC-1/SRC-3 levels may be regulated by ER-α.									
24705462	NCOA1	overexpression	Breast Carcinoma; Endometrial Carcinoma; Prostate Carcinoma	The steroid receptor coactivator-1 (SRC-1) is highly expressed in breast, endometrial, and prostate cancer.									
26812616	PBRM1	mutation	Esophageal Squamous Cell Carcinoma	Deep sequencing of components of the SWI/SNF complex using a bench-top next generation sequencer revealed that eight of 92 ESCCs (8.7%) had 11 somatic mutations of 7 genes, ARID1A, ARID2, ATRX, PBRM1, SMARCA4, SMARCAL1, and SMARCC1.									
26812616	ATRX	mutation	Esophageal Squamous Cell Carcinoma	Deep sequencing of components of the SWI/SNF complex using a bench-top next generation sequencer revealed that eight of 92 ESCCs (8.7%) had 11 somatic mutations of 7 genes, ARID1A, ARID2, ATRX, PBRM1, SMARCA4, SMARCAL1, and SMARCC1.									
23531850	NCOA1	aberrant expression	Adrenal Cortex Carcinoma	Positive staining was observed for SRC-1 (39/40; 97.5%), inhibin-α (37/40; 92.5%), calretinin (32/40; 80%), synaptophysin (29/40; 72.5%), melan A (26/40; 65%), and CAM5.2 (9/40; 22.5%).									
21654685	NCOA1	overexpression	Melanoma	Expression levels of the transcription factor HOXC11 and its coactivator SRC-1 were significantly elevated in malignant melanoma in comparison with benign nevi (P<0.001 and P=0.017, respectively, n=80), and expression of HOXC11 and SRC-1 in the malignant tissue associated with each other (P<0.001).									
21343398	NCOA1	overexpression	Breast Carcinoma	Steroid receptor coactivator-1 (SRC-1 or NCOA1) is overexpressed in a subset of breast cancers with poor prognosis.									
20032008	NCOA1	aberrant expression	Anaplastic Thyroid Tumor	Totally, 87% of anaplastic tumours were positive for SRC-1.				NcoR	correlation	These data suggest opposing roles for the coregulators SRC-1 and NCoR in thyroid tumour progression.			
20003447	NCOA1	SNP	Breast Carcinoma	Through our resequencing effort, we identified 74 novel SNPs (30 in NCoR, 32 in SMRT, 10 in SRC-3, and 2 in SRC-1).									
25699170	SMN1	loss of expression	Synovial Sarcoma	SMA, Desmin, CD34, CD117 and S100 were negative in all cases, whereas EMA and/or CK AE1/AE3 were positive in all cases.									
25471503	SMN1	loss of expression	Nasopharyngeal Papillary Adenocarcinoma	These five cases were all negative for TG, CK5/6, CK20, S-100 protein, p63, Calponin and SMA.									
24777337	SMN1	overexpression	Esophageal Carcinoma	Esophageal cancer tissues showed positive expression of FGF-2, CD31, and SMA; in contrast, FGF-2 expression was not detected and only little staining for CD31 and SMA was noted in normal epithelium.									
24341853	SMN1	aberrant expression	Rhabdomyosarcoma	By immunohistochemistry, the tumor cells were positive for vimentin, desmin, smooth muscle actin (SMA), muscle-specific actin (MSA), CD10, CD56, CD99, β-catenin and D2-40.									
24040461	SMN1	loss of expression	Epithelioid Malignant Peripheral Nerve Sheath Tumor	Unlike other epithelial tumors, smooth muscle actin (SMA), cytokeratin, EMA and S-100 were all negative in the epithelioid tumor cells.									
23650991	SMN1	aberrant expression	Giant Cell Tumor of Bone	All immunostained cases were found positive for smooth muscle actin (SMA) and/or muscle specific actin (MSA), most in 1-33% of the MSCs.									
23468260	SMN1	loss of expression	Gastrointestinal Stromal Tumor	Nearly 49% (38 cases) of the GISTs were negative for SMA by immunohistochemistry.									
22775584	SMN1	aberrant expression	Cellular Benign Fibrous Histiocytoma	SMA positivity was found in tumor cells in 93 of 100 cases (93%).									
22543453	SMN1	aberrant expression	Bone Neoplasm	Alpha isoform of smooth muscle actin (SMA) expression has been reported in giant cell tumour of bone (GCTB) and other benign and malignant bone tumours, but the pattern of SMA expression and the precise nature of SMA-expressing cells in these lesions is uncertain.									
22486319	SMN1	aberrant expression	Myofibroma	Solitary and multifocal myofibromas stained positively for smooth muscle actin (SMA) in 95% and 92% of cases, muscle-specific actin (MSA) in 75% and 50% of cases, and desmin in 10% and 14% of cases, respectively.									
20032423	SMN1	loss of expression	Epithelial-Myoepithelial Carcinoma	The tumor cells were negative for vimentin, alpha-smooth muscle actin (SMA) (except one case), glial fibrillar acid protein (GFAP) and MIB1.									
27709558	SIRT3	underexpression (copy number loss)	Colorectal Carcinoma	Subsequent integrated analyses revealed that increased expression levels of the MMP9, BMP7, UBE2C, I-CAM, NOTCH3, NOTCH1, PTGES2, HMGB1 and ERBB3 genes were associated with copy number gains, whereas decreased expression levels of the MUC1, E2F2, HRAS and SIRT3 genes were associated with copy number losses.									
27216459	SIRT3	underexpression	Ovarian Carcinoma	Here, we found that SIRT3 was significantly down-regulated in the metastatic tissues and highly metastatic cell line of ovarian cancer.									
27114304	SIRT3	overexpression	Renal Cell Carcinoma	We show increased Sirt3 expression in the mitochondrial fraction of human RCC tissues.									
26812616	SMARCA4	mutation	Esophageal Squamous Cell Carcinoma	Deep sequencing of components of the SWI/SNF complex using a bench-top next generation sequencer revealed that eight of 92 ESCCs (8.7%) had 11 somatic mutations of 7 genes, ARID1A, ARID2, ATRX, PBRM1, SMARCA4, SMARCAL1, and SMARCC1.									
26922015	SIRT3	underexpression	Hepatocellular Carcinoma	SIRT3 expression was significantly lower in the 3 HCC cell lines than in immortalized hepatocytes and normal liver tissues.									
26785117	SIRT3	underexpression	Hepatocellular Carcinoma	A statistically significant downregulation of SIRT3 (p<0.001), SIRT4 (p<0.0001), MTUS1 (p<0.002) and OGG1 (p<0.0001) was observed in HNSCC compared to control samples.				SIRT4; MTUS1; OGG1-2a	positive correlation	Additionally, to explore gene-gene relationship, we observed a positive spearmen correlation between SIRT3 versus SIRT4 (r = 0.523***, p<0.0001), SIRT3 versus MTUS1 (r = 0.273***, p<0.001), SIRT3 versus OGG1-2a (r = 0.213*, p<0.03), SIRT4 versus OGG1 (r = 0.338***, p<0.0001) and MTUS1 versus OGG1-2a (r = 0.215*, p<0.03) in HNSCC cases.			
26743598	SIRT3	overexpression	Melanoma	We found that compared with normal primary and immortalized human melanocytes, SIRT3 is significantly overexpressed in multiple human melanoma cells at mRNA and protein levels.									
26631723	SIRT3	underexpression	B cell malignancy	Further, SIRT3 protein expression was reduced in chronic lymphocytic leukemia primary samples and malignant B cell lines compared to primary B cells from healthy donors.									
26317998	SIRT3	underexpression	Prostate Carcinoma	We found that SIRT3 was moderately down-regulated in prostate carcinomas.							Akt; c-MYC	regulation; negative regulation	Notably, upregulation of SIRT3 suppressed the phosphorylation of Akt, leading to the ubiquitination and degradation of oncoprotein c-MYC; this could be attenuated by constitutive activation of PI3K/Akt signaling.
26131100	SIRT3	underexpression	Gastric Carcinoma	The present study revealed that the mRNA and protein levels of SIRT3 were significantly reduced in human gastric cancer tissues and cell lines.									
26121691	SIRT3	overexpression	Gastric Carcinoma	This study demonstrated that the expression of SIRT3 was elevated in a group of gastric cancer cells compared to normal gastric epithelial cells. Although SIRT3 expression levels were increased in the gastric tumor tissues compared to the adjacent non-tumor tissues, SIRT3 positive cancer cells were more frequently detected in the intestinal type gastric cancers than the diffuse type gastric cancers, indicating that SIRT3 is linked with subtypes of gastric cancer.							LDHA	positive regulation	Further analysis revealed that SIRT3 interacted with and deacetylated the lactate dehydrogenase A (LDHA), a key protein in regulating anaerobic glycolysis, enhancing LDHA activity.
25915842	SIRT3	underexpression	Hepatocellular Carcinoma	In this study, we found that SIRT3 expression was frequently repressed in HCC and its downregulation was closely associated with tumor grade and size.							GSK-3β; Bax	positive regulation	Mechanistic studies revealed that SIRT3 deacetylated and activated glycogen synthase kinase-3β (GSK-3β), which subsequently induced expression and mitochondrial translocation of the pro-apoptotic protein BCL2-associated X protein (Bax) to promote apoptosis.
25755250	SIRT3	underexpression	Pancreatic Neoplasm	Finally, we show that GOT2K159 acetylation is increased in human pancreatic tumors, which correlates with reduced SIRT3 expression.				GOT2	correlation	Finally, we show that GOT2K159 acetylation is increased in human pancreatic tumors, which correlates with reduced SIRT3 expression.			
25005846	SIRT3	overexpression	Esophageal Squamous Cell Carcinoma	High expression of SIRT3 in ESCC tissues was more frequently observed than corresponding adjacent non-malignant esophageal mucosa tissues.									
24955214	SIRT3	underexpression	Breast Carcinoma	Recently, SIRT3 was reported to be decreased in 87% of breast cancers, resulting therefore in a decrease in the activity of SOD2 and an elevation in ROS.							SOD2; ROS	positive regulation; negative regulation	Recently, SIRT3 was reported to be decreased in 87% of breast cancers, resulting therefore in a decrease in the activity of SOD2 and an elevation in ROS.
26883102	ASXL1	mutation	Myeloid Neoplasm	Eight of 28 patients (29%) showed concurrent mutations in ASXL1, SRSF2, SETBP1 and RAS.									
24746213	SIRT3	underexpression	Breast Neoplasm	SIRT3 protein expression is significantly lower in neoplastic compared with normal breast epithelium, including normal epithelium adjacent to tumors.									
24448804	SIRT3	underexpression	Breast Carcinoma	Recent studies indicated that SIRT3 is decreased in 87% of breast cancers, implying that the activity of SOD2 is compromised.									
24287180	SIRT3	underexpression	Gastric Carcinoma	Western blot analysis of 25 samples from GC patients showed that 64% (16/25) of patients exhibited decreased expression of SIRT3, whereas 4.0% (1/25) of patients displayed complete loss.				HIF-1α	negative correlation	In vitro experiment showed that knockdown of SIRT3 in MGC-803 gastric cancer cells significantly increased the expression of HIF-1α.			
23898059	SIRT3	overexpression	Thyroid Gland Papillary Carcinoma	NAMPT and SIRT3 expression was low in benign thyroid tissues, moderately increased in FC, and more highly expressed in PTC.									
23842789	SIRT3	underexpression	Lung Adenocarcinoma	In the present study, we found that Sirt3 protein expression was downregulated in human lung adenocarcinoma tissue when compared with that in adjacent normal tissue.							p53; p21; ROS	positive regulation; positive regulation; negative regulation	Finally, Sirt3 overexpression upregulated p53 and p21 protein levels, and decreased intracellular ROS levels.
23800187	SIRT3	mutation (loss of function)	Oral Cavity Squamous Cell Carcinoma	We also sequenced the entire coding region of SIRT3 and found the same mutation in 2 different OSCC cell lines. This point mutation is located in close proximity to the active site of deacetylase in the SIRT3 protein, and reduces the overall enzymatic efficiency of deacetylation.									
23790338	SIRT3	underexpression	Hepatocellular Carcinoma	Immunohistochemical assay showed that the SIRT3 positive expression rates were 100.0% (10/10), 96.7% (29/30) and 60.0% (18/30), respectively in normal group, paracancer group and HCC group.									
23562596	SIRT3	overexpression	Breast Carcinoma; Oral Cavity Squamous Cell Carcinoma	Increased SIRT3 transcription has been associated with node-positive breast cancer and oral squamous cell carcinoma.									
26883102	SETBP1	mutation	Myeloid Neoplasm	In addition to the common i(17q), these neoplasms had frequent mutations in SRSF2 (55%), SETBP1 (59%), ASXL1 (55%), and NRAS (31%); TET2 and TP53 mutations were rare.				RAS	association	There was a significant association between mutations in SETBP1 and RAS (p = 0.003).			
23272146	SIRT3	underexpression	Hepatocellular Carcinoma	In this study, we demonstrated that SIRT3 expression in HCC tissue was much lower than that in paracarcinoma tissue, at both mRNA and protein levels.									
22609775	SIRT3	underexpression	Hepatocellular Carcinoma	In this study, we found that Sirt3 protein expression was downregulated in human HCC tissue.							p53; Mdm2	positive regulation; negative regulation	Furthermore, Sirt3 overexpression upregulated p53 protein level through downregulating Mdm2 and thereby slowing p53 degradation.
21472714	SIRT3	overexpression	Oral Cavity Squamous Cell Carcinoma	The expression levels of all sirtuins in several oral squamous cell carcinoma (OSCC) cell lines were compared with normal human oral keratinocytes and observed that SIRT3 was highly expressed.									
21397863	SIRT3	underexpression	Breast Carcinoma	SIRT3 expression is reduced in human breast cancers, and its loss correlates with the upregulation of HIF1α target genes.							HIF1α	negative regulation	SIRT3 loss increases reactive oxygen species production, leading to HIF1α stabilization.
20129246	SIRT3	underexpression	Breast Carcinoma	Finally, human breast and other human cancer specimens exhibit reduced SIRT3 levels.									
26747525	CTCF	mutation	Head and Neck Squamous Cell Carcinoma	A number of genes were uniquely mutated in the progressor cohort including increased frequency of truncating mutations in CTCF (P=0.007).									
26639241	CTCF	underexpression	Hepatocellular Carcinoma	Apanel of 21 genes, including TRADD, PSMB10, THAP11, CTCF and ESRP2, were significantly downregulated in HCCs with 16q22.1 loss compared to those without the loss.									
26330387	CTCF	mutation	Endometrial Carcinoma	The chromosome 16q22 tumor suppressor genes CTCF and ZFHX3 are both frequently mutated in EEC, but their respective roles in outcome have not been determined.									
26125810	CTCF	overexpression	Cervical Carcinoma	CTCF expression was significantly higher in carcinoma groups compared with LSIL, HSIL, and negative for intraepithelial lesion or malignancy groups.									
25499215	CTCF	aberrant expression	Prostate Carcinoma	In the first detailed analysis in cancer, a marked loss of CHD8 expression and increased BORIS/CTCF ratio indicate frequent disruption of CTCF and its effector genes in PCa.									
25469243	CTCF	mutation	Ovarian Carcinoma	Recently, large-scale sequencing has identified frequent ribonuclease type III (DICER1), CCCTC-binding factor (CTCF), ribosomal protein L22 (RPL22), DNA (cytosine-5-)-methyltransferase 3α (DNMT3A), transformation/transcription domain-associated protein (TRRAP), isocitrate dehydrogenase (IDH)1 and IDH2 hotspot mutations in diverse types of cancer.									
24842653	CTCF	underexpression	Breast Carcinoma	mRNA expression of CTCF and SIRT6 in invasive tumors showed a lower level than that in paired normal tissues (p=0.008 and p=0.030, respectively).									
24658009	CTCF	mutation	Endometrial Carcinoma	CTCF mutations were identified in 13%, with CTCF hotspot frameshift mutations at p.T204, all observed solely in the endometrioid subtype, but with no association with outcome.									
24649078	CTCF	underexpression	Breast Carcinoma	The MCF7 cells exhibited basal transcription of CTCF, which was significantly downregulated to 0.68 by 1 μM E2; basal or E2-regulated transcription of CTCFL was not detected.									
24393203	CTCF	overexpression	Childhood Acute Lymphoblastic Leukemia	Microarray analysis of samples from 100 Chinese children with ALL revealed the up-regulation of CTCF (CCCTC binding factor).	NF-κB	regulation	Furthermore, inhibition or activation of the nuclear factor-kappa B (NF-κB) pathway resulted in marked variations in the levels of CTCF mRNA and protein in leukemic cells, indicating that CTCF may be involved downstream of the NF-κB pathway.						
24130125	CTCF	mutation	Endometrial Carcinoma	Although CTCF was described as a significantly mutated gene by the endometrial cancer TCGA, the A track variants leading to T204 frameshifts were not reported.				BORIS	paralog	BORIS, a paralogue of the transcription factor CTCF, is a member of the cancer-testis antigen (CT) family.			
23390377	CTCF	underexpression	Ovarian Carcinoma	In contrast, CTCF is downregulated in EOC, and the ratio of BORIS sf1, sf2, and sf6 isoform families as a function of CTCF is elevated in hypomethylated tumors.				BORIS	paralog	BORIS is the only known paralog of CTCF, a gene intimately involved in genomic imprinting, chromatin insulation, and nuclear regulation.			
23007606	CTCF	mutation	Triple-Negative Breast Cancer Finding	Interestingly, covariation of CDH1, CDH3, CTCF and E2F4 was found to be associated with triple negative breast cancer and HER-2 receptor status.									
21390130	CTCF	mutation	Acute Lymphoblastic Leukemia	This identified 52 somatic non-synonymous mutations in 32 genes, many of which were novel, including the transcriptional coactivators CREBBP and NCOR1, the transcription factors ERG, SPI1, TCF4 and TCF7L2, components of the Ras signalling pathway, histone genes, genes involved in histone modification (CREBBP and CTCF), and genes previously shown to be targets of recurring DNA copy number alteration in ALL.									
27599524	DUSP1	overexpression	Breast Carcinoma	We detected that MKP-1 overexpression is a recurrent event predominantly linked to dephosphorylation of JNK with an adverse impact on relapse of the tumor and overall and disease-free survival.									
27308517	DUSP1	overexpression	Breast Carcinoma	Mitogen-activated protein kinase phosphatase 1 (MKP1 or DUSP1) is an antiapoptotic phosphatase that is overexpressed in many cancers, including breast cancer.									
26847061	DUSP1	underexpression	Oral Cavity Squamous Cell Carcinoma	Among 7 transcriptomic markers, transcript level of DUSP1 was significantly lower in OSCC patients than in controls and PMOD patients.									
25312268	DUSP1	underexpression	Head and Neck Squamous Cell Carcinoma	In this study, we found DUSP1 mRNA and protein decreased in human head and neck squamous cell carcinoma tissues compared with adjacent nontumor controls.									
24382243	DUSP1	overexpression	Pancreatic Carcinoma	Densitometric analysis with normalization to 7S revealed that the median level of MKP-1 mRNA in CP and cancerous tissues was increased by 6.2 folds(P=0.035)and 8.1 folds(P=0.016)in comparison with the median level in the normal pancreatic samples, respectively. Overexpression of MKP-1 was also found in 6 pancreatic cancer cell lines, in which the expression of MKP-1 was slightly lower in one pancreatic cancer cell line but high in the remaining 5 cell lines.									
24080497	DUSP1	underexpression; loss of expression	Prostatic Adenocarcinoma	By contrast, DUSP1 expression levels are low or even absent in high-grade prostatic intraepithelial neoplasia and prostatic adenocarcinoma samples, whereas nuclear p65/NF-κB and activated p38 MAPK are highly expressed in the same samples.									
23892499	DUSP1	overexpression	Oral Cavity Squamous Cell Carcinoma	Salivary levels of OAZ1, S100P, and DUSP1 mRNAs were significantly higher in newly diagnosed OSCC patients, compared to: (1) normal controls (p=0.003; p=0.003; and p<0.001, respectively); (2) OSCC-in-remission (p<0.001; p=0.001; and p<0.001, respectively); (3) disease-active OLP (p<0.001; p=0.016; and p<0.001, respectively); and (4) disease-inactive OLP (p=0.043; p<0.001; and p<0.001, respectively).									
23319273	DUSP1	overexpression	Castration-Resistant Prostate Carcinoma	Studies revealed that the levels of expression of genes responsible for T-cell proliferation (C-FOS, C-JUN and DUSP1) and cellular migration (RGS1) were greater in Tregs from mCRPC patients as compared to values observed in healthy donors.									
23169297	DUSP1	underexpression	Prostate Carcinoma	In a panel of 5 benign glands and 15 tumours, we observed concomitant downregulation of the negative regulators SEF and DUSP1 in tumours with increasing Gleason grade.									
22547014	DUSP1	underexpression	Breast Carcinoma	We found that total MKP-1 protein levels were decreased in 63.7 % of breast cancer tissues compared with the paired noncancerous breast tissues.									
22333693	DUSP1	underexpression	Breast Carcinoma	Our data demonstrate MKP-1 mRNA expression significantly decreased in five breast cancer cell lines compared to breast controls (P<0.01).									
21960346	DUSP1	underexpression	Lung Carcinoma	Immunohistochemistry and real-time RT-PCR assay showed that the expression of MKP-1 was gradually decreased as tissue type went from normal lung tissues to increasingly undifferentiated carcinoma, and it was negatively correlated with tumor differentiation (P<0.01).									
20682647	DUSP1	overexpression	Melanoma	MKP1 expression was detected in human melanoma cell lines and tissue samples at levels up to six times higher than those in normal or nonmalignant melanocytes.									
20234366	DUSP1	overexpression	Colorectal Carcinoma	All patients with BRAF mutations (n=3) had MKP-1 overexpression.				BRAF	correlation	All patients with BRAF mutations (n=3) had MKP-1 overexpression.			
27370960	NCOA3	overexpression	B-Cell Non-Hodgkin Lymphoma	We also verified that SRC-3 was overexpressed in B-cell NHL in both cell lines and lymph node samples from patients.									
27057633	WHSC1	mutation	GNAQ-Mutated Blue Melanocytic Neoplasm	All of the samples harbored a GNAQ mutation, exhibited RAS pathway activation, and harbored additional mutations in genes associated with genomic instability and epigenetic regulation (KMT2C, FANCD2, ATR, ATRX, NBN, ERCC2, SETD2, and WHSC1).									
24875297	NCOA3	overexpression	Chondrosarcoma	Significant higher levels of SRC-1 and SRC-3 were detected in MDC and PDC when compared to WDC.									
24584933	NCOA3	overexpression	Breast Carcinoma; Lung Carcinoma; Prostate Carcinoma; Bladder Carcinoma	Multiple studies have shown that steroid receptor coactivator-3 (SRC-3) is upregulated and promotes cell proliferation in several human cancers, including breast, lung, and prostate carcinoma. Here, we reported that overexpression of SRC-3 accelerated UBC cell growth, accompanied by the increased expression of genes involved in glycolysis.				Glut1	positive correlation	The positive correlation of expression levels between SRC-3 and Glut1 proteins was demonstrated in human UBC patient samples.			
27057633	ATRX	mutation	GNAQ-Mutated Blue Melanocytic Neoplasm	All of the samples harbored a GNAQ mutation, exhibited RAS pathway activation, and harbored additional mutations in genes associated with genomic instability and epigenetic regulation (KMT2C, FANCD2, ATR, ATRX, NBN, ERCC2, SETD2, and WHSC1).									
27080717	SIRT5	overexpression	Breast Carcinoma	In contrast, SIRT2, SIRT3, and SIRT5 genes were shown to be up-regulated in our study.									
24134957	NCOA3	overexpression	Breast Carcinoma; Prostate Carcinoma; Thyroid Gland Carcinoma; Malignant Bone Neoplasm	Previous studies have demonstrated overexpression of steroid receptor coactivator-3 (SRC-3) in many cancers, such as breast cancer, prostate cancer, thyroid cancer, functioning in the regulation of cancer cell proliferation, invasion, and metastasis. The results showed that in normal bone tissue, levels of SRC-3 are almost negative (score=0), the total positivity (score=1-3) of SRC-3 immunoreactivities in bone cancers was 74.47%.									
23650284	NCOA3	overexpression	Castration-Resistant Prostate Carcinoma; PTEN-Negative Human Prostate Cancer	We documented elevated SRC-3 in human CRPC and in PTEN-negative human prostate cancer.									
23274413	NCOA3	aberrant expression	Breast Carcinoma	These include the regulation of expression and intracellular positioning of nucleoporin and nucleophosmin; downregulation of steroid receptor coactivator-3 (SRC-3) and its downstream proteins; upregulation of death inducer-obliterator (DIO-1); downregulation of HERG potassium channel; as well as induction of reactive oxygen species (ROS) accumulation.									
22371647	NCOA3	copy number gain	Colorectal Carcinoma	Copy number gains of NCOA3 were detected in 39 CRC samples (27.5%) and were correlated with tumor progression (χ2 = 6.42, P = 0.0112).									
21647249	NCOA3	copy number gain	Breast Carcinoma	Since SRC-3 was found to be amplified in breast cancer in 1997, the role of SRC-3 in cancer has been broadly investigated.									
21601620	NCOA3	copy number gain	Breast Carcinoma	NCOA3 is a known low to moderate-risk breast cancer susceptibility gene, amplified in 5-10% and over expressed in about 60% of breast tumours.									
21454665	NCOA3	overexpression	Synovial Sarcoma	The increase of NCOA3 is essential for SYT-SSX1-mediated synovial sarcoma formation.	SYT-SSX1	positive regulation	SYT-SSX1 does so by increasing the sumoylation of NCOA3 through interaction with a SUMO E3 ligase, PIASy, as well as the sumoylation of NEMO.						
20852035	NCOA3	overexpression	Non-Small Cell Lung Carcinoma	The results showed that of these 48 cases, 18 (37.5%) exhibited high levels of SRC-3 immunoreactivity, 23 (47.9%) exhibited moderate levels of SRC-3 immunoreactivity, and 7 (14.6%) were negative; thus, the total frequency of SRC-3 overexpression was 85.4% (41/48).									
20137343	NCOA3	aberrant expression	Lung Adenocarcinoma	Overexpression of SRC-3 was found in A549 cells, whereas the SRC-3 protein and mRNA expression levels were significantly downregulated in A549 cells induced by GA in a dose-dependent manner.									
20027190	NCOA3	copy number gain	Breast Carcinoma	We review the role of steroid receptor co-activator-3 (SRC-3), which is frequently amplified in breast cancer, and its role in breast cancer risk, outcome and response to endocrine therapy in patients with breast cancer.									
27080717	SIRT3	overexpression	Breast Carcinoma	In contrast, SIRT2, SIRT3, and SIRT5 genes were shown to be up-regulated in our study.									
27701467	SMARCA4	mutation (loss of function)	Prostate Carcinoma	Further exploration of the shared variants in rest of the families revealed deleterious variants of the so-called cancer genes (ATP1A1, BRIP1, FANCA, FGFR3, FLT3, HOXD11, MUTYH, PDGFRA, SMARCA4, and TCF3).									
27656868	SMARCA4	loss of expression	Endometrial Carcinoma	SMARCA4 expression was intact in 26 of 40 (65%); lost in 13 of 40 (32.5%) cases and unassessable in 1 case (2.5%).									
27593925	SMARCA4	inactivation 	Lung Carcinoma	Components of the SWI/SNF chromatin remodeling complex, including BRG1 (also SMARCA4), are inactivated in cancer.									
27506935	SMARCA4	mutation	Breast Carcinoma	Finally, we applied RWCFusion to breast cancer and found that top 13 gene fusions, such as BCAS3-BCAS4, NOTCH-NUP214, MED13-BCAS3 and CARM-SMARCA4, have been previously proved to be drivers for breast cancer.				CARM	Fusion	Finally, we applied RWCFusion to breast cancer and found that top 13 gene fusions, such as BCAS3-BCAS4, NOTCH-NUP214, MED13-BCAS3 and CARM-SMARCA4, have been previously proved to be drivers for breast cancer.			
27471560	SMARCA4	mutation	Ovarian Small Cell Carcinoma, Hypercalcemic Type	Germline or somatic mutations in SMARCA4 in familial and sporadic small cell carcinoma of the ovary, hypercalcemia type, lead to our recognition on this rare aggressive tumor as a new entity of the atypical teratoma/rhaboid tumor family.									
27131799	BMI1	overexpression	Salivary Gland Mucoepidermoid Carcinoma	In MEC, CD44 and Bmi1 showed strong expression in all types of neoplastic cells and both markers revealed intense expression in tumour invasive front.									
27223259	SMARCA4	overexpression	Breast Carcinoma	BRG1 is a well-characterized tumor suppressor in some human cancers, but is frequently overexpressed without mutation in other cancers, including breast cancer.									
27145366	SMARCA4	underexpression	Colon Carcinoma	In a previous work, we have reported that decreased BRG1 could promote colon cancer cell migration and invasion, and that the BRG1 expression level is negatively correlated with lymphatic metastasis.									
27100627	SMARCA4	loss of expression	Ovarian Small Cell Carcinoma, Hypercalcemic Type	Fifty-four of the SCCOHT cases showed complete absence of SMARCA4 expression.									
27029062	SMARCA4	overexpression	Breast Carcinoma	BRG1 is overexpressed in most human breast cancer tumors without evidence of mutation and is required for breast cancer cell proliferation.									
26996667	SMARCA4	overexpression	Neuroblastoma	We found that the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 (SMARCA4/BRG1) was consistently upregulated in advanced stages of NB, with high BRG1 levels being indicative of poor outcome.									
26975901	SMARCA4	mutation	Ovarian Small Cell Carcinoma, Hypercalcemic Type	SCCOHT is caused by germline and somatic SMARCA4 mutations, but the effect of the mutation type on patients remains unknown.									
27131799	BMI1	overexpression	Salivary Gland Mucoepidermoid Carcinoma	The stem cell markers CD44, Bmi1, Oct4 and Nanog are frequently expressed in MEC in relation to normal salivary gland and Oct4 and Nanog expression may contribute to aggressiveness and worst prognosis in MEC patients.									
26755072	SMARCA4	genetic alteration	Atypical Teratoid/Rhabdoid Tumor	The majority of AT/RTs demonstrate genomic alterations in SMARCB1 (INI1, SNF5, BAF47) or, to a lesser extent, SMARCA4 (BRG1) of the SWItch/sucrose nonfermentable chromatin remodeling complex.									
26743474	SMARCA4	loss of expression (mutation)	Endometrial Carcinoma	Immunohistochemical analysis confirmed the loss of SMARCA4 in the undifferentiated component of these four SMARCA4-mutated cases, whereas the corresponding low-grade endometrioid component showed retained SMARCA4 expression.				SMARCB1	negative correlation	The loss of SMARCA4 or SMARCB1 was mutually exclusive.			
26664144	SMARCA4	mutation; loss of expression	Lung Carcinoma	Brahma-related gene 1 (BRG1) has been implicated in a variety of biological processes, and it has been found to be mutated or silenced in numerous cancers, including lung cancer.							miR-148b	positive regulation	Furthermore, we found that miR-148b was positively regulated by BRG1.
26646792	SMARCA4	mutation (loss of function)	Ovarian Small Cell Carcinoma, Hypercalcemic Type	We confirmed that SMARCA4 is the only recurrently mutated gene in SCCOHT, and show that recurrent allelic imbalance is observed exclusively on chromosome 19p, where SMARCA4 resides. Furthermore, we conclude that SMARCA4 inactivation is the main cause of SCCOHT, and that new distinct therapeutic approaches should be developed to specifically target this devastating tumor.									
26645725	SMARCA4	loss of expression (mutation)	Ovarian Small Cell Carcinoma, Hypercalcemic Type	Studies to date have suggested that immunohistochemical loss of expression of SMARCA4 is associated with the presence of a SMARCA4 mutation in most cases.									
26551623	SMARCA4	loss of expression	Digestive System Carcinoma	In total, 12/13 cases (92%) showed loss of at least 1 SWI/SNF component. Loss of SMARCB1 (5/13), SMARCA2 (10/13), SMARCA4 (2/13), and ARID1A (2/13) was observed either in combination or isolated.				SMARCB1	negative correlation	Co-inactivation of SMARCB1 and SMARCA4 or of SMARCA2 and SMARCA4 was not observed.			
26546963	SMARCA4	mutation	Ovarian Small Cell Carcinoma, Hypercalcemic Type	SCCOHT has recently been shown to be associated with SMARCA4 gene mutations as well as molecular and genetic similarities to malignant rhabdoid tumors (MRT).									
26473533	SMARCA4	mutation	Diffuse Large B-Cell Lymphoma; Follicular Lymphoma; Burkitt Lymphoma	Here, we discuss the function of histone acetyltransferases (CREBBP, EP300), histone methyltransferases (KDM2C/D, EZH2) and regulators of higher order chromatin structure (HIST1H1C/D/E, ARID1A and SMARCA4) that have been reported to be mutated in 5% of DLBCL, FL or BL.									
26356327	SMARCA4	mutation (loss of function)	Ovarian Small Cell Carcinoma, Hypercalcemic Type	We and others recently discovered that over 90% of SCCOHTs harbour inactivating mutations in the chromatin remodelling gene SMARCA4 with concomitant loss of its encoded protein SMARCA4 (BRG1), one of two mutually exclusive ATPases of the SWI/SNF chromatin remodelling complex.									
26123103	SMARCA4	loss of expression	Ovarian Small Cell Carcinoma, Hypercalcemic Type	All tumors showed complete loss of SMARCA4.									
25886974	SMARCA4	mutation	Ovarian Small Cell Carcinoma, Hypercalcemic Type	SMARCA4 mutations have recently been identified as driving lesions of the ovarian small cell carcinoma of hypercalcemic type (SCCHT).									
25808524	SMARCA4	overexpression	Breast Carcinoma	Here, we report that both BRG1 and BRM are overexpressed in most primary breast cancers independent of the tumor's receptor status.									
25803323	SMARCA4	mutation	Thyroid Gland Papillary Carcinoma	Using this approach we identified new missense mutations in CBL, NOTCH1, PIK3R4 and SMARCA4 genes.									
27137476	PHF6	mutation	T Acute Lymphoblastic Leukemia	RUNX1 mutations were found in 245 of 2439 (10%) patients; were almost mutually exclusive of AML with recurrent genetic abnormalities; and they co-occurred with a complex pattern of gene mutations, frequently involving mutations in epigenetic modifiers (ASXL1, IDH2, KMT2A, EZH2), components of the spliceosome complex (SRSF2, SF3B1) and STAG2, PHF6, BCOR.									
25494491	SMARCA4	mutation	Rhabdoid Tumor of the Kidney	Recently, mutations in a 2nd locus of the SWI/SNF complex, the SMARCA4 gene, also known as BRG1, were found in rhabdoid tumors with retention of SMARCB1 expression.									
25462860	SMARCA4	mutation	Gastric Carcinoma	Moreover, somatic mutations of additional chromatin remodelers, such as ARID1A, SMARCA2, and SMARCA4, were found in 30% of gastric cancers.									
27137476	ASXL1	mutation	Acute Myeloid Leukemia	RUNX1 mutations were found in 245 of 2439 (10%) patients; were almost mutually exclusive of AML with recurrent genetic abnormalities; and they co-occurred with a complex pattern of gene mutations, frequently involving mutations in epigenetic modifiers (ASXL1, IDH2, KMT2A, EZH2), components of the spliceosome complex (SRSF2, SF3B1) and STAG2, PHF6, BCOR.									
25355421	SMARCA4	loss of expression	Lung Carcinoma	In this report, we found that the loss of expression of SMARCA4 observed in some primary lung tumors, whose mechanism was largely unknown, can be explained, at least partially by the activity of microRNAs (miRNAs).									
25190313	SMARCA4	mutation	Wilms Tumor	Here we report the whole-exome sequencing of 44 Wilms tumours, identifying missense mutations in the microRNA (miRNA)-processing enzymes DROSHA and DICER1, and novel mutations in MYCN, SMARCA4 and ARID1A.									
24953335	SMARCA4	overexpression	Pancreatic Ductal Adenocarcinoma	Here, we reported that BRG1, a chromatin modulator, was exclusively overexpressed in human pancreatic ductal adenocarcinoma tissues.									
27219024	PHF1	mutation	Endometrioid Stromal Sarcoma	FISH analysis identified a known EPC1-PHF1 fusion which led to the identification of a new variant at the molecular level.				EPC1	Fusion	FISH analysis identified a known EPC1-PHF1 fusion which led to the identification of a new variant at the molecular level.			
24867287	SMARCA4	mutation	Burkitt Lymphoma	In addition, mutations in a number of genes including GNA13, TP53, and SMARCA4 occur in Burkitt lymphoma.									
24752781	SMARCA4	mutation	Ovarian Small Cell Carcinoma, Hypercalcemic Type	We conducted WES using three families with SCCOHT and identified deleterious mutations in the chromatin-remodelling gene SMARCA4 (encoding BRG1) in all cases.									
27219024	EPC1	mutation	Endometrioid Stromal Sarcoma	FISH analysis identified a known EPC1-PHF1 fusion which led to the identification of a new variant at the molecular level.				PHF1	Fusion	FISH analysis identified a known EPC1-PHF1 fusion which led to the identification of a new variant at the molecular level.			
24658004	SMARCA4	loss of expression	Ovarian Small Cell Carcinoma, Hypercalcemic Type	Protein studies confirmed loss of SMARCA4 expression, suggesting a key role for the SWI/SNF chromatin-remodeling complex in SCCOHT.									
24658002	SMARCA4	loss of expression	Ovarian Small Cell Carcinoma, Hypercalcemic Type	Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall.									
24658001	SMARCA4	mutation	Ovarian Small Cell Carcinoma, Hypercalcemic Type	We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors.									
24585446	SMARCA4	SNP	Pancreatic Carcinoma	rs11644043 in BRD7 and rs11085754 in SMARCA4 showed consistent significant association with increased risk of PC in both stages, with odds ratios (ORs) and 95% confidence interval (CI) of 2.04 (1.17-3.56) and 1.64 (1.16-2.33) in stage one, and 1.97 (1.24-3.14) and 1.45 (1.04-2.02) in stage two, respectively in a recessive model.									
24520176	SMARCA4	mutation	Lung Adenocarcinoma	Genetic alterations of the mSWI/SNF chromatin remodeling complexes are the most frequent among chromatin regulators in cancers, with BRG1/SMARCA4 mutations occurring in 10-15% of lung adenocarcinomas.									
24445599	SMARCA4	mutation	Lung Neoplasm; Non-Small Cell Lung Carcinoma	Recent sequencing efforts have shown mutations in BRG1 (SMARCA4), one of two mutually exclusive ATPase subunits in the complex, in a significant number of human lung tumor cell lines and primary non-small cell lung carcinoma (NSCLC) clinical specimens.							CDH1; CDH3; EHF; RRAD	regulation	Importantly, validation studies from multiple cell lines revealed that BRG1 reexpression led to substantial changes in the expression of CDH1, CDH3, EHF, and RRAD that commonly undergo silencing by other epigenetic mechanisms during NSCLC development.
24375037	SMARCA4	loss of expression	Ovarian Small Cell Carcinoma, Hypercalcemic Type	INI-1 expression was retained, while that of SMARCA4 was lost.									
26942101	SMARCA4	mutation (loss of function)	Ovarian Small Cell Carcinoma, Hypercalcemic Type	However, we and others have recently identified inactivating mutations in the SWI/SNF chromatin remodeling gene SMARCA4 with concomitant loss of SMARCA4 protein in the majority of SCCOHT tumors.(1-4) Here we summarize these findings and report SMARCA4 status by targeted sequencing and/or immunohistochemistry (IHC) in an additional 12 SCCOHT tumors, 3 matched germlines, and the cell line SCCOHT-1.									
23880166	SMARCA4	mutation	Atypical Teratoid/Rhabdoid Tumor	Atypical teratoid/rhabdoid tumor (AT/RT) is a rhabdoid tumor of the central nervous system comprising a mixture of small round cells and mesenchymal and/or epithelial elements, showing mutation of the SMARCB1 gene or SMARCA4 gene.									
23872584	SMARCA4	underexpression	Non-Small Cell Lung Carcinoma	Immunohistochemical analysis of a cohort of non-small-cell lung carcinomas (NSCLC) indicated that 15.5% (16 of 103) of the cohort, corresponding to preferentially undifferentiated tumors, was deficient in BRG1 expression.									
23349796	SMARCA4	overexpression	Melanoma	Immunohistochemistry showed high expression of both BRM and BRG1 in primary melanomas.									
27283500	NSD1	mutation	Thyroid Gland Follicular Carcinoma	New somatic alterations were identified in oncogenes (MDM2, FLI1), transcription factors and repressors (MITF, FLI1, ZNF331), epigenetic enzymes (KMT2A, NSD1, NCOA1, NCOA2), and protein kinases (JAK3, CHEK2, ALK).									
23163725	SMARCA4	mutation	Lung Carcinoma; Lung Adenocarcinoma	Analysis of 15 lung cancer cell lines indicated that BRG1 mutations correlated with loss of BRG1 expression and that loss of BRG1 and BRM expression was frequent in E-cadherin-low and vimentin-high cell lines. Immunohistochemical analysis of 93 primary lung adenocarcinomas showed loss of BRG1 and BRM in 11 (12%) and 16 (17%) cases, respectively.				CDH1; TTF-1; VIM	correlation	Finally, we analyzed the publicly available dataset of 442 cases and found that loss of BRG1 and BRM was frequent in E-cadherin-low, TTF-1-low, and vimentin-high cases and correlated with poor prognosis.			
23143597	SMARCA4	mutation	Burkitt Lymphoma	We identified 70 genes that were recurrently mutated in Burkitt lymphomas, including ID3, GNA13, RET, PIK3R1 and the SWI/SNF genes ARID1A and SMARCA4.									
23088494	SMARCA4	copy number loss; mutation	Hepatocellular Carcinoma	Homozygous deletion of the BRG1 gene was found in HCC cell line SNU398. Copy number losses of BRG1 and BRM genes were observed in 14 (26%) and 7 (13%) of 54 primary HCC tumours respectively. We found four somatic missense mutations in the BRG1 gene in two of 36 primary HCC tumours, but no mutations in BRM gene.									
23033341	SMARCA4	mutation; copy number change	Lung Carcinoma	A number of epigenetic regulators, including KDM6A, ASH1L, SMARCA4, and ATAD2, are frequently altered by mutations or copy number changes.									
22832583	SMARCA4	mutation	Medulloblastoma	Several recurrent mutations were identified, both in known medulloblastoma-related genes (CTNNB1, PTCH1, MLL2, SMARCA4) and in genes not previously linked to this tumour (DDX3X, CTDNEP1, KDM6A, TBR1), often in subgroup-specific patterns.									
22820256	SMARCA4	mutation	Medulloblastoma	We identified twelve genes mutated at statistically significant frequencies, including previously known mutated genes in medulloblastoma such as CTNNB1, PTCH1, MLL2, SMARCA4 and TP53.									
22722829	SMARCA4	mutation	Medulloblastoma	Recurrent mutations were detected in 41 genes not yet implicated in medulloblastoma; several target distinct components of the epigenetic machinery in different disease subgroups, such as regulators of H3K27 and H3K4 trimethylation in subgroups 3 and 4 (for example, KDM6A and ZMYM3), and CTNNB1-associated chromatin re-modellers in WNT-subgroup tumours (for example, SMARCA4 and CREBBP).									
22362300	SMARCA4	overexpression	Glioma	Our results showed that BRG1 expression was increased in benign tumor and malignant tumor compared with tumor adjacent normal brain tissue (P < 0.01 for both).									
27283500	NCOA2	mutation	Thyroid Gland Follicular Carcinoma	New somatic alterations were identified in oncogenes (MDM2, FLI1), transcription factors and repressors (MITF, FLI1, ZNF331), epigenetic enzymes (KMT2A, NSD1, NCOA1, NCOA2), and protein kinases (JAK3, CHEK2, ALK).									
21940037	SMARCA4	underexpression	Pancreatic Intraductal Papillary Mucinous Neoplasm, Pancreatobiliary-Type	Reduced Brg1 expression was observed in 32 (53.3%) of the 60 evaluable IPMN lesions and occurred more frequently in high-grade IPMNs (13 of 17 showed loss; 76%) compared to intermediate-grade (15 of 29 showed loss; 52%) and low-grade IPMNs (4 of 14 showed loss; 28%) (P = .03).									
21566516	SMARCA4	loss of expression (mutation)	Atypical Teratoid/Rhabdoid Tumor	Instead, the tumor showed loss of protein expression of another SWI/SNF chromatin-remodeling complex member, the ATPase subunit SMARCA4 (BRG1) due to a homozygous SMARCA4 mutation [c.2032C>T (p.Q678X)].									
21102582	SMARCA4	overexpression	Colorectal Carcinoma	Expression of BRG1, but not BRM, was frequently elevated in CRC specimens, and knockdown of BRG1 suppressed cell proliferation of DLD-1 cells.				CCND1	positive correlation	Interestingly, this positive correlation between BRG1 and cyclin D1 expression was also observed in CRC specimens.			
21092585	SMARCA4	overexpression	Prostate Carcinoma	The average immuno-reactive score for BRG1 expression in prostatic cancer tissues was significantly higher than that in benign prostatic tissues (57+/-9.8 and 19+/-4.1, respectively, P = 0.000 17).									
20969766	SMARCA4	overexpression	Melanoma	BRG1 mRNA levels were significantly higher in stage IV melanomas compared to stage III tumors and to normal skin.							MMP2	positive regulation	We found that BRG1 is recruited to the MMP2 promoter and directly activates expression of this metastasis associated gene.
20491765	SMARCA4	overexpression	Melanoma	We found that BRG1 expression was increased in primary melanoma and metastatic melanoma compared with dysplastic naevi (P<0·0001).									
20137775	SMARCA4	mutation	Rhabdoid Tumor	We identified inactivation of another member of the SWI/SNF chromatin-remodeling complex, its ATPase subunit SMARCA4 (also known as BRG1), due to a SMARCA4/BRG1 germline mutation and loss of heterozygosity by uniparental disomy in the tumor cells of two sisters with rhabdoid tumors lacking SMARCB1 mutations.									
27572339	KDM1A	overexpression	Breast Carcinoma	LSD1 is overexpressed in various cancers including breast cancer, but its functional roles in tumourigenesis are not fully understood.				PKCα	crucial for function	In addition, it has been reported that phosphorylation of the Serine 112 residue of LSD1 by PKCα is crucial for its function in gene regulation.	CDH1	negative regulation	LSD1 potentiates EMT in breast epithelia cells by repressing E-cadherin expression through demethylating H3K4me at gene's promoter, during which phosphorylation of LSD1 Ser112 is crucial for its binding and demethylation activity.
27349498	KDM1A	overexpression	Castration-Resistant Prostate Carcinoma	Lysine-specific demethylase 1 (LSD1 or KDM1A) overexpression correlates with poor survival and castration resistance in prostate cancer.									
27212032	KDM1A	overexpression	Breast Carcinoma	Protein expression of HDAC5 and LSD1 was significantly increased in primary breast cancer specimens in comparison with matched-normal adjacent tissues.	HDAC5	positive regulation	Overexpression of HDAC5 stabilized LSD1 protein and decreased the nuclear level of H3K4me1/me2 in MDA-MB-231 cells, whereas loss of HDAC5 by siRNA diminished LSD1 protein stability and demethylation activity.						
27058897	KDM1A	overexpression	Non-Small Cell Lung Carcinoma	Finally, high expression of KDM1A and low expression of TIMP3 significantly correlate with a poor prognosis in NSCLC patients.									
26872725	KDM1A	overexpression	Oral Cavity Squamous Cell Carcinoma	Here we sought to interrogate the oncogenic roles of LSD1 in OSCC tumorigenesis and therapeutic intervention by integrating chemical-induced OSCC model, genetic and pharmacological loss-of-function approaches.									
26848860	KDM1A	overexpression	Ewing Sarcoma	High LSD1 expression is observed in Ewing sarcoma patient samples and mechanistic and preclinical data suggest LSD1 inhibition globally disrupts the function of EWS-ETS proteins.									
26534764	KDM1A	overexpression	Prostate Carcinoma	Our data showed that LSD1 was overexpressed in human PCa specimens and in AI PCa LNCaP-AI cells, which were established through a three-month continuous culture of LNCaP cells in androgen-deprived medium.							AR signaling pathway; p53	positive regulation; negative regulation	These findings revealed that overexpression of LSD1 promoted AI transition of PCa LNCaP cells under androgen-ablated conditions via activation of the AR signaling pathway and suppression of the p53 signaling pathway.
26489763	KDM1A	overexpression	Ovarian Neoplasm	Lysine-specific demethylase 1 (LSD1/KDM1A) acts as an epigenetic regulator and is overexpressed in ovarian tumors.	EGF	positive regulation	Here, we show that epidermal growth factor (EGF) signaling upregulates LSD1 protein levels in SKOV3 and HO8910 ovarian cancer cells overexpressing both LSD1 and the EGF receptor.						
26460616	KDM1A	overexpression	Gallbladder Carcinoma	We found GBC tissues had upregulated LSD1 compared with normal gallbladder tissues (P = 0.003), and its high expression was associated with tumor-node-metastasis stage (P < 0.0001), Nevin's stage (P = 0.0093) and distant metastases (P = 0.0070).							c-myc	positive regulation	Inhibiting LSD1 expression in vitro impaired the proliferation and invasiveness of GBC cells and also downregulated c-myc expression and consequently inhibited GBC cell proliferation.
26435505	KDM1A	overexpression	Castration-Resistant Prostate Carcinoma	The results showed that LSD1 expression was up-regulated when PCa progressed to Castration Resistant Prostate Cancer (CRPC).									
26225839	KDM1A	overexpression	Oral Neoplasm	By comparing mRNA expression profiles, we identified an elevated KDM1A expression in oral tumors when compared to normal oral tissues.									
26166558	KDM1A	overexpression	Endometrial Endometrioid Adenocarcinoma	Compared with normal endometrium and benign endometrial lesion (both P < 0.001), LSD1 was overexpressed in EEA.									
25956476	KDM1A	overexpression	Ovarian Carcinoma	The positive ratio of LSD1 expression was 50% in normal ovarian epithelial tissues, 72% in serous cystadenoma, 73% in mucinous cystadenoma, 82% in borderline serous cystadenoma, 83% in borderline mucinous cystadenoma, 94% in serous cystadenocarcinoma and 92% in mucinous cystadenocarcinoma, respectively.									
25759518	KDM1A	overexpression	Neuroblastoma; Breast Carcinoma; Hepatocellular Carcinoma	Lysine-specific demethylase 1 (LSD1/KDM1A), a histone-modifying enzyme, is upregulated in many cancers, especially in neuroblastoma, breast cancer and hepatoma.									
25682387	KDM1A	overexpression	Tongue Neoplasm	Further, immunohistochemical analyses of tongue tumors induced by CAL27 and UMSCC2 cells revealed elevated expression of components of protumorigenic pathways deregulated in human cancers, including Cyclin D1, PCNA, Ki-67, LSD1, LOXL2, MT-MMP1, DPAGT1, E-cadherin, OCT4A, and H3K4me1/2.									
25679396	KDM1A	overexpression	Breast Carcinoma	In breast cancer, the significance of LSD1 overexpression is not clear.				BRCA1	negative correlation	Interestingly, we note that overexpression of LSD1 correlates with down-regulation of BRCA1 in triple negative breast cancer.			
25674267	KDM1A	overexpression	Esophageal Carcinoma	We found that the positive LSD1 immunochemical staining was predominantly observed on the nuclei and cytoplasm of esophageal cancer cells, while negative or very weak in adjacent normal tissues.									
25627913	KDM1A	overexpression	Prostate Carcinoma	LSD1 expression increased significantly in prostate cancer specimens compared with benign prostatic hyperplasia (P < 0.05).				CDH1	negative correlation	Correlation analysis revealed that LSD1 expression was negatively correlated with E-cadherin expression in prostate cancer (rs = -0.486, P = 0.001).			
25605246	KDM1A	overexpression	Prostate Carcinoma	Finally, LSD1 expression in human cancer specimens was significantly higher than that in normal prostate glands.									
25139823	KDM1A	overexpression	Breast Carcinoma	Expression of LSD1 and SIRT1, but not of HDAC2, was significantly increased in tumor tissues compared to their normal counterparts (both p < 0.001).									
25060070	KDM1A	overexpression	Colorectal Carcinoma	LSD1 expression was significantly elevated in colorectal tumor tissues compared with adjacent adenoma and normal colorectal tissues (P < 0.001), and LSD1 levels were significantly correlated with an advanced AJCC T stage (P = 0.012) and distant metastasis (P = 0.004).				LSD1; LGR5; CTNNB1; c-Myc	positive correlation	We also observed the inactivation of β-catenin/TCF signaling after CBB1003 treatment, consistent with the positive correlations among LSD1, LGR5, β-catenin and c-Myc expression in human colon tumor and adenoma tissues.			
25040359	KDM1A	overexpression	Tongue Carcinoma	Upregulated LSD1 expression was observed in tongue cancer cells and a major fraction of tongue SCC samples.				Ki-67	association	Overexpression of LSD1 significantly associated with tumor size (P = 0.0357), pathological grade (P = 0.0323), Ki-67 abundance (P = 0.0148), and reduced overall and disease-free survival (Kaplan-Meier analysis, P = 0.0351, 0.0479, respectively).			
24658378	KDM1A	overexpression	Melanoma	Overexpression of EHMT2, SETDB1, and LSD1 was observed in 14 (21%), 38 (57%), and 53 (79%) of the 67 patients, respectively.									
24561118	KDM1A	overexpression	Pancreatic Carcinoma	Our study investigated the role of LSD1 in pancreatic cancer and demonstrated that LSD1 was significantly up-regulated in pancreatic cancer patient tissue samples, and elevated LSD1 protein levels positively correlated with overall survival of pancreatic cancer patients.				HIF1α	coorperation	Mechanistically, our study demonstrated that LSD1 synergized with HIF1α (hypoxia inducible factor-1α) in maintaining glycolytic process, which fueled pancreatic cancer uncontrolled proliferation.			
24406160	KDM1A	overexpression	Neuroblastoma	Lysine-specific demethylase 1 (LSD1) is upregulated in many cancers, especially neuroblastoma.									
24252778	KDM1A	overexpression	Medulloblastoma	Re-analysis of gene expression data and immunohistochemistry of tissue microarrays of human medulloblastomas showed strong KDM1A overexpression in the majority of tumors throughout all molecular subgroups.									
24165091	KDM1A	overexpression	Ovarian Neoplasm	We found moderate but consistent LSD1 mRNA overexpression in stage IIIC and high-grade ovarian tumors.									
24068396	KDM1A	overexpression	Thyroid Gland Papillary Carcinoma	Despite the fact that both RBP2 and LSD1 expressions were higher in papillary thyroid carcinoma than in paracancerous tissues (U=-3.855, p=0.000; U=-5.575, p=0.000) and thyroid adenoma (U=-1.972, p=0.049; U=-3.190, p=0.001), they did not show us statistical correlation (r=-0.149, p=0.270).									
24064254	KDM1A	overexpression	Bladder Carcinoma	It has also been found that LSD1 expression is elevated in clinical bladder cancer tissues compared with in normal tissues, and LSD1 knock down could significantly result in the suppression of bladder cancer cell line proliferation.									
23922913	KDM1A	overexpression	Colorectal Carcinoma	The results showed that in 19 paired samples (86.4%), LSD1 is more highly expressed in tumor tissue than in normal tissue.				CTNNB1	positive correlation	As DKK1 was the gene with the most significant differential expression, we analyzed the key proteins of the DKK1-related Wnt/β-catenin signaling pathway and found that, after knocking out LSD1, the amount of free β-catenin translocated to the nucleus was significantly reduced and that the transcription of the signaling pathway target gene c-Myc was down-regulated.	c-Myc	positive regulation	As DKK1 was the gene with the most significant differential expression, we analyzed the key proteins of the DKK1-related Wnt/β-catenin signaling pathway and found that, after knocking out LSD1, the amount of free β-catenin translocated to the nucleus was significantly reduced and that the transcription of the signaling pathway target gene c-Myc was down-regulated.
23900215	KDM1A	overexpression	Colon Carcinoma	Lysine-specific demethylase 1 was upregulated in colon cancer tissues, and the high LSD1 expression was significantly associated with tumour-node-metastasis (TNM) stages and distant metastasis.									
23816987	KDM1A	overexpression	Neuroblastoma	LSD1 expression was higher in NB compared to GNB, and LSD1 overexpression directly correlated with Bcl-2 expression and inversely correlated with Bax expression.				Bcl-2; Bax	positive correlation; negative correlation	LSD1 expression was higher in NB compared to GNB, and LSD1 overexpression directly correlated with Bcl-2 expression and inversely correlated with Bax expression.			
23747727	KDM1A	overexpression	Esophageal Squamous Cell Carcinoma	Here, we reported that LSD1 expression was elevated in cancerous tissue and correlated with lymph node metastasis and poorer overall survival in patients with ESCC.									
23400681	KDM1A	overexpression	Neuroblastoma	The histone demethylase, lysine-specific demethylase 1 (KDM1A, previously known as LSD1), is strongly expressed in neuroblastomas, and overexpression correlates with poor patient prognosis.	miR-137	negative regulation	KDM1A mRNA was repressed by miR-137 in neuroblastoma cells, and was validated as a direct target of miR-137 using reporter assays in SHEP and HEK293 cells.						
23384557	KDM1A	overexpression	Prostate Carcinoma	LSD1 is overexpressed in numerous cancers including prostate cancer through an unknown mechanism.							VEGF-A; PSA; Tmprss2	positive regulation	We show that functional depletion of LSD1 expression using siRNA in prostate cancer cells decreases VEGF-A and blocks androgen induced VEGF-A, PSA and Tmprss2 expression.
23314859	KDM1A	overexpression	Colon Carcinoma	LSD1 was significantly more highly expressed in colon cancer specimens classified as high TNM stage lesions and with distant metastasis (P < 0.05).				CDH1	negative correlation	Correlation analysis revealed that LSD1 expression was negatively correlated with E-cadherin expression (r s = -0.318, P = 0.001), but not evidently correlated with N-cadherin expression (r s = 0.182, P = 0.06).			
23248157	KDM1A	overexpression	Glioma	KDM1 was overexpressed in gliomas and its expression positively correlated with histological malignancy.									
23236241	KDM1A	overexpression	Hepatocellular Carcinoma	Immunohistochemistry, Western blotting, and qRT-PCR consistently confirmed LSD1 overexpression in HCC tissues compared to adjacent non-neoplastic tissues (P < 0.01).									
23015317	KDM1A	overexpression	Hepatocellular Carcinoma	Immunohistochemistry and Western blotting consistently confirmed LSD1 overexpression in HCC tissues compared with adjacent non-neoplastic tissues (P<0.01).							BRCA1	negative regulation	Consistent with recent studies describing correlative associations in basal-like breast cancers between Wnt signaling, increased Slug levels, and reduced expression of the tumor suppressor Breast Cancer 1, Early Onset (BRCA1), further studies demonstrate that Slug-as well as Snail-directly represses BRCA1 expression by recruiting the chromatin-demethylase, LSD1, and binding to a series of E-boxes located within the BRCA1 promoter.
22920283	KDM1A	overexpression	High Grade Ductal Breast Carcinoma In Situ	Interestingly, LSD1 was significantly overexpressed in high grade DCIS versus low grade DCIS.									
22493729	KDM1A	overexpression	Non-Small Cell Lung Carcinoma	LSD1 expression was higher in lung cancer tissue more than in normal lung tissue.									
22169281	KDM1A	aberrant expression	Acute Leukemia	In 72 AL patients, LSD1 expression levels were quite different. LSD1 positive rate was 56.9% (41/72), average relative amount was 1.053 ± 1.976. In 17 controls, LSD1 positive rate was 0%, relative amount was 0.004 ± 0.012.									
21975933	KDM1A	overexpression	Testicular Seminoma	In support of these results, we found that LSD1 protein level is highly elevated in pluripotent cancer cells and in human testicular seminoma tissues that express Oct4.									
21805138	KDM1A	overexpression	Breast Carcinoma	Additionally, LSD1 is highly expressed in estrogen receptor α negative (ER-) breast cancer cells.									
21400613	KDM1A	overexpression	Bladder Carcinoma	JMJD2A and AR levels were significantly lower in malignant versus benign urothelium, while increased LSD1 levels were observed in malignant urothelium relative to benign.									
20333681	KDM1A	overexpression	Bladder Carcinoma	Expression levels of LSD1 are significantly elevated in human bladder carcinomas compared with nonneoplastic bladder tissues (p < 0.0001).									
27718152	BMI1	underexpression	Skin Basal Cell Carcinoma	We demonstrate downregulation of BMI1 mRNA expression in BCC samples compared with controls (p=0.0001), SCC (p=0.001), and melanoma (p=0.0001) samples.									
27612478	BMI1	overexpression	Lip and Oral Cavity Carcinoma	These tumors exhibited increased expression of CSC markers (CD44v3, CD44v6, Nanog, and Bmi1) and significantly reduced expression of PTEN and ATM in OSCC patients.									
27166996	BMI1	overexpression	Gastric Carcinoma	We additionally found that decreased miR-338-5p expression in GC tissues, relative to normal tissues, was significantly negatively correlated with increased BMI1 expression.				miR-338-5p	negative correlation	We additionally found that decreased miR-338-5p expression in GC tissues, relative to normal tissues, was significantly negatively correlated with increased BMI1 expression.			
27283500	NCOA1	mutation	Thyroid Gland Follicular Carcinoma	New somatic alterations were identified in oncogenes (MDM2, FLI1), transcription factors and repressors (MITF, FLI1, ZNF331), epigenetic enzymes (KMT2A, NSD1, NCOA1, NCOA2), and protein kinases (JAK3, CHEK2, ALK).									
26935956	BMI1	overexpression	Plasma Cell Myeloma	The polycomb complex protein BMI-1 (BMI-1) is a putative oncogene reported to be overexpressed in multiple myeloma (MM).									
26919246	BMI1	overexpression	Hepatocellular Carcinoma	By contrast, BMI1 was significantly overexpressed in 66.7% of HCC tissues.	miR-200b	negative regulation	A luciferase reporter assay was used to validate BMI1 as a direct target of microRNA-200b. Furthermore, microRNA-200b was activated in HCC cells after treatment with 5-azacytidine, whereas BMI1 expression was clearly downregulated.						
27311324	ATRX	loss of expression	Glioma	Among 196 glial tumors with nuclear ATRX loss, 173 (89%) had an IDH1 or IDH2 mutation.				IDH1/2; H3F3A mutation	association	 ATRX loss in astrocytomas was also strongly associated with IDH1/2 and H3F3A mutation (p<0.0001).			
26690524	BMI1	overexpression	Glioblastoma	Overexpression of CD133 mRNA and BMI1 protein was found in 47.6 and 76.2% patients respectively and TP53 mutations was seen in 57.1% of patients in our study.There was no correlation among TP53 mutations and expressions of CD133 and BMI1.									
26500029	BMI1	overexpression	Bladder Carcinoma	BMI1 was found to be overexpressed in most UC cell lines and primary tumors by quantitative real-time polymerase chain reaction and immunohistochemistry.									
26137120	BMI1	overexpression	Non-Small Cell Lung Carcinoma	miR-203 was demonstrated to act as a tumor suppressor by regulating the expression of Bmi1. miR-203 expression levels were downregulated in NSCLC tissues while Bmi1 expression was upregulated in NSCLC tissues and cell lines.	miR-203	negative regulation	miR-203 was demonstrated to act as a tumor suppressor by regulating the expression of Bmi1. miR-203 expression levels were downregulated in NSCLC tissues while Bmi1 expression was upregulated in NSCLC tissues and cell lines.						
26109429	BMI1	mutation	Colorectal Carcinoma	Ten significantly mutated genes, including BMI1, CARD11, and NRG1, were found in 34 CRCs with CLMs.									
25999024	BMI1	overexpression	Esophageal Squamous Cell Carcinoma	The BMI1 mRNA expression levels were markedly increased and negatively correlated with the miR-218 expression level in the ESCC tissues.				miR-218	negative correlation	The BMI1 mRNA expression levels were markedly increased and negatively correlated with the miR-218 expression level in the ESCC tissues.			
25968877	BMI1	overexpression	Gastric Carcinoma	But high Bmi1 expression was significantly correlated with the clinical stage (pooled OR=3.04, 95%CI=1.31-7.07, P=0.010, random effect), tumor size (pooled OR=2.01, 95%CI=1.14-3.55, P=0.016, random effect), T classification (pooled OR=2.79, 95%CI=1.94-4.03, P<0.001, fixed effect), lymph node metastasis (pooled OR=2.24, 95%CI=1.47-3.39, P<0.001, random effect) and distant metastasis (pooled OR=5.05, 95%CI=1.29-19.70, P=0.020, random effect), and led to a poor overall survival (OS) in GC patients (RR=3.38, 95%CI=2.43-4.69, P<0.001, fixed effect).									
25858624	BMI1	overexpression	Glioma	The BMI1 mRNA in glioma was remarkably up-regulated, 176.3% as much as that in peri-cancerous tissues (P<0.05).									
25826085	BMI1	underexpression	Breast Carcinoma	Expression of CSC markers, ALDH1, BMI1 and Nanog was decreased.									
25722013	BMI1	underexpression	Parathyroid Gland Neoplasm	Impaired expression of the histone methyltransferases EZH2, BMI1, and RIZ1 have been described in parathyroid tumors.									
25526772	BMI1	overexpression	Glioma	Our investigation revealed BMI1 over-expression in 29 of 54 (53.7%) pediatric gliomas, 8 of 8 (100%) patient derived orthotopic xenograft (PDOX) mouse models, and in both CD133+ and CD133- glioma cells.									
25475727	BMI1	aberrant expression	Melanoma	We found significantly deregulation of miR-203 and up-regulation of BMI1 in melanoma, particularly in metastatic melanoma.	miR-203	negative regulation	We also identified BMI1 as a downstream target gene of miR-203, which bound to the 3'UTR of BMI1. Overexpression of miR-203 was associated with decreased BMI1 expression and impaired cell invasion and tumor sphere formation activities.						
25471937	BMI1	overexpression	Head and Neck Squamous Cell Carcinoma	Populations of enriched CSC-like cells displayed decreased levels of pSMAD1/5/8 and BMP signaling target gene ID1 while SMURF1, CD44, and BMI1 were highly expressed when compared to non-CSC populations.									
25348805	BMI1	overexpression	Ductal Breast Carcinoma In Situ	We found Bmi1 overexpression in 64% of grade III invasive ductal breast adenocarcinomas compared to normal breast tissues.									
25286028	BMI1	overexpression	Tongue Carcinoma	Our data revealed that Bmi1 was aberrantly overexpressed in a significant portion of tongue cancers.									
25285018	BMI1	overexpression	Ovarian Carcinoma	In univariate survival analysis of the ovarian carcinoma cohorts, a significant association of intensive expression of BMI1 and EZH2 in first-onset lymph node metastases with shortened PFS was demonstrated (P=0.010, P=0.019); and a significant association of intensive expression of BMI1 and EZH2 in recurrent tumors with shortened OS was demonstrated (P=0.042, P=0.047).									
25084695	BMI1	overexpression	Acute Myeloid Leukemia; Chronic Myelogenous Leukemia, BCR-ABL1 Positive	The results showed that the expression of BMI1 was significantly higher in AML and CML versus control subjects (p<0.001 for both).									
25054051	BMI1	overexpression	Colorectal Carcinoma	Bmi1 is overexpressed in gastrointestinal cancers, including colorectal cancer (CRC); however, its role as a non-invasive biomarker in CRC has not been established.									
25013381	BMI1	overexpression	Pancreatic Ductal Adenocarcinoma	We predicted Bmi1 may be a target of miR-135a using bioinformatics tools and found that Bmi1 expression was markedly up-regulated in PDAC.									
24982332	BMI1	overexpression	Head and Neck Squamous Cell Carcinoma	The mRNA levels of CDK4, cyclin D1, gankyrin, SEI1, BMI1 were significantly elevated in both HARM and SCCHN (in comparison with control specimens), and statistically significant correlations were found among these markers in gene expression.									
24909638	BMI1	overexpression	Pancreatic Intraductal Papillary-Mucinous Neoplasm with High Grade Dysplasia; Pancreatic Intraductal Papillary-Mucinous Neoplasm with an Associated Invasive Carcinoma	Positive expression of Twist and Bmi1 was observed in 40.0% and 42.9% of IPMNs, respectively. Twist and Bmi1 expression was significantly higher in IPMNs with high-grade dysplasia (P<0.05) and invasive carcinoma (P<0.05) than that in IPMNs with low-grade dysplasia.									
24719948	BMI1	overexpression	Hepatocellular Carcinoma with Bile Duct Tumor Thrombi	Immunohistochemical staining for Bmi1 showed Bmi1 was highly expressed in the B+ group in comparison with the C+ group and the V+ group, respectively.									
24375660	BMI1	overexpression	Thymic Lymphoma	Furthermore, the BMI1 expression level was up-regulated and inversely correlated with miR-200c in RITL samples.	miR-200c	negative regulation	Taken together, we conclude that down-regulated expression of miR-200c and up-regulation of its direct target BMI1 in radiation-induced thymic lymphoma, which may indicate a novel therapeutic method for RITL through induction of miR-200c or inhibition of BMI1.						
24337040	BMI1	overexpression	Bladder Carcinoma	The mRNA expression of Bmi1 was upregulated in SP cells when compared with that in the NSP cells.									
24312366	BMI1	overexpression	Malignant Digestive System Neoplasm	Bmi1 is overexpressed in a variety of human cancers including gastrointestinal cancer.	miR-30e*	negative regulation	Luciferase assays using miR-30e* mimic revealed that Bmi1 was a direct target for miR-30e* by interactions with the putative miR-30e* binding sites in the Bmi1 3' untranslated region. qRT-PCR analysis of resected cancer specimens showed that miR-30e* expression was downregulated in tumor regions compared with non-tumor regions, and Bmi1 expression was inversely correlated with miR-30e* expression in gastric cancer tissues, but not in colon cancer tissues.						
24302590	BMI1	overexpression	Head and Neck Squamous Cell Carcinoma	Moreover, BMI1 was highly expressed in both SCCHN and HARM, and BMI1 overexpression was associated with p16 downregulation in SCCHN (P<0.05).							p16; p14	negative regulation	These results indicate that RD deletion and BMI1 overexpression frequently occur in the early stage of oral carcinogenesis and BMI1 overexpression may downregulate the transcription of p16 and p14 through interfering with RD.
24139839	BMI1	overexpression	Glioma	Both Bmi1 and EZH2 expressions in glioma tissues were significantly higher than those in corresponding nonneoplastic brain tissues (both P<0.001).									
24122997	BMI1	overexpression	Oral Squamous Cell Carcinoma	EZH2 and BMI1 protein were up-regulated in OSCC tissues compared with epithelial dysplasia and normal epithelium.									
23873108	BMI1	underexpression	Ductal Breast Carcinoma In Situ	BMI1 gene was co-regulated (down) with PR in the invasive ductal breast carcinoma with relative progression explicating it a diagnostic biomarker for ductal carcinoma of the breast.				PR	co-regulation	BMI1 gene was co-regulated (down) with PR in the invasive ductal breast carcinoma with relative progression explicating it a diagnostic biomarker for ductal carcinoma of the breast.			
23864317	BMI1	aberrant expression	Non-Small Cell Lung Carcinoma	Bmi1 was expressed in 78/80 (97.5%) cases of non-small-cell lung cancer and correlated with male gender and expression of Gli1.									
23686310	BMI1	aberrant expression	Mantle Cell Lymphoma	In this study, we show that recurrent MCL cases significantly exhibit upregulation of BMI1/Bmi1.	miR-16	regulation	On screening for upstream regulators of BMI1, we found that expression of microRNA-16 (miR-16) was downregulated in MCL SP cells by regulating Bmi1 in the SPs, leading to reductions in tumor size following lymphoma xenografts.						
23639414	BMI1	overexpression	Oral Squamous Cell Carcinoma	The results showed that Bmi1 expression was observed in 32 (36.8%) of 87 cases of nonprogressing OLP and in 8 (88.9%) of 9 cases of progressing OLP. Bmi1 was not expressed in normal oral mucosa, but it was positively expressed in the 6 (100%) cases of OSCC.									
23603912	BMI1	mutation	T Acute Lymphoblastic Leukemia	In addition to mutations in genes known to be involved in leukemogenesis (ETV6, NOTCH1, JAK1, and NF1), we identified novel recurrent mutations in FAT1 (25%), FAT3 (20%), DNM2 (35%), and genes associated with epigenetic regulation (MLL2, BMI1, and DNMT3A).									
23512250	BMI1	SNP	Acute Lymphoblastic Leukemia	A novel ALL susceptibility locus at 10p12.31-12.2 (BMI1-PIP4K2A, rs7088318, P = 1.1 × 10(-11)) was identified in the genome-wide association study, with independent replication in European Americans, African Americans, and Hispanic Americans (P = .001, .009, and .04, respectively).									
23471304	BMI1	overexpression	Myelodysplastic Syndrome	BMI1 overexpression was observed in CD34(+) cells from the majority of MDS patients with RUNX1 mutations, but not in D171N-transduced human CD34(+) cells.									
23437065	BMI1	overexpression	Pancreatic Carcinoma	Bmi1 was overexpressed in human PanINs, pancreatic cancers, and in several pancreatic cancer cell lines.									
23138990	BMI1	overexpression	Hepatocellular Carcinoma	We found that Bmi1 was much more highly expressed in HCC tissue compared to normal liver tissue.									
23132836	BMI1	overexpression	Malignant Glioma	Bmi1, a key component of the Polycomb Repressive Complex 1, is highly expressed in undifferentiated neural stem cells (NSC) as well as in several human cancers including high-grade gliomas--highly aggressive brain tumors.									
23046527	BMI1	aberrant expression	Esophageal Squamous Cell Carcinoma	Among 78 ESCC patients, 24 patients (30.8%) showed BMI1 positivity, mainly localised in the nuclei of tumour cells.									
22766604	BMI1	overexpression	Esophageal Squamous Cell Carcinoma	Bmi1 and EZH2 were more highly expressed in tumor than in adjacent normal tissue (p<0.001).									
22730165	BMI1	overexpression	Laryngeal Squamous Cell Carcinoma	High BMI1 expression was detected in 11.7% of glottic tumors and in 50% of supraglottic tumors.									
22574128	BMI1	overexpression	Pituitary Gland Adenoma	Human pituitary adenomas show Bmi1 overexpression in over 50% of the cases, which indicates that Bmi1 could be causally involved in formation of these tumors similarly as in our mouse model.									
22265735	BMI1	aberrant expression	Glioblastoma	We find that Bmi1 expression is increased in CD133- cells, and Bmi1 protein and transcript expression are highest during intermediate stages of differentiation as CD133+ BTICs lose their CD133 expression.				CD133	negative correlation	We find that Bmi1 expression is increased in CD133- cells, and Bmi1 protein and transcript expression are highest during intermediate stages of differentiation as CD133+ BTICs lose their CD133 expression.			
22120066	BMI1	overexpression	Myelodysplastic Syndrome	In this study, we reported that overexpression of BMI1 protein was detected in MDS patients, and inversely correlated with the apoptosis of CD34+ cells.							p16; phospho-p53; CASP3; CASP9	negative regulation	Overexpression of BMI1 antagonised apoptosis by downregulating several apoptosis-related proteins, such as p16(INK4a), phospho-p53 (Ser46) and caspase 3/9.
21866458	BMI1	overexpression	Colorectal Carcinoma	The positive rate of Bmi1 expression in colorectal cancer tissues was 56.5%(48/85), significantly higher than that in the adjacent noncancerous tissues[17.6%(15/85), P<0.05)].									
21856782	BMI1	overexpression	Neuroblastoma	The BMI1 gene is overexpressed in �?90% of human neuroblastomas.	N-myc; MYC	positive regulation	Overexpression of MYCN or MYC transactivated the BMI1 promoter and up-regulated BMI1 gene expression.						
21755556	BMI1	aberrant expression	Laryngeal Squamous Cell Carcinoma	BMI1 was highly enriched in CD133+ cells. 				CD133	positive correlation	BMI1 was highly enriched in CD133+ cells.			
21482478	BMI1	overexpression	Laryngeal Squamous Cell Carcinoma	BMI1 was highly expressed in laryngeal SCCs.									
21165554	BMI1	aberrant expression	Esophageal Squamous Cell Carcinoma	Aberrant EZH2 and BMI1 protein expression was observed in 19 (14.0%) and 23 (16.9%), respectively, of the 136 ESCCs.									
20600931	BMI1	overexpression	Medulloblastoma	Overexpression of Bmi1 has been described in medulloblastoma, highly aggressive brain neoplasms of childhood, which are thought to originate from deregulated proliferation of granule cell precursors.									
20426791	BMI1	overexpression	Pancreatic Carcinoma	In the present study, we demonstrated that expression of BMI1 was markedly up-regulated in pancreatic cancer cell lines and surgically resected cancer specimens.									
20170541	BMI1	overexpression	Gastric Carcinoma	BMI1 was found to be overexpressed in gastric cancer cell lines and gastric tumors.				Mel-18	negative correlation	Overexpression of BMI1 correlated with advanced clinical stage and lymph node metastasis; while the expression of Mel-18 negatively correlated with BMI1.			
27758882	IDH1	mutation	Low Grade Glioma	Mutations in the isocitrate dehydrogenase gene IDH1 are common in lower-grade glioma where they result in the production of 2-hydroxyglutarate (2HG), disrupted patterns of histone methylation and gliomagenesis.				ATRX; TERT	correlation	IDH1 mutations also co-segregate with mutations in the ATRX gene and the TERT promoter, suggesting that IDH mutation may drive the creation or selection of telomere-stabilizing events as part of immortalization/transformation process.			
27568035	IDH1	mutation	Low Grade Glioma	In a validation study, ZEB1 mRNA was significantly increased in IDH1-mutant grades II-III gliomas, and ZEB1 protein expression was more pronounced in these tumors.				ZEB1; miR-200C	correlation	ZEB1 expression is increased in IDH1-mutant lower-grade gliomas. Similarly, IDH1/2-mutant tumors expressed significantly higher levels of targets of microRNA 200C (MIR200C), a key regulator of ZEB1.			
27735988	IDH1	mutation	Acute Myeloid Leukemia	FLT3/TKD mutations were found in 7%, while IDH1 mutations were found in 10% Pakistani AML patients.				FAB	association	IDH1 mutations were positively associated with FAB type M1 and negatively associated with FAB type M2.			
27664011	IDH1	mutation	Glioma	Mutant isocitrate dehydrogenase 1 (IDH1) is common in gliomas, and produces D-2-hydroxyglutarate (D-2-HG).									
27621679	IDH1	mutation	Low Grade Glioma; Glioblastoma, IDH-Mutant; Chondrosarcoma; Intrahepatic Cholangiocarcinoma; Hematopoietic and Lymphoid Cell Neoplasm	IDH1/2 mutations define distinct subsets of cancers, including low-grade gliomas and secondary glioblastomas, chondrosarcomas, intrahepatic cholangiocarcinomas, and hematologic malignancies.									
27460417	IDH1	mutation	Glioma	The majority of low-grade and secondary high-grade gliomas carry heterozygous hotspot mutations in cytosolic isocitrate dehydrogenase 1 (IDH1) or the mitochondrial variant IDH2.									
27460275	IDH1	mutation	Cholangiocarcinoma	Finally, in somatic mutation analysis, tumor-normal paired 14 tissue and 6 bile samples were analyzed, genomic alterations of EGFR, FGFR1, ABL1, PIK3CA, and CDKN2A gene were seen in the diffusely infiltrating type CC, and TP53, KRAS, APC, GNA11, ERBB4, ATM, SMAD4, BRAF, and IDH1 were altered in the mass-forming type CC group.									
27311324	IDH1	mutation	Glioma	Among 196 glial tumors with nuclear ATRX loss, 173 (89%) had an IDH1 or IDH2 mutation.									
27355333	IDH1	mutation (gain of function)	Glioma; Acute Myeloid Leukemia; Cholangiocarcinoma; Chondrosarcoma	Recurrent mutations in IDH1 or IDH2 are prevalent in several cancers including glioma, acute myeloid leukemia (AML), cholangiocarcinoma and chondrosarcoma. The mutated IDH1 and IDH2 proteins have a gain-of-function, neomorphic activity, catalyzing the reduction of α-ketoglutarate (α-KG) to 2-hydroxyglutarate (2-HG) by NADPH.									
27334978	IDH1	mutation	Glioma	Mutations in the IDH1/2 genes are central to gliomagenesis in a high proportion of grade II and III gliomas, and ongoing trials are examining vaccines against IDH1, small molecular inhibitors of IDH1 and IDH2, and metabolic components including NAD+ depletion to target IDH-mutated gliomas.									
27339451	SMARCC1	loss of expression	Urothelial Carcinoma	SMARCA2 was most frequently lost (six) followed by ARID1A (four), SMARCB1/INI1 (two), SMARCA4 (one), and SMARCC1 (one).									
27292784	IDH1	mutation (gain of function)	Low Grade Glioma; Leukemia	Genetic gain-of-function mutations in IDH1 and IDH2 confer a neomorphic activity that allow reduction of α -KG to (R)-2- hydroxyglutarate, the accumulation of which results in the development of cancers like low grade gliomas and leukemia.									
27245697	IDH1	mutation	Low Grade Glioma; Glioblastoma, IDH-Mutant	Mutations in isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) are frequent in low-grade gliomas and secondary glioblastomas (sGBM).									
27231123	IDH1	mutation	Intrahepatic Cholangiocarcinoma	Intrahepatic cholangiocarcinoma (ICC) is an aggressive liver bile duct malignancy exhibiting frequent isocitrate dehydrogenase (IDH1/IDH2) mutations.									
27144334	IDH1	mutation	Low Grade Glioma	Mutations in isocitrate dehydrogenase 1 (IDH1) are characteristic of low-grade gliomas.									
27005468	IDH1	mutation	Glioma; Acute Myeloid Leukemia; Myelodysplastic Syndrome	Isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are key metabolic enzymes, converting isocitrate to α-ketoglutarate (αKG).IDH1 and IDH2 mutations have been identified in multiple tumor types, including gliomas and myeloid malignancies such as acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS).									
26990854	IDH1	mutation	Astrocytoma; Glioblastoma, IDH-Mutant	Even though an IDH1 or IDH2 mutation is found in the majority of WHO grade II and III astrocytomas, and in secondary glioblastomas arising from them, such mutations were not identified in our series, suggesting that these tumors are molecularly different from their central nervous system counterparts despite their morphologic and immunophenotypic similarities.									
26943899	IDH1	mutation	Acute Myeloid Leukemia	They then show that elevated levels of 2-HG are correlated with mutations in IDH1 and IDH2 in AML patient samples (Figure 5).				2-HG	correlation	They then show that elevated levels of 2-HG are correlated with mutations in IDH1 and IDH2 in AML patient samples (Figure 5).			
26927556	IDH1	mutation	Glioma; Glioblastoma, IDH-Mutant	The mutant rates of IDH1 were about 50%-60% in grade II-III gliomas and secondary glioblastomas, which were significantly higher than those in pilocytic astrocytoma (grade I) and primary glioblastoma (grade IV).				Ki-67	positive correlation	Moreover, the level of IDH1 (R132H) protein was positively correlated with Ki-67 labeling index and microvessel density.			
26920730	IDH1	mutation	Intrahepatic Cholangiocarcinoma	In the tumor sample, we identified a recurrent somatic IDH1-mutation affecting Arg132, while in normal liver tissue and peripheral blood, no variants were detected, as expected.									
26880370	IDH1	mutation	Adult T-Cell Leukemia/Lymphoma	Here we used whole genome next generation sequencing (NGS) of uncultured freshly isolated ATL samples and identified the presence of mutations in SUZ12, DNMT1, DNMT3A, DNMT3B, TET1, TET2, IDH1, IDH2, MLL, MLL2, MLL3 and MLL4.									
26858939	IDH1	mutation	Glioblastoma, IDH-Mutant	One of the exciting observations is the presence of IDH1 mutation in the vast majority of secondary glioblastoma, while it is almost absent in primary glioblastoma.									
26819452	IDH1	mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma; Intrahepatic Cholangiocarcinoma	IDH1 and IDH2 are homodimeric enzymes that catalyze the conversion of isocitrate to α-ketoglutarate (α-KG) and concomitantly produce reduced NADPH from NADP(+) Mutations in the genes encoding IDH1 and IDH2 have recently been found in a variety of human cancers, most commonly glioma, acute myeloid leukemia (AML), chondrosarcoma, and intrahepatic cholangiocarcinoma.									
26788176	IDH1	mutation	Glioblastoma	The 19 samples were molecularly characterized for mutations in the isocitrate dehydrogenase 1 (IDH1) gene, amplification of the epidermal growth factor receptor (EGFR) gene, presence of the EGFR variant III, and methylation of the promoter region of the O(6)-methylguanine-DNA methyltransferase (MGMT) gene.									
26695622	IDH1	mutation	Low Grade Glioma	The authors recently found that 80% of lower-grade gliomas (LGGs) harbored a mutation in IDH1.									
26617922	IDH1	mutation	Angioimmunoblastic T-Cell Lymphoma	Angioimmunoblastic T-cell lymphoma (AITL) is an aggressive peripheral T-cell lymphoma with mutations in genes encoding isocitrate dehydrogenase1 and 2 (IDH1 and IDH2).									
26544944	IDH1	mutation	Prostate Carcinoma	Our results revealed a molecular taxonomy in which 74% of these tumors fell into one of seven subtypes defined by specific gene fusions (ERG, ETV1/4, and FLI1) or mutations (SPOP, FOXA1, and IDH1).									
26524018	IDH1	mutation	Acute Myeloid Leukemia	Among the 192 AML patients, 13 cases were detected with IDH1 gene mutation, the mutation rate was 6.77% [95% CI (5.70%-13.38%)].									
26493382	IDH1	mutation	Glioma	Genetic studies of GC have to date been restricted to the analysis of individual glioma-associated genes, which revealed mutations in the isocitrate dehydrogenase 1 (IDH1) and tumor protein p53 (TP53) genes in subsets of patients.									
26485760	IDH1	mutation	Glioma	As the most frequent mutation, IDH1(R132H) has been served as a predictive marker of glioma patients.									
26436839	IDH1	mutation	Acute Myeloid Leukemia	Neomorphic mutations in isocitrate dehydrogenase 1 (IDH1) are driver mutations in acute myeloid leukemia (AML) and other cancers.									
26427041	IDH1	mutation	Recurrent Glioblastoma	The frequency of IDH1 mutations in recurrent glioblastomas was nearly twice that in primary glioblastomas.									
26381180	IDH1	mutation	Glioma	Isocitrate dehydrogenase 1 (IDH1) mutations have been detected in gliomas and other tumors.									
26375248	IDH1	mutation	Acute Myeloid Leukemia with Variant MLL Translocations	66% of patients had gene mutations involving epigenetic regulation, and DNMT3A (32.7%), IDH2 (18.4%), TET2 (18.4%), and IDH1 (10.2%) mutations were most common.									
26366867	IDH1	mutation	Glioblastoma	MGMT gene methylation was found in 42 (39.2%) cases, and IDH1 mutation was found in 6 (5.5%) cases.									
26337623	IDH1	mutation	Glioma	Isocitrate dehydrogenase 1 (IDH1) mutation is an important prognostic marker in glioma.									
26331834	IDH1	mutation	Acute Myeloid Leukemia; Myelodysplastic Syndrome; Chronic Myelomonocytic Leukemia	Over a 6-month period of clinical testing with a targeted next-generation sequencing assay, we evaluated 92 patients with acute myeloid leukemia, myelodysplastic syndrome, and chronic myelomonocytic leukemia and identified a subset of 21 patients (23%) who harbored mutations in either IDH1 or IDH2.									
26324126	IDH1	mutation	Glioblastoma, IDH-Mutant; Low Grade Glioma	Mutations in isocitrate dehydrogenase 1 (IDH1) are found in >70% of secondary glioblastomas and lower-grade gliomas (grades II-III).									
26320466	IDH1	underexpression	Cholangiocarcinoma	In human cases, expression of HGD, IDH1 and IDH2 was decreased more than 2 fold in 55 cases (70.5%), 25 cases (32.1%) and 24 cases (30.8%) respectively.									
26315110	IDH1	mutation	Small Intestinal Adenocarcinoma	Next-generation sequencing identified novel mutations in IDH1, CDH1, KIT, FGFR2, FLT3, NPM1, PTEN, MET, AKT1, RET, NOTCH1 and ERBB4.									
26303387	IDH1	mutation	Low Grade Glioma	Somatic mutations in the isocitrate dehydrogenase 1 or 2 (IDH1/IDH2) genes were detected in 96% of LGO and 91% of LGA.									
26297251	IDH1	mutation	Brain Stem Glioma	Interestingly, the K27M mutation was mutually exclusive with mutations in IDH1, which was detected only in brainstem gliomas.				K27M	mutual exclusive	Interestingly, the K27M mutation was mutually exclusive with mutations in IDH1, which was detected only in brainstem gliomas.			
26280302	IDH1	mutation	Glioma	Somatic mutations of isocitrate dehydrogenase 1 (IDH1) at R132 are frequently found in certain cancers such as glioma.									
26276726	IDH1	mutation	Low Grade Glioma	A mutation in isocitrate dehydrogenase-1 (IDH1) was found in 72.9% of LGG, and this mutation was positively correlated with methylation of O6-methylguanine-DNA methyltransferase (MGMT) (p=0.02).									
27339451	SMARCA4	loss of expression	Urothelial Carcinoma	SMARCA2 was most frequently lost (six) followed by ARID1A (four), SMARCB1/INI1 (two), SMARCA4 (one), and SMARCC1 (one).									
26190195	IDH1	mutation	Low Grade Glioma	IDH1 or 2 mutations co-existed in lower-grade gliomas with NF1 loss (36%) but not in GBM.				NF1	correlation	IDH1 or 2 mutations co-existed in lower-grade gliomas with NF1 loss (36%) but not in GBM.			
26189213	IDH1	mutation	Acute Myeloid Leukemia	IDH1 mutations were detected in 18 of 211 AML patients (8.5%) in the form of 8 cases, R132H; 6 cases, R132C; 2 cases, R132S; 1 case, R132G; and 1 case, R132V mutations).									
26162041	IDH1	mutation	Chondrosarcoma	Mutation of IDH1 was found with a high frequency (5 of 7 cases, 71.4%), of which R132S was most frequently mutated.									
26113877	IDH1	mutation	Acute Myeloid Leukemia; Breast Carcinoma	The extent of intron retention correlated with the presence of IDH1 and IDH2 mutations in acute myeloid leukemia and across molecular subtypes in breast cancer.									
26046462	IDH1	mutation	Enchondroma	Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a somatic mosaic fashion in patients with multiple enchondromas.									
26016821	IDH1	mutation	Acute Myeloid Leukemia	A total of 826 patients treated from 2010 to 2014 at a single institution were evaluated, including 167 patients (20%) with AML and IDH1 or IDH2 mutations.									
25980633	IDH1	mutation	Glioma	The isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes mutate frequently in gliomas, and it has become increasingly apparent that IDH mutation status accounts for much of the prognostic information previously rendered by histological grading.									
25975377	IDH1	mutation	Diffuse Astrocytoma	The majority of diffusely infiltrating astrocytomas regardless of WHO grade have concurrent mutations of IDH1 or IDH2, TP53 and ATRX.									
25960387	IDH1	mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma; Cholangiocarcinoma	Since the initial discovery of mutations in the isocitrate dehydrogenase 1 (IDH1) gene in a large subset of human low-grade gliomas and acute myelogenous leukemia (AML), much interest focused on the function of IDH1 and on the relationship between mutations in IDH1 and tumor progression. To date, mutations in the IDH1 gene have been found in numerous cancers with the highest frequencies occurring in gliomas, chondrosarcomas/enchondromas and cholangiocarcinomas.									
25956465	IDH1	mutation	Acute Myeloid Leukemia; Low Grade Glioma; Chondrosarcoma	Specific point mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) occur in a variety of cancers, including acute myeloid leukemia (AML), low-grade gliomas, and chondrosarcomas.									
25921144	IDH1	mutation	Glioma	Isocitrate dehydrogenase 1(IDH1) mutation is crucial to glioma.									
25849072	IDH1	mutation	Low Grade Glioma	The R132H mutation of cytosolic isocitrate dehydrogenase (IDH1) is present in the majority of low grade gliomas.Immunotherapy in these tumors has an interesting, still unexploited, therapeutic potential, as they are less immunosuppressive than glioblastomas.									
25795706	IDH1	mutation	Acute Myeloid Leukemia	IDH1 and IDH2 mutations occur frequently in acute myeloid leukemia (AML) and other cancers.									
25656989	IDH1	mutation	Gastric Carcinoma	R132H and R132C missense mutations in the IDH1 gene were observed, and are the first reported mutations of their kind in gastric carcinoma.									
25651001	IDH1	mutation	Acute Myeloid Leukemia	Mutations in IDH1 and IDH2 occur in 15-20% of AML cases, resulting in the production of 2-hydroxyglutarate, which promotes aberrant hypermethylation of DNA in leukemic cells.									
25648524	IDH1	mutation	Primary Central Chondrosarcoma	Although the mutation frequency of IDH1 was low, we confirm the supposed relationship with central chondrosarcoma.									
25567592	IDH1	mutation	Astrocytoma	The rates of IDH1 mutation and MGMT expression in astrocytomas were 62.7% (30/48) and 47.9% (23/48), respectively.				MGMT	negative correlation	There was a negative correlation between IDH1 mutation and MGMT expression (r = -0.641, P < 0.01).			
26948489	IDH1	mutation	Glioblastoma	Somatic mutations in IDH1 and IDH2 are described in glioblastomas (GBMs).									
25536104	IDH1	genetic alteration	Intrahepatic Cholangiocarcinoma	IDH1 and DNA repair gene alterations occurred more frequently in intrahepatic CCA, while ERBB2 GAs occurred in the extrahepatic group.									
25495392	IDH1	mutation	Glioma	Mutations in two isocitrate dehydrogenase (IDH) genes, IDH1 and IDH2, commonly occur in low-grade gliomas and secondary high-grade gliomas, but are rare in primary GBMs.									
25486927	IDH1	mutation	Glioblastoma; Acute Myeloid Leukemia	Mutations of isocitrate dehydrogenase isoform 1 and 2 (IDH1 and IDH2) genes have been identified in glioblastoma and acute myeloid leukemia (AML).									
25471051	IDH1	mutation	Glioma	Mutations in isocitrate dehydrogenase 1 (IDH1) have been found in the vast majority of low grade and progressive infiltrating gliomas and are characterized by the production of 2-hydroxyglutarate from α-ketoglutarate.									
25455102	IDH1	mutation	Glioblastoma, IDH-Wildtype	IDH1 mutations were detected in 5 of 40 primary glioblastomas (12,5%).									
25434382	IDH1	mutation	Glioblastoma, IDH-Mutant; Low Grade Glioma	Mutations in the metabolic enzyme glioblastomas (IDH1) represent a distinguishing feature of low-grade gliomas and secondary GBMs.									
25398940	IDH1	mutation	Acute Myeloid Leukemia	Mutations of IDH1 and IDH2, which produce the oncometabolite 2-hydroxyglutarate (2HG), have been identified in several tumors, including acute myeloid leukemia.									
25398843	IDH1	mutation	Low Grade Glioma	Recent examples such as the identification of mutations in IDH1 and IDH2 as an early genetic event that is predominantly in lower-grade gliomas (grades 2 and 3) underscore the importance of molecular discovery leading to the ability to develop subclassifications with prognostic and potentially therapeutic implications.									
25331842	IDH1	mutation	Primary Central Chondrosarcoma	Recently, mutations in isocitrate dehydrogenase-1 (IDH1) and isocitrate dehydrogenase-2 (IDH2) were identified in central chondrosarcomas.									
25324168	IDH1	mutation	Glioma	In gliomas, IDH mutations uniformly occur in the functionally critical arginine 132 residue (R132) of IDH1 and arginine 172 residue (R172) of IDH2.									
25261925	IDH1	mutation	Glioma	155 patients had a mutation of IDH1. p53 was graded in 4 degrees (0:92 cases, 1:52 cases, 2:31 cases, 3:8 cases).									
25256166	IDH1	mutation	Glioblastoma	We also included IDH1, IDH2, PTEN, TP53 and NRAS, genes that are known to be mutated at considerable frequencies in glioblastoma.									
25243911	IDH1	mutation	Low Grade Glioma	Over 70% of low-grade gliomas carry a heterozygous R132H mutation in the gene coding for isocitrate dehydrogenase 1 (IDH1).									
25043048	IDH1	mutation	Glioma	More than 70% of diffuse grade II and grade III gliomas carry the most frequent mutation, IDH1(R132H) (ref. 3).									
25043045	IDH1	mutation	Intrahepatic Cholangiocarcinoma	Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are among the most common genetic alterations in intrahepatic cholangiocarcinoma (IHCC), a deadly liver cancer.									
25029120	IDH1	mutation	Intestinal Type Adenocarcinoma	All IDH mutations were identified in IDH1 and resulted in substitution of arginine by cysteine at position 132 (p.R132C, c.394C>T).				KRAS	association	IDH1 mutations were frequently (66%) associated with concurrent KRAS mutations (p.G12D, c.35G>A).			
25024164	IDH1	genetic alteration	Primary Central Chondrosarcoma	Epigenetic regulators (IDH1 and YEATS2) and an activin/BMP signal component (ACVR2A) were recurrently altered.									
27359055	ASXL1	mutation	Acute Myeloid Leukemia	We selected 19 significantly-mutated genes in AMLs, including FLT3, DNMT3A, NPM1, TET2, RUNX1, CEBPA, WT1, IDH1, IDH2, NRAS, ASXL1, SETD2, PTPN11, TP53, KIT, JAK2, KRAS, BRAF and CBL, and performed massively parallel sequencing for 114 patients with acute myeloid leukemias, mainly including those with normal karyotypes (CN-AML).									
24986689	IDH1	mutation	Acute Myeloid Leukemia	Patients with acute myeloid leukemia (AML) frequently harbor mutations in genes involved in the DNA (hydroxy)methylation pathway (DNMT3A, TET2, IDH1, and IDH2).									
24932255	IDH1	mutation	Astrocytoma	A total of 111 IDH1 mutations at codon 132 (57.5%) and six IDH2 mutations at codon 172 (3.1%) were detected.									
24889502	IDH1	mutation	Glioma	Mutations in isocitrate dehydrogenase genes IDH1 or IDH2 are frequent in glioma, and IDH mutation status is a strong diagnostic and prognostic marker.									
24880135	IDH1	mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma; Intrahepatic Cholangiocarcinoma; Angioimmunoblastic T-Cell Lymphoma	Mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are key events in the development of glioma, acute myeloid leukemia (AML), chondrosarcoma, intrahepatic cholangiocarcinoma (ICC), and angioimmunoblastic T-cell lymphoma.									
24868540	IDH1	mutation	Glioblastoma	IDH1 mutations were detected in 13 and IDH2 mutation in one patient.				TP53	correlation	Sixty-four percent of IDH1/IDH2 mutated tumours harboured also a mutation in TP53 gene.			
24760710	IDH1	mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma; Cholangiocarcinoma; Breast Adenocarcinoma	Mutations in the IDH1 and IDH2 (isocitrate dehydrogenase) genes have been discovered across a range of solid-organ and hematologic malignancies, including acute myeloid leukemia, glioma, chondrosarcoma, and cholangiocarcinoma. We describe the first reported case of an IDH1 p.R132L mutation in a patient with hormone receptor-positive (HR+) breast adenocarcinoma.									
24747768	IDH1	mutation	Glioblastoma, IDH-Mutant; Low Grade Glioma	One such difference concerns mutations in the NADP(+)-dependent isocitrate dehydrogenase (IDH1 and IDH2) genes, which occur in >80% of cases of low grade glioma and secondary glioblastoma.									
24680178	IDH1	mutation	Chondrogenic Neoplasm	Recently mutations in IDH1 and IDH2 have been detected in a variety of benign and malignant cartilaginous tumors.(1-4.)									
27359055	IDH1	mutation	Acute Myeloid Leukemia	We selected 19 significantly-mutated genes in AMLs, including FLT3, DNMT3A, NPM1, TET2, RUNX1, CEBPA, WT1, IDH1, IDH2, NRAS, ASXL1, SETD2, PTPN11, TP53, KIT, JAK2, KRAS, BRAF and CBL, and performed massively parallel sequencing for 114 patients with acute myeloid leukemias, mainly including those with normal karyotypes (CN-AML).									
24598642	IDH1	mutation	Acute Myeloid Leukemia	The incidence of IDH1 mutation was 6.4% (25/389) .				NPM1	positive correlation	The incidences of FLT3-ITD and IDH1 mutation were significantly higher in AML with NPM1 mutation than that in AML without NPM1 mutation.			
24565682	IDH1	mutation	Acute Myeloid Leukemia	The frequency of IDH1 mutations was 13%.									
24532263	IDH1	mutation	Astrocytoma	This study identified the expression of KIAA1549-BRAF fusion gene and BRAF V600E mutation, mutations at exon 4 of the IDH1 and IDH2 genes in samples of pilocytic astrocytomas (PA) and grade-II astrocytomas (A-II) pediatric patients.									
24531386	IDH1	mutation	Glioma; Acute Myeloid Leukemia	Recent studies have identified prevalent isocitrate dehydrogenase 1 (IDH1) codon 132 mutations (p.R132) in gliomas and acute myeloid leukemia (AML).									
24529257	IDH1	mutation	Glioma	In gliomas, the frequency of IDH1 mutations in codon 132 increases in the order R132L-R132S-R132G-R132C-R132H with R132H constituting more than 90% of all IDH1 mutations.									
24478380	IDH1	mutation	Intrahepatic Cholangiocarcinoma	Mutations in the IDH1 and IDH2 (IDH1/2) genes occur in approximately 20% of intrahepatic cholangiocarcinoma and lead to accumulation of 2-hydroxyglutarate (2HG) in the tumor tissue.				2HG	correlation	Mutations in the IDH1 and IDH2 (IDH1/2) genes occur in approximately 20% of intrahepatic cholangiocarcinoma and lead to accumulation of 2-hydroxyglutarate (2HG) in the tumor tissue.			
24473683	IDH1	mutation (gain of function)	Glioma	Point mutation of amino acid arginine 132 to histidine (R132H) in the IDH1 protein leads to an enzymatic gain-of-function and is thought to promote gliomagenesis.				CRYAB	positive correlation	αB-crystallin proteins are elevated up to 22-fold in IDH1(R132H) mutant tumors, and αB-crystallin expression appears to be controlled at the post-translational level.			
24460285	IDH1	mutation	Glioma	In conclusion, IDH1 mutations are quite frequent in Indian glioma patients while IDH2 mutations are not observed.									
27388964	BRD4	overexpression	Glioblastoma	BRD2 and BRD4, members of the BET family, are significantly increased in glioblastoma multiforme (GBM), the most common primary adult brain cancer.									
24376688	IDH1	mutation	Acute Myeloid Leukemia; Myelodysplastic Syndrome; Myeloproliferative Neoplasm	Mutations in the gene encoding isocitrate dehydrogenease 1 (IDH1) occur in various hematopoietic tumors including acute myeloid leukemia (AML), myeloproliferative neoplasms and myelodysplastic syndromes.									
24368190	IDH1	underexpression	Osteosarcoma	Here, IDH1 was found lower expressed in osteosarcoma tissues than that of adjacent normal bone tissues.									
24324372	IDH1	mutation	Low Grade Glioma	IDH1 mutation was detected in 46 (76.7%) patients, among which 14 patients had no epilepsies and 32 patients had epilepsies (P = 0.023, chi-square test).									
27388964	BRD2	overexpression	Glioblastoma	BRD2 and BRD4, members of the BET family, are significantly increased in glioblastoma multiforme (GBM), the most common primary adult brain cancer.									
24309525	IDH1	mutation	Acute Myeloid Leukemia	Specific combinations of mutations, including FLT3 and IDH1/IDH2/TET2, frequently co-occur in acute myeloid leukemia (AML) and are associated with poor prognosis.									
24295421	IDH1	mutation	Glioma; Acute Myeloid Leukemia	Somatic mutations in genes encoding IDH1 and IDH2 were first identified in glioma and subsequently in acute myeloid leukemia and other solid tumors.									
27392123	ARID1B	mutation	Leukemia	Seven of the 240 patients were identified to have ZNF384 gene rearrangements including partner genes TCF3 (four patients), EWSR1 (one patient), EP300 (one patient), and the novel gene partner ARID1B (one patient).				ZNF384	Fusion	Seven of the 240 patients were identified to have ZNF384 gene rearrangements including partner genes TCF3 (four patients), EWSR1 (one patient), EP300 (one patient), and the novel gene partner ARID1B (one patient).			
24149775	IDH1	mutation	Anaplastic Glioma	A total of 108 and 3 patients harbored IDH1 and IDH2 gene mutation, respectively.									
24129546	IDH1	mutation	Glioblastoma	IDH1 mutation was detected in ten (14.9 %) cases.									
24077826	IDH1	mutation	Glioma	In intermediate grade gliomas, IDH1 mutation is found in over 70% of tumors.									
24065766	IDH1	mutation (gain of function)	Chondrosarcoma	More than 50% of patients with chondrosarcomas exhibit gain-of-function mutations in either isocitrate dehydrogenase 1 (IDH1) or IDH2.									
24046070	IDH1	overexpression	Non-Small Cell Lung Carcinoma	We previously showed that isocitrate dehydrogenase 1 (IDH1) is significantly increased in NSCLC tumors.									
24045501	IDH1	mutation	Myelodysplastic Syndrome	TET2, DNMT3A, IDH1/IDH2, ASXL1, CBL, RAS and SF3B1 mutations were found in 18, 9, 8, 26, 3, 2 and 13% of patients, respectively.									
24019001	IDH1	mutation (gain of function)	Glioblastoma, IDH-Mutant; Low Grade Glioma	Gain-of-function mutations of the isocitrate dehydrogenase 1 (IDH1) gene are among the most prevalent in low-grade gliomas and secondary glioblastoma.									
24004584	IDH1	mutation	Glioma	(1) By IDH1 heterozygous somatic mutation analysis, Arg132His (c: G395A) was found in 31.6% (74 of 234) of the cases.									
23996483	IDH1	mutation	Myelodysplastic Syndrome	Among the 168 de novo myelodysplastic syndrome patients, the frequency of TET2, IDH1, and IDH2 mutations was 18.5%, 4.2% and 6.0%, respectively.									
23954893	IDH1	mutation	Glioma; Acute Myeloid Leukemia; Melanoma; Thyroid Gland Carcinoma; Chondrosarcoma	Mutations in the metabolic enzymes isocitrate dehydrogenase 1 (IDH1) and 2 (IDH2) are frequently found in glioma, acute myeloid leukemia (AML), melanoma, thyroid cancer, and chondrosarcoma patients.									
23949315	IDH1	mutation	Acute Myeloid Leukemia	NADP-dependent enzyme isocitrate dehydrogenase (IDH) mutations, IDH1 and IDH2, have been described in acute myeloid leukemia (AML) using next generation sequencing approaches.									
23934769	IDH1	mutation	Astrocytoma	Wild-type (WT) IDH1 was detected in cases with a World Health Organization (WHO) grade I astrocytoma. The IDH1 c.G395A; p.R132H mutation was observed in 56 and 94% of grade II and grade III astrocytoma cases, respectively.									
23877318	IDH1	mutation	Astrocytoma; Oligoastrocytoma; Oligodendroglioma; Glioblastoma, IDH-Mutant	IDH1 and IDH2 are mutated in 50%-80% of astrocytomas, oligodendrogliomas, oligoastrocytomas, and secondary glioblastomas but are seldom mutated in primary glioblastomas.									
23840696	IDH1	mutation	Glioma	IDH1/IDH2 mutation was detected in 32 primary tumors, with 25 low-grade gliomas and 6 anaplastic gliomas harboring IDH1 mutation and 1 low-grade glioma harboring IDH2 mutation.									
23826216	IDH1	mutation	Glioma	In the primary tumors we identified 12 patients (57.1%) with 1p36 deletions, 17 (81.0%) with 19q13 deletions, 9 (42.9%) with 1p36/19q13 codeletions, 11 (52.3%) with 9p22 deletions, and 12 (57.1%) with IDH1 mutation.									
23796461	IDH1	mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma; Cholangiocarcinoma; Angioimmunoblastic T-Cell Lymphoma	Heterozygous mutations in catalytic arginine residues of isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) are common in glioma, acute myeloid leukemia, chondrosarcoma, cholangiocarcinoma, and angioimmunoblastic T-cell lymphoma.									
23770606	IDH1	mutation	Chondrosarcoma	Recent work has identified frequent, recurrent mutations in IDH1 or IDH2 in nearly half of central chondrosarcomas.									
23745251	IDH1	mutation	Astrocytoma	There were 43 (19.3%) IDH1 mutations in 217 specimens, of which 9 (24.3%) in WHO grade III, 34 (18.9%) in WHO grade IV.									
23711013	IDH1	mutation	Glioblastoma	The occurrence frequency of these molecular markers in long-term survivors was PTEN (13/15), IDH1 (13/15), IDH1 mutation (12/15), P53 (8/15), P53 mutation (7/15), EGFR (6/15), MGMT (4/15) and NF-1 (3/15).									
23681562	IDH1	mutation	Anaplastic Oligodendroglioma	IDH1/IDH2 mutations occurred in 23/43 (54 %) patients: 20/43 IDH1-R132H mutation in IHC, 2/43 IDH1-R132G mutation and 1/43 IDH2-R172K mutation identified by DNA sequencing.									
23598960	IDH1	mutation	Chondrogenic Neoplasm; Chondrosarcoma	Cartilaginous neoplasms have recently been shown to frequently (56%) harbor gene mutations in the metabolic enzymes isocitrate dehydrogenase 1 (IDH1) and IDH2 (IDH1>IDH2), whereas other mesenchymal tumors lack these genetic aberrations. No osteosarcomas (0/36) and 61% of chondrosarcomas (14/23) harbored a somatic mutation in IDH1/2, with the majority (86%) of mutations found in the IDH1 gene.									
23581583	IDH1	mutation	Glioblastoma, IDH-Mutant; Low Grade Glioma	Isocitrate dehydrogenase 1 (IDH1) mutations have been discovered to be frequent and highly conserved in secondary glioblastoma multiforme and lower-grade gliomas.									
23541771	IDH1	mutation	Glioblastoma, IDH-Mutant; Glioma	The isocitrate dehydrogenase 1 (IDH1) mutation occurs in high frequency in glioma and secondary glioblastoma (GBM).									
23485734	IDH1	mutation	Spindle Cell Hemangioma	In conclusion, 20 of 28 (71%) SCHs harbored mutations in exon 4 of IDH1 or IDH2.									
23485467	IDH1	mutation	Glioma; Acute Myeloid Leukemia; Chondrogenic Neoplasm	Isocitrate dehydrogenase 1 (IDH1) mutations occur in gliomas, acute myeloid leukemias, and cartilaginous tumors.									
23451940	IDH1	mutation	Glioma	An IDH1 mutation was detected by molecular genetics in 37% (21/57) of cases and no IDH2 mutations were detected.									
23442355	IDH1	mutation	Glioblastoma, IDH-Mutant; Glioma	Isocitrate dehydrogenase 1 (IDH1) gene mutations occur in ~ 60 - 90% of diffuse and anaplastic gliomas and secondary glioblastomas.									
23432648	IDH1	mutation	Glioblastoma, IDH-Mutant; Astrocytoma; Oligodendroglioma	The first of these enzymes is isocitrate dehydrogenase 1 (IDH1), which is mutated in secondary glioblastomas and ~70% of grade II/III astrocytomas and oligodendrogliomas.									
23410661	IDH1	mutation	Low Grade Glioma	IDH1 mutations were detected in 27 (77.1%) of 37 patients with LGG.									
23373447	IDH1	mutation	Glioblastoma, IDH-Mutant; Low Grade Glioma	The IDH1 mutations are present in the vast majority of low-grade gliomas and secondary glioblastomas.									
23361281	IDH1	altered expression	Glioma	DA, OLIG and GBM showed IDH1 expression in 17/40 (42.5%), 5/22 (22.7%) and 7/72 (9.7%) cases, respectively.									
23330999	IDH1	mutation	Glioma	Conversely, IDH1/IDH2 mutations were found in all 11 (100%) of the insular Grade II gliomas but only 20 (55%) of 36 paralimbic Grade II gliomas (p = 0.008).									
23307057	IDH1	mutation	Glioblastoma, IDH-Mutant; Glioma	Mutations in isocitrate dehydrogenase -1 or -2 (IDH1 or IDH2) are found in the majority of WHO grade II and III diffuse gliomas and secondary glioblastomas.									
23257422	IDH1	mutation	Acute Myeloid Leukemia	The results showed that IDH1 mutation was detected in 9 (4.39%) of 205 AML patients.									
23242283	IDH1	mutation	Glioblastoma, IDH-Mutant	Glioblastomas with a proneural expression signature are characterized by frequent IDH1 mutations (i.e. genetic hallmarks of secondary glioblastomas) and PDGFRA (platelet-derived growth factor receptor-�? amplification.									
23235339	IDH1	mutation	Astrocytoma; Prostate Carcinoma	IHC detected the IDH1 mutation in 72% (13/18) anaplastic astrocytomas and 30% (3/10) astrocytomas; however, it failed to detect the mutation in 258 thyroid, 11 renal cell, 10 ovarian, 18 endometrial, 20 breast, 25 colorectal, 22 non-small cell lung carcinoma, 25 melanomas, and 8 thyroid follicular adenomas. In contrast, expression of the IDH1 mutation was noted in 3 of 118 (2.5%) prostate carcinomas.									
23232569	IDH1	mutation	Chondrogenic Neoplasm; Glioma; Leukemia	Heterozygous hotspot mutations in isocitrate dehydrogenases (IDH) IDH1 or IDH2 are frequently observed in specific types of cartilaginous tumors, gliomas, and leukemias.									
23209033	IDH1	mutation	Glioblastoma, IDH-Mutant	Decisive genetic signposts of secondary glioblastoma are IDH1 mutations, which are absent in primary glioblastomas and which are associated with a hypermethylation phenotype.									
23184331	IDH1	mutation	Glioma; Acute Myeloid Leukemia	The IDH1 gene, which encodes isocitrate dehydrogenase 1, is frequently mutated in gliomas and acute myeloid leukemia.									
23115158	IDH1	mutation	Glioma	Mutations in isocitrate dehydrogenase 1 (IDH1) or 2 (IDH2) are found in a subset of gliomas.									
23109653	IDH1	mutation	Glioma	The recent discovery of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) mutations in glioma has provided reproducible prognostic biomarkers and novel therapeutic targets.									
23096133	IDH1	loss of expression	Anaplastic Pleomorphic Xanthoastrocytoma	All tumors were IDH1 immunonegative.									
23090985	IDH1	mutation	Low Grade Glioma	The majority of lower-grade gliomas express IDH1(R132), whereas this mutation is rare in grade IV gliomas.									
23074281	IDH1	mutation	Acute Myeloid Leukemia	Mutations of genes encoding isocitrate dehydrogenase (IDH1 and IDH2) have been recently described in acute myeloid leukemia (AML).									
23072665	IDH1	mutation	Glioma	Mutations in isocitrate dehydrogenase 1 (IDH1) are found in a high proportion of glial tumors and have a significant prognostic impact.									
23071355	IDH1	mutation	Leukemia; Glioma; Prostate Carcinoma; Colon Carcinoma; Thyroid Gland Carcinoma; Sarcoma	Isocitrate dehydrogenase (IDH1/2) mutations have been found in leukemias, gliomas, prostate cancer, colon cancer, thyroid cancer, and sarcomas.									
23064941	IDH1	mutation	Diffuse Glioma; Diffuse Astrocytoma; Anaplastic Astrocytomas; Oligodendroglioma; Oligoastrocytoma; Anaplastic Oligodendroglioma; Glioblastoma	A mutation in isocitrate dehydrogenase 1 (IDH1), the enzyme involved in lipid metabolism and glucose sensing, has been identified in a variety of diffuse gliomas. Staining of mutant IDH1 was positive in nine neoplastic lesions (3 diffuse astrocytomas, 2 anaplastic astrocytomas, and 1 oligodendroglioma, oligoastrocytoma, anaplastic oligodendroglioma, and glioblastoma); it was negative in all ten non-neoplastic lesions.									
23039322	IDH1	mutation	Acute Myeloid Leukemia	IDH1(mut) and IDH2(mut) were mutually exclusive, detected in 8.5% and 7.5% of cases, respectively.				IDH2	mutual exclusive	IDH1(mut) and IDH2(mut) were mutually exclusive, detected in 8.5% and 7.5% of cases, respectively.			
23011765	IDH1	mutation	Glioma	IDH1 mutations, especially R132H mutation of IDH1, are a common feature of a major subset of human gliomas.									
22945948	IDH1	mutation	Glioblastoma, IDH-Mutant; Low Grade Glioma	Mutations in isocitrate dehydrogenase 1 (IDH1) and associated CpG island hypermethylation represent early events in the development of low-grade gliomas and secondary glioblastomas.				RBP1	correlation	IDH1/IDH2 mutation was highly correlated with RBP1 hypermethylation (n = 198; Spearman R = 0.94, 95% confidence interval = 0.92 to 0.95, P < .001).			
27451434	ARID4B	overexpression	Brain Neoplasm	ARID4B overexpression presented in most of PBTs, rather than non-neoplastic brain tissue, and correlated with WHO grades in meningiomas and gliomas									
22925884	IDH1	mutation	Glioma	Isocitrate dehydrogenase-1 (IDH1) R132 mutations occur in glioma, but their physiological significance is unknown.									
22922798	IDH1	mutation	Glioblastoma; Oligodendroglioma; Astrocytoma	A recurrent mutation affecting codon 132 of the isocitrate dehydrogenase 1 (IDH1) gene has been found in ~5% of primary glioblastomas (GBMs), but in >70% of secondary GBMs or oligodendroglial and astrocytic tumors.									
22917530	IDH1	mutation	Acute Myeloid Leukemia	IDH1/IDH2 mutations are heterozygous, and their combined frequency is approximately 17% in unselected acute myeloid leukemia cases, 27% in cytogenetically normal acute myeloid leukemia cases, and up to 67% in acute myeloid leukemia cases with cuplike nuclei.									
22904127	IDH1	mutation	Glioblastoma, IDH-Mutant; Low Grade Glioma	IDH1 mutations are frequent genetic alterations in low-grade diffuse gliomas and secondary glioblastoma (GBM).									
22890969	IDH1	mutation	Low Grade Glioma	Although IDH mutations (IDH1 or IDH2) are recorded in up to 85 % of low-grade gliomas, IDH negative gliomas do occur.									
22885298	IDH1	mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma	Frequent somatic hotspot mutations in isocitrate dehydrogenase 1 (IDH1) have been identified in gliomas, acute myeloid leukemias, chondrosarcomas, and other cancers, providing a likely avenue for targeted cancer therapy.									
22824796	IDH1	mutation	Glioma; Myeloid Leukemia; Thyroid Gland Carcinoma; Intrahepatic Cholangiocarcinoma	Mutations in the genes encoding isocitrate dehydrogenase, IDH1 and IDH2, have been reported in gliomas, myeloid leukemias, chondrosarcomas and thyroid cancer. We discovered IDH1 and IDH2 mutations in 34 of 326 (10%) intrahepatic cholangiocarcinomas.				5hmC; 5mC; H3K79	correlation	Tumor with mutations in IDH1 or IDH2 had lower 5-hydroxymethylcytosine and higher 5-methylcytosine levels, as well as increased dimethylation of histone H3 lysine 79 (H3K79).			
22821382	IDH1	mutation	Diffuse Glioma; Glioblastoma, IDH-Mutant	Somatic mutations of the isocitrate dehydrogenase-1 gene (IDH1), most commonly resulting in replacement of arginine at position 132 by histidine (p.R132H), have been reported for WHO grade II and III diffuse gliomas and secondary glioblastomas.									
22809434	IDH1	mutation	Acute Lymphoblastic Leukemia	The frequency of the IDH1 mutation in adult ALL was 5.5%.									
22785212	IDH1	mutation	Diffuse Glioma; Glioblastoma, IDH-Mutant	IDH1 and IDH2 mutations are frequent in diffuse grade II and grade III gliomas and in secondary glioblastomas.									
22781800	IDH1	mutation	Acute Myeloid Leukemia	The mutations of IDH1 and IDH2 gene at exon 4, NPM1 gene at exon 12 and FLT3-ITD at exon 14 and 15 in 163 newly diagnosed AML patients were detected by PCR amplification followed by direct sequencing of genomic DNA.									
22772731	IDH1	mutation	NCI CTEP SDC Astrocytoma, Low Grade Sub-Category Terminology	IDH1 mutations occurred frequently in low grades of astrocytoma.									
22748659	IDH1	mutation	Glioma	Unlike previously discovered prognostic molecular characteristics, IDH1 mutations were found across gliomas of many different grades and histologies.									
22712628	IDH1	mutation	Acute Myeloid Leukemia; Myelodysplastic Syndrome	Recent findings of mutated IDH1, IDH2, DNMT3A or TET2 in myelodysplastic syndrome/acute myeloid leukaemia patients underscore this notion, and point to the importance of epigenetic changes for developing tumour cells.									
22658276	IDH1	mutation	Acute Myeloid Leukemia	Of these, 42% harbored multiple mutations primarily involving NPM1 with NRAS, KRAS, CEBPA, PTPN11, IDH1, or FLT3.									
22616558	IDH1	mutation	Acute Myeloid Leukemia	Recurrent mutations of isocitrate dehydrogenase isoforms 1 and 2 (IDH1 and IDH2) have recently been studied in adult patients with acute myeloid leukemia (AML).									
22528790	IDH1	mutation	Astrocytoma; Oligodendroglioma; Glioblastoma, IDH-Mutant	Mutations in the gene encoding isocitrate dehydrogenase 1 (IDH1) have been identified in approximately 70-80 % of astrocytomas and oligodendrogliomas of WHO grades II and III, and in secondary glioblastomas.									
22520341	IDH1	mutation	Acute Myeloid Leukemia	IDH1 or IDH2 mutations were identified in 23.3% AML cases and in 22.5% of those with a normal karyotype.									
22447191	IDH1	mutation	Glioma	Previous studies have identified mutations of the isocitrate dehydrogenase 1 (IDH1) gene in more than 70% of World Health Organization (WHO) grade II and III gliomas.									
22445362	IDH1	mutation	Glioma; Glioblastoma, IDH-Mutant	Mutations of isocitrate dehydrogenase-1 gene (IDH1), most commonly resulting in replacement of arginine at position 132 by histidine (R132H), have been described in World Health Organization grade II and III diffuse gliomas and secondary glioblastoma.									
22399191	IDH1	mutation	Astrocytoma; Oligoastrocytoma; Oligodendroglioma; Glioblastoma, IDH-Mutant	The isocitrate dehydrogenase 1 (IDH1) or 2 (IDH2) genes are mutated in 50-80% of astrocytomas, oligodendrogliomas or oligoastrocytomas of grades II and III, and secondary glioblastomas; they are, however, seldom mutated in primary glioblastomas and never in other types of glioma.									
22397365	IDH1	mutation	Brain Neoplasm; Acute Myeloid Leukemia	Acquired somatic mutations of IDH1 and IDH2 have recently been reported in some types of brain tumors and a small proportion of acute myeloid leukemia (AML) cases.									
22396072	IDH1	mutation	Astrocytoma; Oligoastrocytoma; Oligodendroglioma; Glioblastoma, IDH-Mutant	Isocitrate dehydrogenase 1 (IDH1) mutations, which are early and frequent genetic alterations in astrocytomas, oligodendrogliomas, oligoastrocytomas, and secondary glioblastomas, are specific to arginine 132 (R132).									
22392125	IDH1	mutation	Glioma	Mutations at the codon 132 in the isocitrate dehydrogenase 1 (IDH1) gene occur early, with a high frequency, in World Health Organization (WHO) grade II gliomas.									
22387046	IDH1	mutation	Sarcoma	Genes that are frequently mutated in sarcoma include TP53, NF1, PIK3CA, HDAC1, IDH1 and 2, KDR, KIT and MED12.									
22385606	IDH1	mutation	Glioma; Leukemia	Mutations of IDH1 and IDH2 have been identified in patients with glioma, leukemia, and other cancers.									
22343901	IDH1	mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma	Recurrent mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 have been identified in gliomas, acute myeloid leukaemias (AML) and chondrosarcomas, and share a novel enzymatic property of producing 2-hydroxyglutarate (2HG) from �?ketoglutarate.									
22343896	IDH1	mutation	Brain Neoplasm; Leukemia	IDH1 and IDH2, which catalyse the interconversion of isocitrate and 2-OG, are frequently mutated in human brain tumours and leukaemias.									
22291938	IDH1	mutation	Glioblastoma, IDH-Wildtype	IDH1 mutations were detected in 19/118 pGBM cases (16.1%).									
22290264	IDH1	genetic alteration	Glioblastoma	DNA copy number and exon-sequencing studies of glioblastoma multiforme samples have revealed recurrent genomic alterations in genes such as TP53, EGFR, and IDH1, but to date, this has not resulted in novel glioblastoma multiforme therapies.									
22281806	IDH1	mutation	Glioma	Mutations in isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) have been shown to be present in most World Health Organization grade 2 and grade 3 gliomas in adults.									
22238332	IDH1	mutation	Glioma; Glioblastoma, IDH-Mutant	Mutations in the gene isocitrate dehydrogenase 1 (IDH1) are present in up to 86% of grade II and III gliomas and secondary glioblastoma.									
22217666	IDH1	mutation	Low Grade Glioma	The majority of low-grade gliomas reveal mutations in the genes encoding isocitrate-dehydrogenase 1 (IDH1) or 2 (IDH2).									
22199315	IDH1	mutation	Low Grade Glioma; Glioblastoma, IDH-Mutant	Somatic mutations in the isocitrate dehydrogenase 1 (IDH1) gene have been frequently found in low-grade glioma and secondary glioblastoma and are associated with a significantly younger age at diagnosis and a superior overall survival.									
22180306	IDH1	mutation	Cholangiocarcinoma	Our clinical application of broad-based mutational profiling for patients diagnosed with a gastrointestinal malignancy has led to the novel discovery of mutations in the gene encoding isocitrate dehydrogenase 1 (IDH1) in tumors from a subset of patients with cholangiocarcinoma.									
22172803	IDH1	mutation	Acute Myeloid Leukemia	IDH1 mutations are present but are uncommon in acute myeloid leukemia (AML) and although prognostically favorable in gliomas their clinical significance in AML is unclear.									
27451434	ARID4B	overexpression	Glioma	In vitro, ARID4B protein expression was increased in some glioma cell lines.									
22162831	IDH1	mutation	Acute Lymphoblastic Leukemia	Many adult immature T-ALLs harbored mutations in myeloid-specific oncogenes and tumor suppressors including IDH1, IDH2, DNMT3A, FLT3, and NRAS.									
22147457	IDH1	mutation	Glioma	IDH1 and IDH2 mutations have been frequently found in some types of gliomas (low-grade diffuse gliomas WHO grade II, anaplastic gliomas WHO grade III, and secondary glioblastomas WHO grade IV), and have received significant attention because of their specificity to single codons.									
22136423	IDH1	mutation	Malignant Glioma	Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found frequently in malignant gliomas and are likely involved in early gliomagenesis.									
22106302	IDH1	mutation	Glioma	IDH1 mutation is a somatic mutation that is found only in some glioma subtypes.									
22089350	IDH1	mutation	Glioblastoma, IDH-Mutant	In secondary GBMs, TP53 (66.7%) and IDH1 mutations (44.4%) were most frequent.									
22076165	IDH1	mutation	Glioblastoma with Primitive Neuronal Component	Two out of 8 cases harbored isocitrate dehydrogenase 1 (IDH1) R132H mutation, while IDH2 R172 mutations were not identified.									
22034964	IDH1	mutation	Glioblastoma, IDH-Mutant	IDH (IDH1 or IDH2) mutations were found in 58/79 patients (73.4%).									
22025148	IDH1	mutation	Low Grade Glioma; Glioblastoma, IDH-Mutant	Mutation in isocitrate dehydrogenase 1 (IDH1) at R132 (IDH1(R132MUT)) is frequent in low-grade diffuse gliomas and, within glioblastoma (GBM), has been proposed as a marker for GBMs that arise by transformation from lower-grade gliomas, regardless of clinical history.									
22020636	IDH1	mutation	Cytogenetically Normal Acute Myeloid Leukemia	IDH1 and IDH2 gene mutations are novel, recurring molecular aberrations among patients with normal karyotype acute myeloid leukemia (AML).									
22015945	IDH1	mutation	Malignant Brain Neoplasm	Mutations of the isocitrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) are commonly found in primary brain cancers.									
21997850	IDH1	mutation	Acute Myeloid Leukemia; Myelodysplastic Syndrome	IDH1 and IDH2 mutations were found in four (2.0%) and ten (5.0%) AML and in two (2.4%) and three (3.6%) MDS cases, but not in other patients.									
21955925	IDH1	mutation	Glioma; Glioblastoma, IDH-Mutant	Isocitrate dehydrogenase 1 (IDH1) gene mutations, primarily of the R132H type, occur in approximately 60 - 90% of diffuse and anaplastic gliomas and secondary glioblastomas.									
21955197	IDH1	mutation	Glioblastoma	Following the publication of a landmark genetic sequencing study in 2008, which identified IDH1 as a frequently mutated gene in glioblastoma, much work has been carried out to further characterize the frequency, associations and clinical implications of IDH1/2 mutations.									
21937911	IDH1	mutation	Dysembryoplastic Neuroepithelial Tumor	Molecular genetic abnormalities identified in 17 cases were IDH1 mutation (n = 3), 1p/19q loss (n = 10), isolated loss 9q (n = 2), and PTEN loss (n = 3), which were not associated with tumor type or location, higher cell proliferation, or distinguishing clinical features (mean age of epilepsy onset, 9 years; age at surgery = 31 years; 69% free from seizure); none had progression on magnetic resonance imaging (mean follow-up, 6 years).									
21929658	IDH1	mutation	Glioma	We detected 33 (44.6%) IDH1 mutations, including R132H and R132S, by bidirectional Sanger sequencing.									
21898821	IDH1	mutation	Diffuse Glioma	Isocitrate dehydrogenase-1 (IDH1) mutation is frequent in diffuse gliomas such as oligodendrogliomas.									
21889780	IDH1	mutation	Glioma	Finally, OMICS have identified recurrent IDH1/IDH2 mutations with prognostic significance in glial tumors and five single nucleotide polymorphisms associated with susceptibility to gliomas (e.g. TERT, CCDC26, PHLDB1, RTEL1 and CDKN2A/CDKN2B).									
21889610	IDH1	mutation	Acute Myeloid Leukemia	Isocitrate dehydrogenase 1 (IDH1) and IDH2 mutations and polymorphism are reported in 5% to 15% of acute myeloid leukemia (AML) cases, with G105 and R132 of IDH1 and R140 and R172 of IDH2 known to be clinically significant.									
21885076	IDH1	mutation	Glioma	IDH1, more rarely IDH2, is mutated in 40% of gliomas (roughly 70% of low-grade gliomas, 50% of grade III, and 5 to 10% of primary glioblastomas).									
21874255	IDH1	mutation	Glioma	IDH1 mutations were present in 75 of the 203 cases (36.9%) while IDH2 mutations in 5 of the 203 cases (2.5%).				IDH2	mutual exclusive	No tumor was mutated in both IDH1 and IDH2.			
21867611	IDH1	mutation	Acute Myeloid Leukemia	The results indicated that among 90 de novo AML patients, 4 patients (4.4%) showed the IDH1 gene mutation positive, and 7(7.8%) patients showed IDH2 gene mutation positive.									
21760534	IDH1	mutation	Diffuse Glioma	In all cases with negative immunostaining results (approximately 30%), genetic analysis showed IDH1 wild-type or non-R132H-IDH1 mutations.									
21717448	IDH1	mutation	Astrocytoma	IDH1 mutations, TP53 mutations, and methylated MGMT promoters were seen in 78.1%, 51.2%, and 80.0% of the analyzed tumors, respectively.									
21647154	IDH1	mutation	Childhood Acute Myeloid Leukemia	Somatic IDH1/IDH2 mutations were rare in ALL (N=1), but were more common in AML, occurring in 3.5% (IDH1 N=3 and IDH2 N=5), with the frequency higher in AMLs with a normal karyotype (9.8%).									
21647152	IDH1	mutation	Childhood Acute Myeloid Leukemia	Our analysis identified somatic IDH1/2 mutations in 4% of cases (IDH1 R132 n=8; IDH2 R140 n=10) and the minor allele of single-nucleotide polymorphism (SNP) rs11554137 in 47 children (10.2%).									
21646683	IDH1	mutation	Myeloproliferative Neoplasm	Other mutation events as MPL, TET2, LNK, EZH2 have been described in chronic phase, while NF1, IDH1, IDH2, ASX1, CBL and Ikaros in blast phase of MPN.									
21643842	IDH1	mutation	Glioma	In gliomas, IDH1 mutations at codon R132 were identified in 22.3%, of which 93.7% were c.395G>A (p.R132H).									
21625441	IDH1	mutation	Glioma; Glioblastoma, IDH-Mutant; Glioblastoma, IDH-Wildtype	Heterozygous somatic mutations in IDH1 occur at codon 132 in 70% of grade II-III gliomas and secondary glioblastomas (GBMs), and in 5% of primary GBMs.									
21598255	IDH1	mutation	Glioma; Acute Myeloid Leukemia	Somatic mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 occur in gliomas and acute myeloid leukaemia (AML).									
21569770	IDH1	mutation	Glioma; Glioblastoma, IDH-Wildtype	IDH1 mutations in codon 132 were observed in 46% cases. Primary GBMs showed IDH1 mutation in only 4.4% cases.				TP53	positive correlation	There was a significant correlation between IDH1 mutation and TP53 mutation (p=0.004).			
21532524	IDH1	mutation	Oligodendroglioma	IDH1 mutations, although frequent in oligodendrogliomas, are not seen in EVN.									
21527585	IDH1	mutation	Glioma; Acute Myeloid Leukemia; Thyroid Gland Carcinoma	The somatic IDH1(R132) mutation in the isocitrate dehydrogenase 1 gene occurs in high frequency in glioma and in lower frequency in acute myeloid leukemia and thyroid cancer but not in other types of cancer.									
21504050	IDH1	mutation	Acute Myeloid Leukemia	Mutations in the DNMT3A, TET2, IDH1, and IDH2 genes carry prognostic significance and occur frequently in adult acute myeloid leukemia (AML).									
21481010	IDH1	mutation	Diffuse Glioma; Gliomatosis Cerebri	Recently, mutations in IDH1 and IDH2 have been reported as an early and common genetic alteration in diffuse gliomas, being possibly followed by 1p/19q loss in oligodendrogliomas and TP53 mutations in astrocytomas. Lately, IDH1 mutations have also been identified in adult gliomatosis cerebri (GC).									
21378543	IDH1	mutation	Central Nervous System Embryonal Tumor, Not Otherwise Specified	In 2 cases, a mutation at codon 132 of the IDH1 gene was also found.									
21356389	IDH1	mutation	Melanoma	By screening a cohort of 142 primary nonepithelial tumors, we discovered that about 10% of melanoma cases (4/39) harbored an IDH1 or IDH2 mutation.									
21352804	IDH1	mutation	Glioma	Isocitrate dehydrogenase 1 (IDH1) mutations, which are early and frequent genetic alterations in gliomas, are specific to a single codon in the conserved and functionally important Arginine 132 (R132) in IDH1.									
21344322	IDH1	mutation	Astrocytoma; Oligoastrocytoma; Oligodendroglioma; Glioblastoma, IDH-Mutant	Isocitrate dehydrogenase 1 (IDH1) mutations have recently been identified as early and frequent genetic alterations in astrocytomas, oligodendrogliomas, and oligoastrocytomas, as well as secondary glioblastomas, whereas primary glioblastomas very rarely contain IDH1 mutations.									
21343879	IDH1	mutation	Low Grade Glioma	Isocitrate dehydrogenase 1 (IDH1) mutations arecommon in lower-grade gliomas, with most causing a specific amino acid change (R132H) that can be detected with a monoclonal antibody.									
21343560	IDH1	mutation	Acute Myeloid Leukemia	RUNX1 mutations were associated with MLL-partial tandem duplications (P = .0007) and IDH1/IDH2 mutations (P = .03), inversely correlated with NPM1 (P < .0001), and in trend with CEBPA (P = .10) mutations.				RUNX1	association	RUNX1 mutations were associated with MLL-partial tandem duplications (P = .0007) and IDH1/IDH2 mutations (P = .03), inversely correlated with NPM1 (P < .0001), and in trend with CEBPA (P = .10) mutations.			
27562491	ARID1B	loss of expression	Endometrioid Carcinoma; Ovarian Dedifferentiated Carcinoma	ARID1B expression was absent in the undifferentiated component in all 12 tumours, whereas the corresponding endometrioid component showed intact expression.									
21316759	IDH1	mutation	Acute Myeloid Leukemia	Mutations of isocitrate dehydrogenase 1 (IDH1) have recently been reported in acute myeloid leukemia (AML).									
21314850	IDH1	mutation	Glioma; Glioblastoma, IDH-Wildtype; Ganglioglioma	Recent work has identified novel point mutations in isocitrate dehydrogenase 1 (IDH1) in the majority of the World Health Organization grades II and III infiltrative gliomas and secondary grade IV glioblastomas. Furthermore, the age of patients with IDH1-mutant gangliogliomas was higher than those without mutations (25.5 vs. 46.1 years, P=0.0033).									
21294161	IDH1	mutation	Acute Myeloid Leukemia	Mutations in the genes encoding IDH1 and IDH2 were first reported in human gliomas in 2008 and later on also identified in a minority of patients with acute myeloid leukemia.									
21289278	IDH1	mutation	Glioma	Point mutations of the NADP(+)-dependent isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) occur early in the pathogenesis of gliomas.									
21284999	IDH1	mutation	Low Grade Glioma	A recent cancer genome-sequencing project revealed that more than 70% of low-grade gliomas bear mutations in one of two NAD(+)-dependent isocitrate dehydrogenase enzymes, namely, IDH1 and IDH2.									
21251613	IDH1	mutation	Glioma; Acute Myeloid Leukemia	In glioma, IDH1 mutations are associated with increased histone methylation and decreased 5-hydroxylmethylcytosine (5hmC). Hence, tumor-derived IDH1 and IDH2 mutations reduce α-KG and accumulate an α-KG antagonist, 2-HG, leading to genome-wide histone and DNA methylation alterations.									
21246521	IDH1	mutation	Anaplastic Oligodendroglioma	INA immunohistochemistry expression in tumors from 92 patients who were included in the EORTC 26951 trial was analyzed independently by 2 observers and was correlated with relevant clinical characteristics, including progression-free survival (PFS) and overall survival (OS), and with molecular features, including 1p/19q codeletion, isocitrate dehydrogenase 1 and 2 gene (IDH1/IDH2) mutation, and O-6 methylguanine-DNA methyltransferase (MGMT) promoter methylation status.				INA	correlation	INA expression was observed in 33 tumors and was strongly correlated with 1p/19q codeletion, IDH1 mutations, and MGMT promoter methylation.			
21213123	IDH1	mutation	Glioma; Glioblastoma, IDH-Wildtype	Isocitrate dehydrogenase 1 (IDH1) mutations are common in grade II-III diffuse gliomas and secondary glioblastomas.									
21194923	IDH1	mutation	Glioma	INA was expressed by 43% of gliomas with IDH1 mutation (n=197) versus 12% of gliomas without IDH1 mutation (n=156) (p<0.0001).				INA	positive correlation	INA was expressed by 43% of gliomas with IDH1 mutation (n=197) versus 12% of gliomas without IDH1 mutation (n=156) (p<0.0001).			
21173122	IDH1	mutation	Acute Myeloid Leukemia	Mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes are reported in acute myeloid leukemia (AML).				IDH2	mutual exclusive	IDH1(R) and IDH2(R) mutations were mutually exclusive.			
21088844	IDH1	mutation	Anaplastic Astrocytoma; Glioblastoma	Patients with anaplastic astrocytomas carried IDH1 mutations in 60%, and patients with glioblastomas in 7.2%.									
21080178	IDH1	mutation	Low Grade Glioma	A total of 38 IDH1 mutations at codon 132 and 2 IDH2 mutations at codon 172 were found, including 35 R132H (87.5%), 2 R132C (5.0%), 1 R132S (2.5%) and 2 R172 M (5%).									
21075857	IDH1	mutation	Glioma	Most tumors (86%) were characterized genetically by TP53 mutation plus IDH1/2 mutation (32%), 1p/19q loss plus IDH1/2 mutation (37%), or IDH1/2 mutation only (17%).									
21069360	IDH1	mutation	Astrocytoma; Oligoastrocytoma; Oligodendroglioma	Isocitrate dehydrogenase 1 (IDH1) mutations are frequent in astrocytomas, oligoastrocytomas and oligodendrogliomas.									
21045145	IDH1	mutation	Glioma; Acute Myeloid Leukemia	Mutation at the R132 residue of isocitrate dehydrogenase 1 (IDH1), frequently found in gliomas and acute myelogenous leukemia, creates a neoenzyme that produces 2-hydroxyglutarate (2-HG) from α-ketoglutarate (α-KG).									
20975057	IDH1	mutation	Glioma	Recent studies have shown that IDH1 and IDH2 mutations occur frequently in gliomas, including low-grade gliomas.									
20962328	IDH1	mutation	Malignant Glioma; Acute Myeloid Leukemia	Recurrent somatic mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes that result in the accumulation of D-2-hydroxyglutarate (D-2-HG) have been identified in malignant gliomas and in acute myeloid leukemia (AML).									
20946881	IDH1	mutation	Glioma; Acute Myeloid Leukemia	Frequent mutations in the isocitrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) have been identified in gliomas and acute myeloid leukemia (AML).									
20862485	IDH1	mutation	Glioma	In contrast to the classical molecular markers in this field, p53 and epidermal growth factor receptor (EGFR) status, the clinical significance of which has remained controversial, at least three important molecular markers with clinical implications have now been identified: 1p/19q codeletion, O-methylguanine methyltransferase (MGMT) promoter methylation and isocitrate dehydrogenase-1 (IDH1) mutations.									
20847279	IDH1	mutation	Glioma	Mutations of both the IDH1 and IDH2 (isocitratedehydrogenase enzyme 1 and 2) genes have recently been described in cases of human glioma.									
20805365	IDH1	mutation	Glioma; Acute Myeloid Leukemia	Mutations in the IDH1 gene at position R132 coding for the enzyme cytosolic isocitrate dehydrogenase are known in glioma and have recently been detected also in acute myeloid leukemia (AML).									
22966399	IDH1	mutation	Glioma	The frequency of IDH1 and IDH2 mutations in our panel of gliomas was similar to previously reported mutations.									
20725730	IDH1	mutation	Malignant Glioma	IDH1 mutations were observed in 7 of 43 (16.3%) tumors; no IDH2 mutations were observed.									
20702649	IDH1	mutation	Glioma; Leukemia; Thyroid Gland Carcinoma	Somatic mutations at residue R132 of isocitrate dehydrogenase 1 (IDH1) were recently discovered in gliomas and leukaemia at a high frequency. IDH1-acquired genetic alterations are highly prevalent in thyroid carcinomas (16%).									
20692206	IDH1	mutation	Low Grade Glioma; Glioblastoma, IDH-Mutant; Acute Myeloid Leukemia	Subsequent studies have confirmed recurrent IDH1 and IDH2 mutations in up to 70% of low-grade glioma and secondary GBM, as well as in 10% of acute myeloid leukemia (AML) cases.									
20678218	IDH1	mutation	Acute Myeloid Leukemia	Mutations in FLT3 (mutation and internal tandem duplication), IDH1, IDH2, NPM1 and WT1 occurred primarily in AMLs.									
20651067	IDH1	mutation	Acute Myeloid Leukemia	Mutations in the isocitrate dehydrogenase gene (IDH1) were recently described in patients with acute myeloid leukemia (AML).									
20625116	IDH1	mutation	Acute Myeloid Leukemia	Recently, whole-genome sequencing in acute myeloid leukemia (AML) identified recurrent isocitrate dehydrogenase enzyme isoform (IDH1) mutations (IDH1m), previously reported to be involved in gliomas as well as IDH2 mutations (IDH2m).									
20615753	IDH1	mutation	Diffuse Glioma	IDH1 is mutated in up to 75% of grade II and grade III diffuse gliomas.									
20603105	IDH1	mutation	Melanoma	These mutations occur at IDH1(R132) or the homologous IDH2(R172).									
20567020	IDH1	mutation	Acute Myeloid Leukemia	IDH mutations were found in 129 patients (16.0%) -IDH1 in 61 patients (7.6%), and IDH2 in 70 patients (8.7%).									
20538800	IDH1	mutation	Acute Myeloid Leukemia	Here, we demonstrate in 893 newly diagnosed cases of AML mutations in the IDH1 (6%) and IDH2 (11%) genes.									
20514489	IDH1	mutation	Astrocytoma; Oligodendroglioma; Glioblastoma, IDH-Mutant; Gliomatosis Cerebri	Recent reports showed IDH1 mutations in astrocytic and oligodendroglial tumors WHO grades II and III and in secondary glioblastomas with a frequency of up to 90%, whereas IDH1 mutations occurred in only 5% of primary glioblastomas. We identified IDH1 mutations in 10/24 (42%) cases, which also included a solid tumor portion (type 2 GC), but not in 11 classical cases without solid tumor mass (type 1 GC).									
20513808	IDH1	mutation	Glioma; Cytogenetically Normal Acute Myeloid Leukemia	IDH1 and IDH2 mutations occur frequently in some types of World Health Organization grades 2-4 gliomas and in acute myeloid leukemias with normal karyotype.									
20510884	IDH1	mutation	Glioma; Glioblastoma, IDH-Wildtype	Heterozygous mutations in the IDH1 occur in the majority of grade II and grade III gliomas and secondary glioblastomas and change the structure of the enzyme, which diminishes its ability to convert isocitrate (ICT) to alpha-ketoglutarate (alpha-KG) and provides it with a newly acquired ability to convert alpha-KG to R(-)-2-hydroxyglutarate [R(-)-2HG].									
20465388	IDH1	mutation	Diffuse Glioma	1p19q codeletion, O(6)-methylguanine DNA methyltransferase (MGMT) status, and mutations of isocitrate dehydrogenases 1 and 2 (IDH1/IDH2) are currently the three most pertinent markers in diffuse gliomas.									
20431032	IDH1	mutation	Low Grade Diffuse Glioma; Glioblastoma	IDH1 and IDH2 mutations were detected in 72% of lower grade diffuse gliomas and in 17% of glioblastomas.									
20427748	IDH1	mutation	Glioma	We found that all tumors with complete 1p19q codeletion (n = 128) were mutated in the IDH1 (118) or IDH2 (10) gene.									
20376086	IDH1	mutation	Cytogenetically Normal Acute Myeloid Leukemia	IDH1(R132) mutations occurred most commonly in patients with normal karyotype, and those with FLT3/ITD and NPMc mutations.									
20368543	IDH1	mutation	Cytogenetically Normal Acute Myeloid Leukemia	IDH1 mutations were detected in 49 patients (14%; 47 with R132).									
20368538	IDH1	SNP	Cytogenetically Normal Acute Myeloid Leukemia	We assessed the prognostic impact of IDH1 R132 mutations and a known single nucleotide polymorphism (SNP) located in the same exon of the IDH1 gene in patients with cytogenetically normal acute myeloid leukemia (CN-AML) in the context of other prognostic markers.									
20304625	IDH1	mutation	Glioblastoma	Another mitochondrial and TCA cycle-related protein, isocitrate dehydrogenase 2 is, together with IDH1, frequently mutated in the brain tumour glioblastoma.									
20171178	IDH1	mutation	Glioblastoma; Thyroid Gland Carcinoma	By direct genomic DNA sequencing, we analyzed exon 4 of the IDH1 and IDH2 genes that harbored the mutation hot spots codon 132 and 172 of the two genes in glioblastoma, respectively, in 12 thyroid cancer cell lines, 20 FTC, and 18 ATC tumor samples.									
20171147	IDH1	mutation	Glioma	The somatic mutations in cytosolic isocitrate dehydrogenase 1 (IDH1) observed in gliomas can lead to the production of 2-hydroxyglutarate (2HG).				2HG	correlation	Surprisingly, less than half of cases with elevated 2HG possessed IDH1 mutations.			
20155427	IDH1	aberrant expression	Breast Carcinoma	Among them, nine proteins were up-regulated in MDA-MB-231HM cells, including Macrophage-capping protein (CapG), Galectin-1, Chloride intracellular channel protein 1, Endoplasmic reticulum protein ERp29 precursor, Stathmin-1 (STMN1), Isoform 1 of uridine-cytidine kinase 2(UCK2), Rho GDP-dissociation inhibitor 2 (ARHGDIB), isocitrate dehydrogenase [NADP] cytoplasmic (IDH1), and N-myc downstream regulated gene 1 (NDRG1) protein.									
20142433	IDH1	mutation (gain of function)	Acute Myeloid Leukemia	Recently, IDH1 mutations were identified in 8% of acute myelogenous leukemia (AML) patients. A glioma study revealed that IDH1 mutations cause a gain-of-function, resulting in the production and accumulation of 2-hydroxyglutarate (2-HG).									
20131059	IDH1	mutation	Diffusely Infiltrating Cerebral Glioma	Diffusely infiltrating cerebral gliomas frequently carry point mutations in codon 132 of the isocitrate dehydrogenase 1 (IDH1) gene or in codon 172 of the IDH2 gene, which are both clinically important as diagnostic and prognostic markers.									
20127344	IDH1	mutation	Glioma	Somatic mutations in the isocitrate dehydrogenase 1 gene (IDH1) occur at high frequency in gliomas and seem to be a prognostic factor for survival in glioblastoma patients.									
20097881	IDH1	mutation	Glioma; Acute Myeloid Leukemia	Mutations of nicotinamide adenine dinucleotide phosphate-dependent isocitrate dehydrogenase gene (IDH1) have been identified in patients with gliomas. Recent genome-wide screening also revealed IDH1 mutation as a recurrent event in acute myeloid leukemia (AML), but its clinical implications in AML are largely unknown.									
20077503	IDH1	mutation	Low Grade Diffuse Glioma	IDH1 mutations were most frequently observed in low grade gliomas with c.395G>A (p.R132H) representing >90% of all IDH1 mutations.									
27562491	ARID1B	mutation (loss of function)	Endometrial Undifferentiated Carcinoma; Undifferentiated Ovarian Carcinoma	We identified concurrent inactivating mutations involving ARID1A and ARID1B in 12 of 24 BRG1/INI1-intact, 0 of 3 INI1-deficient and 0 of 16 BRG1-deficient dedifferentiated carcinomas.									
28432260	ZMYND8	underexpression	Invasive Ductal and Lobular Breast Cancer	In concert with this, we observed a significant down-regulation of ZMYND8 in invasive ductal and lobular breast cancer tissues compared with normal tissue.									
27646892	ASXL1	mutation	Ph Negative Myeloproliferative Neoplasm	Mutations were detected in 73.5% (36/49) of genes, and the mutational rates of JAK2-V617F, CALR (exon 9) and MPL were 60.8%(31/51), 7.8%(4/51) and 7.8%(4/51) respectively, whereas the mutational rates of ASXL1, SETBP1, and SF3B1 were around 10%.									
28551329	ZMYM2	mutation	Myeloproliferative Neoplasm; T Lymphoblastic Lymphoma	The most common partner of the FGFR1 is ZMYM2 and patients with the ZMYM2-FGFR1 fusion often present with MPN and T-lymphoblastic lymphoma.				FGFR1	Fusion	The most common partner of the FGFR1 is ZMYM2 and patients with the ZMYM2-FGFR1 fusion often present with MPN and T-lymphoblastic lymphoma.			
27895739	ATAD2	underexpression	Breast Carcinoma	The expression of TSPYL5, MTDH and ATAD2 was significantly decreased in the metastatic (P=0.002, P=0.018 and P=0.016, respectively) and non-metastatic (P=0.038, P=0.045 and P=0.000, respectively) breast cancer groups compared with the control.									
28521285	ARID1B	genetic alteration	Neuroblastoma	Four of five ARID1B alterations were detected in tumors of high-risk patients.									
28294689	ARID1B	copy number loss	Waldenstrom Macroglobulinemia	Deletions involving chromosome 6q are common and include genes that modulate nuclear factor-κB, BCL2, BTK, apoptosis, differentiation, and ARID1B.									
28122867	ARID1B	mutation	Hepatosplenic T-cell Lymphoma	Chromatin-modifying genes, including SETD2, INO80, and ARID1B, were commonly mutated in HSTL, affecting 62% of cases.									
27646892	SETBP1	mutation	Ph Negative Myeloproliferative Neoplasm	Mutations were detected in 73.5% (36/49) of genes, and the mutational rates of JAK2-V617F, CALR (exon 9) and MPL were 60.8%(31/51), 7.8%(4/51) and 7.8%(4/51) respectively, whereas the mutational rates of ASXL1, SETBP1, and SF3B1 were around 10%.									
27664394	PBRM1	mutation	Renal Cell Carcinoma	In the future, prognosis and treatment of patients with mRCC might be based on genomic classification, especially of the 4 most commonly mutated genes in RCC (VHL, PBRM1, BAP1, and SETD2).									
27664394	BAP1	mutation	Renal Cell Carcinoma	In the future, prognosis and treatment of patients with mRCC might be based on genomic classification, especially of the 4 most commonly mutated genes in RCC (VHL, PBRM1, BAP1, and SETD2).									
27723760	ARID1B	mutation	Schwannoma	Exome sequence analysis with validation by targeted DNA sequencing of 125 samples uncovered, in addition to expected NF2 disruption, recurrent mutations in ARID1A, ARID1B and DDR1.							p16(INK4a); p21(CIP1a); p53	regulation	ARID1B controls p16(INK4a) and p21(CIP1a) transcription but also regulates DNA damage, oxidative stress, and p53 induction, suggesting that SWI/SNF uses additional mechanisms to regulate senescence.
27836544	ATAT1	overexpression	Colon Carcinoma	Public transcriptome analysis showed that expression of ATAT1 is specifically upregulated in colon cancer tissue.									
28593990	ASXL2	mutation	Acute Myeloid Leukemia	ASXL2 is frequently mutated in acute myeloid leukaemia patients with t(8;21).									
28516957	ASXL2	mutation	Acute Myeloid Leukemia	While there has been great interest in ASXL1 due to its frequent mutation in leukemia, little is known about its paralog ASXL2, which is frequently mutated in acute myeloid leukemia patients bearing the RUNX1-RUNX1T1 (AML1-ETO) fusion.									
28063196	ASXL2	mutation	Childhood Acute Myeloid Leukemia	We identified 9 (2.4%) ASXL1 and 17 (4.6%) ASXL2 mutations in 25 patients.									
28648284	ARID2	mutation	Intrahepatic Cholangiocarcinoma; Hepatocellular Carcinoma	While ICC and HCC share recurrently mutated genes, including TP53, ARID1A, and ARID2, mitotic checkpoint anomalies distinguish the C1 subtype with key drivers PLK1 and ECT2, whereas the C2 subtype is linked to obesity, Tcell infiltration, and bile acid metabolism.									
28529542	ARID2	mutation	Hepatocellular Carcinoma	Nucleotide changes in coding regions (i.e. TP53, CTNNB1, ARID1A and ARID2) as well as in non-coding regions (i.e. TERT promoter) are considered cancer drivers for HCC development with variable frequencies in different geographic regions depending on the etiology and environmental factors.									
28210865	ARID2	mutation	Melanoma	Apart from mutated BRAF, NRAS, and KIT, a series of new recurrently mutated candidate genes with impact on signaling pathways have been identified such as NF1, PTEN, IDH1, RAC1, ARID2, and TP53.									
28179590	ARID2	mutation	Colon Adenoma	We identified MTOR, ACVR1B, GNAQ, ATM, CNOT1, EP300, ARID2, RET and MAP2K4 mutations for the first time in colon adenomas.									
27834349	ARID2	mutation	Atypical Verruciform Lesion	Eight (73%) and six (55%) of eleven atypical verruciform lesions contained mutations in PIK3CA and ARID2, respectively.									
28580303	BRDT	overexpression	Lung Carcinoma	Aberrant activation of BRDT was first detected in lung cancers.									
28681984	BRD4	overexpression	Gastric Carcinoma	Expression analyses in both small and large cohort of sample show that BRD4 is highly expressed in gastric cancer tissues/cells when compared with the adjacent non-tumor tissues/normal cells.							c-MYC	positive regulation	We also find a positive correlation between the expression of BRD4 and c-MYC in patient samples. The repression of BRD4 by siRNAs leads to the down-regulation of c-MYC in gastric cancer cells. Chromatin immunoprecipitation-qPCR and luciferase assays show that BRD4 binds to and coordinately activates c-MYC promoter, indicating that c-MYC is transcriptional target of BRD4 and BRD4 regulates its basal expression.
28481868	BRD4	aberrant expression	Gastric Carcinoma	Here, we report that the stability and functions of BRD4 are positively regulated by prolyl isomerase PIN1 in gastric cancer cells.	PIN1	positive regulation	Here, we report that the stability and functions of BRD4 are positively regulated by prolyl isomerase PIN1 in gastric cancer cells.						
28391274	BRD4	overexpression	Renal Cell Carcinoma	BRD4 is significantly overexpressed in RCC, and is related to tumor stage and lymph node metastasis.							BCL2; C-MYC; BAX; cleaved CASP3	positive regulation; positive regulation; negative regulation; negative regulation	Inhibition of BRD4 decreased BCL2 and C-MYC expression while increased BAX and cleaved caspase3 expression, and strikingly diminished the recruitment of BRD4 to BCL2 promoter.
27601596	BRD4	copy number gain	Circulating Tumor Cells	Genomic gains in >25% of CTCs were observed in AR, FOXA1, ABL1, MET, ERG, CDK12, BRD4, and ZFHX3, while common genomic losses involved PTEN, ZFHX3, PDE4DIP, RAF1, and GATA2 Analysis of aCGH in a sample with sequential enzalutamide-resistant visceral progression showed acquired loss of AR amplification concurrent with gain of MYCN, consistent with evolution toward a neuroendocrine-like, AR-independent clone.Conclusions: Genomic analysis of pooled CTCs in men with mCRPC suggests a reproducible, but highly complex molecular profile that includes common aberrations in AR, ERG, c-MET, and PI3K signaling during mCRPC progression, which may be useful for predictive biomarker development.									
27723760	ARID1B	mutation	Schwannoma	Exome sequence analysis with validation by targeted DNA sequencing of 125 samples uncovered, in addition to expected NF2 disruption, recurrent mutations in ARID1A, ARID1B and DDR1.									
27900059	BMI1	overexpression	Squamous Cell Lung Carcinoma	High BMI1 expression was more frequent in SCC compared with that in AD (P=0.015).									
27751729	PBRM1	mutation	Metastatic Renal Cell Cancer	Prevalent mutations (�?10%) were VHL (75%), PBRM1 (46%), SETD2 (30%), BAP1 (19%), KDM5C (15%), and PTEN (12%).									
27751729	BAP1	mutation	Metastatic Renal Cell Cancer	Prevalent mutations (�?10%) were VHL (75%), PBRM1 (46%), SETD2 (30%), BAP1 (19%), KDM5C (15%), and PTEN (12%).									
26791111	BRD2	overexpression	Hepatocellular Carcinoma	FSH and LH levels were significantly increased in the HCC group when compared to controls.									
28099595	DIDO1	mutation	Kaposiform Hemangioendothelioma	The mutations in ITGB2, IL-32 and DIDO1 were included in them.									
28713819	DNMT3A	mutation	Acute Myeloid Leukemia	Three genes (FLT3, DNMT3A, and NPMc) are found to be predominantly mutated.									
28687222	DNMT3A	mutation	Myelodysplastic Syndrome	The 6 most commonly identified gene mutations were ASXL1 (8%), DNMT3A (8%), RUNX1 (7%), KRAS (6%), IDH2 (4%), and TP53 (4%).									
27764136	PBRM1	loss of expression	Clear Cell Renal Cell Carcinoma	We found that 49/160 (31%), 81/160 (51%), 23/160 (14%), 24/160 (15%), and 61/160 (38%) of ccRCC showed loss of expression of PBRM1, ARID1A, SETD2, BRG1, and BRM, respectively, and that IHC could successfully detect a high prevalence of ITH.				ARID1A; BRM	positive correlation	For instance, ARID1A loss almost always accompanied PBRM1 loss, whereas BRM loss accompanied loss of BRG1, PBRM1 or ARID1A.			
28634182	DNMT3A	mutation	Myelodysplastic Syndrome with Ring Sideroblasts	Screening for recurrently mutated genes in the mononuclear cell fraction revealed mutations in SF3B1 in 39 of 40 cases (97.5%), combined with TET2 and DNMT3A in 11 (28%) and 6 (15%) patients, respectively.									
28596252	DNMT3A	mutation	Myelodysplastic Syndrome	Moreover, mutations of TET2 or DNMT3A-regulators of cytosine methylation-are among the earliest in myeloid cancers and are even found in healthy adults with cryptic clonal hematopoiesis.									
28505169	DNMT3A	mutation	Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma	The study identified TP53, NOTCH1 and DNMT3A as the most frequently mutated genes.									
28423585	DNMT3A	underexpression (mutation)	Non-Small Cell Lung Carcinoma	In vivo detection of DNMT3A mRNA levels in NSCLC tissues and in vitro luciferase assays consistently showed that the allele G significantly decreased DNMT3A transcription.									
28413430	DNMT3A	genetic alteration	Non-Small Cell Lung Carcinoma	Genomic alterations were found most commonly in the TP53, EGFR, EPHB1, MLL3, APC, SETD2, KRAS, DNMT3A, RB1, CDKN2A, ARID1A, EP300, KDM6B, RAD50, STK11, and BRCA2 genes.									
28345823	DNMT3A	mutation	Acute Myeloid Leukemia	The prevalences of IDH1, IDH2 and DNMT3A mutations were 6.2%, 18.5%, and 7.4%, respectively.									
28100593	DNMT3A	mutation	Acute Myeloid Leukemia	DNMT3A mutations were found in 33 of 157 (21.0%) AML patients.									
27764136	SMARCA4	loss of expression	Clear Cell Renal Cell Carcinoma	We found that 49/160 (31%), 81/160 (51%), 23/160 (14%), 24/160 (15%), and 61/160 (38%) of ccRCC showed loss of expression of PBRM1, ARID1A, SETD2, BRG1, and BRM, respectively, and that IHC could successfully detect a high prevalence of ITH.				BRG1; PBRM1; ARID1A	positive correlation	For instance, ARID1A loss almost always accompanied PBRM1 loss, whereas BRM loss accompanied loss of BRG1, PBRM1 or ARID1A.			
27899806	DNMT3A	mutation	Acute Myeloid Leukemia	More recently, investigators noted that AML patients who achieved complete morphological remission after chemotherapy often have clonal hematopoiesis predominantly marked by either DNMT3A, TET2 or IDH1/2 mutations, which were also present at diagnosis of AML.									
27733013	DNMT3A	mutation	Chronic Myelomonocytic Leukemia	DNMT3A mutations are seen in 5% of patients with chronic myelomonocytic leukemia (CMML) and thus far, have had an indeterminate prognostic impact on survival.									
26966018	DNMT3A	overexpression	Oral Squamous Cell Carcinoma	DNMT1, DNMT3A, and DNMT3B were overexpressed in 36.9, 26, and 23% of the OSCC patients, respectively.									
27859460	EZH2	overexpression	Malignant Mesothelioma	BAP1 loss and high EZH2 expression were observed in 17 (53%) and 22 (66%) malignant mesothelioma cases, respectively, whereas none of the benign lesions showed BAP1 loss or high EZH2 expression.									
28649742	CHD3	copy number loss	Breast Carcinoma	We found that CHD7 was the most commonly gained/amplified and mutated, whereas CHD3 was the most deleted across the majority of tumor types, including breast cancer.									
28055972	CHD3	genetic alteration	Breast Carcinoma	We identified a subset of PHF genes that was recurrently altered with high prevalence, including PYGO2 (pygopus family PHD finger 2), ZMYND8 (zinc finger, MYND-type containing 8), ASXL1 (additional sex combs like 1) and CHD3 (chromodomain helicase DNA binding protein 3).									
28161066	CBX8	overexpression	Gestational Choriocarcinoma	Gains of CBX2, CBX4 and CBX8 were frequently found in high risk prognostic score in GC.									
28454227	CBX2	overexpression	Breast Carcinoma	The results revealed that Cbx2 expression was higher in cancer tissues compared with adjacent normal tissues.									
27859460	BAP1	loss of expression	Malignant Mesothelioma	BAP1 loss and high EZH2 expression were observed in 17 (53%) and 22 (66%) malignant mesothelioma cases, respectively, whereas none of the benign lesions showed BAP1 loss or high EZH2 expression.									
27473587	C14orf69	aberrant expression	Colorectal Carcinoma	NO66 was selectively expressed in CRC tissues.									
28610873	BAZ1B	overexpression	Breast Carcinoma	The major conclusions of this study are that WSTF acts as an activator of ER signaling in MCF-7 breast cancer cells, that this action can be inhibited by 1α,25-dihydroxyvitamin D3, and that the expression of WSTF is higher in breast cancer tissue than in normal tissue.									
27959900	ZMYM3	mutation	Chronic Lymphocytic Leukemia	Mutation frequencies of MYD88, SAMHD1, EGR2, DDX3X, ZMYM3, and MED12 showed similar incidence with Caucasians, while mutation frequencies of ATM, TP53, KLHL6, BCOR and CDKN2A tend to be higher in Koreans than in Caucasians.									
28416638	EYA2	overexpression	Acute Myeloid Leukemia	Interestingly, cancer outlier profile analysis of human samples of acute myeloid leukemia (AML) in The Cancer Genome Atlas (TCGA) revealed a subtype of AML that strongly expressed EYA2. In addition, gene set enrichment analysis of human AML samples, including TCGA data, showed that this subtype of AML was more closely associated with the properties of leukemic stem cells in its gene expression signature than other AMLs.	PLZF-RARA; Plzf	positive regulation	Indeed, PLZF-RARA as well as Plzf rendered those cells immortalized through upregulation of Eya2.						
27795300	EYA1	overexpression	Breast Carcinoma	EYA1 is known to be overexpressed in human breast cancer, in which the Myc protein is also accumulated in association with decreased phospho-T58 (pT58) levels.							Myc	positive regulation	In this study, we have investigated these questions, and here, we report that depletion of EYA1 using short hairpin RNA (shRNA) in breast cancer cells destabilizes the Myc protein and increases pT58 levels, leading to an increase in the doubling time and impairment of cell cycle progression.
28665687	ERCC6	overexpression	Colorectal Carcinoma	ERCC6 was upregulated in CRC tissues compared to matched noncancerous adjacent tissues and was also upregulated in patients who were resistant to 5-FU treatment.									
28202063	ERCC6	mutation	Endometrioid Stromal Sarcoma	These 19 mutations were found in 13 different genes such as: ABCC12, APC, ATM, BRCA1, BRCA2, CDH1, ERCC6, MSH2, POLH, PRF1, SLX4, STK11 and TP53.									
28700329	EZH2	overexpression	Prostate Carcinoma	Down-regulation of MT1E (p < 0.001) and GPR52 (p = 0.002) expression and up-regulated levels of EZH2 (p = 0.025) were specific biomarkers of BCR in at least one of the two PCa cohorts, but only MT1E expression retained the independent prognostic value in a multivariate analysis (p < 0.001).									
28694563	EZH2	aberrant expression	Gastric Carcinoma	For downstream pathways, CTNND1, EZH2, BCL2L2, CDH2, VIM, and EGFR were upregulated by ARPC2, whereas PTEN, BAK, and CDH1 were downregulated by ARPC2. ARPC2 showed higher expression in gastric cancer tissues than in normal gastric tissues.	ARPC2	positive regulation	For downstream pathways, CTNND1, EZH2, BCL2L2, CDH2, VIM, and EGFR were upregulated by ARPC2, whereas PTEN, BAK, and CDH1 were downregulated by ARPC2.						
28688466	EZH2	mutation	Essential Thrombocythemia	For essential thrombocythemia, reported risk factors for leukemic transformation include advanced age, extreme thrombocytosis, anemia, leukocytosis, and sequence variants/mutations involving TP53 and EZH2 (for expansion of gene symbols, see www.genenames.org); for polycythemia vera, advanced age, leukocytosis, abnormal karyotype, mutations involving SRSF2 and IDH2, and treatment with pipobroman, chlorambucil, or P32; and for PMF, increased blast percentage, thrombocytopenia, abnormal karyotype, triple-negative driver mutational status, and sequence variants/mutations involving SRSF2, RUNX1, CEBPA, and SH2B3.									
28677265	EZH2	mutation	Myeloproliferative Neoplasm	Currently known MPN-associated mutations now include JAK2, MPL, LNK, CBL, CALR, TET2, ASXL1, IDH1, IDH2, IKZF1 and EZH2.									
28675510	EZH2	overexpression	Colorectal Carcinoma	Twenty-seven of the 59 OGs evaluated were dysregulated: 14 down-regulated (KLF4, BCL2, SSETBP1, FGFR2, TSHR, MPL, KIT, PDGFRA, GNA11, GATA2, FGFR3, AR, CSF1R, and JAK3), seven up-regulated (DNMT1, EZH2, PTPN11, SKP2, CCND1, MET, and MYC); three down-regulated for MSI (FLT3, CARD11, and ALK); two up-regulated for MSI (IDH2 and HRAS); and one up-regulated with MSS tumors (CTNNB1).									
28671703	EZH2	overexpression	Bladder Carcinoma	Previous studies have suggested that EZH2 is up-regulated in bladder cancer tissues and identified it as a biomarker for poor prognosis.									
28626218	EZH2	mutation	Myelodysplastic Syndrome; Myeloproliferative Neoplasm	Mutations in the epigenetic regulator gene EZH2 are frequently observed in patients with myelodysplastic/myeloproliferative neoplasms (MDS/MPN; 10-13%) and are associated with a poor outcome.				TET2; ASXL1; RUNX1	correlation	EZH2 mutations frequently co-occur with TET2 (58%), RUNX1 (40%) and ASXL1 (34%) mutations.			
28620234	EZH2	overexpression	Ovarian Carcinoma	Here, we showed that EZH2 is up-regulated in ovarian cancer and is associated with tumor metastasis and poor survival by mRNA sequencing and microarray results from databases.				TIMP2	negative correlation	Tissue microarray and immunohistochemistry results revealed that EZH2 was negatively correlated with the expression of tissue inhibitor of metalloproteinases 2 (TIMP2).			
28554757	EZH2	aberrant expression	Non-Small Cell Lung Carcinoma	The overall rate of EZH2 expression was 0.548 [95% confidence interval (CI) 0.491-0.604].									
28536141	EZH2	overexpression	Medulloblastoma	Here, we reported more abundant expression of maternal embryonic leucine-zipper kinase (MELK) and enhancer of zeste homolog 2 (EZH2) in medulloblastoma stem-like cells than in neural stem cells and the interaction between the two proteins could mediate the self-renewal of sonic hedgehog subtype medulloblastoma.									
28444909	EZH2	aberrant expression	Small Cell Carcinoma of the Ovary, Hypercalcaemic Type	Herein, we report that approximately 80% (19/24) of SCCOHT tumour samples have strong expression of the histone methyltransferase EZH2 by immunohistochemistry, with the rest expressing variable amounts of EZH2.									
28430172	EZH2	mutation (gain of function)	Follicular Lymphoma	Recurrent gain-of-function mutations in EZH2 have been described in 25% of FL patients and induce aberrant methylation of histone H3 lysine 27 (H3K27).									
28394193	EZH2	mutation	Lymphoma; Myelodysplastic Syndrome; Myeloproliferative Neoplasm	EZH2 somatic mutations and deletions was found in lymphomas, myelodysplastic and myeloproliferative disorders and associated with higher H3K27me3 levels.				H3K27me3	negative correlation	EZH2 somatic mutations and deletions was found in lymphomas, myelodysplastic and myeloproliferative disorders and associated with higher H3K27me3 levels.			
28388584	EZH2	overexpression	Osteosarcoma	Additionally, EZH2 is highly expressed and associated with the 3' end region of lncRNA MALAT1 in osteosarcoma, and this association finally suppressed the expression of E-cadherin.									
28387316	EZH2	overexpression	Squamous Cell Lung Carcinoma	The pattern of high EZH2, but low H3K27me3 mark, is also prevalent in human lung SCC and SCC regions within ADSCC tumours.									
28381186	EZH2	aberrant expression	Colorectal Carcinoma	The results showed that the PVT1 expression in tumor tissues was higher than that in normal tissues, which was significantly correlated with the expression of c-Myc and three c-Myc regulating genes FUBP1, EZH2, and NPM1 and also correlated with the expression of two other PVT1-associated transcript factors nuclear factor-κB and myocyte-specific enhancer factor 2A.				PVT1	correlation	The results showed that the PVT1 expression in tumor tissues was higher than that in normal tissues, which was significantly correlated with the expression of c-Myc and three c-Myc regulating genes FUBP1, EZH2, and NPM1 and also correlated with the expression of two other PVT1-associated transcript factors nuclear factor-κB and myocyte-specific enhancer factor 2A.			
28359267	EZH2	overexpression	Merkel Cell Carcinoma	ALK, CDKN2A, EZH2 and ERBB4 were overexpressed, and EGFR, ERBB2, PDGFRA and FGFR1 were underexpressed in MCC tumors compared to normal skin.									
28338656	EZH2	overexpression	Hepatocellular Carcinoma	Accordingly, FAK, EZH2 and H3K27me3 were concomitantly upregulated in human HCCs compared to non-tumor livers.									
28260932	EZH2	overexpression	Chronic Lymphocytic Leukemia	The level of SIRT1 and EZH2 mRNA expression was upregulated in patients with CLL (P=0.03 and P=0.02, respectively), which increased significantly with progression from Binet stage A to stage C (P=0.015 and P=0.01, respectively) and Rai good to high risk stage (P=0.007 and P=0.008, respectively).									
28253895	EZH2	overexpression	Breast Carcinoma	Women with a breast biopsy in which more than 20% of normal epithelial cells expressed EZH2 had a significantly increased risk of developing breast cancer (odds ratio (OR) 2.95, 95% confidence interval (CI) 1.11-7.84) compared to women with less than 10% EZH2 epithelial expression.									
28242758	EZH2	overexpression	Pancreatic Carcinoma	Enhancer of zeste homolog 2 (EZH2) is an oncogenic protein overexpressed in pancreatic cancer, and EZH2 could be a potential therapeutic target for the treatment of pancreatic cancer.	FBW7	negative regulation	Here we demonstrate that EZH2 is a bona fide substrate of FBW7 in pancreatic cancer cells. We further show that FBW7 suppresses EZH2 activity and inhibits tumor migration and invasion via degradation of EZH2 in pancreatic cancer cells.						
28184935	EZH2	overexpression	Prostate Carcinoma	The results indicated that EZH2 expression was elevated followed by PCa development.									
28106467	EZH2	mutation	Follicular Lymphoma	Recurrent mutations of histone modifiers KMT2D, CREBBP, EP300, EZH2, ARIDIA, and linker histones are likely early events arising in the CPC pool, rendering epigenetic based therapies conceptually attractive for treatment of indolent and transformed FL.									
27959900	CHD2	mutation	Chronic Lymphocytic Leukemia	Especially, ATM mutation showed 1.5 fold higher incidence than Caucasians, while mutation frequencies of SF3B1, NOTCH1, CHD2 and POT1 tend to be lower in Koreans than in Caucasians.									
27983539	EZH2	overexpression	Colorectal Carcinoma	ANCR, EZH2 and H3K27me3 expressions were up-regulated in CRC tissues and SW620 cells (all P < 0.05).									
27983727	DNMT3A	mutation	Acute Myeloid Leukemia	Overall, mutations in FLT3, DNMT3A, NPM1 and IDH2 were more specific for pAML whereas UTAF1, STAG2, BCORL1, BCOR, EZH2, JAK2, CBL, PRPF8, SF3B1, ASXL1 and DHX29 were more specific for sAML.									
27697098	EZH2	overexpression	Cervical Carcinoma	EZH2 mRNA was increased in cancer tissues compared to normal tissues (3.54±0.71 vs. 1.2±0.65; p=0.003).									
27644248	EZH2	overexpression	Hepatocellular Carcinoma	Overall, we found that NIPP1 and EZH2 were overexpressed in both HCC tissue samples and HCC cell lines.									
27718532	TCF19	SNP	Plasma Cell Myeloma	The SNPs rs13409 (located in the 3'UTR of the POU5F1 gene), rs1419881 (TCF19), rs1049633, rs1049623 (both in DDR1) showed significant associations with MM risk.									
28442573	SETD3	overexpression	Liver and Intrahepatic Bile Duct Carcinoma	We also show that SETD3 levels correlate with cancer malignancy, indicated by SETD3 levels that the 54 liver tumors are 2-fold higher than those in the relevant adjacent tissues.									
27997699	SETD1B	mutation	Endometrial Endometrioid Adenocarcinoma with a Poorly Differentiated Carcinomatous Component	For the first time, we show that mutations in chromatin remodelling-related genes (KMT2D, KMT2C, SETD1B and BCOR) and in DNA-repair-related genes (BRCA1, BRCA2, RAD50 and CHD4) are frequent in this subtype of endometrial cancer.				RAD50	positive correlation	The alterations to these genes occurred with frequencies ranging from 35.5% for KMT2D to 10.5% for BRCA1 and BCOR, with some showing a tendency toward co-occurrence (RAD50-KMT2D and RAD50-SETD1B).			
28485815	TAF1	mutation	Clear Cell Endometrial Cancer	Among the 63 cases of CCEC in this study, we identified frequent somatic mutations in TP53 (39.7%), PIK3CA (23.8%), PIK3R1 (15.9%), ARID1A (15.9%), PPP2R1A (15.9%), SPOP (14.3%), and TAF1 (9.5%), as well as MSI (11.3%).									
27571988	TAF1	mutation	Colorectal Carcinoma	In addition, we analyzed intratumoral heterogeneity (ITH) of TAF1 and TAF1L frameshift mutations in 16 CRC and found that two and one CRC harbored regional ITH of TAF1 and TAF1L frameshift mutations, respectively.									
28341484	RUVBL1	overexpression	Breast Carcinoma	Elevated expression of RUVBL1 is found in high metastatic breast cancer cells.									
28024138	SMYD3	overexpression	Ovarian Carcinoma	SMYD3 mRNA and protein expressions were higher in the patients carrying genotype 3/3 than they were in the patients with the 2/2+2/3 genotype (all P<0.05).									
27554136	SMYD3	overexpression	Liver Neuroendocrine Tumor	Smyd3 expression has a high discriminative power for the characterization of liver tumors and positively correlates with poor prognosis.									
27983727	EZH2	mutation	Acute Myeloid Leukemia	Overall, mutations in FLT3, DNMT3A, NPM1 and IDH2 were more specific for pAML whereas UTAF1, STAG2, BCORL1, BCOR, EZH2, JAK2, CBL, PRPF8, SF3B1, ASXL1 and DHX29 were more specific for sAML.									
28263968	SND1	overexpression	Breast Carcinoma	In this study, we discovered that SND1 was upregulated in breast cancer tissues, particularly the tissues from patients with distant metastases.									
27911851	SND1	SNP	Ovarian Carcinoma	Association analysis revealed top risk-associated SNP rs77027562 (OR (95% CI)= 1.39 (1.17-1.64), P=1.0x10-4) in ADAR3 and rs185455523 in SND1 (OR (95% CI)= 0.68 (0.56-0.83), P=2.0x10-4).									
28403887	CBX1	overexpression	Prostate Carcinoma	We then ran a factorial discriminant analysis (FDA) and compared the enriched genes in prostate-tumor biopsies and normal biopsies using ANOVA to identify significantly differentially-enriched genes. The analysis identified ALG5, EXOSC8, CBX1, GRID2, GRIN3B, ING3, MYO1D, NPHP3-AS1, MSH6, FBXO11, SND1, SPATS2, TENM4 and TRA2A genes.									
28637621	SETBP1	mutation	Myeloid Neoplasm	Recurrent somatic lesions comprise monosomy 7 and trisomy 8 karyotypes and mutations in SETBP1 and ASXL1 genes.									
28314085	SETBP1	mutation	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative	Mutational frequencies were, ASXL1 28%, TET2 16%, NRAS 16%, SETBP1 12%, RUNX1 12%, ETNK1 8%, and PTPN11 4%.									
28209919	SETBP1	mutation	Chronic Neutrophilic Leukemia; Chronic Myelomonocytic Leukemia	Mutations in CSF3R and SETBP1 were found in 7.1% and 5.3% CMML patients respectively, while 25% of CMML patients carried SRSF2 mutations.									
27863435	SETBP1	mutation	Myeloid Neoplasm	SETBP1 missense mutations have been frequently identified in multiple myeloid neoplasms; however, their oncogenic potential remains unclear.									
28422722	STK31	overexpression	Pancreatic Carcinoma	STK31 was confirmed as a CT gene in PC and its expression was significantly higher in patients with new neoplasm compared with patients without new neoplasm (P = 0.046) and in more advanced pathologic stages than in earlier stages (P = 0.002); methylation level correlated negatively with STK31 expression.									
28412729	STK31	overexpression	Colorectal Carcinoma	STK31 expression levels in primary tumorous tissues of metastatic patients were significantly higher than in ANCTs and in lymph nodes samples, both at the RNA level and the protein level.									
28529595	RNF2	overexpression	Gastric Carcinoma	The results demonstrate that Rnf2 is upregulated in gastric cancer cells.							p21; p27	negative regulation	The expression levels of p21 and p27 were also significantly elevated by the knockdown of Rnf2.
28029659	RNF2	overexpression	Prostate Carcinoma	Here we show that PCa tissues showed higher RNF2 expression than the benign prostatic hyperplasia (BPH) tissues.									
28289901	RSF1	overexpression	Lung Carcinoma	In the present study, we found that there was a significant association between Rsf-1 overexpression and poor overall survival (p=0.028) in lung cancer.									
28261335	RSF1	overexpression	Nasopharyngeal Carcinoma	Results: Our present study demonstrated that both mRNA and protein expressions of RSF1 were increased and correlated with advanced NPC clinical stage.									
28633434	PSIP1	overexpression	Triple-Negative Breast Cancer	PSIP1/p75, previously identified as a chromatin-adaptor protein, is found to be upregulated in basal-like/triple negative breast cancer (TNBC) patient samples and cell lines.									
28212536	PSIP1	overexpression	Prostate Carcinoma	Furthermore, LEDGF/p75 overexpression in PCa and other cancers has been associated with features of tumor aggressiveness, including resistance to cell death and chemotherapy.									
28511652	ING3	overexpression	Prostate Carcinoma	We find that ING3 levels and AR activity positively correlate in prostate cancer.									
28403887	SND1	overexpression	Prostate Carcinoma	We then ran a factorial discriminant analysis (FDA) and compared the enriched genes in prostate-tumor biopsies and normal biopsies using ANOVA to identify significantly differentially-enriched genes. The analysis identified ALG5, EXOSC8, CBX1, GRID2, GRIN3B, ING3, MYO1D, NPHP3-AS1, MSH6, FBXO11, SND1, SPATS2, TENM4 and TRA2A genes.									
27806345	ING4	underexpression	Colorectal Carcinoma	In this study, we found that ING4 expression was significantly reduced in CRC tissues versus paired normal colon tissues.									
28004105	UHRF2	overexpression	Hepatocellular Carcinoma	The level of UHRF2 was higher in the HCC tissues compared with the adjacent non-tumor tissues, but its expression did not exhibit a significant difference between the HepG2 HCC cells and the L02 normal cells.									
28656289	PRMT1	overexpression	Head and Neck Squamous Cell Carcinoma	Immunohistochemical analyses of specimens from typical HNC patients showed strong PRMT1 expression in the tumor cells compared with neighboring normal cells.									
28040436	PRMT1	overexpression	Colorectal Carcinoma	Protein Arginine Methyl Transferase 1 (PRMT1) is deemed to be a potential oncogenic protein considering its overexpression in several malignancies including colorectal cancer.				FAM98A; FAM98B	positive correlation	Analysis of the data from The Cancer Genome Atlas (TCGA) database and clinical colorectal cancer specimens also demonstrated a strong positive correlation and co-occurrence of PRMT1, FAM98A and FAM98B.			
28710806	PRDM16	overexpression	Acute Myeloid Leukemia	High PRDM16 (also known as MEL1) expression is a representative marker of acute myeloid leukemia (AML) with NUP98-NSD1 and is a significant predictive marker for poor prognosis in pediatric AML.									
28339081	PRDM2	underexpression (hypermethylation)	Hepatocellular Carcinoma	RIZ1 gene, a candidate HCC suppressor gene, is frequently found to be hypermethylated and downregulated in HCC.	DNMT1; HBx	negative regulation	HBx recombinant transfection increased DNMT1 expression level and suppressed RIZ1 expression. Moreover, knockdown of DNMT1 by siRNA restored RIZ1 expression in HCC cell SMMC-7721 and reduced methylated CpG sites of RIZ1.						
28228691	SUZ12	overexpression	Tongue Squamous Cell Carcinoma	Our immunohistochemical staining data revealed aberrant overexpression of SUZ12 in a large subset of TSCC as compared to normal tongue mucosa.									
27738815	SUZ12	mutation	Stromal Neoplasm	Low grade stromal neoplasms frequently show gene fusions, such as JAZF1/SUZ12.				JAZF1	Fusion	Low grade stromal neoplasms frequently show gene fusions, such as JAZF1/SUZ12.			
28344213	TBL1XR1	overexpression	Ovarian Carcinoma	Real-time quantitative PCR analysis showed that the expression level of TBL1XR1 mRNA was significantly higher in EOC tissues compared with adjacent non-tumorous tissues.									
27694893	TBL1XR1	overexpression	Gastric Carcinoma	Here, we find that TBL1XR1 is aberrantly expressed in human GC tissues, and TBL1XR1 levels are highly correlated with local tumour invasion, late tumor, lymph node, metastasis (TNM) stage and poor prognosis.									
28618948	BAP1	mutation	Uveal Melanoma; Clear Cell Renal Cell Carcinoma	Consistently, BAP1 mutation was correlated with critical clinicopathological features only in uveal melanoma and clear cell renal cell carcinoma.									
28594900	BAP1	mutation	Uveal Melanoma	Known recurrent mutations were identified in GNAQ, GNA11, BAP1, EIF1AX, and SF3B1.									
28551647	BAP1	mutation	Uveal Melanoma; Malignant Mesothelioma; Cutaneous Melanoma	Germline mutations of the oncosuppressor gene breast cancer 1-associated protein 1 (BAP1) were recently related to an autosomal-dominant tumor predisposition syndrome (BAP1-TPDS), characterized by uveal melanoma, malignant mesothelioma (MM), cutaneous melanoma, and other malignancies.									
28488170	BAP1	loss of expression (mutation)	Renal Cell Carcinoma	Mutations that cause loss of expression of BAP1 frequently occur in primary clear cell renal carcinoma (ccRCC).									
28459210	BAP1	mutation	Clear Cell Renal Cell Carcinoma	Our results indicated that urothelial carcinoma-associated 1 overexpression was associated with male ( p = 0.003), wild-type PBRM1 ( p = 0.021), and BAP1 mutation ( p = 0.022) in clear cell renal cell carcinoma, although lower expression was found in tumors compared with normal controls, validated in tumor tissues from The Cancer Genome Atlas and 21 clear cell renal cell carcinoma patients at our hospital.				UCA1	association	Our results indicated that urothelial carcinoma-associated 1 overexpression was associated with male ( p = 0.003), wild-type PBRM1 ( p = 0.021), and BAP1 mutation ( p = 0.022) in clear cell renal cell carcinoma, although lower expression was found in tumors compared with normal controls, validated in tumor tissues from The Cancer Genome Atlas and 21 clear cell renal cell carcinoma patients at our hospital.			
28409567	BAP1	mutation	Melanoma Arising from Blue Nevus	EIF1AX, SF3B1, and BAP1 mutations were also detected, with BAP1 and SF3B1 R625 mutations being present only in clearly malignant tumors (17% (n=2) and 25% (n=3) of blue nevus-like melanoma, respectively).									
28408295	BAP1	mutation	Clear Cell Renal Cell Carcinoma	Five commonly mutated genes were chosen for analysis: VHL, PBRM1, BAP1, SETD2, and KDM5C.									
28389374	BAP1	mutation	Pleural Malignant Mesothelioma	BAP1 mutations are frequent in malignant pleural mesothelioma (MPM).									
28342657	BAP1	mutation	Pleural Malignant Mesothelioma	BAP1 mutations are present in 47-67% of the MPM tumors, making this a good target for treatment.									
28338651	BAP1	loss of expression	Peripheral Intrahepatic Cholangiocarcinoma	One-third of perihilar cholangiocarcinomas lacked the expression of SMAD4, suggesting SMAD4 mutations, whereas the loss of BAP1 expression and IDH1 mutations were almost restricted to the peripheral type (35 and 15%, respectively).									
28327999	BAP1	genetic alteration	Salivary Gland Mucoepidermoid Carcinoma	Comprehensive genomic profiling of salivary mucoepidermoid carcinomas reveals frequent BAP1, PIK3CA, and other actionable genomic alterations.									
28327121	BAP1	mutation	Clear Cell Renal Cell Carcinoma	BAP1 and PBRM1 are frequently mutated in primary clear cell renal cell carcinoma (ccRCC) tumors; however, the frequency and clinical relevance of these mutations in metastatic ccRCC tumors is unknown.									
28205427	BAP1	loss of expression	Malignant Mesothelioma	Loss of BAP1 has recently been described as a highly specific marker for distinguishing malignant mesotheliomas (MM) from benign mesothelial proliferations (BMP).									
28170043	BAP1	inactivation 	Rhabdoid Meningioma	The tumor suppressor gene BAP1, a ubiquitin carboxy-terminal hydrolase, is inactivated in a subset of high-grade rhabdoid meningiomas.									
28122578	BAP1	genetic alteration	Intrahepatic Cholangiocarcinoma	Genetic alterations in chromatin modulators such as BRCA-1 associated protein-1 (BAP1) are the most frequent genetic alteration in intrahepatic cholangiocarcinomas (CCA).									
28062663	BAP1	mutation	Uveal Melanoma; Mesothelioma; Meningioma; Renal Cell Carcinoma; Skin Basal Cell Carcinoma	Germline mutation of the BRCA1 associated protein-1 (BAP1) gene has been linked to uveal melanoma, mesothelioma, meningioma, renal cell carcinoma and basal cell carcinoma.									
28038708	BAP1	loss of expression	Biphasic Mesothelioma; Epithelioid Mesothelioma	BAP1 loss was observed in 5 (38.5%) of 13 biphasic mesotheliomas and in both epithelioid and sarcomatoid components. BAP1 loss was observed in 5 (62.5%) of 8 epithelioid mesotheliomas but not in fibrous stroma.									
28034829	BAP1	inactivation 	Pleural Mesothelioma	Germline and somatic inactivation of BRCA1 associated protein 1 gene (BAP1) is frequent in pleural mesothelioma; however, little is known about its status in peritoneal mesothelioma.									
28403887	ING3	overexpression	Prostate Carcinoma	We then ran a factorial discriminant analysis (FDA) and compared the enriched genes in prostate-tumor biopsies and normal biopsies using ANOVA to identify significantly differentially-enriched genes. The analysis identified ALG5, EXOSC8, CBX1, GRID2, GRIN3B, ING3, MYO1D, NPHP3-AS1, MSH6, FBXO11, SND1, SPATS2, TENM4 and TRA2A genes.									
27834213	BAP1	mutation	Malignant Mesothelioma	We used a custom-made comparative genomic hybridization array (aCGH; average probe interval 254 bp) to screen 33 malignant mesothelioma (MM) biopsies for somatic copy number loss throughout the 3p21 region (10.7 Mb) that harbors 251 genes, including BRCA1 (breast cancer 1)-associated protein 1 (BAP1), the most commonly mutated gene in MM.									
27813512	BAP1	mutation	Peritoneal Mesothelioma; Pleural Mesothelioma	While these genes are known to be recurrently mutated in pleural mesotheliomas, the frequencies are distinct in peritoneal mesotheliomas, with nearly 85% of peritoneal tumors harboring BAP1 alterations versus only 20-30% of pleural tumors.									
27718540	BAP1	mutation	Uveal Melanoma	Combined with published studies, the frequency of BAP1 mutations was 14/64 (22%) in FUM.									
28667884	DNMT3A	mutation	Chronic Myelogenous Leukemia, BCR-ABL1 Positive; Myeloid Neoplasm	In 6 patients, we detected mutations in 6 genes commonly mutated in other myeloid neoplasms: ABL1, ASXL1, DNMT3A, IDH1, SETBP1, and TP63.									
27745836	BAP1	mutation	Uveal Melanoma	Recurrent coding mutations were found in the known UM drivers GNAQ, GNA11, BAP1, EIF1AX, and SF3B1.									
28667884	SETBP1	mutation	Myeloid Neoplasm	In 6 patients, we detected mutations in 6 genes commonly mutated in other myeloid neoplasms: ABL1, ASXL1, DNMT3A, IDH1, SETBP1, and TP63.									
28700998	HDAC6	underexpression	Gastric Carcinoma	Higher levels of HDAC6 expression were detected in normal and premalignant lesions than in the GC tissues (p<0.01), and decreased HDAC6 expression was associated with HP infection and TNM stage (p<0.01 and p=0.048, respectively).									
26622562	AID	Aberrant expression	Gastric Carcinoma	Aberrant AID, p53 and MLH1 expression was detected in 36.4, 0 and 0% of the adenomas, in 35.9, 32.6 and 16.3% of the MCs, and in 56.8, 62.2 and 21.6% of the SMCs, respectively. The frequency of aberrant AID and p53 expression in the SMCs was significantly increased compared with that in the MCs (AID, P<0.05; p53, P<0.01). Aberrant AID expression was significantly associated with p53 overexpression in the SMCs (P<0.01), but not in the adenomas or MCs.																					
26398702	AID	Overexpression	Pancreatic Carcinoma	Our immunohistochemical findings revealed AID protein expression in human acinar ductal metaplasia, pancreatic intraepithelial neoplasia, and PDAC. Both the amount and intensity of the AID protein expression increased with the progression from precancerous to cancerous lesions in human PDAC tissues.																					
24853685	AID	Overexpression	Lung Carcinoma	Abundant mRNA of IgG and essential enzymes for IgG synthesis, recombination activation genes 1, 2 (RAG1, 2) and activation-induced cytidine deaminase (AID) were detected in the cancer cells but not in adjacent normal lung tissue or normal lung epithelial cell line.																					
24511045	AID	Overexpression	Gastric Adenocarcinoma	High AID and PKCi expression was significantly (p<0.05) associated with poorly-differentiated gastric adenocarcinoma.				PKCi; p53	correlation	Furthermore, AID expression was significantly correlated with PKCi and mutated p53 protein expression in gastric adenocarcinoma (p<0.05).															
24351917	AID	Overexpression	Oral Squamous Cell Carcinoma	AID was observed in prickle cells in oral mucosal epithelium with epithelial dysplasia and in oral cancer cells. In the HSC-2 cell line, AID expression was enhanced. 	TNF-α	positive regulation	In the HSC-2 cell line, AID expression was enhanced by TNF-α via NF-κB activation.				Snail; N-cadherin	positive regulation	In the HSC-2 cell line, AID expression promoted expression of N-cadherin by regulating Snail expression.												
21133730	AID	Overexpression	Chronic Lymphoid Leukemia	Additionally, we found that the mRNA levels of patients with AID in CLL were eight-fold higher than those in control patients, suggesting that AID overexpression promotes chromosomal abnormalities and is associated with CLL progression and survival.																					
27698834	SIRT4	Overexpression	Breast Carcinoma	SIRT4 protein was markedly increased in the breast cancer cells compared with adjacent non-tumor mammary cells and was correlated with estrogen receptor, progesterone receptor, nuclear-associated antigen Ki-67 and tumor protein p53 status, as well as breast cancer subtypes.				Ki-67; p53	correlation	SIRT4 protein was markedly increased in the breast cancer cells compared with adjacent non-tumor mammary cells and was correlated with estrogen receptor, progesterone receptor, nuclear-associated antigen Ki-67 and tumor protein p53 status, as well as breast cancer subtypes.															
27080717	SIRT4	Underexpression	Breast Carcinoma	Particularly, expressions of SIRT1 and SIRT4 were found to be significantly down-regulated in breast cancer tissues and SKBR3 breast cancer cells.																					
26986234	SIRT4	Underexpression	Colorectal Carcinoma	Using a tissue microarray of 89 colorectal cancer cases, we found that SIRT4 was significantly downregulated in colorectal cancer tissues compared with that noted in the corresponding normal tissue (P<0.001).																					
26785117	SIRT4	Underexpression	Head and Neck Squamous Cell Carcinoma	A statistically significant downregulation of SIRT3 (p<0.001), SIRT4 (p<0.0001), MTUS1 (p<0.002) and OGG1 (p<0.0001) was observed in HNSCC compared to control samples.				SIRT3; OGG1	Positive correlation	Additionally, to explore gene-gene relationship, we observed a positive spearmen correlation between SIRT3 versus SIRT4 (r = 0.523***, p<0.0001), SIRT3 versus MTUS1 (r = 0.273***, p<0.001), SIRT3 versus OGG1-2a (r = 0.213*, p<0.03), SIRT4 versus OGG1 (r = 0.338***, p<0.0001) and MTUS1 versus OGG1-2a (r = 0.215*, p<0.03) in HNSCC cases.															
26054687	SIRT4	Underexpression	Gastric Adenocarcinoma	We found that the expression level of SIRT4 in gastric adenocarcinoma was significantly lower than the corresponding normal tissue levels (P=0.003).																					
27596623	CHD1	Mutation	Prostate Carcinoma	Our findings suggest that CHD1 deletion, like BRCA1/2 mutation in ovarian cancer, may serve as a marker for prostate cancer patient stratification and the utilization of targeted therapies such as PARP inhibitors, which specifically target tumors with HR defects.																					
25879624	CHD1	mutation	Acute Myeloid Leukemia	Transcriptome sequencing identified the chromodomain-helicase-DNA-binding protein 1 gene, CHD1, as a novel partner gene of RUNX1. We have identified CHD1 as the RUNX1 fusion partner in acute myeloid leukemia with t(5;21)(q21;q22).				RUNX1	Fusion	Transcriptome sequencing identified the chromodomain-helicase-DNA-binding protein 1 gene, CHD1, as a novel partner gene of RUNX1. We have identified CHD1 as the RUNX1 fusion partner in acute myeloid leukemia with t(5;21)(q21;q22).															
24952891	CHD1	hypermethylation	Breast Carcinoma	Our meta-analysis results demonstrated that the frequency of CHD1 promoter methylation in cancer tissues was significantly higher than that in normal tissues, adjacent tissues, and benign tissues (cancer tissue vs. normal tissue OR = 30.87, 95 % CI = 16.76 ~ 56.86, P < 0.001; cancer tissue vs. adjacent tissue OR = 23.30, 95 % CI = 12.85 ~ 42.26, P < 0.001; cancer tissue vs. benign tissue OR = 2.94, 95 % CI = 1.60 ~ 5.40, P < 0.001; respectively). Our results suggest that aberrant promoter methylation of the CHD1 gene may have a high frequency in breast cancer tissues.																					
23492366	CHD1	copy number loss	Prostate Carcinoma	FISH analysis of 2,093 prostate cancers revealed a strong association between CHD1 deletion, prostate-specific antigen (PSA) biochemical failure (P = 0.0038), and absence of ERG fusion (P < 0.0001).																					
22179824	CHD1	Underexpression (copy number loss)	Prostate Carcinoma	Expression of CHD1 was significantly reduced in tumors with deletion (P=0.03), and compared with normal prostate (P=0.04).																					
26617740	JMJD5	Overexpression	Breast Carcinoma	In this study, we showed the expression of JMJD5 was increased in breast cancer tissues and breast adenocarcinoma cell lines MCF-7 as well as triple negative breast cancer cell lines MDA-MB-231 compared with paired adjacent normal mammary tissues and normal mammary epithelial cell lines MCF-10A.																					
26261525	JMJD5	Overexpression	Colon Carcinoma	The results of IHC showed that JMJD5 was significantly up-regulated compared with normal tissues (P<0.01). Additionally, follow-up data demonstrated that the survival rate of patients with high expression of JMJD5 was obviously lower than that with low expression (P<0.01).																					
19234524	YEATS4	copy number gain	Glioblastoma; Astrocytoma	GAS41 is amplified in glioblastomas and astrocytomas																					
18160213	YEATS4	Overexpression (Copy number gain)	Liposarcoma	Expression analysis of genes from the three major amplicons revealed that several highly amplified potential target genes, including HMGA2, MDM2, YEATS4, CDK4, PKP1, IPO9, and SOX21, were strongly overexpressed																					
9302258	YEATS4	copy number gain	Glioblastoma; Astrocytoma	An increased copy number of GAS41 was found in glioblastoma multiforme and astrocytoma III, and at a high frequency in astrocytoma grades I and II.																					
26418899	BPTF	Overexpression	Colorectal Carcinoma	BPTF mRNA and protein expression were significantly overexpressed in CRC tissues when compared with paired NATs (P < 0.01). The expression levels of BPTF and vimentin in CRC paraffin-embedded specimens were significantly higher than the expression in NATs (P < 0.01). 				E-cadherin; vimentin	Negative Correlation; Positive Correlation	The last and more interesting Spearman rank correlation analysis and microscopic observation found that the expression of BPTF obviously correlated with the expression of EMT markers vimentin and E-cadherin. The expression levels of BPTF and vimentin in CRC paraffin-embedded specimens were significantly higher than the expression in NATs (P < 0.01), while the expressions of E-cadherin in tumors were obviously lower than in NATs (P < 0.01). 															
25713167	BPTF	Overexpression	Melanoma	BPTF overexpression predicted poor survival in a cohort of 311 melanoma patients (distant metastasis-free survival P = .03, and disease-specific survival P = .008), and promoted resistance to BRAF inhibitors in melanoma cell lines.																					
25362514	BPTF	Overexpression	Hepatocellular Carcinoma	BPTF and vimentin showed high expression and E-cadherin showed low expression in HCC. BPTF is associated with the tumor number, vascular invasion, Edmondson-Steiner grade, TNM stage and recurrence (P < 0.05). 				E-cadherin; vimentin	Negative Correlation; Positive Correlation	Additionally, high BPTF expression is correlated with high vimentin expression and low E-cadherin expression (P < 0.05).															
26095183	CHD4	Overexpression	Hepatocellular Carcinoma	CHD4 was abundantly expressed in EpCAM(+) hepatocellular carcinoma with expression of hepatic stem cell markers and poor prognosis in two independent cohorts.																					
20049841	HDAC3	Overexpression	Ovarian Carcinoma	The results indicated that the immunohistochemical expression of nuclear HDAC1, HDAC2 and HDAC3 proteins increased stepwise in benign, borderline and malignant tumors.				E-cadherin	Negative Correlation	The expression of HDAC1 and HDAC2 was correlated with Ki-67 expression and that of HDAC3 was inversely correlated with E-cadherin expression.															
24211491	CHD7	Mutation	Colorectal Carcinoma with CpG methylator phenotype 1	A prevalence screen showed that nonsilencing mutations in CHD7 and CHD8 occurred significantly more frequently in CIMP1 tumors (18 of 42 [43%]) than in CIMP2 (3 of 34 [9%]; P < .01) or CIMP-negative tumors (2 of 34 [6%]; P < .001).				CIMP1 markers	Binding	CIMP1 markers had increased binding by CHD7, compared with all genes.															
12124339	CHD7	Overexpression	Colon Carcinoma	KNSL6 and KIAA1416, were up-regulated, and another antigen, NY-CO-45, showed a variable level of mRNA expression in colon cancer.																					
25499215	CHD8	Underexpression	Prostate Carcinoma	HD8 expression was decreased in HGPIN, localized, and metastatic PCa compared to benign (P < .001). CHD8 promoter hypermethylation, assessed by Quantitative Pyrosequencing, occurred in over 45% of primary cancers in this population as well as the TGCA database. 																					
23835524	CHD8	Underexpression	Gastric Carcinoma	We analyzed the expression of CHD8 in cancer lesions and corresponding non-cancerous tissues to demonstrate the prognostic significance of CHD8 expression in 101 cases of gastric cancer. Expression of CHD8 mRNA was significantly lower in gastric cancer tissues compared to that in corresponding normal tissues (P=0.003).																					
20049841	HDAC2	Overexpression	Ovarian Carcinoma	The results indicated that the immunohistochemical expression of nuclear HDAC1, HDAC2 and HDAC3 proteins increased stepwise in benign, borderline and malignant tumors.																					
26803516	ING3	Underexpression	Prostate Carcinoma	ING3 expression was highest in benign prostate tissues (mean 3.2±0.54) compared to PCa (mean 2.5±0.26) (p=0.437), advanced prostate cancer (AdvPCa) (mean 1.5±0.32) (p=0.004), and castration-resistant prostate cancer (CRPC) (mean 2.28±0.32) (p=0.285). Higher ING3 expression was marginally associated with lethal disease (p=0.052), and this was more pronounced in patients with ERG-negative status (p=0.018).																					
24927342	ING3	Underexpression	Colorectal Adenocarcinoma	Carcinomas showed significantly lower ING3 expression than matched NNM at mRNA level (P< 0.05), but not at protein level. Immunohistochemically, ING3 expression was significantly decreased from NNM, adenoma to adenocarcinoma (P< 0.05). Our study showed that downregulated ING3 expression might play an important role in colorectal adenoma-adenocarcinoma sequence.																					
22550337	ING3	Underexpression	Hepatocellular Carcinoma	Both mRNA and protein concentrations of ING3 were found to be downregulated in the majority of HCC tumors in comparison with matched non-tumor hepatic tissues. Analysis of the relationship between ING3 staining and clinico-pathological characteristics of HCC showed that the low expression of ING3 protein is correlated with more aggressive behavior of the tumor.																					
18081876	ING3	Underexpression	Head and Neck Carcinoma	About half of the 71 tumor samples demonstrated downregulation of ING3 compared to their matched normal counterparts.																					
17634537	ING3	Underexpression	Human Cutaneous Melanoma	Nuclear ING3 expression was remarkably reduced in malignant melanomas compared with dysplastic nevi (P<0.001), which was significantly correlated with the increased ING3 level in cytoplasm (P<0.05).																					
12080476	ING3	Underexpression; Loss of expression	Head and Neck Squamous Cell Carcinoma	Reverse-transcription-PCR analysis demonstrated decreased or no expression of ING3 mRNA in 50% of primary tumors as compared with that of matched normal samples. Especially, about 63% of tongue and larynx tumors showed the decrease and a tendency of higher mortality was observed in cases with decreased ING3 expression.																					
27409347	ING5	Underexpression	Lung Carcinoma	ING5 expression level was significantly higher in normal tissue than that in lung cancer at both protein and mRNA levels. Taken together, our data suggested that ING5 downregulation might involved in carcinogenesis, growth, and invasion of lung cancer and could be considered as a promising marker to gauge the aggressiveness of lung cancer.																					
21062663	ING5	Aberrant Expression	Gastric Carcinoma	Nuclear ING5 expression was negatively correlated with tumor size, depth of invasion, lymph node metastasis, and clinicopathologic staging (P < .05), whereas cytoplasmic ING5 was positively associated with depth of invasion, venous invasion, lymph node metastasis, and clinicopathologic staging (P < .05). It was suggested that aberrant ING5 expression may contribute to pathogenesis, growth, and invasion of gastric carcinomas and could be considered as a promising marker to gauge aggressiveness and prognosis of gastric carcinoma																					
20182888	ING5	Aberrant Expression	Head and Neck Squamous Cell Carcinoma	Nuclear expression of ING5 in HNSCC was significantly lower than that of non-cancerous epithelium, and was positively correlated with a well-differentiated status. In contrast, cytoplasmic expression of ING5 was significantly increased in HNSCC, and was inversely correlated with a well-differentiated status and nuclear ING5 expression.				p300; p21; PCNA	correlation	Nuclear expression of ING5 was positively correlated with p21 and p300 expression, and with the apoptotic index. In contrast, cytoplasmic expression of ING5 was negatively correlated with the expression of p300, p21, and PCNA.															
20131318	ING5	Mutation; Underexpression	Oral Squamous Cell Carcinoma	Three missense mutations located within leucine zipper like (LZL) finger and novel conserved region (NCR) domains in ING5 protein were detected, probably abrogating its normal function. Then, we examined mRNA level of ING5 by quantitative real time reverse transcription polymerase chain reaction (qRT-PCR) analysis, which demonstrated decreased expression of ING5 mRNA in 61% of the primary tumors as compared to the matched normal samples. In conclusion, tumor-specific mutation and downregulation of ING5 mRNA suggested it as a tumor suppressor gene in oral squamous cell carcinoma.																					
27259236	JARID2	Overexpression	Hepatocellular Carcinoma	This study found that JARID2 expression was significantly higher in HCC tissues than that in adjacent non-tumor liver tissues (ANLTs), and its expression level correlated with HCC metastasis.							EMT; AKT; PTEN	Positive regulation; Positive regulation; Negative regulation	Mechanistically, the data showed that JARID2 exerted its function by repressing PTEN expression through increasing H3K27 trimethylation (H3K27me3) at PTEN promoter region, which subsequently resulted in activation of protein kinase B (AKT) and enhanced epithelial-mesenchymal transition (EMT).												
25939703	JARID2	Underexpression	Leukemia	JARID2 is down-regulated in B-chronic lymphocytic leukemia (B-CLL) and acute monocytic leukemia (AMOL)							CCDN1	Negative regulation	Mechanistic studies show that JARID2 negatively regulates CCND1 expression by increasing H3K27 trimethylation on the CCND1 promoter.												
27449083	HDAC10	Overexpression	Lung Carcinoma	n this study, we found that HDAC10 is highly expressed in lung cancer tissues. It resides mainly in the cytoplasm of lung cancer cells but resides in the nucleus of adjacent normal cells.																					
25482492	HDAC10	Overexpression	Human Myeloma	In HMCL, HDAC1-3 and 8 (Class I), and HDAC5 and HDAC10 (Class II) were significantly upregulated compared to normal PC.																					
25337229	HDAC10	Underexpression	Gastric Carcinoma	As a result, we found that expression of HDAC10 in gastric cancer was significantly decreased in gastric cancer tissues as compared with adjacent tissues (51.4% vs. 87.3%, P < 0.001).																					
25822021	PCGF2	Underexpression	Breast Carcinoma	Here, we demonstrated that MEL-18 loss contributes to the hormone-independent phenotype of breast cancer by modulating hormone receptor expression. In multiple breast cancer cohorts, MEL-18 was markedly downregulated in triple-negative breast cancer (TNBC).							ER-α; PR	positive regulation	MEL-18 loss in luminal breast cancer cells resulted in the downregulation of expression and activity of ER-α and the progesterone receptor (PR)												
24964959	PCGF2	Underexpression	Colorectal Carcinoma	We found that overall Mel-18 mRNA expression in the CRC tissue was significantly lower than in the noncancerous mucosal tissue (p=0.007, Wilcoxon matched-pairs signed-ranks test).																					
21059209	PCGF2	Underexpression	Gastric Carcinoma	Expression of Mel-18 and Bmi-1 genes was variably detected, but overexpression of Bmi-1 mRNA and decreased expression of Mel-18 mRNA were the most frequent alteration.																					
20717685	PCGF2	Overexpression	Medulloblastoma	We found that the higher expression levels of BMI1 and PCGF2 genes were associated with significantly decreased patient survival (p = 0.02 and p = 0.012, respectively).																					
20444850	PCGF2	Underexpression	Breast Carcinoma	The decreased Mel-18 expression is incremental depending upon the magnitude of cancer progression (P < 0.001).																					
19585577	PCGF2	Underexpression	Prostate Carcinoma	Immunohistochemistry revealed that Mel-18 expression was diminished in high grade and high stage prostate cancers.																					
19395284	PCGF2	Underexpression	Prostate Carcinoma	Mel-18 expression was significantly reduced in the prostate cancer patients with PSA levels over 100 ng/ml (P=0.009), advanced clinical stage (>T4, N1, or M1 disease, P=0.029), higher Gleason grade or with a higher Gleason score (P=0.018) than in those with other clinicopathologic features.																					
12196719	PCGF2	Underexpression	Breast Carcinoma	We found that most cell lines examined here showed decreased expression of mel-18 mRNA, however, no alteration other than a single nucleotide change that did not lead to amino acid alteration in one patient was identified.																					
26141041	RING1	Overexpression	Hepatocellular Carcinoma	Compared with adjacent normal tissues, the level of Ring1 was significantly increased in HCC specimens. High expression of Ring1 was associated with histological grade (P = 0.011) and tumor size (P = 0.004), and Ring1 expression was positively related with the proliferation marker Ki-67 (P < 0.001).																					
24414991	RING1	Overexpression	Lung Carcinoma	We showed that the expression level of RING1 was significant increased in lung cancer as compared with the adjacent normal tissue. High expression level of RING1 was associated with TNM stage (P=0.013), and RING1 was positively related with proliferation marker Ki67 (P<0.05).				Ki67	Positive correlation	High expression level of RING1 was associated with TNM stage (P=0.013), and RING1 was positively related with proliferation marker Ki67 (P<0.05).															
17134822	RING1	Overexpression	Prostate Carcinoma	Expression of EZH2, BMI1 and RING1 were all significantly enhanced in tumours with Gleason score (GS) > or = 8, extraprostatic extension, positive surgical margins, and PSA recurrence.																					
14742259	RING1	altered expression	Lymphoma	We show that primary nodal large B-cell lymphomas (LBCLs), and secondary cutaneous deposits from such lymphomas, abnormally express the BMI-1, RING1, and HPH1 PcG genes in cycling neoplastic cells.																					
25377162	SMARCA5	Overexpression	Breast Carcinoma	In the present study, we found that SMARCA5 was overexpressed in breast cancer specimens by immunohistochemistry.				Rsf-1	Correlation	SMARCA5 overexpression also correlated with Rsf-1 expression levels															
18519663	SMARCA5	Overexpression	Ovarian Carcinoma	Based on immunohistochemistry, we found that Rsf-1 and hSNF2H were co-upregulated in ovarian cancer tissues.																					
27311868	EZH1	Underexpression	Mantle Cell Lymphoma	B-cell neoplasms showed a significant over-expression of EZH2, EED and SUZ12 in the aggressive subtypes compared to the indolent subtypes and normal tissue (p = 0.000-0.046) while expression of EZH1 was decreased in mantle cell lymphoma compared to normal tissue (p = 0.011).																					
26884084	FTO	Overexpression	Endometrial Carcinoma	We found that FTO was overexpressed in endometrial carcinoma tissues and served as a poor prognostic marker.																					
26722548	FTO	Overexpression	Breast Carcinoma	The expression level of FTO in breast cancer tissues was significantly higher than that in the adjacent breast tissues (P < 0.001).																					
22222214	FTO	Overexpression	Endometrial Carcinoma	IHC staining showed that FTO overexpressed in endometrial carcinoma.																					
23736028	EPC1	mutation	Leukemia; Lymphoma	EPC1-ASXL2 gene fusion occurs in adult T-cell leukaemia/lymphoma.				ASXL2	Fusion	EPC1-ASXL2 gene fusion occurs in adult T-cell leukaemia/lymphoma.															
21836477	EPC1	mutation	Endometrial Carcinoma	Rearrangements of JAZF1, SUZ12, PHF1, and EPC1 have been reported in endometrial stromal nodules (ESNs), endometrial stromal sarcomas (ESSs), and rarely in undifferentiated endometrial sarcomas (UESs). Rearrangements were detected in 42 of 78 (54%) uterine ESTs, with JAZF1-SUZ12 fusion found in 50% of ESNs and in 33% of ESSs and JAZF1-PHF1 and EPC1-PHF1 fusions found in 1% and <1% of ESSs, respectively.				PHF1	Fusion	Rearrangements were detected in 42 of 78 (54%) uterine ESTs, with JAZF1-SUZ12 fusion found in 50% of ESNs and in 33% of ESSs and JAZF1-PHF1 and EPC1-PHF1 fusions found in 1% and <1% of ESSs, respectively.															
26207617	KDM2A	Overexpression (copy number gain)	Breast Carcinoma	Two KDMs, KDM2A and KDM5B, had the highest frequency of genetic amplification and overexpression. Furthermore, among the 24 KDM genes, KDM2A had the highest correlation between copy number and mRNA expression, and high mRNA levels of KDM2A were significantly associated with shorter survival of breast cancer patients.																					
25029110	KDM2A	Overexpression	Breast Carcinoma	Here we show that KDM2A is strongly expressed in myoepithelial cells (MEPC) in breast cancer tissues by immunohistochemistry.																					
25245333	KDM2A	Overexpression	Gastric Carcinoma	Here, it was found that the expression level of KDM2A was increased in gastric cancer tissues.																					
22086844	KDM2B	Overexpression	Acute Myeloid Leukemia	In AML cell lines and AML-derived ALDH(hi) (high aldehyde dehydrogenase activity)/CD34(+) cells, the levels of JHDM1B mRNA were significantly higher than in normal ALDH(hi) /CD34(+) cells. Compared to normal ALDH(hi) /CD34(+) cells, JHDM1B gene expression was 1.57- to 1.87-fold higher in AML-derived ALDH(hi) /CD34(+) cells.																					
25920810	KAT6B	Mutation	Leukemia	The human KAT6A and KAT6B genes are recurrently mutated in leukemia, non-hematologic malignancies, and multiple developmental disorders displaying intellectual disability and various other abnormalities.																					
26208904	KAT6B	Loss of expression (copy number loss)	Small Cell Lung Cancer	Herein, we have identified the presence of homozygous deletions of the candidate histone acetyltransferase KAT6B, and the loss of the corresponding transcript, in SCLC cell lines and primary tumors.																					
15147375	KAT6B	mutation	Acute Myeloid Leukemia	We report a novel fusion of the MYST4 and CBP genes in an acute myeloid leukaemia (AML)-M4 patient exhibiting t(10;16)(q22;p13) and t(11;17)(q23;q21). The t(10;16)(q22;p13) resulted in a rearrangement, where MYST4-CBP and CBP-MYST4 chimaeric transcripts were products of in-frame fusions of MYST4 exon 17 to CBP exon 6 and CBP exon 4 to MYST4 exon 18 respectively.																					
12619164	KAT6B	mutation	Acute Myeloid Leukemia	t(10;16)(q22;p13) and MORF-CREBBP fusion is a recurrent event in acute myeloid leukemia. Recently, it was shown that t(10;16)(q22;p13) fuses the MORF and CREBBP genes in a case of childhood acute myeloid leukemia (AML) M5a, with a complex karyotype containing other rearrangements.																					
11157802	KAT6B	mutation	Acute Myeloid Leukemia	RT-PCR using MORF forward and CBP reverse primers amplified a MORF-CBP fusion in which nucleotide 3103 of MORF was fused in-frame with nucleotide 284 of CBP. Nested RT-PCR with CBP forward and MORF reverse primers generated a CBP-MORF transcript in which nucleotide 283 of CBP was fused in-frame with nucleotide 3104 of MORF.																					
27641337	INO80	Overexpression	Non-Small Cell Lung Cancer	Ino80, the SWI/SNF ATPase in the complex, is highly expressed in NSCLC cells compared with normal lung epithelia cells.																					
27340176	INO80	Overexpression	Melanoma	The expression of Ino80, the SWI/SNF ATPase, is elevated in melanoma cells and patient melanomas compared with normal melanocytes and benign nevi.																					
26397136	KDM4B	Overexpression	Endometrial Carcinoma	In clinical specimens, both KDM4B and KDM4A expression are significantly higher in EC tissues than that in normal endometrium.																					
26101715	KDM4B	Overexpression	Breast Carcinoma	We demonstrated that KDM4A and D are also significantly overexpressed in basal-like breast cancer, whereas KDM4B overexpression is more dominant in estrogen-receptor-positive, luminal breast cancer.																					
25636512	KDM4B	Overexpression	Osteosarcoma	JMJD2B and JMJD2C were up-regulated in osteosarcoma tissues when compared to paired adjacent non-tumor tissues.																					
25533242	KDM4B	Overexpression	Hepatocellular Carcinoma	These results reveal that JMJD2B is dramatically upregulated in HCC, making it a potential diagnostic marker for the further development of HCC treatment therapies.				Ki-67	correlation	Moreover, JMJD2B was also correlated with Ki-67 expression in HCC samples.															
24077348	KDM4B	Overexpression	Gastric Carcinoma	The expression of JMJD2B was positively correlated with tumor size (P = 0.017), differentiation status (P = 0.002), tumor invasion (P = 0.045), lymph node metastasis (P = 0.000), distant metastasis (P = 0.024), and tumor-node-metastasis (TNM) stage (P = 0.002) in patients with gastric cancer.																					
22745382	KDM4B	Overexpression	Colorectal Carcinoma	We also showed that JMJD2B was overexpressed in CRC tissues and positively correlated with expression of the hypoxic marker carbonic anhydrase 9 (CA9), deeper depth of invasion and advanced clinical stages.																					
21930796	KDM4B	Overexpression	Bladder Carcinoma; Lung Carcinoma	Quantitative real-time PCR showed notably elevated levels of JMJD2B expression in bladder cancers, compared with corresponding nonneoplastic tissues (P < 0.0001), and elevated protein expression was confirmed by immunohistochemistry; In addition, cDNA microarray analysis revealed transactivation of JMJD2B in lung cancer, and immunohistochemical analysis showed protein overexpression in lung cancer.																					
21445275	KDM4B	Overexpression	Breast Carcinoma	JMJD2B is expressed in a high proportion of human breast tumors, and that expression levels significantly correlate with estrogen receptor (ER) positivity.	E2	positive regulation	In addition, 17-beta-estradiol (E2) induces JMJD2B expression in an ERα dependent manner.	ERα	Interaction	JMJD2B interacts with ERα and components of the SWI/SNF-B chromatin remodeling complex.	MYB; MYC; CCND1	positive regulation	JMJD2B is recruited to ERα target sites, demethylates H3K9me3 and facilitates transcription of ER responsive genes including MYB, MYC and CCND1.												
25963978	NIPBL	Overexpression	Non-Small Cell Lung Cancer	Immunohistochemical analysis showed that high expression of NIPBL was strongly correlated with poor prognosis, tumor differentiation, and lymph node metastasis.							STAT3	regulation	NIPBL bound to the promoter region of the STAT3 gene, directly regulating the expression of STAT3.												
27715462	KAT8	Underexpression	Gastric Carcinoma	Reduced hMOF activity was detected in GC tissues, which could be restored by CAP both in vivo and in vitro.																					
26032517	KAT8	Overexpression	Oral Tongue Squamous Cell Carcinoma	Real time PCR and western blot analysis were applied, and it was found that hMOF level was up-regulated in human OTSCC	EZH2	positive regulation	Moreover, we have demonstrated that EZH2 was critically essential for function of hMOF in human OTSCC.																		
25873202	KAT8	Underexpression	Gastric Carcinoma	Statistical analysis of the qRT-PCR data revealed that a significant reduction (>2-fold decreased) of hMOF expression in gastric cancer tissues in 81% (42/52) of patients.																					
25483274	KAT8	Underexpression	Ovarian Carcinoma	Compared with normal ovarian tissues, hMOF mRNA and protein expression was significantly decreased in ovarian epithelial cancer tissues.																					
25181338	KAT8	Underexpression	Hepatocellular Carcinoma	Here we find that the expression of hMOF is significantly down-regulated in human hepatocellular carcinoma and cell lines.							SIRT6	regulation	Mechanically, we show that hMOF regulates the expression of SIRT6 and its downstream genes.												
24571482	KAT8	Overexpression	Non-Small Cell Lung Cancer	hMOF was overexpressed in human NSCLC tissues and was associated with large tumour size, advanced disease stage and metastasis, and with poor prognosis.				Nrf2 downstream genes	Positive correlation	hMOF levels were positively correlated with Nrf2-downstream genes.															
24452485	KAT8	Underexpression	Colorectal Carcinoma; Gastric Carcinoma; Renal Cell Carcinoma	Statistical analysis of qPCR data revealed a significant reduction (>2-fold decrease) of hMOF gene expression in CRC, 57% (25/44), 94% (15/16) in gastric cancer and 74% (35/47) in RCC tissues of the patients.																					
24137335	KAT8	Underexpression	Ovarian Carcinoma	A PCR analysis of mRNA expression in 47 samples revealed a downregulation of hMOF mRNA in 81% of patients, whereas only 13% of patients demonstrated upregulation.							HCP5	positive regulation	Furthermore, the expression of hMOF-regulated human leukocyte antigen (HLA) complex 5, (HCP5), was also found to be downregulated in >87% of patients with a decrease in hMOF. hMOF and its regulated gene, HCP5, are frequently downregulated in human ovarian cancer, suggesting that hMOF may be involved in the pathogenesis of the disease.												
23628702	KAT8	Overexpression	Non-Small Cell Lung Cancer	In this study, hMOF was found to be more frequently highly expressed in non-small cell lung cancer (NSCLC) than corresponding normal tissues (P < 0.001).							Skp2	regulation	Moreover, hMOF promotes S phase entry via Skp2.												
23394073	KAT8	Underexpression	Renal Cell Carcinoma	RT-PCR results indicate that hMOF gene expression levels frequently downregulated in 90.5% of patients (19/21) with RCC.																					
18058815	KAT8	Underexpression	Breast Carcinoma; Medulloblastoma	In contrast to nontransformed control tissues, significant fractions of both primary breast carcinomas and medulloblastomas showed markedly reduced hMOF mRNA and protein expression. For medulloblastoma, downregulation of hMOF protein expression was associated with lower survival rates identifying hMOF as an independent prognostic marker for clinical outcome in univariate as well as multivariate analyses.																					
25663945	PRDM14	copy number gain	Lung Carcinoma	The most frequently amplified genes were ZNF703, PRDM14 and MYC on chromosome 8 and the BIRC5 gene on chromosome 17. Amplification of the ZNF703, PRDM14 and MYC genes were highly correlated suggesting that the genes displaying high copy number changes on chromosome 8 collaborate during lung carcinogenesis.				ZNF703; MYC	correlation	Amplification of the ZNF703, PRDM14 and MYC genes were highly correlated suggesting that the genes displaying high copy number changes on chromosome 8 collaborate during lung carcinogenesis.															
25635434	PRDM14	Overexpression	Non-Small Cell Lung Cancer	As a novel molecular marker of non-small cell lung cancer (NSCLC), PRDI-BF1 and RIZ homology domain containing protein 14 (PRDM14) is over-expressed in NSCLC tumor tissues.																					
23690269	PRDM14	Overexpression	Non-Small Cell Lung Cancer	PRDM14 was found to be increased expression in 35.65 % cases (46/129) for primary tumors and 39.68 % cases (25/63) for paired metastatic lymph nodes. Increased expression of PRDM14 correlated with differentiation of tumor cells significantly (P = 0.008).																					
20840815	PRDM14	altered expression	Non-Small Cell Lung Cancer	The positive cytoplasmic expression of PRDM14 in highly differentiated NSCLC, the low expression of PRDM14 in poorly differentiated NSCLC. The results of Western blot showed that there were significant difference between the two groups (P<0.001); expression of PRDM14 was conspicuous in NSCLC specimens but low in paracancerous tissues.																					
17942894	PRDM14	Overexpression	Breast Carcinoma	We found that PRDM14 mRNA is overexpressed in about two thirds of breast cancers; moreover, immunohistochemical analysis showed that expression of PRDM14 protein is also up-regulated.																					
25613750	PRDM5	Underexpression	Colorectal Carcinoma	PRDM5 protein expression was substantially down-regulated in both BRAF mutant and wild type cancer cohorts (92/97,95% and 39/44,89%).																					
24395656	PRDM5	Mutation; Underexpression	Lung Squamous Cell Carcinoma	We found that PRDM5 promoter was methylated and PRDM5 expression at both mRNA and protein levels was reduced in lung squamous cell carcinoma tissues.																					
20213097	PRDM5	Underexpression (hypermethylation)	Cervical Carcinoma	PRDM5 expression is reduced or lost in cervical cancers, compared with normal cervical tissues (P < 0.05). The current study results also showed that loss of PRDM5 is mediated by aberrant cytosine methylation of the PRDM5 promoter. PRDM5 mRNA expression was significantly higher (P = 0.000) in unmethylated (0.2634 ± 0.0674, mean ± SD), compared with methylated tissues (0.1007 ± 0.0993, mean ± SD).																					
17699856	PRDM5	Underexpression (hypermethylation)	Colorectal Carcinoma; Gastric Carcinoma	Among the 17 PRDM family genes tested, we found that PRDM5 is the most frequently silenced in colorectal and gastric cancer cell lines. Silencing of PRDM5 was mediated by either DNA methylation or trimethylation of Lys(27) of histone H3.																					
27066097	TRRAP	Underexpression	Breast Carcinoma	The data demonstrated that expression of TRRAP was significantly lower in breast carcinomas (36.6%) than in corresponding normal breast tissues (50.8%).																					
24349473	TRRAP	Mutation	Splenic Marginal Zone Lymphoma	In additional to providing independent validation of the presence of mutation in several previously reported genes (NOTCH2, TNFAIP3, MAP3K14, MLL2 and SPEN), our study defined eight additional recurrently mutated genes in SMZL; these genes are CREBBP, CBFA2T3, AMOTL1, FAT4, FBXO11, PLA2G4D, TRRAP and USH2A.																					
22237626	TRRAP	Mutation	Melanoma	Aim1 and Trrap mutations known to be altered in human melanoma were included among those found.																					
27531902	EHMT2	Overexpression	Pancreatic Carcinoma	Finally, we showed that overexpression of G9a correlated with poor survival and early recurrence in pancreatic cancer patients.																					
27081761	EHMT2	Overexpression	Gastric Carcinoma	G9a and H3K9 me2 expression was higher in gastric cancer cells compared to the control (p<0.05). Both G9a and H3K9 me2 were positively correlated with the degree of differentiation, depth of infiltration, lymphatic invasions and tumor-node-metastasis stage in gastric carcinoma, (p<0.05).																					
26765460	EHMT2	Overexpression	Hepatocellular Carcinoma	TNM stage, elevated alpha-fetoprotein level, and G9a overexpression were associated with worse outcomes.High expression of G9a was associated with worse outcomes, indicating that G9a may serve as a prognostic biomarker for patients with HCC who undergo surgical resection.																					
25115793	EHMT2	Overexpression	Ovarian Carcinoma	We found that the expression of histone methyltransferase G9a was highly correlated with late stage, high grade, and serous-type OCa. Higher G9a expression predicted a shorter survival in ovarian cancer patients.																					
25027955	EHMT2	Overexpression	Head and Neck Squamous Cell Carcinoma	G9a expression is positively correlated to proliferation marker Ki-67 and to poor prognosis in HNSCC patients.																					
24966962	EHMT2	Overexpression	Hepatocellular Carcinoma	Results of TMA-based IHC staining showed proteins of ARK2, EZH2, G9a, and SUV39H2 also overexpressed in tumor tissues.																					
24805087	EHMT2	Overexpression	Oesophagal Squamous Cell Carcinoma	G9a overexpression independently predicted poor cancer-specific survival in OSCC (hazard ratio 0.05, 95% confidence interval 0.006-0.417, P = 0.006)				MCM7	correlation	From tissue microarray immunohistochemistry staining results, we found that nuclear staining intensity for MCM7 and G9a was associated with histological grade (both P < 0.001), tumour depth (P = 0.050, 0.034), lymph node metastasis (P = 0.001, 0.009) and tumour stage (P < 0.001, =0.003). G9a expression was correlated with that of MCM7.															
23629948	EHMT2	Overexpression	Hepatocellular Carcinoma	In hepatocellular carcinomas (HCCs), the levels of histone H3 dimethylation at lysine 9 (H3K9me2) and its corresponding histone methyltransferase G9a are significantly elevated.				h-CDYLb	correlation	Furthermore, the positive correlation between expression levels of h-CDYLb and G9a was statistically significant. These findings suggest that h-CDYLb and G9a are cooperatively involved in HCC.															
21847359	EHMT2	Overexpression	Bladder Carcinoma	Expression levels of EHMT2 are significantly elevated in human bladder carcinomas compared with nonneoplastic bladder tissues (P < .0001) in real-time polymerase chain reaction analysis.																					
17584191	EHMT2	Overexpression	Hepatocellular Carcinoma	Consistent with the alteration of histone status, higher expression of G9a and EZH2 was found in HCC than in non-cancerous liver tissues (P < 0.01).																					
20049841	HDAC1	Overexpression	Ovarian Carcinoma	The results indicated that the immunohistochemical expression of nuclear HDAC1, HDAC2 and HDAC3 proteins increased stepwise in benign, borderline and malignant tumors.																					
25043306	PHF2	Underexpression	Colon Carcinoma; Gastric Carcinoma	PHF2 was downregulated in cancer tissues and PHF2 correlated with p21 in cancers expressing functional p53. Informatics analyses using the Oncomine database also supported our notion that PHF2 is downregulated in colon and stomach cancers.				p21	correlation	Colon and stomach cancer tissue arrays showed a positive correlation between PHF2 and p21 expressions.															
22534467	PHF2	Overexpression	Oesophagal Squamous Cell Carcinoma	Our results showed that JARID1B and PHF2 were overexpressed in ESCCs. Kaplan-Meier survival analysis showed a tendency that high cytoplasmic expression of JARID1B and PHF2 was associated with decreased overall survival of ESCC patients, whereas JARID1B high expression in the nucleus was associated with high overall survival, although there was no statistical significance.																					
21861228	PHF2	genetic alteration	Head and Neck Squamous Cell Carcinoma	However, PHF2 alteration was low in mild dysplasia, but increased in moderate and severe dysplasias.																					
18990233	PHF2	genetic alteration	Breast Carcinoma	Either age group exhibited high frequency of overall alterations in PHF2, FANCC and PTCH1 compared to XPA.																					
15563832	PHF19	Overexpression	Colon Carcinoma; Melanoma; Lung Carcinoma; Rectal Carcinoma; Cervical Carcinoma; Malignant Uterine Neoplasm; Liver Carcinoma	Interestingly, the products of the hPCL3 gene, particularly the short form, hPCL3S, are markedly overexpressed in many types of cancers, including colon, skin, lung, rectal, cervical, uterus, and liver cancers. This increase in expression correlated with tumor progression																					
26824986	SETDB1	Mutation	Malignant Pleural Mesothelioma	The frequent SETDB1 inactivating mutations suggest there could be new diagnostic or therapeutic options for MPM.																					
26542178	SETDB1	Overexpression	Non-Small Cell Lung Cancer	Univariate followed by multivariate Cox analysis showed that higher levels of BRCA1 and SETDB1 expression were significantly associated with shorter disease-free survival in stage I NSCLC patients.																					
26536195	SETDB1	copy number gain	Non-Small Cell Lung Cancer	NKX2-1, SETDB1, MET, HER2, SOX2, FGFR1, and PIK3CA gene amplification were observed in 30 of 277 (10.8%), 16 of 280 (5.7%), 38 of 278 (13.7%), 8 of 270 (3.0%), 34 of 278 (12.2%), 18 of 282 (6.4%), and 53 of 278 (19.1%) cases, respectively.																					
26481868	SETDB1	Overexpression	Hepatocellular Carcinoma	Up-regulation of SETDB1 was significantly associated with HCC disease progression, cancer aggressiveness, and poorer prognosis of HCC patients.																					
26471002	SETDB1	Overexpression (copy number gain)	Hepatocellular Carcinoma	We show that in hepatocellular carcinoma (HCC) SETDB1 is overexpressed with moderate copy number gain, and GOF TP53 mutations including R249S associate with this overexpression.				R249S; p53	Association; Complex formation	We show that in hepatocellular carcinoma (HCC) SETDB1 is overexpressed with moderate copy number gain, and GOF TP53 mutations including R249S associate with this overexpression; Moreover, SETDB1 forms a complex with p53 and catalyses p53K370 di-methylation.	p53K370	regulation	Moreover, SETDB1 forms a complex with p53 and catalyses p53K370 di-methylation.												
24844570	SETDB1	Overexpression	Hepatocellular Carcinoma	Immunohistochemistry identified high levels of H3K9me3 and ESET proteins in 23 (54.8%) and 29 (69.0%) tumor tissues, respectively.																					
24658378	SETDB1	Overexpression	Melanoma	Overexpression of EHMT2, SETDB1, and LSD1 was observed in 14 (21%), 38 (57%), and 53 (79%) of the 67 patients, respectively. A significant relationship was observed between overexpression of EHMT2 or SETDB1 and aggressive tumor behavior such as lymph node metastasis and/or distant metastasis (P < 0.05), whereas no significant relationship was evident for LSD1 immunoreactivity.																					
24556744	SETDB1	Overexpression	Prostate Carcinoma	The results suggested that SETDB1 was upregulated in human PCa tissues compared with normal tissues at the mRNA and protein levels.																					
23943221	SETDB1	Overexpression	Glioma	SUV39H1 and SETDB1 expression was upregulated in glioma cell lines (GOS-3, 1321N1, T98G, U87MG) and in glioma tissues compared to normal brain being positively correlated with grade and histological malignancy.																					
24200674	PRMT6	Overexpression	Prostate Carcinoma	SMYD3, SUV39H2, PRMT6, KDM5A, and KDM6A were upregulated, whereas KMT2A-E (MLL1-5) and KDM4B were downregulated in PCa, compared with normal prostate tissues.																					
23265702	PRMT6	Underexpression	Melanoma	Our findings demonstrate that expression of PRMT4/CARM1 and PRMT6 is deregulated in melanoma, whereas expression of the remaining PRMTs stays unchanged.																					
25609707	RUVBL2		Breast Carcinoma; Prostate Carcinoma; Osteoscaroma	We used proteomic analysis to identify RUNX2-dependent protein-protein interactions associated with the nuclear matrix in bone, breast and prostate tumor cell types and found that RUNX2 interacts with three distinct proteins that respond to DNA damage - RUVBL2, INTS3 and BAZ1B.				RUNX2	Interaction	We used proteomic analysis to identify RUNX2-dependent protein-protein interactions associated with the nuclear matrix in bone, breast and prostate tumor cell types and found that RUNX2 interacts with three distinct proteins that respond to DNA damage - RUVBL2, INTS3 and BAZ1B.															
24786788	RUVBL2		Breast Carcinoma	Mechanistic investigations implicated associations with TIP48/TIP49 as well as MYC in MTBP function in cellular transformation and the growth of human breast cancer cells.				MTBP	Interaction	Mechanistic investigations implicated associations with TIP48/TIP49 as well as MYC in MTBP function in cellular transformation and the growth of human breast cancer cells.															
22341977	RUVBL2	Overexpression	Renal Cell Carcinoma	Reptin is overexpressed in cancerous tissues compared with tumor adjacent renal tissues. Cytoplasmic expression of reptin positively correlates with the poor differentiation of RCC, and predicts an unfavorable outcome for patients.																					
20888340	RUVBL2	Overexpression	Breast Carcinoma	Reptin was also shown to be overproduced in a panel of primary breast cancer biopsy specimens, relative to normal adjacent tissue from the same patient, suggesting a role in cancer growth in vivo.																					
19877184	RUVBL2	Overexpression	Hepatocellular Carcinoma	We found that Reptin was up-regulated in hepatocellular carcinoma (HCC) and that down-regulation of Reptin led to growth arrest.																					
17657734	RUVBL2	Overexpression	Hepatocellular Carcinoma	RUVBL2 is overexpressed in a large majority of HCCs. RUVBL2 overexpression enhances tumorigenicity, and RUVBL2 is required for tumor cell viability.																					
24948597	SET1A	Overexpression	Colon Carcinoma	In this study, we found that HDAC1 and HDAC2 promoters are regulated through collaborative binding of transcription factors Sp1/Sp3 and epigenetic modulators, including histone H3K4 methyltransferase SET1 and histone acetyltransferase p300, whose levels are also elevated in colon cancer cell lines and patient samples.	Sp1; Sp3	positive regulation	In addition, Sp1/Sp3 recruits SET1 and p300 to the promoters.																		
26826421	SMYD2	Overexpression	Head and Neck Squamous Cell Carcinoma	Among 197 HPV-unrelated HNSCC cases, overexpression of SMYD2 protein was detected in 75 (60%) of 126 nonmultiple cases and 51 (70%) of 71 multiple cases.				p53	Interaction	In both nonmultiple and multiple groups, the combination of SMYD2 and p53 immunopositivity was a significant prognostic indicator (P = .027 and .015).															
26790435	SMYD2	Overexpression	Chronic Lymphocytic Leukemia	We found that SMYD2 and SMYD3 are overexpressed in CLL patients and, interestingly, patients with residual expression of both genes presented a high WBC count and complex karyotype.				SMYD3	Correlation	Furthermore, a strong correlation between SMYD2 and SMYD3 gene expression was unveiled. Our data demonstrate the association of a residual expression of SMYD2 and SMYD3 with CLL progression indicators and suggests both genes are regulated by a common transcriptional control in this type of cancer.															
25321194	SMYD2	Overexpression	Gastric Carcinoma	Patients with SMYD2-overexpressing tumours had a worse overall rate of survival than those with non-expressing tumours (P=0.0073, log-rank test) in an intensity and proportion score-dependent manner.																					
24631370	SMYD2	Overexpression	Acute Lymphocytic Leukemia	The study revealed that SMYD2 expression is altered in ALL BMS and its high expression was correlated with a bad prognosis.																					
19423649	SMYD2	Overexpression	Oesophagal Squamous Cell Carcinoma	Overexpression of SMYD2 protein was frequently detected in primary tumor samples of ESCC (117/153 cases, 76.5%) as well and significantly correlated with gender, venous invasion, the pT category in the tumor-lymph node-metastases classification and status of recurrence.																					
20512085	SMYD2	Underexpression	Laryngeal Carcinoma	The coherent low Sp100 expression of both transcriptional and translational levels were confirmed in the malignant tissues compared to the normal mucosa, and the expression was down-regulated among the well-, moderately- and poorly-differentiated cancer cells accordingly.																					
25148870	ELP3	Underexpression (hypermethylation)	Breast Carcinoma	Aberrant gene methylation was observed as follows: ARRDC3 in 38.5 %, ELP3 in 73.1 %, GATA5 in 48.1 %, and PAX6 in 50.0 % of IDCs. mRNA expression of ARRDC3, ELP3, and GATA5 in IDCs showed a lower level than that in MNTs (P < 0.001, P = 0.001 and P < 0.001, respectively). For ELP3 and GATA5, methylated tumors only showed significantly lower expression values compared to MNTs (P = 0.001 and P < 0.001, respectively).																					
22740850	ELP3	Underexpression	Endometrioid Adenocarcinoma	In patients with endometrioid adenocarcinoma, a low ELP3 expression was correlated to a high T-factor (p=0.036), tumor stage (p=0.001), lymph node metastasis (p<0.001), resistance to chemotherapy (p=0.045), recurrence (p=0.004) and poor prognosis (p=0.003).																					
27694893	TBL1XR1	Overexpression	Gastric Carcinoma	Here, we find that TBL1XR1 is aberrantly expressed in human GC tissues, and TBL1XR1 levels are highly correlated with local tumour invasion, late tumor, lymph node, metastasis (TNM) stage and poor prognosis.	β-catenin; MMP7; EGFR	positive regulation	Moreover, TBL1XR1 mediated ERK1/2 activation is dependent on the β-catenin/MMP7/EGFR signalling pathway.																		
27672238	TBL1XR1	Overexpression	Gastric Carcinoma	Analysis of GSE2701 showed that the mRNA levels of TBL1XR1 were significantly elevated in primary gastric tumor and lymph node tissues than normal gastric tissues (P < 0.05). 204 of 334 (60.1%) primary gastric cancer tissues showed high expression of TBL1XR1 protein.																					
27127173	TBL1XR1	Aberrant expression	Prostate Carcinoma	When comparing androgen-dependent (AD) to androgen-independent (AI) PCa, AI cells contain very high levels of TBLR1 cytoplasmic expression and low levels of nuclear expression. Additionally, we identified a cytoplasmic specific isoform of TBLR1 (cvTBLR1) approximately 5 kDa lower in molecular weight, that is expressed at higher levels in AI PCa cells.																					
26899600	TBL1XR1	Mutation	Breast Carcinoma	For breast cancer, we identified a significant MEGS consisting of TP53 and four infrequently mutated genes (ARID1A, AKT1, MED23, and TBL1XR1), providing support for their role as cancer drivers.																					
26386862	TBL1XR1	Overexpression	Hepatocellular Carcinoma	TBLR1 mRNA in HCC tissue was markedly higher (P<0.001) than that in ANT. High expression of TBLR1 is closely related to serum alpha fetoprotein (P=0.047), BCLC stage (P<0.001), maximum size of tumors (P<0.001), tumor embolus (P<0.001), and histological grade (P<0.001).																					
26111727	TBL1XR1	Mutation	Lymphoma	The results showed that 68 out of 71 PCNSLs had mutations in the NF-κB gene network, most commonly affecting CD79B (83%), MYD88 (76%), TBL1XR1 (23%), PRDM1 (20%) and CREBBP1 (20%).																					
25341494	TBL1XR1	Overexpression	Breast Carcinoma	TBLR1 was significantly upregulated in breast cancer cells and tissues compared to normal control samples. Immunohistochemical analysis revealed high expression of TBLR1 in 113 of 214 (52.8%) paraffin-embedded archival breast cancer.				pRb; β-catenin	Positive correlation	We found that TBLR1 expression was implicated in the upregulation of cyclin D1, phosphorylation of cell-cycle control protein Rb (pRb) and activation of β-catenin signaling in breast cancer.															
25145705	TBL1XR1	Overexpression	Nasopharyngeal Carcinoma	Upregulation of TBL1XR1 induces NPC cells resistance to cisplatin by activating the NF-κB pathway, and correlates with poor overall survival of NPC patients.																					
24970810	TBL1XR1	Mutation	Lymphoma	Focused resequencing in the larger cohort revealed high mutation rates for genes already described as mutated in PCNSL such as MYD88 (38%), CD79B (30%), PIM1 (22%) and TBL1XR1 (19%) and for genes not previously reported to be involved in PCNSL tumorigenesis such as ETV6 (16%), IRF4 (14%), IRF2BP2 (11%) and EBF1 (11%).																					
24874481	TBL1XR1	Overexpression	Cervical Carcinoma	The expression of TBLR1 in cervical cancer cell lines and tissues was significantly upregulated at both the RNA and protein levels compared with that in normal cervical cells.																					
24667177	TBL1XR1	Overexpression	Oesophagal Squamous Cell Carcinoma	TBL1XR1 expression was significantly upregulated in ESCC, positively correlated with disease stage and patient survival, and identified as an independent prognostic factor for patient outcome.																					
24243687	TBL1XR1	Underexpression	Prostate Carcinoma	Similarly, in human tumor samples, the expression of TBLR1 in the nucleus is significantly reduced in the malignant glands compared with the surrounding benign prostatic glands (P<0.005).																					
22837180	TBL1XR1	Mutation 	Lymphoma	Sequencing of matched tumor and blood DNA samples identified novel somatic mutations in MYD88 and TBL1XR1 in 38% and 14% of the cases, respectively.																					
22496164	TBL1XR1	mutation	Lymphoma	Here we report the discovery of a gene fusion between TBL1XR1 and TP63, the only recurrent somatic novel gene fusion identified in our analysis of transcriptome data from 96 DLBCL cases.				TP63	Fusion	Here we report the discovery of a gene fusion between TBL1XR1 and TP63, the only recurrent somatic novel gene fusion identified in our analysis of transcriptome data from 96 DLBCL cases.															
18767146	TBL1XR1	Underexpression (copy number loss)	Lymphoblastic Leukemia	Focal deletions of TBL1XR1 were observed in 15% of cases; 3 patients exhibited deletions distal to the gene. Fluorescence in situ hybridization confirmed these deletions and quantitative RT-PCR showed that the TBL1XR1 gene was significantly under-expressed.																					
17316888	TBL1XR1	Overexpression	Lung Squamous Cell Carcinoma	The elevated mRNA expression of RAP2B, CLDN1 and TBL1XR1, three genes located on chromosome 3q, were further validated in 64.3% (18/28), 82.1% (23/28), and 75.0% (21/28) of lung SCC tumour tissues, respectively, by quantitative real-time reverse transcription-PCR analysis.																					
27320920	WDR5	Overexpression	Pancreatic Carcinoma	Focusing on epigenetic regulators, we identified WDR5, a core member of the COMPASS histone H3 Lys4 (H3K4) MLL (1-4) methyltransferase complex, as a top tumor maintenance hit required across multiple human and mouse tumors.				H3K4	Complex formation	Focusing on epigenetic regulators, we identified WDR5, a core member of the COMPASS histone H3 Lys4 (H3K4) MLL (1-4) methyltransferase complex, as a top tumor maintenance hit required across multiple human and mouse tumors.															
26355959	WDR5	Overexpression	Breast Carcinoma	Our findings reveal that WDR5 over-expression is associated with poor breast cancer clinical outcome in three gene expression data sets and BreastMark.																					
24793694	WDR5	Overexpression	Prostate Carcinoma	Finally, WDR5 is critical in prostate cancer cell proliferation and is hyperexpressed in human prostate cancers.																					
25548695	KAT6A	mutation	Breast Carcinoma	AML with t (8;16) is a specific translocation leading to formation of a fusion protein (MYST3/CREBBP).				CREBBP	Fusion	AML with t (8;16) is a specific translocation leading to formation of a fusion protein (MYST3/CREBBP).															
24798186	KAT6A	mutation	Acute Myeloid Leukemia	FISH analysis indicated the presence of a KAT6A/CREBBP chimera.				CREBBP	Fusion	FISH analysis indicated the presence of a KAT6A/CREBBP chimera.															
22150308	KAT6A	Aberrant expression	Acute Myeloid Leukemia	Aberrant expression of these homeodomain transcription factors is found in AML with chromosomal translocations involving the MLL, MYST3 and CREBBP genes, and in a poor prognosis subset with normal cytogenetics.																					
20143402	KAT6A	Aberrant expression	Acute Myeloid Leukemia	MYST3 abnormalities were associated with acute myeloid leukemia (AML), M4 in three and M6 in one.																					
18754862	KAT6A	mutation	Acute Myeloid Leukemia	The protein MOZ (monocytic leukemia zinc finger protein) is a Myst (MOZ, Ybf2 (Sas3), Sas2, Tip60)-type histone acetyltranseferase (HAT) that generates fusion genes, such as MOZ-TIF2, MOZ-CBP and MOZ-p300, in acute myeloid leukemia (AML) by chromosomal translocation.				TIF2; CBP; p300	Fusion	The protein MOZ (monocytic leukemia zinc finger protein) is a Myst (MOZ, Ybf2 (Sas3), Sas2, Tip60)-type histone acetyltranseferase (HAT) that generates fusion genes, such as MOZ-TIF2, MOZ-CBP and MOZ-p300, in acute myeloid leukemia (AML) by chromosomal translocation.															
18528428	KAT6A	mutation	Acute Myeloid Leukemia	Twenty-eight cases carried t(8;16)(p11;p13) with MYST3-CREBBP fusion, one case carried a variant t(8;22)(p11;q13) and one case carried a t(8;19)(p11;q13). MYST3 rearrangement was associated with a poor prognosis, as 50% of patients deceased during the first 10 months.				CREBBP	Fusion	Type I (MYST3 exon 16-CREBBP exon 3) was the most frequent MYST3-CREBBP fusion transcript (65%).															
17805042	KAT6A	mutation	Acute Myeloid Leukemia	Reverse-transcription polymerase chain reaction showed the presence of 2 MOZ-TIF2 fusion transcripts.				TIF2	Fusion	Reverse-transcription polymerase chain reaction showed the presence of 2 MOZ-TIF2 fusion transcripts.															
17296583	KAT6A	mutation	Acute Myeloid Leukemia	Two types of MYST3-CBP and CBP-MYST3 fusion transcripts have been identified in patients.				CBP	Fusion	Two types of MYST3-CBP and CBP-MYST3 fusion transcripts have been identified in patients.															
11243405	KAT6A	mutation	Acute Myeloid Leukemia	We report the fusion of the MOZ gene to the p300 gene in acute myeloid leukemia with translocation t(8;22)(p11;q13). Analysis of fusion transcripts indicated that the zinc finger and acetyltransferase domains of MOZ are fused to a largely intact p300. These results suggest that MOZ-p300, which has two acetyltransferase domains, could be involved in leukemogenesis through aberrant regulation of histone acetylation.				p300	Fusion	Analysis of fusion transcripts indicated that the zinc finger and acetyltransferase domains of MOZ are fused to a largely intact p300.															
10862050	KAT6A	mutation	Acute Myeloid Leukemia	In the type I transcript, nucleotide (nt) 3,745 of MOZ was fused in-frame with nt 284 of CBP, whereas in the type II transcript, nt 3,745 of MOZ was fused out-of-frame with nt 997 of CBP.				CBP	Fusion	In the type I transcript, nucleotide (nt) 3,745 of MOZ was fused in-frame with nt 284 of CBP, whereas in the type II transcript, nt 3,745 of MOZ was fused out-of-frame with nt 997 of CBP.															
10469454	KAT6A	mutation	Acute Myeloid Leukemia	The breakpoints occur in the MOZ region encoding the acidic domain and in the 5' end of the CBP gene. These results provide further evidence for the multiple contribution of both MOZ and CBP genes in acute leukemias.				CBP	Fusion	These results provide further evidence for the multiple contribution of both MOZ and CBP genes in acute leukemias.															
27580131	BRD7	Underexpression	Lung Adenocarcinoma	In this study, we showed that the expression of BRD7 was downregulated in lung adenocarcinoma tissues and cells. The lower of BRD7 levels in patients with lung adenocarcinoma was associated with shortened disease-free survival.																					
26919247	BRD7	Underexpression	Hepatocellular Carcinoma	BRD7 was down-regulated in tumor tissues and HCC cell lines. Kaplan-Meier survival curves revealed higher survival rates in patients with higher BRD7 expression levels compared to those with lower BRD7 levels.																					
25743841	BRD7	Underexpression (hypermethylation)	Oral Squamous Cell Carcinoma	The identification of BRD7 promoter hypermethylation in 74% of well differentiated oral squamous cell carcinomas indicates that the methylation dependent silencing of BRD7 gene is a frequent event in carcinogenesis.																					
24198243	BRD7	Underexpression	Ovarian Carcinoma	The BRD7 expression was downregulated in the ovarian cancer tissues compared with normal (P < 0.05), high-grade serous cancer exhibited significantly decreased expression of BRD7 compared with low-grade (P < 0.01) serous cancer.							β-catenin pathway	Negative regulation	BRD7 negatively regulated β-catenin pathway, resulting in decreased its accumulation in the nucleus.												
24840027	BRD7	Underexpression	Human Osteosarcoma	Furthermore, there is a strong inverse correlation of protein levels between BRD7 and Cdh1 or Cdc20, and lower BRD7 expression is an indicator for poor prognosis in patients with osteosarcoma.																					
23215825	BRD7	Underexpression	Colorectal Carcinoma	BRD7 was down-regulated in colorectal cancer cell lines and cancerous tissues compared with that in normal colon epithelial cells and adjacent noncancerous tissue samples.																					
22008115	BRD7	Overexpression	Non-Small Cell Lung Cancer	BRD7 expression was significantly higher in cancer tissues than that in normal lung tissues. BRD7 is highly expressed in NSCLC.																					
18772500	BRD7	Overexpression	Acute Leukemia	The mRNA relative expression of BRD7 in patients with AL was higher than that of the control group (P=0.001).																					
27121319	TET1	Underexpression	Gastric Carcinoma	Herein, we found that TET1 expression and 5-hmC content were low in gastric tumors compared to its adjacent non-tumor tissues.																					
27014907	TET1	Underexpression	Prostate Carcinoma	TET1 protein levels were reduced in tumor versus non-tumor prostate tissue in 39 of 40 cases.																					
26973719	TET1	Aberrant expression	Parathyroid Carcinoma	A significantly higher tumor weight was associated to PAs displaying a more severe aberrant staining pattern of 5hmC and TET1.																					
26851753	TET1	Underexpression	Cervical Carcinoma	Moreover, expression of TET2, but not TET1 and TET3, was decreased in cervical squamous cell carcinoma.																					
26294212	TET1	altered expression	Breast Carcinoma	TET1/3 and 5hmC levels were closely associated with tumor hypoxia, tumor malignancy, and poor prognosis in breast cancer patients.																					
26253945	TET1	Underexpression	Breast Carcinoma	5 mC, 5 hmC, TET1-n, and TET2-n were significantly decreased during DCIS and IDC progression.																					
26207381	TET1	Underexpression	Breast Carcinoma	The level of TET1 mRNA was significantly related to overall survival (OS) (P = 0.022). Our study indicates that EBC patients with decreased expression of TET1 mRNA had worse OS and that the levels of TET3 and TDG mRNAs were independent prognostic factors for patients who received anthracycline chemotherapy.																					
26063725	TET1	Underexpression (hypermethylation)	Colorectal Carcinoma	The TET1 was silenced by DNA methylation in a subset of colorectal cancers as well as cell lines, expression of which was reactivated by demethylating agent.																					
25867473	TET1	Underexpression (hypermethylation)	Non-Hodgkin B cell lymphoma	Whole-exome sequencing of TET1-deficient tumors revealed mutations frequently found in non-Hodgkin B cell lymphoma (B-NHL), in which TET1 was hypermethylated and transcriptionally silenced.																					
25784989	TET1	Underexpression	Prostate Carcinoma	Furthermore, using ChIP methods to investigate the H3K4me3 and H3K27me3 patterns in promoters, these four markers are all demonstrated to be associated with Polycomb-repressed characterization and upregulated in response to TET1/PRC2 reduction in PCa. Thus, our findings reveal a distinct activating and repressive function of TET1-mediated transcriptional regulation in prostate cancer.																					
25735355	TET1	Underexpression (hypermethylation)	Breast Carcinoma	Here, we reported that TET1, a tumor suppressor gene, was downregulated and hypermethylated in highly metastatic breast cancer cell lines.																					
25616722	TET1	Underexpression	Hepatocellular Carcinoma	In this study, we showed that TET1 expression was obviously reduced in the majority of examined HCC tissues.																					
25098926	TET1	Underexpression	Gastric Carcinoma	The expressions of TET1, TET2, TET3, TDG and IDH2, but not IDH1, were notably decreased in GCs, compared with the adjacent non-tumor portion.																					
24507562	TET1	Underexpression	Gastric Carcinoma	We also found significant lowered TET1 protein levels in male patients (P=0.0014), stomach (P=0.044) and cardia (P=0.013) tumor localization, T3 depth of invasion (P=0.019), N1 (P=0.012) and N3 lymph node metastasis (P=0.013) and G3 histological grade (P=0.0012).																					
23671639	TET1	Underexpression	Hepatocellular Carcinoma	Furthermore, our data showed that expression of TET1, but not TET2 and TET3, was downregulated in HCC.																					
22320381	TET1	Underexpression	Colorectal Carcinoma	TET1 expression was decreased in half of CRCs, and a large part of them was followed by the loss of 5-hmC.																					
27405564	KMT2C	Mutation	Acute Myeloid Leukemia; Colorectal Carcinoma	DNA methylation status in the four cases, which all harbor a MLL3 germline mutation, differed from that of the normal control, and hypermethylation was more prevalent.																					
26880370	KMT2C	Mutation	Leukema	Interestingly, NGS revealed nonsense mutations accompanied by loss of heterozygosity (LOH) in TET2 and MLL3, which was further confirmed by cloning and direct sequencing of DNA from uncultured cells.																					
26431491	KMT2C	Mutation	Endometrial Carcinomas	Basal-like subgroup was enriched for aggressive tumors with higher pathological grade (p < 0.0001), TNM stage (p = 0.01), and somatic mutations in trithorax-group genes (MLL, MLL2 and MLL3); and it overexpressed polycomb genes EZH2 and CBX2.																					
25633166	KMT2C	Underexpression	Larynx Carcinoma	MLL3 was significantly downregulated in tumor samples compared to their normal counterparts, and all MLL genes showed decreased expression in advanced tumors compared to tumors in the initial stage.																					
25275298	KMT2C	Mutation	Head and Neck Squamous Cell Carcinoma	This analysis also revealed that most HNSCC cells harbor multiple mutations and CNVs in epigenetic modifiers (e.g., EP300, CREBP, MLL1, MLL2, MLL3, KDM6A, and KDM6B) that may contribute to HNSCC initiation and progression.																					
25273170	KMT2C	Underexpression	Oesophagal Squamous Cell Carcinoma	Here, we found that the expression of MLL3 was downregulated in ESCC tissues.																					
25222251	KMT2C	Underexpression	Gastric Carcinoma	Using immunohistochemical staining and Kaplan-Meier analysis for MLL3 in gastric cancer patients, we found that low expression of MLL3 had a significant relationship with a low survival rate compared to positive MLL3 expression in the patients analyzed (P<0.05).																					
24965397	KMT2C	Mutation	Gastric Carcinoma	In the present study, we identified a novel missense mutation in MLL3 gene (S3660L) by directly sequencing method in 48 gastric cancer patients. We concluded that this novel missense (S3660L) mutation in MLL3 gene is likely to increase the gastric cancer risk.																					
24744582	KMT2C	Mutation	Gastric Carcinoma	Mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) have been found in 47% of GCs.																					
24670651	KMT2C	genetic alteration	Oesophagal Squamous Cell Carcinoma	Moreover, we have found that several important histone regulator genes (MLL2 (also called KMT2D), ASH1L, MLL3 (KMT2C), SETD1B, CREBBP and EP300) are frequently altered in ESCC.																					
24379610	KMT2C	Mutation	Hepatocellular Carcinoma	High-throughput short-read sequencing of exomes and whole cancer genomes in multiple human hepatocellular carcinoma (HCC) cohorts confirmed previously identified frequently mutated somatic genes, such as TP53, CTNNB1 and AXIN1, and identified several novel genes with moderate mutation frequencies, including ARID1A, ARID2, MLL, MLL2, MLL3, MLL4, IRF2, ATM, CDKN2A, FGF19, PIK3CA, RPS6KA3, JAK1, KEAP1, NFE2L2, C16orf62, LEPR, RAC2, and IL6ST.																					
23991983	KMT2C	SNP	Gastric Carcinoma	We found 2 SNPs (rs6943984, rs4725443) of MLL3 gene were significantly associated with the risk of gastric cancer : the rs6943984 with the minor allele A and rs4725443 with the minor allele C revealed strong associations with increased gastric cancer risk [P <0.001, OR=1.97, 95% CI=1.48~2.64 and P <0.001, OR = 2.23, 95% CI = 1.54~3.24].																					
23259788	KMT2C	Loss of Expression (mutation)	Gastric Carcinoma; Colorectal Carcinoma	We found MLL, MLL2, MLL3 and MLL5 frameshift mutations in two (one GC and one CRC), three (one GC and two CRC), 17 (14 GC and three CRC) and six (four GC and two CRC) cancers, respectively. All of the cancers with MLL3 mutations showed loss of MLL3 expression, and their values were significantly lower than in those without MLL3 mutation (50.9%).																					
22484628	KMT2C	Mutation	Gastric Carcinoma	Frequent mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) also occurred in 47% of the gastric cancers.																					
22421440	KMT2C	Mutation	Pancreatic Carcinoma	Using two independent statistical methods to identify loci commonly mutated by SB in these tumors, we identified 681 loci that comprise 543 candidate cancer genes (CCGs); 75 of these CCGs, including Mll3 and Ptk2, have known mutations in human pancreatic cancer.																					
21853109	KMT2C	Mutation	Colorectal Carcinoma	We found two isoforms of MLL3 and DNA sequencing revealed frameshift and other mutations affecting both isoforms of MLL3 in colorectal cancer cells and 19 of 134 (14%) primary colorectal samples analyzed.																					
20636436	HDAC8	Overexpression	Acute Lymphoid Leukemia	ALL samples showed higher expression levels of HDAC2, HDAC3, HDAC8, HDAC6 and HDAC7 when compared to normal bone marrow samples.				ERRalpha	Deacetylation	HDAC8 and Sirt1 were also demonstrated to interact directly with ERRalpha in vivo and to deacetylate and increase the DNA binding affinity of ERRalpha in vitro.															
21116761	KMT2C	Mutation	Breast Carcinoma	In this study, we sequenced all 59 exons of MLL3 (14.7 Kb coding sequence) in 38 breast cancers from Chinese women, and found three somatic mutations in two of the cases, including one frameshift mutation (c.2687 ins A) that truncates the majority of the MLL3 protein, and two synonymous mutations.																					
27175582	PRMT1	Overexpression	Melanoma	In conclusion, the current results indicated that PRMT1 is overexpressed in human melanoma, and may regulate tumor growth and metastasis via targeting ALCAM.																					
26472729	PRMT1	Underexpression	Gastric Carcinoma	PRMT1 and FOXO1 in GC samples were predominantly expressed in the nucleus. Patients with lower PRMT1 expression (n = 131) had suppressed nuclear accumulation of FOXO1, higher recurrence after adjuvant chemotherapy, and poorer prognosis than those with higher PRMT1 expression (n = 64).																					
26045981	PRMT1	altered expression	Oesophagal Squamous Cell Carcinoma	Tissue microarray done in independent cohort of 75 patients revealed higher nuclear protein expression of KAT8 and PRMT1 in tumor similar to mRNA expression. Expression status of PRMT1 and KAT8 was found declined as we move from low grade to high grade tumor																					
24211191	PRMT1	Overexpression	Non-Small Cell Lung Cancer	We report that CARM1 and PRMT1 are significantly overexpressed in 60 patients with Non-Small Cell Lung Carcinomas (NSCLC).																					
22839530	PRMT1	Overexpression	Acute Lymphoblastic Leukemia	We identified significant up-regulation of SRSF1 and PRMT1 in the ND samples. Importantly, the expression of SRSF1 and PRMT1 returned to normal levels after CR, but rebounded in the RE samples.																					
19414388	PRMT1	Aberrant expression	Colon Carcinoma	In 18 inflamed colon tissues examined for PRMT1 expression and compared with the expression of 90 colon cancer tissue samples, statistical significance was found only for variants v1 and v2.																					
17848568	PRMT1	Aberrant expression	Breast Carcinoma	Finally, we find that the relative balance of PRMT1 isoforms is altered in breast cancer.																					
11097842	PRMT1	Aberrant expression	Breast Carcinoma	We have shown that the relative prevalence of alternatively spliced forms of PRMT1 is different between normal and cancerous breast tissues.																					
26771192	PSIP1	Aberrant Expression	Prostate Carcinoma	This finding was consistent with the observation that while LEDGF/p75 was robustly cleaved in apoptotic cells into a p65 fragment that lacks stress survival activity, it remained relatively intact in necrotic cells.																					
22647853	PSIP1	Aberrant Expression	Prostate Carcinoma	Recently, aberrant expression of LEDGF was found in prostate cancer (PC).																					
21796653	PSIP1	Aberrant Expression	Prostate Carcinoma	Our validation data revealed that changes in LEDGF/p75 transcript and protein expression in PCa cells closely paralleled those of CYGB, but not those of the PRDXs.																					
19934313	PSIP1	Overexpression	Ovarian Carcinoma	Using chromatin immunoprecipitation, we showed that LEDGF/p75 indeed binds the VEGF-C promoter, and binding is augmented by FSH. A corresponding hormonally regulated increase in the LEDGF/p75 mRNA and protein levels was observed.																					
17451600	PSIP1	Overexpression	Acute Myeloid Leukemia	Analysis of blasts from single patients disclosed that LEDGF/p75 was the most consistently upregulated mRNA in resistant AML.																					
15982735	PSIP1	mutation	Chronic Myeloid Leukemia	This is the first description of NUP98-LEDGF in CML and strengthens the association between disease progression in and NUP98 abnormalities.				NUP98	Fusion	This is the first description of NUP98-LEDGF in CML and strengthens the association between disease progression in and NUP98 abnormalities.															
15725483	PSIP1	mutation	Acute Myeloid Leukemia	We report a novel fusion of the NUP98 and LEDGF genes in a pediatric AML with intermediate characteristics between M2-M3 French-American-British (FAB) subtypes exhibiting the same chromosomal rearrangement.				NUP98	Fusion	We report a novel fusion of the NUP98 and LEDGF genes in a pediatric AML with intermediate characteristics between M2-M3 French-American-British (FAB) subtypes exhibiting the same chromosomal rearrangement.															
15389814	PSIP1	Aberrant Expression	Prostate Carcinoma	Apoptotic cleavage of LEDGF/p75 was detected by immunoblotting. LEDGF/p75 expression was detected in 93% of prostate tumors but not in normal prostate.																					
11737860	PSIP1	mutation	Acute Myeloid Leukemia	A NUP98-LEDGF fusion transcript was observed and confirmed by sequencing. The breakpoints in the NUP98 and LEDGF genes were different to those previously reported.				NUP98	Fusion	Our results show that fusion of the NUP98 and LEDGF genes is a new recurrent translocation in AML.															
20636436	HDAC3	Overexpression	Acute Lymphoblastic Leukemia	ALL samples showed higher expression levels of HDAC2, HDAC3, HDAC8, HDAC6 and HDAC7 when compared to normal bone marrow samples.																					
26648570	SIRT6	Overexpression	Glioma	Immunoblotting and immunofluorescent staining demonstrated that SIRT6 overexpression promoted the mitochondrial-tonuclear translocation of apoptosisinducing factor (AIF), a potent apoptosis inducer.																					
26180037	SIRT6	Aberrant Expression	Non-Small Cell Lung Cancer	Patients with high cytoplasmic expression and low nuclear expression of SIRT6 (n = 33) had more aggressive cancer, shorter overall survival, and shorter recurrence-free survival than did patients with different SIRT6 expression profiles (P < 0.05).																					
25807436	SIRT6	Underexpression	Ovarian Carcinoma	We found that the SIRT6 expression was significantly reduced in human ovarian cancer tissues compared to the normal tissues.																					
25713071	SIRT6	Underexpression	Lung Carcinoma	Activation of cAMP signaling reduced SIRT6 protein expression in lung cancer cells.	cAMP	negative regulation	Activation of cAMP signaling reduced SIRT6 protein expression in lung cancer cells.																		
25503141	SIRT6	Overexpression	Head and Neck Squamous Cell Carcinoma	In the cancer group, the expression level of SIRT1 was down-regulated (p<0.05); in contrast, SIRT6 and SIRT7 were significantly up-regulated (p<0.001).																					
25400728	SIRT6	Underexpression	Urothelial Carcinoma	Immunohistochemistry studies of SIRT6 on radical cystectomy samples showed a dramatic decline of SIRT6 expression when bladder cancer progressed from T2 to T4.																					
25320180	SIRT6	Overexpression	Human Skin Squamous Cell Carcinoma	Clinically, we found that SIRT6 was upregulated in human skin squamous cell carcinoma.																					
25197348	SIRT6	Underexpression	Non-Small Cell Lung Cancer	The present study showed that the mRNA and protein levels of SIRT6 were decreased in human non-small cell lung cancer (NSCLC) tissues and cell lines.							Twist1	Negative regulation	On the molecular level, we found that SIRT6 inhibited the expression of Twist1 both at the mRNA and protein levels in NSCLC cells.												
24607900	SIRT6	Underexpression	Glioma	We find that SIRT6, one of the NAD(+)-dependent class III deacetylase SIRTUINs, is down-regulated in human glioma tissues and that the level of SIRT6 is negatively correlated with PCBP2 level while H3K9ac enrichment on the promoter of PCBP2 is positively correlated with PCBP2 expression.																					
23982738	SIRT6	Overexpression	Prostate Carcinoma	From deposited gene profiling studies we found that SIRT6 was overexpressed in prostate tumors, compared with normal or paratumor prostate tissues.																					
23514751	SIRT6	Overexpression	Breast Carcinoma	Consistently, immunohistochemical analysis of 118 breast cancer patient samples revealed that high SIRT6 nuclear staining is significantly associated with poorer overall survival (P = 0.018; Kaplan-Meier analysis).																					
21143702	NCOR1	Underexpression	Glioma	In contrast, weak expression of NCOR1 and HDAC3 was detected in the cytoplasm and nuclei of tumor cells.																					
21207424	SIRT6	Aberrant Expression	Endometrial Carcinoma	We identified ACAA1, AP1M2, CGN, DDR1, EPS8L2, FASTKD1, GMIP, IKBKE, P2RX4, P4HB, PHKG2, PPFIBP2, PPP1R16A, RASSF7, RNF183, SIRT6, TJP3, EFEMP2, SOCS2 and DCN as differentially expressed in ECs.																					
21143702	HDAC3	Underexpression	Glioma	HDAC3 expression was inversely associated with tumor grade. Consequently, increased HDAC3 expression was associated with better patient survival in univariate regression.																					
26926079	HDAC8	Overexpression	Breast Carcinoma	HDAC8 mRNA expression was upregulated in paired breast cancer tissue from Taiwanese patients and in paired breast cancer tissues from the TCGA data set. Hypomethylation of promoter regions was significantly correlated with HDAC8 mRNA overexpression in 588 breast cancer patients from the TCGA data set and was associated with poor prognosis in early-stage breast cancer.																					
26412386	HDAC8	Overexpression	Gastric Carcinoma	We found that the expression of HDAC8 was significantly upregulated both in GC cell lines and tumor tissues compared to human normal gastric epithelial cell, GES-1 and matched non-tumor tissues.																					
25836739	HDAC8	Overexpression	Melanoma	HDAC8 was increased in BRAF-mutated melanoma (P=0.016), however, no association between expression of other HDACs and NRAS/BRAF status was identified.				p65	Correlation	There was also a correlation between HDAC1, HDAC8 expression, and phosphorylated NFκb p65 immunoreactivity (P<0.001).															
24077923	HDAC8	Overexpression	Hepatocellular Carcinoma	Our results showed that expression of HDAC8 was significantly up-regulated both in HCC cell lines and tumor tissues compared to human normal liver cell line LO2 and corresponding non-tumor tissues.																					
21143702	HDAC1	Overexpression	Glioma	Expression of HDAC1 and HDAC2 increased during tumor recurrence and malignant tumor progression, respectively, whereas expression of the remaining antigens did not seem to depend on tumor grade and was comparable to expression levels found in non-neoplastic brain tissues.																					
21206745	HDAC3	Overexpression	Hepatocellular Carcinoma	Class I HDACs were highly expressed in a subset of HCCs with positivity for HDAC1 in 51.2%, HDAC2 in 48.8%, and HDAC3 in 32.6% of cases.																					
19118036	HDAC8	Overexpression	Neuroblastoma	High HDAC8 expression was associated with poor prognostic markers and poor overall and event-free survival.																					
26497117	UHRF1	Overexpression	Pancreatic Carcinoma	UHRF1 expression was observed in 20% (5 of 25) of benign pancreatic ducts compared to 86% (114 of 132) of pancreatic tumours, and an inverse relationship between UHRF1 and Keap1 levels in PDAC tumours (n = 124) was apparent (p = 0.002).																					
26464697	UHRF1	Overexpression	Hepatocellular Carcinoma	The UHRF1 was over-expressed in HCC tissues compared with the adjacent normal tissues according to the outcome of HPLC (P<0.001).																					
26161699	UHRF1	Overexpression	Gastric Carcinoma	UHRF1 DNA levels were significantly higher in GC patients compared to healthy controls (p<0.001) and have associations with age and lymph node metastasis (LNM).																					
26147747	UHRF1	Overexpression	Gastric Carcinoma	The results demonstrated that UHRF1 overexpression was an independent and significant predictor of GC prognosis.																					
26102039	UHRF1	Overexpression	Renal Cell Carcinoma	In this study, we found UHRF1 is frequently overexpressed in human clear cell Renal Cell Carcinoma (ccRCC) tissues both at mRNA and protein levels.				p53	Interaction	We showed that UHRF1 directly interacts with p53 both in vivo and in vitro.															
26070868	UHRF1	Overexpression	Ovarian Carcinoma	Our results demonstrated that both UHRF1 mRNA and protein were highly expressed in ovarian cancer tissues and significantly higher than that in adjacent normal tissues.																					
25641194	UHRF1	altered expression	Hepatocellular Carcinoma	A negative correlation of MEG3 and UHRF1 expression was verified in primary HCC tissues.							MEG3	Negative regulation	Down-regulation of UHRF1 induced MEG3 expression in HCC cell lines, which could be reversed by the up-regulation of UHRF1.												
25430639	UHRF1	Overexpression	Hepatocellular Carcinoma	Notably, UHRF1 and Sp1 levels were elevated in subgroups of hepatocellular carcinoma patients and inversely correlated with TRα1 expression.				TRα1	Negative Correlation	Notably, UHRF1 and Sp1 levels were elevated in subgroups of hepatocellular carcinoma patients and inversely correlated with TRα1 expression.															
25416862	UHRF1	Overexpression	Pancreatic Carcinoma	In this study, it was found that the expression of UHRF1 was significantly up-regulated in pancreatic cancer samples compared to their adjacent normal tissues.																					
25272010	UHRF1	Overexpression	Bladder Carcinoma	We found that UHRF1 levels are upregulated in most clinical specimens of bladder cancer when compared with paired normal tissues, and UHRF1 expression levels are significantly increased in primary tumors that subsequently metastasized compared with non-metastatic tumors.																					
23943380	UHRF1	Overexpression	Oesophagal Squamous Cell Carcinoma	The results showed that UHRF1 was significantly overexpressed in ESCC specimens.																					
23107467	UHRF1	Overexpression	Breast Carcinoma	The UHRF1 DNA in plasma of 229 breast cancer patients showed higher expression than healthy controls, which showed high specificity up to 76.2% at a sensitivity of 79.2%, and was significantly associated with c-erbB2 positive status, cancer stage and lymph node metastasis.																					
23023523	UHRF1	Overexpression	Colorectal Carcinoma	High UHRF1 expression was observed in 152 of 231 (65.8%) colorectal cancer patients, and was detected in 35 of 40 adenoma specimens samples (87.5%).						UHRF1 expression was significantly associated with E2F-1 expression (p<0.0001).															
22330138	UHRF1	Overexpression	Prostate Carcinoma	Analysis of human prostate cancer samples by microarrays and immunohistochemistry showed increased expression of UHRF1 in about half of the cases.																					
21611839	UHRF1	Overexpression	Bladder Carcinoma	The UHRF1 expression rate was 49.2% in a total of 118 bladder cancer tissues, which was significantly higher than in normal tissues, and UHRF1 expression has a significantly positive correlation with tumor grade (P = 0.027) and recurrence (P = 0.013).																					
20613874	UHRF1	Underexpression	Glioma	Our results reveal that the disruption of Dnmt1/PCNA/UHRF1 interactions acts as an oncogenic event and that one of its signatures (i.e. the low level of mMTase activity) is a molecular biomarker associated with a poor prognosis in GBM patients.				PCNA; Dnmt1	Interaction	Our results reveal that the disruption of Dnmt1/PCNA/UHRF1 interactions acts as an oncogenic event and that one of its signatures (i.e. the low level of mMTase activity) is a molecular biomarker associated with a poor prognosis in GBM patients.															
20517312	UHRF1	Overexpression	Non-Small Cell Lung Cancer	In 322 Japanese non-small cell lung cancer (NSCLC) cases, UHRF1 expression was associated with the histological type (higher in non-ADCs; P<0.00001), gender (higher in male; P=0.00082), smoking (higher in smokers; P=0.00004), pT factor (higher in advanced stage; P=0.00010), and pN factor (higher in cancers with metastasis in regional lymph nodes; P=0.00018).																					
19491893	UHRF1	Overexpression	Bladder Carcinoma	Significant overexpression of UHRF1 was observed in bladder cancer.																					
26968201	NCOR1	Underexpression	Prostate Carcinoma	Prostate cancer metastases show significant decrease in NCOR1 transcriptional output.																					
26589942	NCOR1	Underexpression	Gastric Carcinoma	We found that the PDCD2 and NCoR1 protein levels were lower in gastric GIST tissues than in normal gastric tissues.																					
25189356	NCOR1	Mutation	Prostate Carcinoma	From this genome-wide approach, mutations were found in a series of genes with prostate cancer relevance, including AR, NCOR1, KDM3A, KDM4A, CHD1, SETD5, SETD7, INPP4B, RASGRP3, RASA1, TP53BP1, and CDH1, and a novel SND1:BRAF gene fusion.																					
23295231	NCOR1	Aberrant Expression	Retinoblastoma	The aberrant cytoplasmic expression of NCoR1 in retinoblastoma appears to be associated with the proliferative and/or dedifferentiated properties of retinoblastoma.																					
21966475	NCOR1	Aberrant expression	Non-Small Cell Lung Cancer	Indeed, our initial screening of N-CoR status in various leukemia and solid tumor cells revealed an APL like MCDL of N-CoR in primary and secondary tumor cells derived from non-small cell lung cancer (NSCLC).																					
21206745	HDAC2	Overexpression	Hepatocellular Carcinoma	Kaplan-Meier curves showed that a high expression level of HDAC2 or HDAC3 implicated significantly reduced recurrence-free survival.																					
21447119	CHD4	Loss of expression	Colorectal Carcinoma; Gastric Carcinoma	Loss of CHD4 expression was observed in 56.4% of the GCs and 55.7% of the CRCs.																					
17823926	NCOR1	Overexpression	Multiple Myeloma	The analysis of transcriptional profiles in a proprietary database of myeloma cell lines identified 12 significantly overexpressed genes in the KMS-26 amplified region, including TNFRSF13B/TACI, COPS3, and NCOR1.																					
17630505	NCOR1	Aberrant Expression	Colorectal Carcinoma	Moreover, we have analyzed the subcellular localization of N-CoR in 43 colorectal cancer samples and we have found that aberrant cytoplasmic distribution of N-CoR is a general trait of these tumors.																					
16195251	NCOR1		Prostate Carcinoma	This interaction was direct, and was mediated in vitro and in vivo through the C-terminal region of SAFB1 (amino acids 600-915 and the N-terminal region of N-CoR (amino acids 1-373)).				SAFB	Interaction	This interaction was direct, and was mediated in vitro and in vivo through the C-terminal region of SAFB1 (amino acids 600-915 and the N-terminal region of N-CoR (amino acids 1-373)).															
16019133	NCOR1	altered expression	Breast Carcinoma	It was found that NCOR1 mRNA was expressed at significantly higher levels in patients over 50 years of age, without axillary lymph node involvement, with tumor size less than 2 cm, with low or intermediate histological grade, with ERalpha/PgR-positive and with HER2 negative tumors.																					
12684393	NCOR1	Underexpression	Breast Carcinoma	Low NCOR1 expression (versus intermediate and high) was associated with significantly shorter relapse-free survival (log-rank test; P = 0.0076).																					
26078337	NCOA4	mutation	Colorectal Carcinoma	Through comprehensive genomic profiling we prospectively identified 6 RET fusion kinases, including two novel fusions of CCDC6-RET and NCOA4-RET, in metastatic colorectal cancer (CRC) patients.				RET	Fusion	Through comprehensive genomic profiling we prospectively identified 6 RET fusion kinases, including two novel fusions of CCDC6-RET and NCOA4-RET, in metastatic colorectal cancer (CRC) patients.															
23327964	NCOA4	mutation	Papillary Thyroid Carcinoma	BRAF T1799A mutation and RET/PTC3 rearrangement in patients suggests a poorer prognosis than the negative one.				RET	Fusion	BRAF T1799A mutation and RET/PTC3 rearrangement in patients suggests a poorer prognosis than the negative one.															
22457234	NCOA4	mutation	Papillary Thyroid Carcinoma	In total, 46/70 (66%) cases carried a BRAF mutation and/or a RET/PTC rearrangement. A BRAF mutation was detected in 26 tumors, RET/PTC1 in 20 cases, and RET/PTC3 in four cases.				RET	Fusion	In total, 46/70 (66%) cases carried a BRAF mutation and/or a RET/PTC rearrangement. A BRAF mutation was detected in 26 tumors, RET/PTC1 in 20 cases, and RET/PTC3 in four cases.															
21674964	NCOA4	mutation	Papillary Thyroid Carcinoma	It was established that induction of both, RET/PTC1 and RET/PTC3 rearrangements was present only in carcinoma samples.				RET	Fusion	It was established that induction of both, RET/PTC1 and RET/PTC3 rearrangements was present only in carcinoma samples.															
20839015	NCOA4	mutation	Papillary Thyroid Carcinoma	Several cytoskeletal protein species showed quantitative changes in tumors and lymph node metastases harboring RET/PTC1 or RET/PTC3.				RET	Fusion	Several cytoskeletal protein species showed quantitative changes in tumors and lymph node metastases harboring RET/PTC1 or RET/PTC3.															
19765726	NCOA4	mutation	Papillary Thyroid Carcinoma	The primary tumor genotype in 217 patients with papillary thyroid cancer was determined for six common somatic genetic alterations (RET/PTC1, RET/PTC3, and NTRK1 rearrangements, and BRAF V600E, KRAS, and NRAS hotspot mutations) by PCR and direct sequencing, and nested PCR.				RET	Fusion	The primary tumor genotype in 217 patients with papillary thyroid cancer was determined for six common somatic genetic alterations (RET/PTC1, RET/PTC3, and NTRK1 rearrangements, and BRAF V600E, KRAS, and NRAS hotspot mutations) by PCR and direct sequencing, and nested PCR.															
16630482	NCOA4	mutation	Papillary Thyroid Carcinoma	(3) Fourteen PTCs (21.2%) expressed RET/PTC, including five cases expressing RET/PTC1 and nine cases expressing RET/PTC3.				RET	Fusion	(3) Fourteen PTCs (21.2%) expressed RET/PTC, including five cases expressing RET/PTC1 and nine cases expressing RET/PTC3.															
12457448	NCOA4	mutation	Papillary Thyroid Carcinoma	The prevalence of RET/PTC activation in PTC is high and RET/PTC3 is the only type of activation identified in Hong Kong Chinese and is an important genetic event underlying the development of PTC in the population				RET	Fusion	The prevalence of RET/PTC activation in PTC is high and RET/PTC3 is the only type of activation identified in Hong Kong Chinese and is an important genetic event underlying the development of PTC in the population															
11561770	NCOA4	underexpression; Loss of Expression	HER2-Positive Breast Carcinoma	Of the 41 cases of IDC, focal or complete loss of ARA70 protein expression was observed in 46% of the cases, with 60% of HER2-positive versus 33% of HER2-negative cases showing loss																					
11318605	NCOA4	mutation	Papillary Thyroid Carcinoma	More than 90% of PTC with RET rearrangement exhibit a PTC1 or PTC3 type of rearrangement with an inversion of the H4 or ELE1 gene, respectively, on chromosome 10.				RET	Fusion	More than 90% of PTC with RET rearrangement exhibit a PTC1 or PTC3 type of rearrangement with an inversion of the H4 or ELE1 gene, respectively, on chromosome 10.															
11161850	NCOA4	Overexpression	Ovarian Carcinoma	In contrast, a high level of ARA70 expression was observed in 17 of the 20 ovarian carcinomas of various histological types.																					
10566678	NCOA4	mutation	Papillary Thyroid Carcinoma	A strong correlation was observed between the solid-follicular subtype of papillary carcinoma and the RET/PTC3 isoform: 19 of the 24 RET/PTC-positive solid-follicular carcinomas harbored a RET/PTC3 rearrangement, whereas only 5 had a RET/PTC1 rearrangement.				RET	Fusion	A strong correlation was observed between the solid-follicular subtype of papillary carcinoma and the RET/PTC3 isoform: 19 of the 24 RET/PTC-positive solid-follicular carcinomas harbored a RET/PTC3 rearrangement, whereas only 5 had a RET/PTC1 rearrangement.															
25982285	MUM1	Loss of Expression	Lung Carcinoma	Among those, the loss of tumor suppressor genes STK11, MUM1, KISS1R (19p13.3), and BRG1 (19p13.13) is associated with lung oncogenesis or remote metastasis.																					
25589617	MUM1	Overexpression	B-cell Lymphoma	Expression of cMYC (% positive in HIV-related and -unrelated DLBCL: 64% vs. 32%), BCL6 (45% vs. 10%), PKC-β2 (61% vs. 4%), MUM1 (59% vs. 14%), and CD44 (87% vs. 56%) was significantly elevated in HIV-related DLBCLs, whereas expression of p27 (39% vs. 75%) was significantly reduced.																					
25149549	MUM1	Overexpression	Follicular Lymphoma	In the PRIMA cohort, both high levels of MUM1 positivity (cutoff value of 0.80%) and high levels of Ki-67 positivity (cutoff value of 10.25%) were significantly associated with a shorter progression-free survival (PFS) (P = .004 and P = .007 for MUM1 and Ki-67, respectively).																					
23791544	MUM1	Overexpression	Plasmablastic Lymphoma	Immunohistochemical studies showed that the tumor cells were strongly positive for MUM1, VS38c, VMT, and κ light chain, focally positive for LCA and CD79a, and negative for CD3, CD20, CD56, λ light chain, CK-pan, EMA, and HMB45.																					
22169641	MUM1	Overexpression	Follicular Lymphoma	MUM-1/IRF4 predominantly expressed in high-grade follicular lymphoma and showed a significantly positive correlation with lymphoma grade (r = 0.628, P = 0.000) and Ki-67 index (r = 0.473, P = 0.000).																					
19816150	MUM1	Overexpression	B-cell lymphoma	MUM1 expression was observed in 44% of the cases and these positive cases showed a significant negative impact on clinical outcome.																					
18194597	MUM1	Overexpression	B-Cell Lymphoma	Expression of MUM1 carried an adverse effect on 5-year overall survival (P=0.031) and 5-year progression-free survival (P=0.028).																					
16426914	MUM1	Overexpression	Chronic Lymphocytic Leukemia	The only significant association identified was between uniform MUM1/IRF4 positivity and typical PCs (P = .004).																					
16400625	MUM1	Overexpression	B-cell lymphoma	Expression of CD10 and cFLIP was associated with better overall survival (both p = 0.03), whereas expression of MUM1, Bcl-2 and XIAP was associated with poor clinical outcome (p = 0.01, p = 0.0007 and p = 0.03, respectively).																					
16249468	MUM1	Aberrant Expression	Peripheral B-cell Lymphoma	Aberrant coexpression of MUM1/IRF4, PAX5, MUM1/IRF4, and BCL-6 was observed in most PIOLs/PCNSLs.																					
12920225	MUM1	Aberrant Expression	Melanoma	The results indicate that MUM1 is positive in 33/36 (92%) cases of melanoma (21/22 [95%] conventional primary melanomas and 12/14 [86%] metastatic melanomas).																					
12393648	MUM1	Underexpression	B-cell Chronic Lymphocytic Leukemia	Patients without MUM1/IRF4 expression had significantly worse overall survival than did those with MUM1/IRF4 expression (52% cumulative survival, 63 months vs not reached, Kaplan-Meier survival analysis; P <.03, log-rank test).																					
12079517	MUM1	Overexpression	B-cell Chronic Lymphocytic Leukemia	Interestingly, the patients who were positive for MUM1 showed shorter overall survival times than those who were negative for MUM1 (50% survival: 22 months vs. 82 months) (P = 0.0008, log-rank test).																					
10720141	MUM1	Aberrant Expression	B-cell Non-Hodgkin Lymphoma	In B cell non-Hodgkin's lymphoma (NHL), MUM1 expression was observed in 73.2% (30/41) of diffuse large B cell lymphoma (DLBCL), 20% (1/5) of marginal zone lymphoma (MZL) and 43% (3/7) of small lymphocytic lymphoma (SLL) cases, whereas it was not seen in any cases of mantle cell lymphoma (MCL) or follicle center lymphoma (FCL).																					
27453110	MECP2	Overexpression	Cervical Carcinoma	The expression levels of MeCP2 protein(H=33.72, P<0.001; trend χ(2)=14.74, P<0.001)and mRNA(H=19.50, P<0.001; trend χ(2)=10.74, P<0.001)increased gradually along with the severity of cervical lesions.																					
24199952	MECP2	Overexpression	Hepatocellular Carcinoma	The results showed that MeCP2 expression levels was higher in human HCC tissue than normal hepatocellular tissue																					
23915259	MECP2	Underexpression	Lung Carcinoma	Down-regulation of DNMTs and MeCP2 and up-regulation of acetylated histones could be detected in lung cancer cells.																					
23751476	MECP2	Underexpression	Cervical Carcinoma	Results showed that the expression levels of DNMT1 protein (C33A: r = -0.914, P < 0.001; Caski: r = -0.859, P = 0.003) and MeCP2 protein (C33A: r = -0.830, P = 0.005; Caski: r = -0.981, P < 0.001) decreased gradually with the increase of folate concentrations, but the expression of DNMT1 and MeCP2 mRNA was not observed in Caski or C33A cell.																					
21447119	CHD8	Loss of expression	Colorectal Carcinoma; Gastric Carcinoma	Loss of CHD4 expression was observed in 56.4% of the GCs and 55.7% of the CRCs, and loss of CHD8 was observed in 35.7% of the GCs and 28.6% of the CRCs. The cancers with CHD4 and CHD8 mutations showed loss of CHD4 and CHD8 expression, respectively.																					
14612906	MECP2	Overexpression	Breast Carcinoma	We observed higher expression levels of MeCP2 mRNA in neoplastic tissues than in non-neoplastic tissues (P=0.001), whereas no significant differences for MBD2 were detected.				OR	Association	Finally, using a linear regression model, we identified a statistically significant association between OR expression and MeCP2 mRNA expression in neoplastic and non-neoplastic breast tissue specimens (P=0.003).															
12824891	MECP2	Overexpression	Colorectal Carcinoma	In contrast, both signet-ring cell carcinoma and mucinous adenocarcinoma showed fully methylated patterns and strong MeCP2 expression.																					
12101420	MECP2	Underexpression	Small Cell Lung Cancer	However, when normalized using proliferating cell nuclear antigen (PCNA) as an internal control, these differences disappeared or diminished; there was even a significant reduction in the expression ratios of DNMT1, MBD2 and MeCP2 in SCLC and DNMT1, MBD2 and MBD4 in NSCLC.																					
11710831	MECP2	Underexpression	Non-Small Cell Lung Cancer	Western blot analyses of MeCP2 in matched tumour-normal samples of patients with non-small-cell lung cancer (NSCLC) indicated reduced protein in a significant percentage of patients.																					
27546619	PRMT5	Overexpression	Prostate Carcinoma	Furthermore, PRMT5 expression in prostate cancer tissues is significantly higher than that in benign prostatic hyperplasia tissues, and PRMT5 expression correlates positively with AR expression at both the protein and mRNA levels.																					
27315569	PRMT5	Overexpression	Gastric Carcinoma	PRMT5 mRNA levels were significantly higher in GC tissues than the corresponding adjacent normal tissues and were independent of tumour depth, differentiation and lymph node metastasis.																					
26541651	PRMT5	Overexpression	Hepatocellular Carcinoma	PRMT5 expression was markedly upregulated in HCC tissues, and correlated inversely with overall patient survival.																					
26248553	PRMT5	altered expression	Colorectal Carcinoma	Early CRC (55 of 68, 80.9%) showed more frequent nuclear expression of PRMT5 than adenoma (15 of 40, 37.5%) (P < 0.001).																					
25704480	PRMT5	altered expression	Breast Carcinoma	We examined TRAF4 and PRMT5 expression by immunohistochemistry and found that their expression is positively correlated in breast cancer.																					
24775604	PRMT5	Aberrant Expression	Lung Adenocarcinoma	Immunohistochemical analysis of lung adenocarcinoma cases (n = 130) revealed that the expression of PRMT5 was high in the cytoplasm of 47 cases (36%) and the nuclei of 34 cases (26%).																					
24098663	PRMT5	Overexpression	Melanoma	Immunohistochemical analysis indicated significant upregulation of PRMT5 in human melanocytic nevi, malignant melanomas and metastatic melanomas as compared to normal epidermis.																					
23292799	PRMT5	Overexpression	Endometrial Carcinoma	PRMT5 overexpression was observed in 83.1% (98/118) of EOCs, and it was significantly associated with serous type, poor differentiation, advanced tumor stage, lymph node invasion, presence of residual tumor, and high expression of Ki-67 (p<0.05, respectively).																					
27586085	SIRT2	Overexpression	Acute Myeloid Leukemia	Importantly, SIRT2 is overexpressed in clinical AML samples, while K403 acetylation is downregulated and G6PD catalytic activity is increased comparing to that of normal control.																					
27291931	SIRT2	Overexpression	Acute Myeloid Leukemia	High SIRT2 expression was associated with significantly shorter overall survival (OS; P=0.0005) and event-free survival (EFS; P=0.0002) than low SIRT2 expressio in a cohort of 167 patients with AML.																					
27171429	SIRT2	Overexpression	Melanoma	SIRT2 expression was higher in melanomas than in normal melanocytes of both tumor and donor eyes (p < 0.0001).																					
25915617	SIRT2	Overexpression	Non-Small Cell Lung Cancer	High SIRT1 and SIRT2 protein levels were found in NSCLC cell lines compared with non-tumor lung epithelial cells.																					
25794641	SIRT2	Overexpression	Cervical Carcinoma	A progressive increase in the expression of both SIRT2 and SIRT7 was noted during cancer progression in the following order: normal<preneoplasia<cancer.																					
25719312	SIRT2	Underexpression	Non-Small Cell Lung Cancer	In the present study, we identified that the SIRT2 as an anti-oncogenic protein in NSCLC was down-regulated.							JMJD2A	Negative regulation	JMJD2A as a target of SIRT2 was negatively correlated with SIRT2 level in NSCLC.												
24183459	SIRT2	Aberrant Expression	Breast Carcinoma	Our data suggest that SIRT2 is the sirtuin predominantly involved in breast tumourigenesis and prognosis.																					
23915912	SIRT2	Underexpression	Non-Small Cell Lung Cancer	In this study, we analyzed the expression pattern of SIRT2 in NSCLC tissues from clinical patients and in cell lines, and found that SIRT2 was significantly down-regulated at both the mRNA and protein levels in tumor than non-tumor tissues or cells, which were corroborated by the NSCLC tissue microarray results.																					
21822268	KMT2C	genetic aberration	Bladder Carcinoma	Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC.																					
23348706	SIRT2	Overexpression	Hepatocellular Carcinoma	SIRT2 is up-regulated in HCC cell lines and in a subset of human HCC tissues (23/45). Up-regulations of SIRT2 in primary HCC tumors were significantly correlated with the presence of microscopic vascular invasion (P = 0.001), a more advanced tumor stage (P = 0.004), and shorter overall survival (P = 0.0499).																					
22166219	SIRT2	Underexpression	Glioma	Our studies, by conducting such assays as flow cytometry-based Annexin V assay and caspase-3 immunostaining, have indicated that decreased SIRT2 activity leads to apoptosis of C6 glioma cells by caspase-3-dependent pathway.																					
12963026	SIRT2	Underexpression	Glioma	We then focused on the cytoskeleton-related protein, SIRT2 (sirtuin homologue 2) tubulin deacetylase, which was down-regulated in gliomas.																					
26472090	HNF1A	Underexpression	Gastric Carcinoma	The results from qRT-PCR showed that the expression of HNF1A-AS1 was not only downregulated in three GC cell lines (AGS, BGC-823, and MKN-45) relative to that in a normal gastric mucosal epithelial cell line (GES-1), but also decreased in GC tissues relative to that in paired adjacent non-neoplastic tissues (low expression, 94 of 161; low expression rate, 58.38%).																					
25863539	HNF1A	Overexpression	Lung Adenocarcinoma	Our results showed that HNF1A-AS1 was significantly up-regulated in lung adenocarcinoma tissues compared with corresponding non-tumor tissues, and its expression level was significantly correlated with TNM stage, tumor size, and lymph node metastasis.				AS1	Fusion	Our results showed that HNF1A-AS1 was significantly up-regulated in lung adenocarcinoma tissues compared with corresponding non-tumor tissues, and its expression level was significantly correlated with TNM stage, tumor size, and lymph node metastasis.															
25793983	HNF1A	Underexpression	Pancreatic Carcinoma	Immunohistochemistry revealed that the level of HNF1A expression was significantly lower in tumor tissues than in non-tumor tissues.																					
25608466	HNF1A	Overexpression	Oesophagal Squamous Cell Carcinoma	Furthermore, plasma levels of POU3F3, HNF1A-AS1 and SPRY4-IT1 were significantly higher in ESCC patients compared with normal controls.																					
23572277	HNF1A	Underexpression	Renal Cell Carcinoma	The TCF1 expression level was significantly weaker in normal tissue compared to tumor samples while LEF1 protein levels were significantly weaker in tumor tissue.																					
22453151	HNF1A	Overexpression	B-cell Chronic Lymphocytic Leukemia	In B-CLL patients, gene networks around MYC, HNF1A and HNF4A, YWHAG, NF-κB1 and SP1 are identified as up-regulated; CEBPA, YWHAG, SATB1 and RB1 -- as down-regulated.																					
12730871	HNF1A	Mutation	Colorectal Carcinoma	To further characterize the prevalence of TCF1 mutations in the subgroup of MSI-H tumors, 52 additional MSI-H samples were screened for exon 4 alterations; 23% of MSI-H tumors (95% confidence interval, 14%-36%) were found to harbor frameshift at the poly-cytosin tract.																					
27223260	BRD4	Overexpression	Prostate Carcinoma	Gene expression profile analysis shows some ERG-BRD4 co-target genes are upregulated in CRPC compared to hormone-nave counterparts.																					
27081696	BRD4	Overexpression	Hepatocellular Carcinoma	BRD4 was overexpressed in three different large cohort of hepatocellular carcinoma (HCC) patients as well as in liver cancer cell lines.																					
26939702	BRD4	Overexpression	Bladder Carcinoma	We found that BRD4 was significantly overexpressed in bladder cancer cells and tissues.																					
26840017	BRD4	Overexpression	Non-Small Cell Lung Cancer	Here, we found that BRD4 expression was significantly upregulated in NSCLC tissues and NSCLC cell lines with higher invasion and metastasis potentials.																					
26807235	BRD4	Overexpression (Copy number gain)	Ovarian Carcinoma	Our analysis using clinical and genomic data from the TCGA ovarian carcinoma samples revealed that somatic amplification of BRD4 (observed in 12% of the cases) was correlated with increased BRD4 mRNA levels and is significantly associated with worse overall and progression-free survival compared to wild-type cases.																					
25892415	BRD4	Overexpression; copy number gain	Ovarian Carcinoma	CCNE1 (19q12) and BRD4 (19p13.1) amplification/overexpression was found in 19/33 (57.5%) of non-BRCAness cases.																					
25120803	BRD4	Overexpression	Bladder Carcinoma	Up-regulated expression of BRD4 mRNA and protein was observed in the majority of UCBs by qRT-PCR and Western blot when compared with their paired normal bladder tissues.																					
24655834	BRD4	Mutation	NUT Midline Carcinoma	Cytogenetic and fluorescence in situ hybridization analyses revealed a t(15;19) and BRD4-NUT gene rearrangement.				NUT	Fusion	Cytogenetic and fluorescence in situ hybridization analyses revealed a t(15;19) and BRD4-NUT gene rearrangement.															
23950209	BRD4	Overexpression	Melanoma	Here, we report that BRD4, a BET family member, is significantly upregulated in primary and metastatic melanoma tissues compared with melanocytes and nevi.																					
22120039	BRD4	Underexpression (hypermethylation)	Colon Carcinoma	Here, we show that BRD4 is frequently downregulated by aberrant promoter hypermethylation in human colon cancer cell lines and primary tumors.																					
20871596	BRD4	Mutation	Human Squamous Carcinoma	Recurrent translocation of BRD4 is observed in a genetically-defined, incurable subtype of human squamous carcinoma.																					
27522258	HDAC3	Overexpression	Leukemia	Here, we found that HDAC3 is up-regulated in clinical samples of leukemia compared with adjacent normal tissues.																					
21822268	NCOR1	genetic aberration	Transitional Cell Carcinoma	Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC.																					
25070540	HDAC3	Overexpression	Pancreatic Carcinoma	Consistently, higher expression level of HDAC3 was found in all of the eight pancreatic cancer cell lines relative to human pancreatic ductal epithelial cells (HPDE).																					
22270866	HDAC3	Overexpression	Colorectal Carcinoma	The immunohistochemical staining of HDACs, including HDAC1, HDAC2, HDAC3, and HDAC4, was significantly increased in colorectal adenocarcinoma specimens compared to healthy control tissues.																					
22270866	HDAC2	Overexpression	Colorectal Carcinoma	The immunohistochemical staining of HDACs, including HDAC1, HDAC2, HDAC3, and HDAC4, was significantly increased in colorectal adenocarcinoma specimens compared to healthy control tissues.																					
23685192	HDAC3	Overexpression	Glioma	Data showed that HDAC3 was significantly elevated in children's gliomas, following the glioma grade, with almost no expression in normal brain tissues.																					
22270866	HDAC1	Overexpression	Colorectal Adenocarcinoma	The immunohistochemical staining of HDACs, including HDAC1, HDAC2, HDAC3, and HDAC4, was significantly increased in colorectal adenocarcinoma specimens compared to healthy control tissues.																					
22455563	MECP2	Overexpression	Breast Carcinoma	In contrast, expression of MeCP2 (P < 0.001), DNMT1 (P = 0.001), HDAC1 (P < 0.001) and H3Ac (P = 0.004) expressions was increased.				H3Ac; H4Ac	Positive Correlation	We identified a positive correlation between MeCP2 protein expression and H3Ac and H4Ac protein expression.															
22455563	HDAC1	Overexpression	Breast Carcinoma	Increased expression of HDAC1 was correlated with histological grade (P < 0.001), age (P = 0.004), clinical stage (P = 0.007) and lymph node metastasis (P = 0.001).																					
22944197	HDAC8	Overexpression	Urothelial Carcinoma	In cancer tissues, HDAC8 was likewise significantly up-regulated (P = 0.002), whereas HDAC2 up-regulation was detected only in a subset of tumors (9/24, P = 0.085).																					
22944197	HDAC2	Overexpression	Urothelial Carcinoma	Prominent changes in UCCs were HDAC2 and/or HDAC8 up-regulation in 11 of 18 cell lines and decreased expression of HDAC4, HDAC5, and/or HDAC7 mRNA in 15 of 18 cell lines.																					
20563766	HDAC3	Overexpression	Lung Adenocarcinoma	The 5-year disease-free survival (5-DFS) rate among patients expressing high levels of HDAC3 was significantly poorer than among those expressing lower levels (P = 0.005; log-rank test).																					
23110995	HDAC2	Overexpression	Non-Small Cell Lung Cancer	Expression of HDAC1 and that of HDAC2 were correlated, and significantly higher in NSCLC tissues than in normal lung tissues (P<0.05).																					
27751729	BAP1	Mutation	Renal Cell Carcinoma	Prevalent mutations (�?10%) were VHL (75%), PBRM1 (46%), SETD2 (30%), BAP1 (19%), KDM5C (15%), and PTEN (12%).																					
27718540	BAP1	Mutation	Uveal Melanoma	Germline BAP1 mutations were found in 6/32 (19%) families.																					
27713405	BAP1	Mutation	Renal Cell Carcinoma	We identify recurrent somatic mutations in 29 genes, including NF2 (18%), SETD2 (18%), BAP1 (13%), KMT2C (10%) and MTOR (8%).																					
27660484	BAP1	Mutation	Uveal Melanoma	The most frequent ones are BAP1, EIF1AX, GNA11, GNAQ, and SF3B1. In many cases, mutations in these genes appear in a mutually exclusive manner, have different risk of metastasis, and are consequently of prognostic importance.																					
27563445	BAP1	Mutation	Cholangiocarcinoma	Twenty-two cases of BAP1-mutation associated CCA were diagnosed from January 1, 2009, to February 1, 2015, at our center. BAP1 mutation in CCA may be associated with aggressive disease and poor response to standard therapies.																					
27553041	BAP1	Underexpression	Lung Adenocarcinoma	BAP1 expression showed a negative correlation with tumorigenesis of LAC (p <0.001) and lymph node metastasis (p = 0.010). High expression of BAP1 predicted longer disease free survival (p = 0.040) and overall survival (p = 0.021) of LAC patients.																					
27187383	BAP1	Mutation	Malignant Peritoneal Mesothelioma	A search of the Catalogue of Somatic Mutations in Cancer (COSMIC) database also revealed that 53.2% of mutations in BAP1 were frameshift indels with neo-peptide formation.																					
27123562	BAP1	Mutation	Uveal Melanoma	BAP1 mutations were identified in 29 of 64 (45%), GNAQ mutations in 36 of 81 (44%), GNA11 mutations in 36 of 81 (44%), SF3B1 mutations in 19 of 81 (24%), and EIF1AX mutations in 14 of 81 (17%).																					
27116551	BAP1	Underexpression	Uveal Melanoma	BAP1 deficiency was the only significant independent prognostic predictor for patients with polyploid tumors, with a 16-fold increased hazard ratio (HR 15.90, P = 0.009).																					
27085487	BAP1	Aberrant expression	Renal Cell Carcinoma	Nuclear BAP1 expression showed a high frequency of loss in tumoral cells; nuclear BAP1-negative tumors had higher tumor size, higher Fuhrman grade, and higher stage, a greater amount of vascular and capsular invasion and a higher incidence of metastases.																					
26845517	BAP1	Loss of Expression	Diffuse Malignant Peritoneal Mesothelioma	There was also evidence of BRCA1-associated protein 1 (BAP1) dysfunction compatible with diffuse malignant peritoneal mesothelioma (DMPM).																					
26765459	BAP1	Loss of Expression	Cholangiocarcinoma	BAP1 loss predicted a strong trend toward improved median survival of 40.80 months (95% CI, 28.14-53.46) versus 24.87 months (95% CI, 18.73-31.01), P=0.059).																					
26744134	BAP1	Mutation	Uveal Melanoma	Metastasized uveal melanomas exhibited mutations in GNAQ, GNA11 and BAP1.																					
26719535	BAP1	Mutation	Malignant Mesothelioma	No BAP1 alterations were found in control cohorts, but were identified in nine of 150 mesothelioma cases (6%) with a family history of cancer. Alterations among these cases were characterized by both missense and frameshift mutations, and enzymatic activity of BAP1 missense mutants was decreased compared with wild-type BAP1.																					
26709801	BAP1	Mutation	Intrahepatic Cholangiocarcinomas	Comprehensive mutational profiling studies identified IDH1/2 and BAP1 as characteristic of intrahepatic cholangiocarcinomas, while extrahepatic cholangiocarcinomas and gallbladder carcinomas were characterized by frequent KRAS and TP53 alterations.																					
26611647	BAP1	Underexpression	Gastric Adenocarcinoma	Decreased BAP1 expression was associated with higher histologic grade (P=0.044), tumor infiltration (P<0.001), metastasis status (P=0.023), and TNM stage (P<0.001).																					
26484545	BAP1	Mutation	Renal Cell Carcinoma	Mutation of BAP1 had previously been significantly associated with poorer overall survival; however, when stratified by gender, mutation of BAP1 only significantly affected overall survival in female patients.																					
26448191	BAP1	Loss of Expression	Renal Cell Carcinoma; Peritoneal Mesothelioma	BAP1 loss alone was seen in 10/15 (67%) biopsies and 10/15 (67%) cytology specimens; The 2 peritoneal mesothelioma cases demonstrated loss of BAP1 but not p16.																					
26376834	BAP1	Loss of Expression	Malignant Pleural Mesothelioma	BAP1 was lost in 77% of epithelioid cases (n=58) but was retained in all sarcomatoid cases (n=10); 49% of biphasic cases showed loss (n=43), and BAP1-negative cases demonstrated loss of staining in both the epithelioid and sarcomatoid components.																					
26288396	BAP1	Loss of Expression	Malignant Mesothelioma	Homozygous deletion of p16 by FISH or loss of BAP1 has only been reported in malignant mesotheliomas and not in benign mesothelial proliferations.																					
26246155	BAP1	Mutation	Malignant Mesothelioma	We found five tumors with partial deletion of BAP1 gene; each tumors displayed partial deletion of exons 1-4 (MM39), exons 1-5 (MM48), exons 11-17 (MM57), exons 1-15 (MM19) and exons 1-16 (MM21). Therefore, MLPA analysis revealed large gene rearrangements of BAP1 gene in 65% of MM (11/17).																					
26226841	BAP1	Loss of Expression	Malignant Mesothelioma	We conclude that loss of BAP1 expression, while not definitive, can be used to support the diagnosis of mesothelioma in effusion cytology.																					
26191197	BAP1	altered expression	Glioma	Univariate analysis demonstrated that high cytoplasmic expression of BAP1, tumor location, tumor relapse, advanced clinical stage were significant linkage with worse OS (P<0.05).																					
26166446	BAP1	Mutation	Renal cell carcinoma	BAP1- or SETD2-mutated ccRCCs have been associated with poor overall survival, while PBRM1 mutations seem to identify a favorable group of ccRCC tumors.																					
26118501	BAP1	Underexpression	Chronic Myeloid Leukemia	Moreover, BAP1 protein levels are low or undetectable in CD34(+) cells from CML patients at diagnosis as compared with CD34(+) cells from normal donors.							BRCA1	regulation	These results demonstrate BAP1 as a major link with the BCR-ABL-induced downregulation of BRCA1 in CML.												
26081045	BAP1	Underexpression	Oesophagal Squamous Cell Carcinoma	Furthermore, we found that the level of BAP1 expression in the nucleus was reduced in 44% of ESCC examined by immunohistochemistry (IHC).																					
26022455	BAP1	Loss of Expression	Malignant mesothelioma	Our results show that BAP1 protein is frequently lost in mesothelioma, especially of epithelioid/biphasic subtype and is commonly associated with homozygous BAP1 deletion.																					
25972334	BAP1	Loss of Expression	Basal Cell Carcinoma	Loss of BAP1 expression could be associated with the development of BCC in patients with germline BAP1 mutations.																					
25889843	BAP1	copy number loss; mutation	Malignant Peritoneal Mesothelioma	Finally, with targeted sequencing of BAP1 in 3 additional cases, we conclude that BAP1 is frequently altered through copy number losses (N=3/12), mutations (N=3/12) or both (N=2/12) sometimes at a sub-clonal level.																					
25658628	BAP1	Loss of Expression; mutation	Malignant mesothelioma	IHC revealed loss of BAP1 nuclear staining in 47 of these 70 MM biopsies (67.1%). Our findings conclusively establish BAP1 as the most commonly mutated gene in MM, regardless of ethnic background or other clinical characteristics.																					
25521456	BAP1	Mutation 	Cutaneous Melanoma	Genetic depletion of BAP1 in melanoma cells reduced proliferation and colony-forming capability, induced apoptosis, and inhibited melanoma tumor growth in vivo.																					
25488749	BAP1	Mutation	Malignant Pleural Mesothelioma	Integrative analysis of mutations and somatic copy-number alterations revealed frequent genetic alterations in BAP1, NF2, CDKN2A, and CUL1.																					
25228651	BAP1	Underexpression	Breast Adenocarcinoma	BAP1 was downregulated in metastatic adenocarcinoma breast cell lines compared with noncancerous human breast epithelial cells.																					
24867389	BAP1	Mutation	Intrahepatic Cholangiocarcinomas	IDH1/2 (p=0.0005) and BAP1 (p=0.0097) mutations were characteristic of ICC, while KRAS (p=0.0019) and TP53 (p=0.0019) were more frequent in ECC and GBC.																					
24633195	BAP1	 Loss of Expression; Mutation	Uveal Melanoma	BAP1 staining was absent in 43% of the cases. Patients with a BAP1 mutation and absent BAP1 expression had an almost eightfold higher chance of developing metastases compared with those without these changes (P=0.002).																					
24382589	BAP1	Loss of Expression	Renal Cell Carcinoma	A total of 10.5% of tumors were BAP1-negative, 84.8% of tumors were BAP1-positive, and 4.6% of tumors had ambiguous staining for BAP1. Patients with BAP1-negative tumors have an increased risk of ccRCC-related death (hazard ratio [HR]= 3.06; 95% confidence interval [CI]= 2.28-4.10; P = 6.77 × 10(-14) ).																					
24247622	BAP1	Loss of Expression; Underexpresison	Uveal Melanoma	BAP1 expression was absent in 23 (58%) tumours, heterogenous in seven (18%) tumours, and diffuse in 10 (25%) tumours.																					
24187051	BAP1	Mutation	Uveal Melanoma	This suggests that, consistent with a classic tumour suppressor model, carriers of damaging mutations in BAP1 are predisposed to UM.																					
24166983	BAP1	Mutation	Renal Cell Carcinoma	BAP1-mutated tumors were associated with metastatic disease at presentation (P=0.023), advanced clinical stage (P=0.042) and a trend towards shorter recurrence free survival (P=0.059) when compared with tumors exclusively mutated for PBRM1.																					
24076305	BAP1	Loss of Expression	Uveal Melanoma	BAP1 loss was associated with adverse clinicopathological variables, including high Fuhrman grade (p <0.0001), advanced pT stage (p = 0.0021), sarcomatoid dedifferentiation (p = 0.0001) and necrosis (p <0.0001).																					
23963927	BAP1	Overexpression	Malignant Pleural Mesothelioma	BAP1 expression was not associated with asbestos exposure but we detected a significant effect of BAP1 expression on overall survival time--the higher the BAP1 expression (non-mutated BAP1), the shorter the overall survival.																					
23887304	BAP1	Loss of Expression	Uveal Melanoma	SF3B1 mutation was found in 1 of 26 tumors (4%), whereas loss of BAP1 expression was present in 13 of 16 tumors (81%).																					
23526420	BAP1	Underexpression	Colorectal Carcinoma	We found that the mRNA and protein levels of BAP1 were down-regulated in 6 out of 8 cases of CRC tissues compared with their adjacent non-cancerous tissues.																					
23333114	BAP1	Mutation	Renal Cell Carcinoma	We discovered that BAP1 is mutated in about 15% of clear-cell renal-cell carcinoma, and that BAP1 and PBRM1 mutations are largely mutually exclusive.																					
22935333	BAP1	Mutation	Malignant mesothelioma; uveal melanoma; cutaneous melanoma	Malignant mesothelioma, uveal melanoma, cutaneous melanoma, and MBAITs prevalence was significantly higher in the BAP1-mutated cohort (p �?0.001).																					
22863556	BAP1	Overexpression	Non-Small Cell Lung Cancer	Results revealed 49 (47.5%) patients were classified with high expression of BAP1. There was also a significant association between BAP1 expression and histological type (p = 0.014), while expression of BAP1 was not correlated with other clinical or pathological characteristics.																					
22321046	BAP1	Mutation	Malignant Mesothelioma	All but one of the 14 BAP1 gene mutations were found in the epithelioid-type MMs; BAP1 mutations were found in 13 of 16 epithelioid-type MMs, but in only one of seven non-epithelioid-type MMs (13/16 vs 1/7; P = 0.005).																					
21941004	BAP1	Loss of Expression; Underexpresison	Uveal Melanoma; Lung adenocarcinoma; Meningioma	Biallelic inactivation of BAP1 and decreased BAP1 expression were identified in the UM, lung adenocarcinoma and meningioma tumours from three family members with this germline BAP1 mutation.																					
21874003	BAP1	Loss of expression	Melanoma	These findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm.																					
21051595	BAP1	Loss of Expression	Uveal Melanoma	These findings implicate loss of BAP1 in uveal melanoma metastasis and suggest that the BAP1 pathway may be a valuable therapeutic target.																					
27665474	BAP1	Overexpression	Non-Small Cell Lung Cancer	We evaluated the expression of class I HDACs in non-small cell lung cancer (NSCLC) cells and found that HDAC2 was significantly increased in NSCLC cells as compared with the normal bronchial epithelial cell line BEAS-2B.																					
27432453	BAP1	Overexpression	Breast Carcinoma	In breast cancer, HDAC2 expression was significantly increased than in fibroadenoma (P = 0.015), and correlated with lymph node metastasis (P = 0.002), advanced clinical stages (P = 0.016) and high histological grade (P = 0.001).				Ki67	Positive correlation	Significant positive correlations were found between HDAC2 and Ki67, HDAC1 and multidrug resistance protein, HDAC2 and breast cancer resistance protein, HDAC2 and multidrug resistance protein.															
27266347	BAP1	Underexpression	Lung Adenocarcinoma	Compared with the para-cancer tissues of 73 cases, the expression of HDAC2 at mRNA and protein levels in lung adenocarcinoma tissues were significantly lower (t=4.15, 8.006, all P<0.01). and the content of IL-8 and TNF-α at mRNA levels were increased (t=-4.252, -5.																					
23110995	HDAC1	Overexpression	Non-Small Cell Lung Cancer	Expression of HDAC1 and that of HDAC2 were correlated, and significantly higher in NSCLC tissues than in normal lung tissues (P<0.05).																					
26254420	HDAC2	Overexpression	Malignant Pleural Mesothelioma	In the Gordon Mesothelioma Study, 34 of them were assessed out of which SUMO1, UBC3, KIAA0101, HDAC2, DAXX, RBBP4, BBS1, NONO, RBBP7, HTRA2, and STUB1 were significantly overexpressed whereas TRAF6 and MTA2 were significantly underexpressed in MPM patients (network 2).																					
23420051	HDAC2	Overexpression	Ovarian Carcinoma	Furthermore, the expression of DNMT1, DNMT3b, HDAC1 and HDAC2 was significantly higher in stage III/IV compared with stage I/II ovarian carcinomas.				HDAC1; HDAC3; HDAC8	Positive correlation	The expression of HDAC2 was positively correlated with HDCA1, HDAC3 and HDAC8, and DNMT1 was positively correlated with DNMT3b.															
25139823	HDAC2	Overexpression	Breast Carcinoma	When the combined expression levels were analyzed, high expression of LSD1, HDAC2 and SIRT1 showed shorter patient survival time and shorter time to tumor relapse and correlated with poor tumor differentiation and a high level of tumor cell proliferation.																					
25076845	HDAC2	altered expression	Diffuse Large B-Cell Lymphoma	High nuclear expression of HDAC2 may play an important role in survival of DLBCL patients, especially in those with nodal lymphoma, which is associated with a shorter survival time.																					
23420051	HDAC1	Overexpression	Ovarian Carcinoma	Furthermore, the expression of DNMT1, DNMT3b, HDAC1 and HDAC2 was significantly higher in stage III/IV compared with stage I/II ovarian carcinomas.																					
24448241	HDAC2	Overexpression	Hepatocellular Carcinoma	In this study, we show that HDAC2 expression is upregulated in a large cohort of patients with human hepatocellular carcinoma, and that high expression of HDAC2 was significantly associated with poor prognosis of patients with hepatocellular carcinoma.	mTORC1	positive regulation	Growth factor-induced mTORC1 activates the nuclear translocation of NF-κBp50, where it binds to the intragenic sequences of the HDAC2 gene and promotes its transcription.																		
23475622	SIRT6	Underexpression	Head and Neck Squamous Cell Carcinoma	Our results demonstrated that the expression levels of SIRT1, SIRT2, SIRT3, SIRT5, SIRT6, and SIRT7 were significantly downregulated in cancerous tissues compared with noncancerous tissues (all p<0.01).																					
24010203	HDAC2	Overexpression	Prostate Carcinoma	HDAC1 and HDAC2 were expressed in 59.7 and 70.7% of the patients, respectively, located in the nuclei of cancer cells, more highly in those with higher than in those with lower Gleason scores (P < 0.05). Univariate analysis demonstrated that the HDAC2 expression, pre-operative PSA levels, Gleason scores and clinical stages of prostate cancer were important factors affecting the patients'survival (P < 0.05).																					
23475622	SIRT2	Underexpression	Head and Neck Squamous Cell Carcinoma	Our results demonstrated that the expression levels of SIRT1, SIRT2, SIRT3, SIRT5, SIRT6, and SIRT7 were significantly downregulated in cancerous tissues compared with noncancerous tissues (all p<0.01).																					
23627572	HDAC3	Overexpression	Breast Carcinoma	HDAC2 and HDAC3 are strongly expressed in subgroups of tumor with features of a more aggressive tumor type.																					
23544610	HDAC2	Overexpression	Oesophagal Squamous Cell Carcinoma	Expression of HDAC2 was significantly higher in ESCC than in adjacent non-tumor tissues.																					
23627572	HDAC2	Overexpression	Breast Carcinoma	HDAC2 and HDAC3 expression was significantly higher in less differentiated tumors: HDAC2 (n=207), p<0.001 and HDAC3 (n=220), p<0.001 and correlated with negative hormone receptor status: HDAC2 (n=206), p=0.02 and HDAC3 (n=219), p=0.04.				HER2	Positive correlation	Additionally, a high HDAC2 expression was significantly associated with an overexpression of HER2 (n=203, p=0.005) and the presence of nodal metastasis (n=200, p=0.04).HDAC1 was highly expressed in hormone receptor positive tumors (n=203; p<0.001).															
23175521	HDAC2	Overexpression	Gastric carcinoma	HDAC2 gene and protein expression was significantly upregulated in different histopathologic grades of human gastric cancers and cancer cell lines.																					
23627572	HDAC1	Overexpression	Breast Carcinoma	In this cohort, we found a differential positive expression of HDAC1, HDAC2 and HDAC3. HDAC2 and HDAC3 expression was significantly higher in less differentiated tumors: HDAC2 (n=207), p<0.001 and HDAC3 (n=220), p<0.001 and correlated with negative hormone receptor status: HDAC2 (n=206), p=0.02 and HDAC3 (n=219), p=0.04.				HER2	Positive correlation	Additionally, a high HDAC2 expression was significantly associated with an overexpression of HER2 (n=203, p=0.005) and the presence of nodal metastasis (n=200, p=0.04).HDAC1 was highly expressed in hormone receptor positive tumors (n=203; p<0.001).															
23724067	HDAC3	Overexpression	Colorectal Carcinoma	We found HDAC1, HDAC2, HDAC3, HDAC5, and HDAC7 all to be up-regulated in the field of human CRC.																					
23724067	HDAC1	Overexpression	Colorectal Carcinoma	We found HDAC1, HDAC2, HDAC3, HDAC5, and HDAC7 all to be up-regulated in the field of human CRC.																					
21713366	HDAC2	Overexpression	Hepatocellular Carcinoma	High HDAC2 expression was associated with poor survival in low-grade and early-stage tumors (p < 0.05).																					
23948281	HDAC2	Overexpression	Acute Lymphoid Leukemia	Correlation analysis of HDAC expression with clinicopathological parameters revealed that high HDAC1, HDAC2, HDAC4 and HDAC11 levels were significantly associated with unfavorable prognostic factors.																					
20924032	HDAC2	Overexpression	Oesophagal Adenoarcinoma	High HDAC2 expression is associated with aggressive tumour behaviour in oesophageal adenocarcinomas.																					
20178884	HDAC2	Overexpression	Endometrial Carcinoma	The positivity index for histone deacetylase 2 was significantly increased in higher-grade carcinomas (positivity index for grade 3, 124.9 +/- 28.4) compared with grade 1 tumors (86.0 +/- 41.0) and was positively correlated with that for Ki-67.				Ki-67	Positive correlation	The positivity index for histone deacetylase 2 was significantly increased in higher-grade carcinomas (positivity index for grade 3, 124.9 +/- 28.4) compared with grade 1 tumors (86.0 +/- 41.0) and was positively correlated with that for Ki-67.															
23948281	HDAC1	Overexpression	Acute Lymphoblastic Leukemia	HDAC1, HDAC2 and HDAC8 showed significantly higher expressions in ALL samples. Correlation analysis of HDAC expression with clinicopathological parameters revealed that high HDAC1, HDAC2, HDAC4 and HDAC11 levels were significantly associated with unfavorable prognostic factors.																					
27617580	MECOM	Aberrant Expression	Prostate Carcinoma	Instead, in a PCa progression cohort comprising 219 samples from patients with primary PCa, lymph node and distant metastases, EVI1 protein was heterogeneously distributed within samples and high expression is associated with tumor progression (P<0.001), suggesting EVI1 induction as a driver event.																					
26729571	MECOM	Overexpression	Acute Myeloid Leukemia	However, EVI1 overexpression has been revealed as an important independent adverse prognostic marker in adult AML and defines distinct risk categories in 11q23-rearranged AML.																					
25959919	MECOM	Overexpression	Hepatocellular Carcinoma	High EVI1 expression was significantly associated with larger tumor size and higher level of des-γ-carboxy prothrombin, a tumor marker for HCC.																					
25298035	MECOM	Aberrant Expression	Acute Myeloid Leukemia	Aberrant expression of Evi1 is observed in 5% to 10% of de novo acute myeloid leukemia (AML) patients and predicts poor prognosis, reflecting multiple leukemogenic properties of Evi1.																					
23776681	MECOM	Overexpression (Mutation)	Acute Myeloid Leukemia	Overexpression of EVI1 in acute myeloid leukaemia (AML) is frequently associated with 3q26 rearrangements and confers extremely poor prognosis.																					
22887804	MECOM	Overexpression (Mutation)	Acute Myeloid Leukemia	Elevated EVI1 expression was detected in nearly all cases with cryptic EVI1 rearrangements: Median %EVI1/ABL1 was 92.8 (range: 29.8-146.1) in inv(3)(p24q26), 104.9 (41.4-176.3) in t(3;21)(q26;q11), and 101.8 (4.4-210.4) in der(7)t(3;7)(q26;q21).																					
21750091	MECOM	Overexpression	Acute Myeloid Leukemia	Over-expression of EVI1 through either 3q26 rearrangements, MLL fusions, or other unknown mechanisms confers a poor prognosis in acute myeloid leukemia.																					
20462630	MECOM	Overexpression	Ovarian Carcinoma	EVI1 and EVI1s mRNAs were ubiquitously expressed in ovarian cancers and benign gynecologic tissues examined, with highest expression of both isoforms noted in the cancer samples.																					
27574100	MTA1	Overexpression	Gastric Carcinoma	The expression of all the MTA family members was significantly increased in a stage-dependent manner, and elevated expression of all of the MTA family members was correlated with metastatic factors and prognosis in GC patients.																					
27035126	MTA1	Overexpression	Oesophagal Squamous Cell Carcinoma	The expression of MTA1 protein in ESCC tissues was significantly higher than that of the adjacent tissues (42.1 vs. 11.2%; P<0.05), and was positively correlated with the tumor size, extent of tumor invasion and lymph node metastasis (P<0.05).																					
26878004	MTA1	Overexpression	Malignant Salivary Gland Neoplasm	MTA1 expression in the malignant tumors was significantly higher than that in pleomorphic adenoma (P<0.001), and higher in pleomorphic adenoma than the normal salivary glands(P< 0.001). Our findings demonstrate that MTA1 was significantly overexpressed in malignant salivary gland neoplasm in comparison to a lower level in benign pleomorphic adenoma, suggesting that MTA1 protein might be involved in carcinogenesis.																					
26870192	MTA1	Overexpression	Lung Adenocarcinoma	High protein expression levels of MTA1 were commonly observed in patients with lung invasive adenocarcinoma, and were significantly correlated with tumor size (P=0.030), lymph node metastasis (P=0.021) and microvessel density (P=0.015).																					
26689197	MTA1	Overexpression	Malignant Pleural Mesothelioma	MTA1 expression is up-regulated in MPM and shown a negative correlation with E-cadherin expression.				E-cadherin	Negative Correlation	MTA1 expression is up-regulated in MPM and shown a negative correlation with E-cadherin expression.															
26543080	MTA1	Overexpression	Colorectal Carcinoma	The expression of MTA1 was significantly increased in CRC tissues compared to paired normal colorectal tissues, but decreased expression of MTA1 was correlated with poor prognosis (higher lymph node involvement stage, TNM stage, local invasion and recurrence) that was associated with increased expression of VEGFC and -D and the receptor VEGFR3.				VEGFC; VEGFD; VEGFR3	Negative Correlation	The expression of MTA1 was significantly increased in CRC tissues compared to paired normal colorectal tissues, but decreased expression of MTA1 was correlated with poor prognosis (higher lymph node involvement stage, TNM stage, local invasion and recurrence) that was associated with increased expression of VEGFC and -D and the receptor VEGFR3.															
25977170	MTA1	Overexpression	Human Pituitary Adenoma	MTA1 was expressed at significantly higher levels in large tumors and in those with higher tumor grade.																					
25797255	MTA1	Overexpression	Prostate Carcinoma	Importantly, YB-1 and MTA1 protein levels significantly increase the predictive capacity of a clinical model for prostate cancer recurrence.																					
25688501	MTA1	Overexpression	Gall Bladder Adenocarcinoma	Positive MTA1 expression was significantly lower, but positive KAI-1 and KiSS-1 expressions were significantly higher in cases with well-differentiated adenocarcinoma, smaller tumor mass, no metastasis of lymph node, and no invasion of regional tissues than in cases having poorly differentiated adenocarcinoma, larger tumor mass, metastasis and invasion.																					
25502548	MTA1	Overexpression	Small Cell Lung Cancer	First we demonstrated the overexpression of MTA1 in SCLC specimens.																					
25416046	MTA1	Overexpression	Nasopharyngeal Carcinoma	Patients with high MTA1 expression exhibited significantly worse distant metastasis-free survival (DMFS) than those with low MTA1 expression (90.75% vs. 70.81%, P = 0.017).																					
25301048	MTA1	Overexpression	Oral Squamous Cell Carcinoma	Frequency of MTA1 expression in SCCs was recorded as 97.7%, which was significantly higher than that of the control group (33.3%).																					
25100829	MTA1	Overexpression	Nasopharyngeal Carcinoma	In this study, we reported the overexpression of MTA1 in 29/60 (48.3%) NPC patients, and the overexpression of MTA1 significantly correlated with tumor metastasis.							EMT; Wnt1 pathway; β-catenin activation.	positive regulation	The overexpression of MTA1 promoted EMT via the Wnt1 pathway and β-catenin activation.												
24599674	MTA1	Overexpression	Non-Small Cell Lung Cancer	Moreover, multivariate survival analysis showed that MTA1 overexpression was an independent predictor of poor prognosis (HR=1.90, 95 % CI: 1.53-2.37, P<0.001). In addtional, MTA1 overexpression was significantly associated with tumor size (OR=2.72, 95 % CI=1.44-5.14, P=0.002), tumor stage (OR=2.44, 95 % CI=1.67-3.57, P<0.001), depth of invasion (OR=2.63, 95 % CI=1.74-3.97, P<0.001), and lymph node metastasis (OR=2.57, 95 % CI=1.57-4.19, P<0.001).																					
23900262	MTA1	Overexpression	Prostate Carcinoma	We found that nuclear MTA1 overexpression was positively correlated with the severity of disease progression reaching its highest levels in metastatic PCa.																					
23866297	MTA1	Overexpression	Cervical Carcinoma	High levels of MTA1 protein were clearly correlated with histologic grade (P = .006), lymph node metastasis (P = .001), and recurrence (P = .016).																					
23371285	MTA1	Overexpression	Colorectal Carcinoma	IHC indicated low or no nuclear MTA1 expression in the normal tissues and significantly higher expression in Grade II, Grade III and liver metastasis tumors.																					
23227138	MTA1	Overexpression	Prostate Carcinoma	RT-PCR analysis and Western blot assay showed that MTA1 expression is significantly higher in highly metastatic prostate cancer PC-3M-1E8 cells (1E8) than in poorly metastatic prostate cancer PC-3M-2B4 cells (2B4).																					
22864797	MTA1	Overexpression	Breast Carcinoma	Breast cancer with lymph node metastasis (LNM) showed significantly higher frequency of overexpressed cyclin D1, β-catenin, and MTA1 (P < 0.05).																					
22844865	MTA1	Overexpression	Nasopharyngeal Carcinoma	The positive expression of MTA1 in the NPC tissues and metastatic lymph nodes was significantly higher than that in the chronic nasopharyngitis tissues (p < 0.05).																					
22547301	MTA1	Overexpression	Oesophagal Squamous Cell Carcinoma	MTA1 protein overexpression correlated with significantly worsened 5-year survival for all patients as well as those with T2 and T3 tumors, N0 nodal status or N1 nodal status.																					
22537306	MTA1	Overexpression	Nasopharyngeal Carcinoma	Nuclear overexpression of MTA1 correlated positively with N classification (P = 0.02), clinical stage (P = 0.04), distant metastasis (P < 0.01) and death (P = 0.01).																					
22270988	MTA1	Overexpression	Oesophagal Squamous Cell Carcinoma	Survival analysis showed that patients with MTA1 protein high expression had significantly poor overall 5-year survival (P = 0.002), and the factor found on multivariate analysis to significantly affect overall survival was only pathologic stage (P = 0.040).																					
22176993	MTA1	Overexpression	Cervical Carcinoma	Compared with control group, MTA1 mRNA and protein were significantly overexpressed in MTA1 group, while MTA1-siRNA group showed lower MTA1 expression.																					
21949998	MTA1	Overexpression	Nasopharyngeal Carcinoma	The MTA1 mRNA expression in NPC with lymph node metastasis was significantly higher than in NPC without lymph node metastasis (83.3% vs. 60.0%, P<0.05).																					
21448429	MTA1	Overexpression	Colorectal Carcinoma	Additionally, high MTA1 expression level was correlated with a large tumor size (P < 0.05).				VEGF-C	Positive correlation	A significant correlation was found between MTA1 and VEGF-C protein expressions in tumor cells (r = 0.371, P < 0.05).															
21290196	MTA1	Overexpression	Non-Small Cell Lung Cancer	MTA1 protein overexpression and high MVD were significantly associated with tumor relapse (P = 0.004 and 0.007) and poor 5-year disease-free survival (P = 0.001 and 0.004).																					
21240515	MTA1	Overexpression	Tonsil Carcinoma	There was a significant correlation between the expression of MTA1 and lymph node metastasis (P = 0.034*).																					
20935042	MTA1	Overexpression	Non-Small Cell Lung Cancer	Tumor differentiation and tumor diameter were significantly associated with MTA1 protein overexpression, while not correlated with age, sex, pathological type or smoking status. The five-year survival rate of patients with MTA1 protein overexpression was significantly lower than that of those without expression (40.9% vs. 84.1%; P<0.001).																					
20717904	MTA1	Overexpression	Prostate Carcinoma	MTA1 was expressed at higher levels in PCa cell lines than in normal prostate epithelial cells.																					
20661085	MTA1	Overexpression	Non-Small Cell Lung Cancer	Overexpression of MTA1 (immunoreactivity scoring >4) was shown in 61.0% of the NSCLC cases but only in 9.4% of their adjacent nonneoplastic lung tissues (p < 0.001). The MTA1 expression level was correlated with lymph node metastasis (p = 0.013) and clinical stage (p = 0.002).																					
27507654	HDAC1	Overexpression	Hepatocellular Carcinoma	The results showed that the expressions of amyloid precursor protein and histone deacetylase 1 were significantly higher in hepatocellular carcinoma tissues than that in adjacent tissues (P < .05), however, there was no statistical difference between amyloid precursor protein and histone deacetylase 1 with tumor stages.							MMP	positive regulation	HDAC1 regulated invasiveness by increasing matrix metalloproteinase (MMP) expression.												
27152243	HDAC1	Overexpression	Colorectal Carcinoma	Furthermore, also HDAC1 (62%), HDAC2 (100%) and HDAC3 (72%) expression was frequent, revealing four CRC types: cases expressing 1) HDAC1, HDAC2 and HDAC3 (49%), 2) HDAC2 and HDAC3 (30%), 3) HDAC1 and HDAC2 (10.5%) and 4) exclusively HDAC2 (10.5%). Correlation to clinico-pathological parameters (pT, pN, G, MSI status) revealed that heterogeneous HDAC1 expression correlated with lymph node status (p=0.012).																					
26588579	HDAC1	Overexpression	Laryngeal Squamous Cell Carcinoma	The expression of HDAC1 was up-regulated and significantly associated with T classification, lymph node metastases, tumor location and clinical stage.																					
26423403	HDAC1	Overexpression	Colorectal Carcinoma	PAK1, NEK6, AURKA, AURKB, HDAC1, and HDAC7 were significantly more overexpressed in CRC subjects compared to the controls (p<0.05).																					
24441677	HDAC3	Overexpression	Lung Carcinoma	Finally, immunohistochemistry on human lung cancer specimens revealed a significant increase in DNMT1, HDAC1, HDAC2, and HDAC3 expression, supporting our hypotheses that class I HDACs are mediators of DNMT1 stability.																					
25794974	HDAC1	Overexpression	Prostate Carcinoma	High HDAC1 expression was associated with high Gleason grade (p<0.0001), advanced pathological tumor stage (p<0.0001), positive nodal status (p=0.0010), elevated preoperative PSA-level (p=0.0127), early PSA recurrence (p<0.0001) and increased cell proliferation (p<0.0001).																					
25792651	HDAC1	Overexpression	Hepatocellular Carcinoma	Histone deacetylase 1 and histone 3 were more strongly detected in hepatocellular carcinoma tissue and fibrosarcoma cells than in liver tissues and fibroblast cells, respectively. Histone deacetylase 1 overexpression and hypoacetylation of histone 3 might play critical roles in the modulation of histone 3 in human hepatocellular carcinoma																					
24441677	HDAC2	Overexpression	Lung Carcinoma	Finally, immunohistochemistry on human lung cancer specimens revealed a significant increase in DNMT1, HDAC1, HDAC2, and HDAC3 expression, supporting our hypotheses that class I HDACs are mediators of DNMT1 stability.																					
24668547	HDAC2	Overexpression	Gastric Carcinoma	On the other hand, upregulation of HDAC2, GCN5, and MYC was observed in gastric tumors compared with adjacent nontumors (P < 0.05).																					
25341045	HDAC1	Overexpression	Acute Myeloid Leukemia	Here, we found that HDAC1 expression was negatively correlated with that of Krüppel-like factor 4 (Klf4) and that AML patients with lower HDAC1 level had better prognosis.																					
24762689	HDAC1	Overexpression	Non-Small Cell Lung Cancer	The protein expressions of HDAC1 and DNMT1 in patients with lung cancer (145 ± 53, 50 ± 11) were higher than those in control group (78 ± 56, 27 ± 6).				DNMT1	Positive correlation	There was a positive association between the protein expressions of HDAC1 and DNMT1 in non-small-cell lung cancer (r = 0.525, P = 0.000).															
24668547	HDAC1	Underexpression	Gastric Carcinoma	Our results demonstrated downregulation of HDAC1, PCAF, and CDKN1A in gastric tumors compared with adjacent nontumors (P < 0.05).				CDKN1A	Positive correlation	The mRNA level of MYC was correlated to HDAC3 and GCN5 (P < 0.05), whereas CDKN1A was correlated to HDAC1 and GCN5 (P < 0.05 and P < 0.01, respectively).															
25007146	SMARCB1	Loss of expression	Sinonasal Carcinoma	Nine of 142 (6%) primary sinonasal carcinomas showed loss of SMARCB1 expression by immunohistochemistry.																					
25007146	SMARCB1	Loss of expression	Squamous Cell Carcinoma	Fluorescence in situ hybridization analysis revealed SMARCB1 deletions in 6 of 8 (75%) carcinomas																					
25548579	HDAC2	Overexpression	Breast Carcinoma	Although the expression of HDACs did not exhibit prognostic significance in the entire cohort, high expression of HDAC1 and HDAC6 was associated with improved overall survival (OS) in patients with ER-positive tumors (p=0.017 and p=0.029, respectively), and high expression of HDAC2 was correlated with improved OS in ER-negative tumors (p=0.048) on univariate analysis.																					
25548579	HDAC1	Underexpression	Breast Carcinoma	Although the expression of HDACs did not exhibit prognostic significance in the entire cohort, high expression of HDAC1 and HDAC6 was associated with improved overall survival (OS) in patients with ER-positive tumors (p=0.017 and p=0.029, respectively), and high expression of HDAC2 was correlated with improved OS in ER-negative tumors (p=0.048) on univariate analysis.																					
25548579	HDAC6	Overexpression	Breast Carcinoma	High expression of HDAC6 was correlated with a younger age (p<0.001), ER expression (p=0.025), progesterone receptor expression (p=0.034), molecular subtype (p=0.023), and HER2 amplification (p=0.011).																					
23110022	HDAC1	Underexpression	Breast Carcinoma	HDAC1 expression was significantly reduced in proportion to higher histologic grade, higher nuclear pleomorphism score, and higher mitotic counts, and with lower estrogen receptor expression.																					
25791281	HDAC3	Overexpression	Glioma	Among all patients studied, the expression of HDAC1 and HDAC3 was inversely correlated with survival, whereas the expression of HDAC4, HDAC5, HDAC6, HDAC11 and SIRT1 was significantly and positively correlated with survival time of patients with gliomas.																					
25791281	HDAC1	Overexpression	Glioma	Among all patients studied, the expression of HDAC1 and HDAC3 was inversely correlated with survival, whereas the expression of HDAC4, HDAC5, HDAC6, HDAC11 and SIRT1 was significantly and positively correlated with survival time of patients with gliomas.																					
22037263	HDAC1	Underexpression	Mesenchymal Sarcoma	HDAC1, in contrast, displayed lower expression in translocation-associated sarcomas than in other mesenchymal tumors or in normal tissues.																					
21982637	HDAC1	Overexpression	Intrahepatic Cholangiocarcinoma	HDAC1 expression correlated significantly with higher stage carcinoma, lymph node metastasis, and vascular invasion.				HIF-1α	Positive correlation	Furthermore, there was a significant correlation between HDAC1 expression and HIF-1α expression (P = .007).															
21725604	HDAC1	Overexpression	Gastric Carcinoma	One of the genes abundantly expressed in tumor tissue on the differential mRNA displays was identified as histone deacetylase 1 (HDAC). HDAC was overexpressed in the tumor tissue in 77% of the cases as determined by quantitative reverse transcription-PCR.																					
21685935	HDAC1	Mutation	Nasopharyngeal Carcinoma	The data provided in this report suggest a critical role of EZH2 in the control of cell invasion and/or metastasis by forming a co-repressor complex with HDAC1/HDAC2/Snail to repress E-cadherin, an activity that might be responsible, at least in part, for the development and/or progression of human NPCs.				EZH2	Complex Formation	The data provided in this report suggest a critical role of EZH2 in the control of cell invasion and/or metastasis by forming a co-repressor complex with HDAC1/HDAC2/Snail to repress E-cadherin, an activity that might be responsible, at least in part, for the development and/or progression of human NPCs.															
21617866	HDAC1	Overexpression	Colon Carcinoma	Regarding the clinicopathological factors, the depth of tumor invasion and stage correlated significantly with HDAC1 expression (p<0.05).				MTA1	Positive correlation	HDAC1 and MTA1 expression levels were significantly related to poorer prognosis															
21466904	HDAC1	Overexpression	Non-Small Cell Lung Cancer	We found that the 5-year disease-free survival rate among patients strongly expressing HDAC1 was significantly poorer than among those expressing lower levels (P=0.005 by log-rank test).																					
21438903	HDAC1	Overexpression	Prostate Carcinoma	Strong HDAC1 expression was correlated with high Gleason score (P = 0.025) and high pT stage (P = 0.012). Patients with strong HDAC1 expression had higher biochemical recurrence rates (P = 0.0010). These results indicate that overexpression of HDAC1 contributes to progression and poor prognosis in prostate cancer.																					
21301206	HDAC1	Overexpression	Pancreatic Carcinoma	In human pancreatic adenocarcinoma tissues and cell lines, HDAC1 was expressed at variably elevated levels.																					
25791281	HDAC6	Underexpression	Glioma	Among all patients studied, the expression of HDAC1 and HDAC3 was inversely correlated with survival, whereas the expression of HDAC4, HDAC5, HDAC6, HDAC11 and SIRT1 was significantly and positively correlated with survival time of patients with gliomas.																					
20467347	HDAC1	Overexpression	Pancreatic Ductal Adenocarcinoma	Histone deacetylase 1 mRNA in pancreatic cancer tissues were significantly higher than in paracancerous tissues (P < 0.05). Immunohistochemistry showed that the indices of HDAC1 in pancreatic cancer tissues and paracancerous tissues were 56.4% (SD, 23.1%) and 6.7% (SD, 5.0%), respectively (P < 0.001).																					
26352599	HDAC2	Overexpression	Hepatocellular Carcinoma	We found that HDAC1 and HDAC2 were upregulated in the majority of HCC tissues.																					
26261485	TP53BP1	Underexpression	Colorectal Carcinoma	53BP1 intensity was found to be associated with tumor location (P < 0.05), and the low expression of 53BP1 revealed decreased survival time compared with high expression in subgroups as male, tumor size > 5 cm, tumor located at right side, T stage as T3-T4, N0, clinical stage as I-II (P < 0.05).																					
24681733	TP53BP1	Overexpression	Cervical Carcinoma	We found that the level of 53BP1 NF increased in the following order: normal cervical tissues, cervical intraepithelial neoplasia (CIN) 1, CIN2/3, and cervical cancers, indicating that the level of 53BP1 NF increases as cervical cancer initiates and progresses.																					
24197907	TP53BP1	Overexpression	Non-Small Cell Lung Cancer	Patients expressing low levels of both BRCA1 and 53BP1 obtained a median progression-free survival of 10.3 months and overall survival of 19.3 months, while among those with low BRCA1 and high 53BP1 progression-free survival was 5.9 months (P less than 0.0001) and overall survival was 8.2 months (P=0.001).																					
23246380	TP53BP1	Overexpression	Breast Carcinoma	BRCA1-mutated ovarian carcinomas have higher 53BP1 protein expression than wildtype or BRCA2-mutated carcinomas, in opposition to previous findings in breast carcinomas.																					
22520477	TP53BP1	Underexpression	Breast Carcinoma	Low expression of 53BP1 was associated with worse outcomes for all endpoints studied, including 10-year IBRFS (76.8% vs. 90.5%; P=.01), OS (66.4% vs. 81.7%; P=.02), CSS (66.0% vs. 87.4%; P<.01), DMFS (55.9% vs. 87.0%; P<.01), and RFS (45.2% vs. 80.6%; P<.01).																					
20098063	TP53BP1	Overexpression	Gastric Carcinoma	In gastric carcinoma cells, 53BP1 and gamma-H2AX were highly expressed as compared to normal epithelial cells and gastric adenoma (p<0.01).																					
27340867	SMARCA1	Loss of Expression	Ovarian Carcinoma	Cases which lack at least one SWI/SNF complex component exhibited significantly more advanced stages, faster growth and stronger nuclear atypia compared with SWI/SNF-positive samples (p<0.05).				SNF	Complex formation	Cases which lack at least one SWI/SNF complex component exhibited significantly more advanced stages, faster growth and stronger nuclear atypia compared with SWI/SNF-positive samples (p<0.05).															
26352599	HDAC1	Overexpression	Hepatocellular Carcinoma	We found that HDAC1 and HDAC2 were upregulated in the majority of HCC tissues.																					
26812616	SMARCA1	genetic alteration	Oesophagal Squamous Cell Carcinoma	These results showed that genetic and epigenetic alterations of the SWI/SNF complex are present in ESCCs, and suggested that genetic alterations are induced at an early stage of esophageal squamous cell carcinogenesis.				SNF	Complex formation	These results showed that genetic and epigenetic alterations of the SWI/SNF complex are present in ESCCs, and suggested that genetic alterations are induced at an early stage of esophageal squamous cell carcinogenesis.															
26345631	SMARCA1	Loss of expression	Non-Small Cell Lung Cancer	Collectively, these results indicate that the loss of the SWI/SNF complex was related to dedifferentiation in NSCLC.				SNF	Complex formation	Collectively, these results indicate that the loss of the SWI/SNF complex was related to dedifferentiation in NSCLC.															
26126041	SMARCA1	Loss of expression	Endometrial Carcinoma	Abnormal SWI/SNF subunit expression was detected in four dedifferentiated carcinomas including three with loss of BRG1 staining limited to the undifferentiated tumour component and one case with loss of INI1 expression in both low- and high-grade elements; the latter case also showed BAF250a deficiency in the undifferentiated tumour cells.				SNF	Complex formation	Abnormal SWI/SNF subunit expression was detected in four dedifferentiated carcinomas including three with loss of BRG1 staining limited to the undifferentiated tumour component and one case with loss of INI1 expression in both low- and high-grade elements; the latter case also showed BAF250a deficiency in the undifferentiated tumour cells.															
27506904	HDAC6	Overexpression	Renal Cell Carcinoma	Our analysis of tumor and matched non-tumor tissues from radical nephrectomies showed overexpression of class I and II HDACs (HDAC6 only in a subset of patients).																					
27267806	HDAC6	Overexpression	Glioblastoma	Here, we report that HDAC6 is overexpressed in glioblastoma tissues and cell lines.																					
27221381	HDAC6	Overexpression	Lung Adenocarcinoma	In the present study, HDAC6 was found to be overexpressed in lung adenocarcinoma cell lines and was negatively correlated with the prognosis of patients with lung adenocarcinoma.																					
26086159	HDAC6	Underexpression	Hepatocellular Carcinoma	ur experiments showed HDAC6 was significantly downregulated in HCC tissues (P = 0.025), and low expression of HDAC6 was found to be closely associated with recurrence (P = 0.006), and could predict poor recurrence-free survival (P = 0.047) for HCC patients with LT.																					
27283490	HDAC8	Overexpression	Hepatocellular Carcinoma	We then found that the expression of both AHR and HDAC8 was significantly upregulated in both HCC cell lines and tumor tissues compared to human normal hepatocytes and matched non-tumor tissues.																					
25111897	HDAC6	Overexpression	Gastric Carcinoma	Aberrant HDAC6 overexpression was observed in a subset of human gastric cancer cells.																					
24264142	HDAC6	Overexpression	Pancreatic Carcinoma	In this study, we find that histone deacetylase 6 (HDAC6), a member of the class II HDAC family, is highly expressed at both protein and mRNA levels in human pancreatic cancer tissues. HDAC6 does not obviously affect pancreatic cancer cell proliferation or cell cycle progression.																					
23402884	HDAC6	Overexpression	Hepatocellular Carcinoma	In the present study, we found that mRNA and protein levels of HDAC6 were up-regulated in HCC tissues and cell lines.																					
22967444	HDAC6	Overexpression	Laryngeal Squamous Cell Carcinoma	There was a high level expression of HDAC6 protein in laryngeal squamous cell carcinoma, and its expression was not related to age and sex of the patients (P > 0.05), but closely associated with the degree of histological differentiation, TNM staging and lymph node metastasis (P < 0.05).																					
22766642	HDAC6	Overexpression	Hepatocellular Carcinoma	Overexpression of HDAC6 protein to a level higher than that in the corresponding normal hepatocytes was observed in 14 (20%) of the 70 primary HCCs, and was significantly correlated with high clinical stage, number of tumors, vascular invasion and intrahepatic metastasis (P<0.05).																					
21750953	HDAC6	Underexpression	Cholangiocarcinoma	The expression of HSP70, RB1, and HDAC6 was dominant down-regulation, while the expression of cyclin D1 and HSP90 was dominant up-regulation. A significant association was found between HDAC6 and CCA staging (p=0.000), CCA gross type and HSP70 (p=0.046) as well as RB1 expression (p=0.046).																					
27656868	SMARCB1	underexpression; Loss of expression	Endometrial Carcinoma	SMARCB1 was intact in 26 of 17 (96%) and lost in 1 of 27 (4%) cases.																					
27339451	SMARCA1	Aberrant expression	Urothelial Carcinoma	Our results are in line with recent studies reporting involvement of the SWI/SNF complex in the dedifferentiation process of a variety of epithelial neoplasms in different organs, including the urinary tract, and association with aggressive clinical course.				SNF	Complex formation	Our results are in line with recent studies reporting involvement of the SWI/SNF complex in the dedifferentiation process of a variety of epithelial neoplasms in different organs, including the urinary tract, and association with aggressive clinical course.															
27339451	SMARCB1	Loss of expression	Urothelial Carcinoma	SMARCA2 was most frequently lost (six) followed by ARID1A (four), SMARCB1/INI1 (two), SMARCA4 (one), and SMARCC1 (one).																					
27326246	SMARCB1	Mutation	Neuroendocrine Carcinoma	Common aberrations were as follows: SMARCB1 mutation (n=2), TP53 mutation (n=2), STK11 mutation (n=1), RET mutation (n=1), and BRAF mutation (n=1).																					
27184481	SMARCB1	Loss of expression	Colorectal Carcinoma	Global or focal INI1 loss was strongly associated with higher histological grade, larger tumor size and poor overall survival (P<.001).																					
27177850	SMARCB1	Loss of expression	Sinonasal Carcinoma	A diagnosis of metastatic myoepithelial carcinoma was made; however, retrospectively, the surgical excision showed loss of the SMARCB1 (INI-1) tumor suppressor gene by immunohistochemistry.																					
26799435	SMARCB1	Mutation	Renal Cell Carcinoma	We identified a duplication of exon 7 of SMARCB1 on chromosome 22 in the constitutional DNA of the patient (c.796-2246_986 + 5250dup7686), resulting in the generation of a premature stop codon in the second exon 7 copy (p.Glu330*). Immunohistochemical staining with a SMARCB1 antibody revealed a mosaic SMARCB1 expression pattern in the three benign schwannomas, but absence of expression in the malignant tumor cells of the pRCC1.																					
26743474	SMARCB1	Loss of expression	Endometrial Carcinoma	Combining the results from the index and the expansion set, 15 of 30 (50%) of the dedifferentiated carcinomas examined showed either concurrent SMARCA4 and SMARCA2 loss (37%) or concurrent SMARCB1 and SMARCA2 loss (13%) in the undifferentiated component.				SMARCA4	mutual exclusive	The loss of SMARCA4 or SMARCB1 was mutually exclusive.															
26551623	SMARCB1	Loss of expression	Gastrointestinal Carcinoma	SMARCA2 loss was isolated in 5 cases and coexisted with lost SMARCB1 in 5 cases (all 5 SMARCB1-deficient tumors showed loss of SMARCA2 as well).				SMARCA2	correlation	SMARCA2 loss was isolated in 5 cases and coexisted with lost SMARCB1 in 5 cases (all 5 SMARCB1-deficient tumors showed loss of SMARCA2 as well).															
26520417	SMARCB1	Underexpression	Synovial Sarcoma	Reduced expression of SMARCB1 immunoreactivity was therefore found to be highly sensitive and specific for synovial sarcoma, and can be useful for rapidly and accurately confirming the diagnosis of synovial sarcoma																					
26407663	SMARCB1	Underexpression	Sinonasal Carcinoma	Among these, four tumors of the sinonasal tract were found to be SMARCB1 (INI1) deficient and were reclassified as SMARCB1 (INI1)-deficient sinonasal carcinomas.																					
25912315	SMARCB1	underexpression; Loss of expression	Synovial Sarcoma	INI1 expression was 'weak to absent' in 60/68 (88.2%) SSs; in 1/3 atypical ossifying fibromyxoid tumours (AOFMTs) and in 3/10 (30%) malignant peripheral nerve sheath tumours (MPNSTs) of various types.																					
25651469	SMARCB1	underexpression; Loss of expression	Myoepithelial Carcinoma	All tested cases showed partial or complete SMARCB1 deletions (homozygous: 9 cases; heterozygous: 3 cases).																					
25602794	SMARCB1	Loss of expression	Epithelioid Malignant Peripheral Nerve Sheath Tumor	INI1 expression was lost in 67% of tumors examined (35/52).																					
25496315	SMARCB1	Loss of expression	Malignant Rhaboid Tumour	Complete loss of SMARCB1, SMARCA2 and PBRM1 expression and corresponding mutations in the same genes were observed in all cases.																					
25208989	SMARCB1	Loss of expression	Epithiloid Sarcoma	Loss of INI1 was demonstrated in 10 of the 13 classic ES cases and 5 of the 7 proximal-type ES cases.																					
25200863	SMARCB1	Loss of expression	Epithiloid Sarcoma	Of the 23 ES cases, 19 (82.6%) showed a loss of PBRM1, and 18 (78.3%), a loss of INI1.																					
25103069	SMARCB1	Loss of expression	Pancreatic Carcinoma	Nuclear SMARCB1 (INI1) expression was lost in 4 out of 14 cases (28%), representing all 4 tumors of the monomorphic anaplastic subtype.				KRAS	correlation	On the other hand, loss of SMARCB1 expression correlated with the absence of KRAS alterations (3 out of 5 cases; 60%).															
27356182	SMARCB1	Loss of expression; Mutation	Hepatoblastoma	All but 1 of the 23 tumors showed loss of INI1 protein expression by immunohistochemistry. Nineteen of the INI1 negative tumors were analyzed by FISH technique and all showed a deletion of the INI1/SMARCB1 gene (17 homozygous deletions, 2 heterozygous deletions).																					
24131748	SMARCB1	Underexpression	Synovial Sarcoma	Half of the monophasic synovial sarcomas expressed CK7, CK19 or panCK in a rare positive cells pattern, 8/9 (89%) expressed EMA, and all were SOX10 immunonegative with reduced but variable BAF47 expression.																					
24075062	SMARCB1	Loss of expression	Epitheloid Tumour; Extrarenal Rhaboid Tumour; Myoepithelial Tumour; Synovial Sarcoma	Out of 128 tumors, INI1/SMARCB1 staining was completely lacking in cases of ES (23/27) (85.1%), ERRTs (4/4) (100%), myoepithelial tumors (4/14) (28.5%) and in (1/16) (6.2%) cases of SS.																					
23348212	SMARCB1	Loss of expression	Renal Medullary Carcinoma	Absence of SMARCB1 protein expression in tumor cells was demonstrated in all of the 7 cases analyzed.																					
23060122	SMARCB1	Loss of expression	Epithiloid Sarcoma	These results confirm the high frequency of SMARCB1 deletions in epithelioid sarcoma and show that multiplex ligation-dependent probe amplification is a reliable method for detection of deletions in these cases, which can be performed on formalin-fixed, paraffin-embedded tissue.																					
22490415	SMARCB1	Underexpression	Gastric Carcinoma	INI1 expression levels were lower in gastric carcinoma compared with adjacent control normal tissues.																					
21613800	SMARCB1	Underexpression	Gastrointestinal Carcinoma	Immunohistochemically, the INI1 expression was focally reduced in 17/27 (63%) cases, and the INI1 protein level and INI1 mRNA level were each correlated with the presence of 22q11.23 LOH.																					
21108436	SMARCB1	Mutation	Rhaboid Tumours	Thirty-five of 100 patients were found to have a germline SMARCB1 abnormality. These abnormalities included point and frameshift mutations, intragenic deletions and duplications, and larger deletions including regions both proximal and distal to SMARCB1.																					
20932739	SMARCB1	Loss of expression	Epithiloid Sarcoma	We identified loss of SMARCB1 protein expression in the majority of ES cases (25/40, 62.5%), including 24/34 (71%) adult cases but only 1/6 (17%) paediatric/adolescent cases (p=0.02, two-tailed Fisher's exact test).																					
20305614	SMARCB1	Underexpression	Synovial Sarcoma	The results have shown that 66 of the 95 synovial sarcoma cases (69%) had reduced SMARCB1/INI1 protein expression, whereas the remaining 29 cases (31%) and all 30 spindle cell sarcomas showed preserved this protein expression.																					
27420608	MSH6	altered expression	Endometrial Carcinoma	Multivariate survival analysis revealed that MSH6 gene expression was associated with outcome of endometrial cancer patients independently from traditional prognostic clinicopathologic parameters, which was confirmed in an independent cohort at the protein level.																					
26371427	MSH6	Loss of expression	Gastric Carcinoma	Loss of MLH1 and/or PMS2 was found in 30 (88%) MSI-GC, 3 (9%) showed loss of MSH2 and/or MSH6.																					
26099011	MSH6	Loss of expression	Colorectal Carcinoma; Endometrial Carcinoma; Sebaceous Neoplasm	Heterogenous MSH6 loss was seen in colorectal carcinoma (n=18), endometrial carcinoma (n=3), and sebaceous neoplasm (n=1).																					
26027715	MSH6	SNP	Hepatocellular Carcinoma	Our study suggests that polymorphisms in MLH3 (rs175080), MSH3 (rs26279), MSH5 (rs2075789) and MSH6 (rs1042821) may be independent risk factors for PHC.																					
25503122	MSH6	Overexpression	Osteosarcoma	Significantly shorter survival times were associated with expression of MSH6, MSH2/6, as well as simultaneous non-response to chemotherapy and presence of metastasis.																					
24518125	MSH6	Loss of expression	Gastric Carcinoma; Colorectal Carcinoma	All gastric and colonic carcinomas were MSI-high and lost expressions of MLH1/PMS2 in 11 (73%) cases and MSH2/MSH6 in 4 (27%) cases.																					
23817394	MSH6	Mutation	Colorectal Carcinoma	Forty-three out of 298 cases of CRCs (14.4%) showed abnormal staining pattern for mismatch repair proteins with a majority (65.1%) showing single hMLH1 loss																					
23057844	MSH6	SNP	Gliomblastoma	Of the 74 GBM patients, 50% (n = 37) harbored MSH6 G268A polymorphism, and no significant rates of other SNP or gene mutation across MSH6 exons were detected.																					
22495361	MSH6	Mutation	Hereditary Nonpolyposis Colorectal Carcinoma	In 56 (7%) of 815 families, at least 1 MSH6 mutation, 23 definitively pathogenic mutations and 38 missense mutations or unclassified variants, and several polymorphisms in the MSH6 gene were detected.				pMSH6	correlation	In families carrying a pathogenic MSH6 mutation, 69.6% of 23 colon adenocarcinomas showed absence of pMSH6 in tumor tissue by immunohistochemical analysis.															
22456432	MSH6	Loss of expression	Small Intestinal Carcinoma	The loss of expression of hMLH1, hMSH2 and hMSH6 was identified in 25/193 (13.0%), 25/193 (13%) and 29/195 (15%), respectively.																					
21710692	MSH6	aberrant methylation	Ductal Invasive Carcinoma	Aberrant methylation in at least 50% of both the DCIS and adjacent IDC lesions was observed for PAX6, BRCA2, PAX5, WT1, CDH13 and MSH6.																					
21499234	MSH6	Loss of expression	Colorectal Carcinoma; Gynecologic Tract Carcinoma	Concurrent loss of MLH1 and PMS2 was the most common pattern of abnormal expression (50/432, 12%) followed by concurrent loss of MSH2 and MSH6 (33/432, 8%).																					
21425258	MSH6	Underexpression	Glioblastoma	However, recurrent glioblastomas demonstrated significantly lower MSH2, MSH6 and PMS2 protein expression as detected by immunohistochemistry.																					
21155762	MSH6	Mutation	Colorectal Carcinoma; Gastric Carcinoma	MSH6*c.3984_3987dupGTCA was found in 8/2685 CRC cases, 2/337 EnCa cases, and 1/3310 controls, consistent with a high risk of CRC (odds ratio (OR) = 9.9, 95% confidence interval (CI) = 1.2�?8.9, p = 0.0079) and a very high risk of EnCa (OR = 19.6, 95% CI = 1.8�?17.2, p = 0.0006).																					
20655395	MSH6	Loss of expression	Colorectal Carcinoma	Interestingly, only 38% of the MMR-deficient CRCs lost either MLH1 or MSH2, whereas 63% of the MMR-deficient CRC samples lost either PMS2 or MSH6.																					
20028567	MSH6	Mutation	Colorectal Carcinoma	Female MSH6 mutation carriers have a lower CRC risk and a higher risk for developing endometrial carcinoma.																					
26424307	MEN1	Mutation	Multiple Endocrine Neoplasia Type 1	Genetic testing revealed a novel missense mutation at codon 561 in exon 10, resulting in an amino acid substitution from methionine to arginine (M561R) in the MEN1 gene.																					
25350067	MEN1	Mutation	Multiple Endocrine Neoplasia Type 1	Germline mutations in MEN1 (encoding menin) result in multiple endocrine neoplasia type 1 and are found in very young patients with isolated sporadic pituitary adenomas, which highlights the importance of the chromosome 11q13 locus in pituitary tumorigenesis.																					
25210877	MEN1	Mutation	Pancreatic Neuroendocrine Tumour	MEN1 patients with MEN1 mutations leading to CHES1-LOI have a higher risk of malignant pNENs with an aggressive course of disease and disease-related death.																					
25034529	MEN1	Underexpression	Osteosarcoma	Here, our results show menin expression is significantly down-regulated in osteosarcoma tissues, compared with adjacent normal tissues.																					
24845612	MEN1	Overexpression	Hepatocellular Carcinoma	Importantly, Kaplan-Meier analysis reveals that 3-year overall and tumour-free survival rates are dramatically reduced in patients that simultaneously express EZH2 and menin, compared to rates in the EZH2 or menin under expressing patients.				EZH2	correlation	Importantly, Kaplan-Meier analysis reveals that 3-year overall and tumour-free survival rates are dramatically reduced in patients that simultaneously express EZH2 and menin, compared to rates in the EZH2 or menin under expressing patients.															
24276465	MEN1	Mutation; Underexpression	Lung Neuroendocrine Neuroplasms	MEN1 mutations were found in 7 of 55 (13%) carcinoids and in 1 HGNEC, mostly associated with loss of the second allele. MEN1 decreased expression levels correlated with the presence of mutations (P = .0060) and was also lower in HGNECs than carcinoids (P = .0024). Patients with carcinoids harboring MEN1 mutation and loss had shorter overall survival (P = .039 and P = .035, respectively) and low MEN1 mRNA levels correlated with distant metastasis (P = .00010) and shorter survival (P = .0071).																					
22825745	MEN1	Aberrant Expression	Sporadic Carcinoids	Menin was expressed in 71% of cases, with a prevalent cytoplasmic (c) localization, β-catenin was expressed in 68.4% of cases, of which 36.8% with a membranous (m) and 31.6% with a cytoplasmic localization.																					
22207168	MEN1	Mutation	Parathyroid Carcinoma	Genetic analysis revealed a novel germline mutation in the MEN1 gene - a nucleotide insertion at codon 43 in exon 2 (c.129insA), which caused the occurrence of the MEN1 syndrome.																					
22026581	MEN1	Mutation	Multiple Endocrine Neoplasia Type 1	A total of 79 different sporadic and familial cases with the MEN1 phenotype have been studied, in which 34 of them (48%) present a mutation in MEN1 gene.																					
21950691	MEN1	Mutation	Multiple Endocrine Neoplasia Type 1	The MEN1 mutation positive rate was 91·7% in familial cases and only 49·3% in sporadic cases. Eight novel mutations were identified.																					
21627674	MEN1	Mutation	Multiple Endocrine Neoplasia Type 1	LOH analysis indicated somatic deletion of maternal chromosome 11, including MEN1 locus (11q13) and 11p15 imprinting control regions (ICR). Although large MEN1 deletion causes MEN1, disruption of imprinted CDKN1C/p57KIP2 and IGF-2 gene expression may contribute to tumour progression and aggressive phenotype.																					
21464564	MEN1	Mutation	Multiple Endocrine Neoplasia Type 1	Menin gene sequencing revealed a novel frameshift mutation c.1642_1648dup in exon 10.																					
21454242	MEN1	Mutation	Multiple Endocrine Neoplasia Type 1	We report a novel disease-causing germline missense mutation in exon 2 of the MEN1 gene in a patient with MEN 1. The Arg52Gly mutation replaces the normal arginine residue (CGC) with a glycine residue (GGC) at position 52 of the resultant menin protein.																					
21069576	MEN1	Mutation	Multiple Endocrine Neoplasia Type 1	We describe a new mutation at codon 443 in the coding region of exon 9 in the MEN1 gene, where a cytosine residue was exchanged for adenosine (TCC > TAC) and, consequently, serine for tyrosine (p.Ser443Tyr; c.1328C > A).																					
20566584	MEN1	Aberrant Expression	Pancreatic Endocrine Tumour	Menin immunostaining showed strong nuclear and very faint cytoplasmic signal in normal islet cells, whereas it displayed abnormal location and expression levels in 80% of tumors.																					
20367983	MEN1	Mutation	Multiple Endocrine Neoplasia Type 1	In this family, a heterozygous cytosine insertion in exon 10 (c.1546_1547insC) inducing a frame shift mutation of MEN1 was found in the proband and the other two suffering members of his family. The mutation in exon 10 of MEN1 gene might induce development of parathyroid hyperplasia and pituitary adenoma and cosegregate with MEN1 syndrome.																					
27588397	MGMT	aberrant methylation	Glioblastoma	Patients with MGMT methylation in low risk group had longer survival than those in high risk group (median overall survival 1074 vs. 372 days; P = 0.0033).																					
27517619	MGMT	aberrant methylation	Testicular Germ Cell Tumour	The findings of this study indicate that methylation of MGMT and CALCA are frequent and could be used as new molecular markers of prognosis in TGCT.																					
27503138	MGMT	Aberrant Expression	Glioblastoma	A multivariate Cox regression model revealed that the interaction between TERT and MGMT was significant for OS (P=0.0064). Our findings suggest that a combination of IDH, TERT, and MGMT refines the classification of grade II-IV diffuse gliomas.				TERT	Interaction	A multivariate Cox regression model revealed that the interaction between TERT and MGMT was significant for OS (P = 0.0064).															
27353036	MGMT	aberrant methylation	Pancreatic Neuroendocrine Tumour	Low MGMT expression (�?0) was associated with radiological objective response (P=0.04) and better progression-free survival (PFS) (HR=0.35 (0.15-0.81), P=0.01). High MGMT promoter methylation was associated with a low MGMT expression and longer PFS (HR=0.37 (0.29-1.08), P=0.05).																					
27006309	MGMT	Underexpression	Signet Ring Cell Carcinoma	However, low MGMT expression levels were significantly more common in signet ring cell carcinomas (p = 0.011). In 111 of 385 cases, the overall concordance of MGMT status between primary tumor and metastatic sites was 66.67 % (κ = 0.271, p < 0.001).																					
27002765	MGMT	aberrant methylation	Bladder Carcinoma	Our data indicate that MGMT hypermethylation and BCL-2 overexpression may have an intense role in superficial bladder cancer recurrences.																					
26967246	MGMT	aberrant methylation	Glioma	MGMT methylation is a marker for poor prognosis in human glioma, while, MGMT methylation is a sensitive marker of glioma cells to alkylating agents.																					
26884942	MGMT	Overexpression	Glioblastoma	Interestingly, low expression of MGMT predicted a better outcome in proneurallike subtype or P53 high-expression group (p < 0.05) but not in non-proneural-like subtype and P53 low-expression group.																					
26753647	MGMT	altered expression	Glioma	The positive expression rate of MGMT was 37.5%, but there was no significant significance of MGMT expression between the high grade glioma and the low grade glioma (P < 0.05). The expressions of P53 and MGMT were negatively correlated (P < 0.05).																					
26617891	MGMT	hypermethylation	Lung Carcinoma	Our analysis indicates that MGMT promoter methylation in stage I-III or younger patients was significantly correlated with worse survival.																					
26261487	MGMT	Underexpression	Astrocytoma	The MGMT protein was downregulated in tumours with higher grade as evident by a reduction mean H-score for MGMT expression from GI to GIV [28.36 ± 43.88, 28.08 ± 33.67, 26.00 ± 48.70 and 16.20 ± 35.61].																					
26137013	MGMT	aberrant methylation	Glioblastoma	MGMT methylation was associated with significantly longer median survival (29.0 months) compared with patients without MGMT methylated tumors (12.0 months), as well as longer median time to progression following TMZ treatment (13.2 months, compared with 5.6 months for patients with an unmethylated MGMT status).																					
25820821	MGMT	Loss of expression	Breast Carcinoma	A significant correlation was seen between loss of MGMT and lymph node involvement (p=0.030), tumor grade (p<0.0001), loss of estrogen receptors (ER; p=0.021) and progesterone receptors (PR) (p=0.016).																					
25728117	MGMT	aberrant methylation	Oral Squamous Cell Carcinoma	We can conclude from our systematic review that a higher prevalence of methylation of P16, DAPK and MGMT occur in OSCC.																					
25716203	MGMT	hypermethylation	Colorectal Carcinoma	MGMT hypermethylation is found to be significantly higher in CRC than in normal colorectal mucosa, the pooled OR from 13 studies including 1085 CRC and 899 normal colorectal mucosa, OR=6.04, 95 % confidence interval (CI)=4.69-7.77, p<0.00001. MGMT hypermethylation is also significantly higher in colorectal adenoma than in normal colorectal mucosa, but it is significantly less compared to that in CRC patients.																					
25638164	MGMT	aberrant methylation	Colorectal Carcinoma	We also found a significant clustering (p = 0.001) of aberrant hypermethylation of MGMT and the matrix metalloproteinase gene ADAMTS14 in normal colonic mucosa of CRC patients.																					
25605197	MGMT	Mutation	Glioblastoma	The results indicate that glioblastomas with MGMT methylation or TP53 mutations have improved survival that may be influenced by IDH1 mutation status.																					
25596081	MGMT	hypermethylation	Colorectal Carcinoma	Further subgroup analysis showed that the frequency of MGMT methylation was significantly higher in CRC than in normal tissues (p<0.00001).																					
25579142	MGMT	hypermethylation	Ovarian Carcinoma	The methylation frequencies of the MGMT gene promoter were found to be 29.5, 28.6 and 20 per cent for EOC samples, LMP tumours and benign cases, respectively.																					
25567592	MGMT	altered expression	Astrocytoma	There is a correlation between IDH1 mutation and MGMT expression in WHO grade II to III astrocytoma.																					
25563195	MGMT	hypermethylation	Glioma	PSQ confirmed significantly higher methylation levels of MGMT and NDRG2 as compared with normal, non-cancerous brain tissue.																					
25520135	MGMT	aberrant methylation	Oesophagal Squamous Cell Carcinoma	Aberrant promoter methylation of the MGMT gene was detected in 70% of esophageal cancer cases.																					
25201059	MGMT	Loss of expression	Salivary Gland Carcinoma	MGMT loss was found in 39.2% of salivary gland carcinomas and was predominant in aggressive tumors (poorly differentiated, grade III, regional lymph node involved).																					
25130966	MGMT	hypermethylation	Non-Small Cell Lung Cancer	Mehtylation rate in MGMT gene promoter of cancer tissue in NSCLC patients was much higher than that in normal lung tissue and plasma, which showed a close association between NSCLC cancer and MGMT gene promoter methylation.																					
25015560	MGMT	Underexpression	Colorectal Adenocarcinoma	Low MGMT expression intensity was significantly correlated with shorter OS and was a prognostic factor independently of treatment and histopathological variables.																					
25008999	MGMT	hypermethylation; loss of expression	Gastric Carcinoma	Promoter hypermethylation of the MGMT gene was found in 52.44% (43 of 82) of the tumor samples and loss of MGMT protein expression was detected in 45.12% (37 of 82) of the tumor samples.																					
24938706	MGMT	hypermethylation	Gastric Carcinoma	Results showed that individuals with gastric cancer in the N1 and M1 stages had a significantly higher risk of DNA hypermethylation of MGMT in cancer tissues [odds ratio (OR) = 1.97, 95% confidence interval (CI) = 1.15-3.37 for the N1 stage; OR (95%CI) = 5.39 (2.08-14.98) for the M1 stage].																					
24790823	MGMT	Aberrant Expression; Underexpression	Bladder Carcinoma	Promoter hypermethylation was frequently observed in RASSF1A, APC and MGMT gene promoters (p-value<0.001). The RNA expression of RASSF1A, APC and MGMT was also found to be decreased in the muscle-invasive high grade bladder cancer when compared to the non muscle invasive low grade group (p-value<0.05).																					
24388682	MGMT	hypermethylation; Loss of expression	Thymic Carcinoma	MGMT methylation was significantly more frequent in thymic carcinoma than in thymoma (17/23, 74% versus 13/44, 29%; P<0.001). Loss of expression of MGMT protein was significantly more frequent in thymic carcinoma than in thymoma (20/23, 87% versus 10/44, 23%; P<0.0001).																					
24366688	MGMT	hypermethylation	Oesophagal Squamous Cell Carcinoma	Esophageal tumor tissues embraced statistically higher MGMT and hMSH2 promoter methylation level than normal tissue.																					
24086261	MGMT	aberrant methylation	Non-Small Cell Lung Cancer	This meta-analysis identified a strong association between methylation of MGMT gene and NSCLC.																					
23736022	MGMT	Underexpression	Glioma	The transcript abundance of MGMT and ERCC1 was significantly higher in normal brain tissues than in glioma tissues.																					
23705976	MGMT	hypermethylation	Colorectal Carcinoma	Finally, the mean of MGMT methylation levels was significantly higher in the cancerous group than in the control group (6.25±1.702 vs. 0.086±0.036, p<0.001).																					
23278137	MGMT	Underexpression	Oesophagal Squamous Cell Carcinoma	Significant association was observed between low MGMT expression and advanced clinical stage of OSCCs and lymph node metastasis (P = 0.03).																					
23269453	MGMT	Overexpression	Glioma	Age <50, 1p/19q co-deletion, IDH1/2 mutation, negative MGMT and EGFR expression were correlated with longer PFS and OS.																					
23244153	MGMT	hypermethylation	Oesophagal Squamous Cell Carcinoma	The proportions of DNA hypermethylation in P16, MGMT and hMLH1 in cancer tissues were significantly higher than in paracancerous normal tissue.																					
23010642	MGMT	hypermethylation	Colorectal Carcinoma	In addition, MGMT methylation was detected at a high frequency (68.3%). Methylation of the PCGT genes along with RASSF1A, APC, and MGMT can be potentially used as a new biomarker for the classification and prognosis of CRC tumors and independently of where the tumor has originated.																					
22481706	MGMT	Underexpression	Colorectal Carcinoma	Tissue expression of the MGMT gene in all patients was lower in tumor tissue when compared to normal tissue (p = 0.002).																					
22390413	MGMT	aberrant methylation	Glioblastoma	The average MGMT gene expression level was significantly lower in the group of patients with a methylated promoter independent of method used for methylation detection.																					
22359215	MGMT	aberrant methylation	Glioblastoma	Patients with tumors that harbored MGMT methylation had a significantly longer OS compared with patients who had wild-type MGMT (21.7 months vs 15.1 months; P = .025).																					
22206050	MGMT	aberrant methylation	Gastric Carcinoma	Of interest, methylation of MGMT, p16, RASSF2, hMLH1, HAND1, and FLNc was closely associated with poor survival in gastric cancer, particularly MGMT, p16, RASSF2 and FLNc.																					
22169480	MGMT	aberrant methylation	Non-Small Cell Lung Cancer	Aberrant methylation in CDH13 and MGMT was associated with clinicopathologic features of NSCLC.																					
22034964	MGMT	aberrant methylation	Glioblastoma	IDH mutation, MGMT promoter methylation, and 1p19q codeletion were associated with prolonged progression-free survival in univariate (P < 0.001, P < 0.001, P = 0.003, respectively) and multivariate analysis (P < 0.001, P < 0.001, P = 0.035, respectively).																					
22019339	MGMT	Underexpression	Breast Carcinoma	56 (93.3%) and 46 samples (76.6%) expressed lower levels of MGMT and PTEN mRNA, respectively, compared with normal breast (p<0.001). There was a positive correlation between the IHC results and the RT-PCR values for MGMT and PTEN.																					
21200087	MGMT	Overexpression	Thyroid Carcinoma	Expression of MGMT increased from the normal tissue (16.67%, 10/12), nodular goiter (25.00%, 2/8), Hashimoto's thyroiditis (60.00%, 9/15), and thyroid adenoma (52.38%, 11/21)to thyroid cancer (60.66%, 38/61). High expression of MGMT might be related to the malignancy of thyroid cancer, which may be one of the diagnosis indexes for thyroid cancer.																					
21029181	MGMT	Overexpression	Tongue Squamous Cell Carcinoma	MGMT expression was significantly associated with depth of invasion (P=0.0472), tumor shape (P=0.0187), perineural invasion (P=0.0115) and lymph node metastases (P=0.0032) and borderline with vascular invasion (P=0.0755).																					
20689651	MGMT	Underexpression	Ovarian Carcinoma	Ovarian cancer risk (odds ratios, ORs) was associated with low expression of all genes (2.95 [95% confidence interval (CI), 1.51 - 5.78] for BRCA1, 3.65 (95% CI, 1.82 - 7.30) for BRCA2, 5.25 (95% CI, 2.52 - 10.96) for hMLH1, and 4.72 (95% CI, 2.32 - 9.62) for MGMT) but not DNMT3B.																					
20674887	MGMT	hypermethylation	Oesophagal Squamous Cell Carcinoma	Aberrant promoter hypermethylation of CDH1 and MGMT genes were detected in 61.8% (47 of 76) and 73.7% (56 of 76) of the OSCC cases, respectively, with significant difference between cases and controls for MGMT (P=0.027). The mRNA expression level results showed statistically significant (P=0.03) differences between cases and healty controls for the MGMT gene.																					
20622963	MGMT	Underexpression; Loss of expression	Non-Small Cell Lung Cancer	Reduced or absent MGMT expression was found in 48 of 112 NSCLCs (43%), and significantly associated with nodal metastasis and squamous or undifferentiated cell types.				p53	Negative Correlation	Loss of MGMT expression is a relatively common event in NSCLCs and significantly associated with nodal metastasis and p53 overexpression, suggesting that it may play a major role in pulmonary carcinogenesis, and also in disease progression of NSCLCs.															
28124441	EED	copy number loss	Malignant Peripheral Nerve Sheath Tumors	EED biallelic alterations were detected in 2 of the other four MPNSTs, with one tumor having a homozygous EED deletion. Our study confirms the frequent biallelic inactivation of PRC2 subunits SUZ12 and EED in MPNSTs, and suggests the implication of KDM2B.																					
28586118	EYA4	hypermethylation	Urothelial Bladder Cancer	A panel of hypermethylated genes including APC, CSPG2, EPHA5, EYA4, HOXA9, IPF1, ISL1, JAK3, PITX2, SOX1, and TWIST1 predicted cancer-specific survival and SOX1 (HR = 3.46), PITX2 (HR = 4.17), CSPG2 (HR = 5.35), and JAK3 hypermethylation (HR = 0.19) did so independently.																					
28599470	FTO	Overexpression	Breast Carcinoma	The expression of FTO was significantly increased in MCF-7 and MDA-MB-231 cells compared with HCC1937 cells (P<0.01).																					
27997699	CHD4	Mutation	Endometrioid Endometrial Carcinoma	For the first time, we show that mutations in chromatin remodelling-related genes (KMT2D, KMT2C, SETD1B and BCOR) and in DNA-repair-related genes (BRCA1, BRCA2, RAD50 and CHD4) are frequent in this subtype of endometrial cancer.																					
28400267	CHD5	Aberrant Expression	Non-Small Cell Lung Cancer	CHD5 was down-regulated in 17 (39.5%) and up-regulated in 24 (55.8%) of tumor specimens.																					
27407094	DAXX	Loss of expression	Neuroendocrine Carcinoma	The prevalence of ALT and DAXX/ATRX loss in resected PanNETs was 31% and 26%, respectively, and associated with larger tumor size, higher WHO grade, lymph node metastasis, and distant metastasis (P < 0.001).																					
28123852	JMJD1C	Overexpression	Oesophagal Squamous Cell Carcinoma	In this study, we demonstrated that JMJD1C was upregulated in patient EC tissues and different EC cell lines. Furthermore, JMJD1C levels were positively correlated with the TNM stage.							YAP1	regulation	Taken together, our results demonstrated that JMJD1C controls the proliferation of EC via modulation of H3K9me2 activity, targeting the YAP1 gene expression and functions as a tumor suppressor in EC.												
28160558	PHF14	Overexpression	Lung Adenocarcinoma	In this study, we found that PHF14, a newly identified PHD finger protein, is highly expressed in lung cancer. The high expression level of PHF14 was associated with adenocarcinoma and poor survival in lung cancer patients.																					
28607325	PHF2	Underexpression	Renal Cell Carcinoma	High expression of PHF2 was significantly correlated with a low Fuhrman nuclear grade (p<.001), smaller tumor size (p<.001), low overall stage (p=.003), longer cancer-specific survival (p=.002), and progression-free survival (p<.001) of the patients. Our study showed that low expression of PHF2 is associated with aggressiveness and poor prognosis of CCRCC.																					
27407094	ATRX	Loss of expression	pancreatic neuroendocrine tumors	The prevalence of ALT and DAXX/ATRX loss in resected PanNETs was 31% and 26%, respectively, and associated with larger tumor size, higher WHO grade, lymph node metastasis, and distant metastasis (P < 0.001).																					
27132511	SETD7	Underexpression	Breast Carcinoma	SET9 expression levels were significantly higher in samples from patients with pathological complete remission than in samples from patients with disease recurrence, which indicates that SET9 acts as a tumor suppressor in breast cancer and that its expression may serve as a prognostic marker for malignancy.																					
27666771	DNMT3B	Overexpression	Colorectal Carcinoma	Significant upregulation of DNMT1, DNMT3A, and DNMT3B expression was found in para-carcinoma tissues, compared with the histopathologically unchanged tissues (P<0.05)																					
28236704	KDM4C	Overexpression	Lung Carcinoma	Furthermore, the expression of JMJD2C was found to be higher in metastatic lung cancer tissues than which in non-metastatic lung cancer tissues.																					
27282397	KDM5C	Mutation	Pineoblastoma	Genetic analysis of a pineoblastoma case identified somatic mutations of DICER1, ARID1A, and KDM5C genes.																					
26858085	KDM5C	Overexpression	Gastric Carcinoma	In present study, we found that KDM5C was overexpressed in gastric cancer cell lines and gastric cancer tissues but not in normal gastric tissues.																					
28521442	NCOR1	Underexpression	Gastric Carcinoma	Significantly decreased levels of STS, HSD3B1, ESR2, AR, NCOA1 and NCOR1 mRNA, in addition to significantly increased levels of CYP19A1 mRNA were demonstrated in tumoral tissue samples compared with adjacent healthy gastric tissue samples.																					
28394339	PCGF1	Overexpression	Glioma	Here, we found that nervous system polycomb 1 (NSPc1) was highly expressed in stem cell-like glioma cells (SLCs).							RDH16	Negative regulation	Furthermore, we identified that NSPc1 epigenetically repressed the expression of retinol dehydrogenase 16 (RDH16) by directly binding to a region upstream (-1073 to -823) of the RDH16 promoter.												
28251887	YEATS4	Overexpression	Gastric Carcinoma	YEATS4 was highly expressed in GC tissues and cell lines. Furthermore, Kaplan-Meier survival analysis and qRT-PCR analysis showed that the increased expression of YEATS4 indicated poor prognosis and tumor progression.																					
27834213	SMARCC1	mutation (loss of function)	Malignant Mesothelioma	Combined high-density aCGH and tNGS revealed biallelic gene inactivation in SETD2 (9 of 33, 27%), BAP1 (16 of 33, 48%), PBRM1 (5 of 33, 15%), and SMARCC1 (2 of 33, 6%).																					
27667360	SMC1A	Overexpression	Prostate Carcinoma	Additionally, we also found that the expression of SMC1A gene was higher in prostate cancer tissues than in the adjacent normal tissues by immunohistochemical staining, and was positively correlated to tumor metastasis and recurrence by Oncomine database mining.																					
28645312	PHF21B	Overexpression	Prostate Carcinoma	Our results revealed that PHF21B was markedly upregulated in prostate cancer cell lines and tissues. High PHF21B levels predicted poorer recurrence-free survival in prostate cancer patients.							SFRP1;  SFRP2.	Negative regulation	Furthermore, PHF21B suppressed repressors of the Wnt/β-catenin signaling cascade, including SFRP1 and SFRP2.												
27981551	HNF1A	Overexpression	Non-Small Cell Lung Cancer	The level of HNF1A-AS was higher in tumor tissues than that in normal tissues (p < 0.01). In addition, HNF1A-AS level was significantly associated with TNM stage (p = 0.002) and Lymph node metastasis (p = 0.005). Kaplan-Meier analysis indicated that a high level of HNF1A-AS expression predicted unfavorable overall survival (p < 0.001).																					
27855399	ATXN7	Underexpression	Hepatocellular Carcinoma	Furthermore, low expression of ATXN7 was significantly associated with poor recurrence-free survival (RFS) and OS (P = 0.007, HR = 2.38, 95% CI = 1.27-4.45 and P = 0.025, HR = 1.75, 95% CI = 1.18-2.62).																					
27666771	DNMT1	Overexpression	Colorectal Carcinoma	Significant upregulation of DNMT1, DNMT3A, and DNMT3B expression was found in para-carcinoma tissues, compared with the histopathologically unchanged tissues (P<0.05)																					
28454353	PRMT8	Overexpression	Breast Carcinoma; Ovarian Carcinoma; Cervical Carcinoma	High levels of PRMT8 expression in breast, ovarian and cervical cancer was observed. Additionally, in patients with breast and ovarian cancer, high PRMT8 expression was correlated with increased patient survival, whereas in gastric cancer, high PRMT8 expression was correlated with decreased patient survival.																					
28536297	RAD54L	Overexpression	Prostate Carcinoma	We found that castration-resistant prostate cancer (CRPC) cells showed increased expression of a set of HR-associated genes, including BRCA1, RAD54L, and RMI2																					
28342317	TCF20	Overexpression	Bladder Carcinoma	Kaplan-Meier analysis indicated that high AR1 mRNA expression �?5.47 is associated with statistically significant better recurrence-free survival (RFS) (P=.0007), progression-free survival (PFS) (P=.0420), and cancer-specific survival (CSS) (P=.0050).				KRT5	correlation	Spearman rank correlation revealed a significant positive association between mRNA expression of AR1 and KRT5 (rs: 0.3171, P<.0001) as well as a negative association with multifocal tumors (rs: 0.1478, P<.0109).															
27571988	TAF1L	Mutation	Colorectal Carcinoma; Gastric Carcinoma	In the present study, we found TAF1 frameshift mutations (3.8% of CRC with MSI-H) and TAF1L frameshift mutations (2.9% of GC and 3.8% of CRC with MSI-H).																					
28569784	HDAC3	Overexpression	Cholangiocarcinoma	Immunochemistry showed that HDAC3 was upregulated in CCA tissues compared with adjacent normal tissues, and this was correlated with reduced patient survival.																					
28004115	HDAC8	Overexpression	Oesophagal Squamous Cell Carcinoma	HDAC8 were overexpressed in OSCC tissues and OSCC cells, mainly localized in the cytoplasm.																					
27744626	PHF2	Mutation	Colorectal Carcinoma; Gastric Carcinoma	For this, we analyzed 124 colorectal cancers (CRCs) and 79 gastric (GCs) cancers for the mutations and their intratumoral heterogeneity (ITH). Twenty-two of 79 CRCs (27.8 %) and 7 of 34 GCs (20.6 %) harboring MSI-H exhibited frameshift mutations. Our data reveal that TSG gene PHF2 harbors mutational ITH as well as the frameshift mutations in CRC and GC with MSI-H. Based on this, it is suggested that frameshift mutations of PHF2 may play a role in tumorigenesis through its TSG inactivation in CRC and GC.																					
27164857	SETDB1	Overexpression	Hepatocellular Carcinoma	They identified SETDB1 as the most significantly up-regulated epigenetic regulator in human HCC. In their cohort SETDB1 overexpression was associated with metastasis formation and poorer prognosis of HCC patients.																					
28454326	TRIM24	Overexpression	Gastric Carcinoma	In the present study, it was found that TRIM24 was frequently overexpressed in GC cell lines and tissues compared with normal controls, as determined by western blotting and immunohistochemical staining. The high nuclear expression of TRIM24 was correlated with the depth of invasion (P=0.007), tumor-node-metastasis stage (P=0.005), and lymph node metastasis (P=0.027), and shorter overall survival rates (P=0.010) in patients with GC.																					
28337289	TRIM24	Overexpression	Cervical Carcinoma	In the present study, we showed that the expression of TRIM24 was markedly upregulated in cervical cancer cell lines and cancerous specimens at both transcriptional and translational levels. Statistical analysis suggested that TRIM24 expression was significantly correlated with clinical stage and (P=0.007) and lymphatic metastasis (P=0.001).																					
27638829	TRIM24	Overexpression	Breast Carcinoma	Our results demonstrated that TRIM24 expression is positively correlated with H3K23ac levels, and high levels of both TRIM24 and H3K23ac predict shorter overall survival of breast cancer patients.				H3K23ac	correlation	Our results demonstrated that TRIM24 expression is positively correlated with H3K23ac levels, and high levels of both TRIM24 and H3K23ac predict shorter overall survival of breast cancer patients.															
28484075	WDR5	Aberrant expression	Prostate Carcinoma	TWIST1 formed a complex with WDR5 and the lncRNA Hottip/HOTTIP, members of the MLL/COMPASS-like H3K4 methylases, which regulate chromatin in the Hox/HOX cluster during development. TWIST1 overexpression led to coenrichment of TWIST1 and WDR5 as well as increased H3K4me3 chromatin at the Hoxa9/HOXA9 promoter, which was dependent on WDR5.				TWIST1	Complex formation	TWIST1 formed a complex with WDR5 and the lncRNA Hottip/HOTTIP, members of the MLL/COMPASS-like H3K4 methylases, which regulate chromatin in the Hox/HOX cluster during development															
28300833	WDR5	Overexpression	Colorectal Carcinoma	We demonstrate that WDR5 is upregulated in CRC tissues and promotes CRC metastasis both in vitro and in vivo.				ZNF407	Binding	Moreover, WDR5 shows a direct binding to the ZNF407 promoter on regulating cellular EMT process, leading to CRC metastasis.															
28454449	TRIM28	Overexpression	Breast Carcinoma	In the present study, the expression of TRIM28 was identified to be significantly higher in cancerous compared with healthy tissue samples. Furthermore, it was demonstrated that TRIM28 expression was significantly correlated with several clinicopathological characteristics of patients with BC, such as p53 mutation, tumor recurrence and Elston grade of the tumor.																					
27845900	TRIM28	Overexpression	Breast Carcinoma	High level of TRIM28 is associated with triple-negative subtype of breast cancer (TNBC), which shows higher aggressiveness and lower survival rates.																					
27746184	SIRT6	Aberrant Expression	Breast Carcinoma	Nuclear expression of CSNK2A1 and SIRT6 predicted shorter overall survival and relapse-free survival by multivariate analysis.	CSNK2A1	regulation	In addition, CSNK2A1 was bound to SIRT6 and phosphorylated SIRT6; evidence for this is provided from immunofluorescence staining, co-immunoprecipitation of CSNK2A1 and SIRT6, a glutathione S-transferase pull-down assay, an invitro kinase assay, and transfection of mutant CSNK2A1.	β-catenin	Association	Especially, SIRT6 expression was associated with the nuclear localization of β-catenin															
27663587	DAXX	Loss of expression	Neuroendocrine Carcinoma	Similarly, tumors with loss of ATRX/DAXX expression were significantly associated with ALT (P < 0.001), aggressive clinical behavior, and reduced recurrence-free survival (P < 0.001).																					
27632941	KDM1A	Overexpression	Glioma	Furthermore, USP7 and LSD1 expression levels were higher in the 150 glioma patients than these levels in normal brain tissues and were correlated with glioma progression.				USP7	correlation	LSD1 was increased concurrently with USP7 during glioblastoma progression and both were predictors for worsened prognosis.															
27212032	KDM1A	Overexpression	Breast Carcinoma	Protein expression of HDAC5 and LSD1 was significantly increased in primary breast cancer specimens in comparison with matched-normal adjacent tissues.																					
28401022	IDH2	Overexpression	Oesophagal Squamous Cell Carcinoma	The protein expression level of IDH2 was significantly upregulated in ESCC tissues (IHC, Western blotting, all P<0.001) despite no significant difference at mRNA expression level (P>0.05).																					
27458708	IDH2	Mutation	Acute Myeloid Leukemia	Overall, somatic mutations in TET2, IDH1, IDH2, WT1 and DNMT3A were common in our cohort of AML cases.																					
28383547	EHMT2	Overexpression	Non-Small Cell Lung Cancer	Here, we found that G9A (known as EHMT2), a histone methyltransferase responsible for mono- or di-methylation of histone 3 (H3) lysine 9 (K9), is significantly upregulated in NSCLC.							CASP1	Negative regulation	Furthermore, G9A exerts these functions by repressing CASP1 expression.												
28265008	EHMT2	Overexpression	Head and Neck Squamous Cell Carcinoma	In this study, we found that high G9a expression is significantly associated with poor chemotherapeutic response and disease-free survival in HNSCC patients.				GCLC	Positive correlation	In addition, we observed a significant positive correlation between G9a and GCLC expression in tumors of HNSCC patients.															
27748874	EHMT2	Overexpression	Glioma	The positive rate of G9a in glioma tissues was 86% (43/50), which was significantly different from 42% (21/50) in adjacent tissues (P<0.01). High expression of G9a and H3K9me2 in glioma tissue samples was associated with the WHO grade, which indicated that G9a and H3K9me2 may promote generation and development of glioma.																					
28656307	SIRT6	Underexpression	Gastric Carcinoma	In this study, we found that SIRT6 expression level was decreased in gastric cancer tissues and cell lines. Decreased SIRT6 expression was associated with unfavorable clinical parameters including tumor differentiation, tumor size and TNM stage.																					
28653878	SIRT6	Overexpression	Oesophagal Squamous Cell Carcinoma	In the study, data from quantitative reverse transcriptase polymerase chain reaction-based assays and immunohistochemical assays revealed that sirtuin 6 was remarkably overexpressed in esophageal squamous tumor tissues.				ULK1	Interaction	In addition, results from western blotting assays and immunoprecipitation assays displayed that sirtuin 6 specifically interacted with ULK1 and positively regulated its activity by inhibiting its upstream factor mammalian target of rapamycin activity.															
28393212	SIRT6	Overexpression	Thyroid Carcinoma	SIRT6 mRNA and protein levels were upregulated in PTC tumor tissues and its overexpression was an independent biomarker for nodal metastasis (odds ratio=1.794, 95% confidence interval: 1.2561.920, p=0.012). SIRT6 expression was related to poor recurrencefree survival, however, not significantly.																					
27824900	SIRT6	Overexpression	Hepatocellular Carcinoma	SIRT6 expression was significantly higher in HCC cell lines and HCC tissues from 138 patients than in an immortalized hepatocyte cell line, THLE-2 and non-tumor tissues, respectively.																					
27470916	ASXL1	Mutation	Acute Myeloid Leukemia	Furthermore, targeted deep sequencing in 182 paediatric AML patients identified three major categories of recurrently mutated genes: cohesion complex genes [STAG2, RAD21 and SMC3 in 17 patients (8·3%)], epigenetic regulators [ASXL1/ASXL2 in 17 patients (8·3%), BCOR/BCORL1 in 7 patients (3·4%)] and signalling molecules.																					
27640403	ASXL1	Mutation	Chronic Myeloid Leukemia	Mutations in the ASXL1 gene were found in five out of 66 CML patients (7.6%).																					
27895765	CHD5	Underexpression (hypermethylation)	Breast Carcinoma	CHD5 expression was significantly suppressed in breast cancer tissues compared with normal breast tissues when analyzed by RT-PCR. Furthermore, DNA methylation of CHD5 was more prevalent in breast tumors than in normal tissues. Thus, downregulation of CHD5, mediated by abnormal methylation, may contribute to the development and progression of breast cancer.																					
28291122	SMARCB1	Loss of expression	Sinonasal Carcinoma	Immunohistochemical loss of SMARCB1 (INI1) expression was confirmed for all 39 tumors.																					
28220037	DNMT3B	Overexpression	Endometrial Carcinoma	There were a 61.7% (95/154) overexpression of DNMT3B, 50.0% (77/154) loss of PTEN expression and 18.2% (28/154) loss of hMLH1 expression. DNMT3B expression was statistically significant based on the grade of endometrial carcinomas (p=0.031).																					
28069330	HELLS	Overexpression	Renal Cell Carcinoma	High mRNA levels of TOP2A, HELLS, ATAD2, and TET3 are independent predictors of poor outcome in RCC patients and may be used for individual risk-adapted therapy in the future.																					
28038711	SMARCA4	Loss of Expression	Pulmonary Squamous Cell Carcinoma	Complete loss of SMARCA4 was observed in 8 (5.5%) of 146 evaluable pulmonary ADCAs and 6 (5.2%) of 115 evaluable pulmonary SCCs, whereas 9 (6.4%) of 140 ADCAs and 2 (1.7%) of 117 SCCs showed SMARCA2 loss.																					
27852072	SMARCA4	Overexpression	Colon Carcinoma	In the clinical analysis, overexpression of BRG1 correlates with colon cancer progression in two cohorts (n = 191 and n = 75). Kaplan-Meier survival analysis revealed that BRG1 is a prognosis predictor for overall survival (P < 0.001) and disease-free survival (P = 0.001).																					
27764136	SMARCA4	Loss of Expression	Renal Cell Carcinoma	We found that 49/160 (31%), 81/160 (51%), 23/160 (14%), 24/160 (15%), and 61/160 (38%) of ccRCC showed loss of expression of PBRM1, ARID1A, SETD2, BRG1, and BRM, respectively, and that IHC could successfully detect a high prevalence of ITH.																					
27843326	KMT2A	Overexpression	Cervical Carcinoma	We report here that MLL1 is overexpressed in cervical carcinoma tissues and cell lines, and its overexpression is correlated with the tumor grade.																					
27984237	SMARCA1	Loss of expression	Renal Cell Carcinoma	Variable loss of at least 1 SWI/SNF complex subunit was noted in the undifferentiated/rhabdoid component of 21/32 cases (65%) compared with intact or reduced expression in the differentiated component.																					
28551630	EP300	Overexpression	Renal Cell Carcinoma	Levels of EP300, TP53 and BAX transcripts were found increased in tumor tissues.																					
28070138	SIRT1	Overexpression	Gastric Carcinoma	High Beclin-1 and SIRT1 expression alone and their combined high expression predicted shorter overall survival and relapse-free survival.				Beclin-1	correlation	High Beclin-1 and SIRT1 expression alone and their combined high expression predicted shorter overall survival and relapse-free survival.															
28061480	SIRT1	Overexpression	Gastric Carcinoma	Our results revealed upregulated expression of SIRT1 in all stages of gastric cancer compared with noncancerous gastric mucosa, suggesting that high SIRT1 levels are likely involved in establishing gastric neoplasticity.				STAT3	correlation	Moreover, co-ordinated high expression of SIRT1 and STAT3 predicted poor overall survival for advanced gastric cancer patients.															
27793057	SIRT1	Overexpression	Thyroid Carcinoma	Compared to normal thyroid tissue, thyroid tumors had lower expression of HIC1 and higher SIRT1 expression.																					
27793039	SIRT1	Overexpression	Osteosarcoma	The SIRT1 protein was significantly upregulated in most primary osteosarcoma tumours, compared with normal tissues, and the SIRT1 expression level may be coupled with metastatic risk in patients with osteosarcoma.																					
27768839	SIRT1	Overexpression	Non-Small Cell Lung Cancer	MRNA level of SIRT1 was upregulated in NSCLC tissues as compared to normal tissues (3.18±0.77 vs. 1.27±0.62; P=.001).																					
26862948	SIRT1	Overexpression	Ovarian Carcinoma	However, elevated SIRT1 expression was a significant predictor of shorter survival in univariate (P=0.038) and multivariate (P=0.037) survival analyses, regardless of the tumor stage. Results of the present study suggest a positive role for SIRT1 in the development of OvCa and its potential as a novel therapeutic target.																					
27655638	IDH1	Underexpression	Gastrointestinal Carcinoma	Our data indicate that IDH1-R132H expression could be used as a predictive marker of prognosis for patients with gastrointestinal cancer.Patients with low IDH1-R132H expression had a poor overall survival.				R132H	correlation	Patients with low IDH1-R132H expression had a poor overall survival.															
28260718	SETD2	Underexpression	Renal Cell Carcinoma	Both SETD2 and H3K36me3 were heterogeneously stained and down-regulated in ccRCC tissues, compared with normal controls. In addition, cox multivariate analysis identified low SETD2 protein expression as an independent prognostic factor for overall survival of ccRCC patients.																					
28652820	DNMT1	Overexpression	Colon Carcinoma	The expression of DNMT1 was significantly higher in CC cells compared to that in the normal cervical epithelium.																					
28069330	TET3	Overexpression	Renal Cell Carcinoma	High mRNA levels of TOP2A, HELLS, ATAD2, and TET3 are independent predictors of poor outcome in RCC patients and may be used for individual risk-adapted therapy in the future.																					
26966018	DNMT1	Overexpression	Oesophagal Squamous Cell Carcinoma	DNMT1 overexpression was significantly associated with the overall survival, p = 0.029, and relapse-free survival of OSCC patients, p = 0.003. Patients with DNMT1 overexpression, as an independent prognostic factor, had a 2.385 times higher risk to relapse than those with lower expression.																					
27599551	SIRT7	Overexpression	Non-Small Cell Lung Carcinoma	Results showed that SIRT7 was highly expressed in NSCLC cell lines, as detected by real-time quantitative polymerase chain reaction and western blot analysis.	miR-3666	negative regulation	Bioinformatics algorithms indicated that SIRT7 was a putative target of microRNA-3666 (miR-3666). Dual-luciferase reporter assay demonstrated that miR-3666 could target the 3'-untranslated region of SIRT7. Western blot analysis revealed that miR-3666 could regulate the protein expression of SIRT7.						
27080717	SIRT7	Overexpression	Breast Carcinoma	Although SIRT6 and SIRT7 were also up-regulated in breast cancer tissues, these expression changes were statistically insignificant.									
26704017	SIRT7	Underexpression	Hepatocellular Carcinoma	Western blots showed that SIRT7 was efficiently expressed in liver cells where C/EBPs were non-visible. In contrast to the relatively high level of C/EBPα or C/EBPβ in the hepatocellular carcinoma cell lines, SIRT7 expression was, for the most, at a limited trace amount, if any.	C/EBPα; HDAC3	negative regulation	To our knowledge, this is the first report on the regulation mechanism of SIRT7 gene, in which, HDAC3 collaborated with C/EBPα to occupy its responding element in the upstream region of SIRT7 gene and repressed its expression in human cells.						
26701732	SIRT7	Overexpression	Endometrial Carcinoma	Compared to NNE, ECs showed SIRT7 (p < 0.001) mRNA overexpression, whereas SIRT1 (p < 0.001), SIRT2 (p < 0.001), SIRT4 (p < 0.001) and SIRT5 (p < 0.001) were underexpressed.									
26121130	SIRT7	Underexpression	Pancreatic Carcinoma	Low levels of nuclear SIRT7 expression were also associated with an aggressive tumour phenotype and poorer outcome, as measured by disease-free and disease-specific survival time, 12 months post-diagnosis. Our data suggests that SIRT3 and SIRT7 possess tumour suppressor properties in the context of pancreatic cancer.									
25973086	SIRT7	Overexpression	Breast Carcinoma	Upregulation of Sirt7 was found in breast cancer cell lines and breast cancer tissues (P < 0.001) by western blot analysis. Sirt7 was highly expressed in breast cancer tissue samples (67.8%) compared to adjacent normal breast tissues (31.8%) by immunohistochemical assay.									
25922576	SIRT7	Overexpression	Breast Carcinoma	Stratification of patients into groups according to metastatic stages indicated statistically significantly higher levels of SirT7 mRNA in CS-I, CS-II, and CS-III when compared to normal breast tissue (P < 0.05).									
25922576	SIRT7	Underexpression	Thyroid Gland Carcinoma	Additionally, there were significantly lower SirT7 mRNA levels in thyroid carcinoma when compared to their corresponding normal tissue (P < 0.05).									
25921180	SIRT7	Overexpression	Ovarian Carcinoma	SIRT7 demonstrated a higher level in ovarian cancer cell lines compared with normal cells.									
25860861	SIRT7	Overexpression	Gastric Carcinoma	Here we report that Sirt7, a NAD(+)-dependent class III histone deacetylase, is over-expressed in human gastric cancer tissues.							miR-34a	negative regulation	Mechanically, Sirt7 binds to the promoter of miR-34a and deacetylases the H3K18ac, thus represses miR-34a expression.
25794641	SIRT7	Overexpression	Cervical Carcinoma	In conclusion, we report the overexpression of SIRT2 and SIRT7 proteins in cervical cancer and suggest probable application of sirtuin inhibitors as therapeutic targets.									
25503141	SIRT7	Overexpression	Head and Neck Squamous Cell Carcinoma	In the cancer group, the expression level of SIRT1 was down-regulated (p<0.05); in contrast, SIRT6 and SIRT7 were significantly up-regulated (p<0.001).									
24771643	SIRT7	Overexpression	Colorectal Carcinoma	The Sirt7 protein level significantly correlated with tumor stage (P = 0.029), lymph node metastasis (P = 0.046), and poor patient survival (P < 0.05).							p-ERK; p-MEK	Positive regulation	Moreover, Sirt7 enhanced MAPK pathway activity concomitantly with p-ERK and p-MEK upregulation.
24396870	SIRT7	Overexpression	Bladder Carcinoma	These data suggest that hsa-miR-125b suppresses bladder cancer development via inhibiting SIRT7 and MALAT1.	miR-125b	negative regulation	These data suggest that hsa-miR-125b suppresses bladder cancer development via inhibiting SIRT7 and MALAT1.						
23475622	SIRT7	Underexpression	Head and Neck Squamous Cell Carcinoma	Our results demonstrated that the expression levels of SIRT1, SIRT2, SIRT3, SIRT5, SIRT6, and SIRT7 were significantly downregulated in cancerous tissues compared with noncancerous tissues (all p<0.01).									
23079745	SIRT7	Overexpression	Hepatocellular Carcinoma	In this study we show that SIRT7 expression was up-regulated in a large cohort of human hepatocellular carcinoma (HCC) patients.	miR-125a-5p; miR-125b	negative regulation	A regulatory loop is proposed whereby SIRT7 inhibits transcriptional activation of p21(WAF1/Cip1) by way of repression of miR-125a-5p and miR-125b.				p21	negative regulation	A regulatory loop is proposed whereby SIRT7 inhibits transcriptional activation of p21(WAF1/Cip1) by way of repression of miR-125a-5p and miR-125b.
17003781	SIRT7	Overexpression	Breast Carcinoma	Levels of SIRT7 expression were significantly increased in breast cancer (P<0.0001).									
25593028	HDAC11	Underexpression	Uveal Melanoma	In the validation set, significantly lower levels of KAT2B (P = 0.008), HDAC11 (P = 0.009), KMT1C (P = 0.05), KDM4B (P = 0.003), KDM6B (P = 0.04), and BMI-1 (P = 0.001) transcripts were found in tumors with M3/class 2.									
24131581	HDAC11	aberrant methylation	Balkan Endemic Nephropathy	We then compared the DMRs between all patient-control pairs to determine common changes in the epigenetic profiles.SEC61G, IL17RA, HDAC11 proved to be differently methylated throughout all patient-control pairs.									
23024001	HDAC11	Overexpression	Colorectal Carcinoma	Here we report that HDAC11, the most recently identified zinc-dependent HDAC, is overexpressed in several carcinomas as compared to corresponding healthy tissues. HDAC11 depletion is sufficient to cause cell death and to inhibit metabolic activity in HCT-116 colon, PC-3 prostate, MCF-7 breast and SK-OV-3 ovarian cancer cell lines.									
23024001	HDAC11	Overexpression	Prostate Carcinoma	Here we report that HDAC11, the most recently identified zinc-dependent HDAC, is overexpressed in several carcinomas as compared to corresponding healthy tissues. HDAC11 depletion is sufficient to cause cell death and to inhibit metabolic activity in HCT-116 colon, PC-3 prostate, MCF-7 breast and SK-OV-3 ovarian cancer cell lines.									
23024001	HDAC11	Overexpression	Breast Carcinoma	Here we report that HDAC11, the most recently identified zinc-dependent HDAC, is overexpressed in several carcinomas as compared to corresponding healthy tissues. HDAC11 depletion is sufficient to cause cell death and to inhibit metabolic activity in HCT-116 colon, PC-3 prostate, MCF-7 breast and SK-OV-3 ovarian cancer cell lines.									
23024001	HDAC11	Overexpression	Ovarian Carcinoma	Here we report that HDAC11, the most recently identified zinc-dependent HDAC, is overexpressed in several carcinomas as compared to corresponding healthy tissues. HDAC11 depletion is sufficient to cause cell death and to inhibit metabolic activity in HCT-116 colon, PC-3 prostate, MCF-7 breast and SK-OV-3 ovarian cancer cell lines.									
21806350	HDAC11	Overexpression	Philadelphia-negative chronic myeloproliferative neoplasms	Using global gene expression profiling of whole blood from patients with CMPNs, we have found a pronounced deregulation of HDAC genes, involving significant up-regulation of the HDAC genes 9 and 11, with the highest expression levels being found in patients with ET (HDAC9 and 11), PMF (HDAC9) and CMPNs (both HDAC9 and HDAC11).									
27565322	ATAD2	Overexpression	Colorectal Carcinoma	ATPase family AAA domain-containing protein 2 (ATAD2), a member of ATPase family, is highly expressed in various cancers, including colorectal cancer. Our results suggest that silencing of ATAD2 inhibits migration and invasion of colorectal cancer cells by suppressing EMT and decreasing the activity of MMPs.									
27239961	ATAD2	Overexpression	Hepatocellular Carcinoma	In the present study, we found that ANCCA/PRO2000 overexpression in HCC specimens correlated with aggressive tumor behavior and poor survival.	miR-372	negative regulation	Additional research identified that miR-372, as a prognostic factor for HCC, could directly target ANCCA/PRO2000.				miR-520a	negative regulation	Mechanistically, ANCCA/PRO2000 not only interacts with E2F2 but also negatively regulates miR-520a that inhibits E2F2 to cooperatively promote in vitro and in vivo growth of HCC cells.
27131099	ATAD2	Overexpression	Squamous Cell Lung Carcinoma	ANCCA mRNA and protein expression are increased in SCLC tissues and cell lines.									
26819280	ATAD2	Overexpression	Colorectal Carcinoma	ATAD2 overexpression is associated with progression and prognosis in colorectal cancer.									
26697062	ATAD2	Overexpression	Colorectal Carcinoma	The results showed that high expression of ATAD2 was significantly correlated with tumor size (P < 0.001), serum CEA (P = 0.012), lymph node metastasis (P = 0.018), liver metastasis (P = 0.025), and clinical stage (P = 0.004).									
26527032	ATAD2	Overexpression	Gastric Carcinoma	In our results, ATAD2 mRNA and protein were highly expressed in gastric cancer samples. ATAD2 overexpression was correlated with advanced clinical stage, tumor depth, lymph node metastasis, and distant metastasis.									
26497681	ATAD2	Overexpression	Hepatocellular Carcinoma	We demonstrated that ATAD2 was over-expressed in HCC patients, where high ATAD2 levels were significantly correlated with aggressive phenotypes such as high AFP levels, advanced tumor stages, and vascular invasion.				MKK3/6	interaction	In HCC cells, we demonstrated that ATAD2 directly interacted with MKK3/6, which prevented p38 activation and therefore inhibited p38-mediated apoptosis.	p53/p38	negative regulation	Suppression of ATAD2 inhibits hepatocellular carcinoma progression through activation of p53- and p38-mediated apoptotic signaling.
26308378	ATAD2	Overexpression	Endometrial Carcinoma	ATAD2 overexpression links to enrichment of B-MYB-translational signatures and development of aggressive endometrial carcinoma.							B-MYB;  CDCs; E2Fs		Gene expression alterations in samples with high ATAD2 expression revealed upregulation of several cancer-related genes (B-MYB, CDCs, E2Fs) and gene sets that previously have been linked to aggressive disease and potential for new targeting therapies.
25934333	ATAD2	Overexpression	Endometrial Carcinoma	Overexpression of ANCCA/ATAD2 in endometrial carcinoma and its correlation with tumor progression and poor prognosis.									
25813398	ATAD2	Overexpression	Cervical Carcinoma	ATAD2 was shown to be highly expressed in cervical cancer tissues, both at the transcriptional and protein levels, and was correlated with poor patient survival (P<0.05).									
24805933	ATAD2	Overexpression	Hepatocellular Carcinoma	We found that ATAD2 is highly expressed in HCC tissues, compared with adjacent normal tissues, and patients with high expression of ATAD2 had a poorer prognosis.				MYC	cooperation	We speculate that ATAD2 cooperates with the MYC gene to regulate the expression of SMO and Gli, activating the Hh pathway and inducing an active feedback of the Hh pathway.	SMO; Gli	Regulation	We speculate that ATAD2 cooperates with the MYC gene to regulate the expression of SMO and Gli, activating the Hh pathway and inducing an active feedback of the Hh pathway.
24761900	ATAD2	Overexpression	Ovarian Carcinoma	ATAD2 was shown to be highly expressed in 65.5% (72/110) of ovarian cancer cases, both at transcriptional and protein levels.									
24708861	ATAD2	Overexpression	Hepatocellular Carcinoma	PRO2000/ANCCA expression was associated with clinicopathological features such as histological differentiation, number of tumor nodules, TNM stage, tumor microsatellite, portal vein tumor thrombus and recurrence, but not with gender, age, tumor size, cirrhosis, HBV infection and serum fetoprotein (AFP) level.									
24552534	ATAD2	Overexpression	Hepatocellular Carcinoma	ATAD2 was highly expressed in liver cancer samples and correlated with poor survival.	miR-372	negative regulation	The findings demonstrated that miR-372 suppressed the expression of ATAD2, which was highly expressed in HCC and exerted a proto-oncogene effect in hepatic carcinogenesis.				APC; CTNNA1	Negatively regulation; Positively regulation	In addition, ATAD2 knockdown was found to extremely up-regulate APC expression and down-regulate CTNNA1 at the mRNA level.
24489661	ATAD2	Overexpression (Copy number gain)	Breast Carcinoma	Frequently amplified and overexpressed genes included ATAD2, BRAF, DERL1, DNMTRB and NEK2A.									
23784380	ATAD2	Overexpression (Copy number gain)	Breast Carcinoma	Genomic studies of FC-IBC02 and other IBC cell lines showed that IBC cells had important amplification of 8q24 where MYC, ATAD2 and the focal adhesion kinase FAK1 are located.									
23393560	ATAD2	Overexpression (Copy number gain)	Endometrial Carcinoma	Integrated genomic analysis of the 8q24 amplification in endometrial cancers identifies ATAD2 as essential to MYC-dependent cancers.									
23038103	ATAD2	Overexpression	Prostate Carcinoma	EZH2 and ANCCA are androgen regulated and strongly expressed in early prostate morphogenesis and during puberty, suggesting their important role in prostate development.									
23033341	ATAD2	Overexpression (Copy number gain)	Lung Carcinoma	A number of epigenetic regulators, including KDM6A, ASH1L, SMARCA4, and ATAD2, are frequently altered by mutations or copy number changes.									
20864510	ATAD2	Overexpression	Breast Carcinoma	ANCCA/ATAD2 overexpression identifies breast cancer patients with poor prognosis, acting to drive proliferation and survival of triple-negative cells through control of B-Myb and EZH2.							B-Myb; EZH2	Regulation	ANCCA/ATAD2 overexpression identifies breast cancer patients with poor prognosis, acting to drive proliferation and survival of triple-negative cells through control of B-Myb and EZH2.
19843847	ATAD2	Overexpression (Copy number gain)	Breast Carcinoma	Consistent with this, we show that ATAD2 expression is high in several human tumors and that the expression levels correlate with clinical outcome of breast cancer patients.				MYC	binding	We show that ATAD2 binds the MYC oncogene and stimulates its transcriptional activity.			
27658300	DNMT1	Overexpression	Cervical Carcinoma	Therefore, we infer that miR-375 is downregulated partly due to promoter hypermethylation mediated by DNMT1 in HPV-16 positive cervical cancer cells.							miR-375	Negative regulation	Therefore, we infer that miR-375 is downregulated partly due to promoter hypermethylation mediated by DNMT1 in HPV-16 positive cervical cancer cells.
27651312	DNMT1		Gastric Carcinoma					PRC2; LSD1; HOXA11-AS	binding	LncRNA HOXA11-AS promotes proliferation and invasion of gastric cancer by scaffolding the chromatin modification factors PRC2, LSD1 and DNMT1.			
27543768	DNMT1	Overexpression	Medulloblastoma	In conclusion, DNMT1, DNMT3A and DNMT3B are highly expressed in human medulloblastoma samples, suggesting that promoter hypermethylation may play a role in medulloblastoma development.									
27261509	DNMT1	Overexpression	Pancreatic Carcinoma	Mechanistically, CSC expressed higher DNMT1 levels than non-CSC.							miR-17-92 Cluster	Negative regulation	DNMT1 Inhibition Reprograms Pancreatic Cancer Stem Cells via Upregulation of the miR-17-92 Cluster.
27259275	DNMT1	Overexpression	Acute Myeloid Leukemia	In support of these results, we demonstrate that combining GO-203 with the DNMT1 inhibitor decitabine is highly effective in reducing DNMT1 levels and decreasing AML cell survival.	MUC1-C	Positive regulation	The mechanistic basis for this relationship is supported by the demonstration that MUC1-C activates the NF-κB p65 pathway, promotes occupancy of the MUC1-C/NF-κB complex on the DNMT1 promoter and drives DNMT1 transcription.						
27212035	DNMT1		Breast Carcinoma		MUC1-C	Positive regulation	Our results demonstrate that MUC1-C induces the expression of DNMT1 and DNMT3b, but not DNMT3a, in breast and other carcinoma cell types.						
27071379	DNMT1	Overexpression	Breast Carcinoma	High tumor expression of DNMT1 was associated with shorter OS in univariate analysis (p = 0.041).									
27022290	DNMT1		Breast Carcinoma		TP53	Negative regulation	In conclusion, the data from this preliminary study have shown that p53 inhibits the methylation of p125 gene promoter by downregulating the activities of Sp1 and DNMT1 in breast cancer.				p125	Positive regulation	In conclusion, the data from this preliminary study have shown that p53 inhibits the methylation of p125 gene promoter by downregulating the activities of Sp1 and DNMT1 in breast cancer.
26998112	DNMT1	Overexpression	Breast Carcinoma	The results of the present study revealed that DNMT1 protein and mRNA levels were low in normal breast specimens (10.00 and 46.05%, respectively) and ERα-positive breast cancer specimens (15.00 and 48.68%, respectively), compared with increased levels in ERα-negative breast cancer specimens (81.11 and 88.89%, respectively; P<0.05).							ERα	Negative regulation	DNMT1 expression was positively correlated with methylation of ERα (P<0.05), and was positively correlated with the methylation of CpG islands of ERα, indicating that the detection of DNMT1 expression may be significant for the diagnosis and typing of breast cancer.
26966018	DNMT1	Overexpression	Oral Cavity Squamous Cell Carcinoma	DNMT1, DNMT3A, and DNMT3B were overexpressed in 36.9, 26, and 23% of the OSCC patients, respectively. DNMT1 overexpression was significantly associated with the overall survival, p=0.029, and relapse-free survival of OSCC patients, p=0.003.									
26708868	DNMT1	Overexpression	Chronic myeloid leukemia	The expression of DNMT mRNA increases in advanced CML as compared with normal controls and CML-CP, and the increased levels of DNMT mRNA probably correlate with disease progression in CML.									
26676363	DNMT1		Glioma								MEG3	Negative regulation	These results suggest that DNMT1-mediated MEG3 hypermethylation caused the loss of MEG3 expression, followed by the inhibition of the p53 pathways in gliomas.
26261487	DNMT1	Overexpression	Astrocytic tumour	Our data showed that DNMT1 was highly expressed in high grade astrocytic tumours.				MGMT	negtive correlation	DNMT1 overexpression was seen correlated with a reduction of MGMT protein expression in high grade astrocytic tumour.			
26162541	DNMT1	SNP	Breast Carcinoma	This is the first study to demonstrate a significant association between TNBC risk and the polymorphisms of EZH2 and DNMT1, and our researches indicate that the SNPs of EZH2 and DNMT1 are risk predictors for TNBC.									
25950085	DNMT1	Overexpression	Pancreatic Carcinoma	We discovered the expression level of miR-148a significantly decreased in pancreatic cancer tissues whereas that of DNMT1 increased.	miR-148a	Negative regulation	In ASPC-1 cancer cells, the overexpression of miR-148a led to a decreased level of DNMT1 and reduced the proliferation and metastasis of ASPC-1 cells.						
25927928	DNMT1		Non-Small Cell Lung Carcinoma		miR-148b	Negative regulation	miR-148b reverses cisplatin-resistance in non-small cell cancer cells via negatively regulating DNMT1 expression.						
25886188	DNMT1	Overexpression	Esophageal Squamous Cell Carcinoma	DNMT1 proteins are highly expressed in cancer tissues							RASSF1A	Negative regulation	Methylation of RASSF1A gene promoter and the correlation with DNMT1 expression that may contribute to esophageal squamous cell carcinoma.
25746661	DNMT1	Overexpression	Burkitt Lymphoma	Here, we demonstrated for the first time the overexpression of DNMT1 and DNMT3B in Burkitt lymphoma (BL) tumor samples (69% and 86%, respectively).									
25738352	DNMT1	Overexpression	Prostate Carcinoma	Due to the high expression of DNMT1 mRNA, it is likely that the hypermethylation of CpG islands contributed to the silencing of GSTP1 and APC in PCa tissues.							GSTP1; APC	negative regulation	Due to the high expression of DNMT1 mRNA, it is likely that the hypermethylation of CpG islands contributed to the silencing of GSTP1 and APC in PCa tissues.
25595591	DNMT1		Gastric Carcinoma; Glioblastoma								microRNA-200b/a/429	Negative regulation	Collectively, these results indicated that EZH2 and DNMT1-mediated epigenetic silencing contributed to the progression of gastric cancer and glioblastoma, and therefore represents a novel therapeutic target for malignant tumors.
25461380	DNMT1	Overexpression	Gastric Carcinoma	We found that DNMT1 and 3b were up-regulated in gastric cancer and were detected in 51.1% and 57.4% of cases, respectively.									
25349215	DNMT1	Overexpression	Urological cancer	DNMT1 abundance has been frequently seen in urogenital system tumors.	β-catenin	Positive regulation	mRNA levels of β-catenin increased after treatment with SB216273 and protein levels of pGSK3β(Ser9), β-catenin, and DNMT1 increased in comparison to control.						
25232208	DNMT1	Overexpression	Clear Cell Renal Cell Carcinoma	We found DNMT1 protein was significantly higher expressed in ccRCC than that of in no-tumor tissues (56.2% and 27.3%, respectively, P=0.018).									
24911372	DNMT1		Hepatocellular Carcinoma		miR-185	Negative regulation	miR-185 inhibits hepatocellular carcinoma growth by targeting the DNMT1/PTEN/Akt pathway.						
24762689	DNMT1	Overexpression	Non-Small Cell Lung Carcinoma	The protein expressions of HDAC1 and DNMT1 in patients with lung cancer (145 ± 53, 50 ± 11) were higher than those in control group (78 ± 56, 27 ± 6).									
24649186	DNMT1	Overexpression (Copy number gain)	Endometrial Carcinoma	In conclusion, overexpression of DNMT1 protein is caused by various factors, one of which is gene amplification.									
24548441	DNMT1	Overexpression	Lung Carcinoma	The protein expressions of DNMT1, DNMT3a and DNMT3b in patients with lung cancer (15 ± 10, 997 ± 76 , 302 ± 25) were higher than those of the controls (13 ± 10, 344 ± 93, 108 ± 22).									
24423239	DNMT1	Overexpression	Pancreatic Carcinoma	DNMT1, 3a and 3b proteins were expressed in 46.6%, 23.9%, and 77.3% of PDAC tissues, respectively, but were not expressed in normal pancreatic tissues.									
24247422	DNMT1		Hepatocellular Carcinoma		HBx	Positive regulation	Upregulation of DNMT1 mediated by HBx suppresses RASSF1A expression independent of DNA methylation.				RASSF1A	Negative regulation	Upregulation of DNMT1 mediated by HBx suppresses RASSF1A expression independent of DNA methylation.
23918933	DNMT1		Nijmegen breakage syndrome		NBS1		These results suggest that DNMT1 function in the regulatory response is controlled by NBS1.						
23420051	DNMT1	Overexpression	Ovarian Carcinoma	The results indicated that the mRNA expression of DNMT1, DNMT3b and class I HDACs was increased in ovarian cancers, while the expression of DNMT3a was not different between cancer tissues and normal ovaries.									
23408490	DNMT1	Overexpression	Gastric Carcinoma	In the present study we demonstrated that the expression levels of CDX2 and DNA methyltransferase enzyme 1 (DNMT1) mRNA were significantly higher in GC compared with distal non-cancerous tissue.				CDX2	negtive correlation	The expression of CDX2 mRNA was inversely correlated with that of DNMT1 mRNA in GC.			
22901195	DNMT1	Overexpression	Esophageal Squamous Cell Carcinoma	We found that DNMT1 was overexpressed in ESCC tissues compared with paired non-cancerous tissues, the overexpression being correlated with smoking status and low expression of RARβ.									
17657744	DNMT1	Overexpression	Colorectal Carcinoma	The mRNA levels of SUV39H1 and DNMT1 were elevated in 25% and 42% of 219 colorectal cancers, respectively.									
27019369	EP300	aberrant expression	Skin Squamous Cell Carcinoma	High nuclear expression of p300 (>60% of positive cells) (p=0.001) and absent cytoplasmic expression (p=0.026) were more frequent in SCC compared to AK and BD, respectively.									
26934656	EP300		Prostate Carcinoma								PASN	Positive regulation	Here, we demonstrated that P300 binds to and increases histone H3 lysine 27 acetylation (H3K27Ac) in the FASN gene promoter.
26476216	EP300	Overexpression	Breast Carcinoma	The transcriptional coactivator p300 is highly expressed in breast cancer tissues.									
25364581	EP300	Underexpression	Myeloid Leukemia	The expression levels of BMPR2, EP300, and TNFAIP3 mRNA in cell lines from myeloid leukemia were significantly lower than those in the cells from the healthy control (P<0.05).									
25240203	EP300	Overexpression	Breast Carcinoma	Moreover, the analysis of p300 expression in human BC samples showed that p300 immunoreactivity is significantly higher in the cancerous tissues than in the non-malignant mammary tissues and in the histologically normal adjacent tissues.									
24975674	EP300	Overexpression	Skin Squamous Cell Carcinoma	High expression of p300 was observed in 86 of 165 (52·1%) of the cSCC samples and six of 30 (20%) of the adjacent normal skin tissue samples (P<0·001).									
24893747	EP300		Melanoma					Braf	correlation	Our results demonstrate that Braf expression is inversely correlated with nuclear p300 and positively correlated with cytoplasmic p300 expression.			
24530506	EP300	Underexpression	Lung Carcinoma	In this study, we found that p300 was highly phosphorylated and its level was decreased during mitosis and tumorigenesis.									
24529102	EP300	Mutation	Diffuse Large B-Cell Lymphoma	The high prevalence of p300 mutations in DLBCL suggests that HAT-deficient p300 activity defines a subtype of DLBCL, which we have investigated using human DLBCL cell lines RC-K8 and SUDHL2.									
24480624	EP300	Overexpression	Prostate Carcinoma	Overexpression of the histone acetyltransferase p300 is implicated in the proliferation and progression of prostate cancer, but evidence of a causal role is lacking.									
24142575	EP300	Overexpression	Colorectal Carcinoma	The overexpression of p300 may be an independent favorable prognostic factor for disease-free survival in patients with colorectal cancer.									
22647238	EP300	Overexpression	Nasopharyngeal Carcinoma	High expression of p300 is linked to aggressive features and poor prognosis of nasopharyngeal carcinoma.									
23467396	EP300	Overexpression	Breast Carcinoma	High expression of p300 could be observed in 105/193 (54.4%) of BCs, in 6/25 (24.0%) of non-malignant breast tissues, respectively (P=0.004).									
21764211	EP300	Overexpression	Hepatocellular Carcinoma	We found p300 is highly expressed in 47% of surgically resected HCC specimens by immunohistochemistry, which correlated with advanced TNM staging (P = 0.034), vascular invasion (P = 0.036), intrahepatic metastasis (P = 0.001) and shortened overall survival (P = 0.028).							E-cadherin; beta-catenin; cyclin D1	Negative regulation; Positive regulation; Positive regulation	In vitro study, knocking down of p300 expression in hepatoma cells recovered E-cadherin expression, inhibited the translocation of beta (β)-catenin into the nuclei, decreased cyclin D1 activity and suppressed the migration/invasion of HCC cells.
21524463	EP300	Overexpression	Esophageal Squamous Cell Carcinoma	The expression frequency and expression levels of p300 were significantly higher in ESCC specimens (62.5%, 150 of 240) than in normal esophageal mucosa (8.9%, 5 of 56; p<0.001).									
21205329	EP300	Overexpression	Hepatocellular Carcinoma	Up-regulated expression of p300 mRNA and protein was observed in the majority of HCCs by RT-PCR and Western blotting, when compared with their adjacent non-malignant liver tissues.									
20859991	EP300	Overexpression	Prostate Carcinoma	Steroid receptor coactivators p300 and CBP are highly expressed in advanced prostate cancer.							ER-β	Positive regulation	p300 or CBP enhanced activation of ER-β by genistein.
18778367	EP300		Acute Myeloid Leukemia					MLL	Fusion	A complex t(1;22;11)(q44;q13;q23) translocation causing MLL-p300 fusion gene in therapy-related acute myeloid leukemia.			
18459105	EP300	Overexpression	Prostate Carcinoma	p300 expression in high grade tumors (Gleason score >or=7) was significantly higher compared to low grade tumors (Gleason score <7) [17.7% versus 13.7%, respectively, P = 0.03].									
27706111	EZH2	Overexpression	Colorectal Carcinoma	In this study, mRNA and protein expression of EZH2 in four CRC cell lines were tested at first and RKO and HCT116 cells showed the highest levels among them.							autophagy; and apoptosis	Negative regulation	Meanwhile, downregulation of EZH2 in CRC cells induces autophagy and apoptosis.
27697098	EZH2	Overexpression	Cervical Carcinoma	Overexpression of EZH2 was found in 30 patients (76.9%) and was associated with FIGO stage, histological type, and lymph node metastasis (P<0.05).									
27630289	EZH2	SNP	Bladder Carcinoma	Three polymorphic variants of EZH2 were analyzed regarding their association with bladder cancer risk, and three hundred and seventy-five patients with bladder cancer and same number of age- and gender-matched healthy controls recruited were genotyped by the PCR-RFLP method.									
27622325	EZH2		Gastric Carcinoma		MicroRNA-126	Negative regulation	Mechanistically, Enhancer of Zeste Homolog 2 (EZH2) was identified as a direct target of miR-126.						
27620004	EZH2		Gastric Carcinoma		MicroRNA-101	Negative regulation	Long non-coding RNA XIST regulates gastric cancer progression by acting as a molecular sponge of miR-101 to modulate EZH2 expression.						
27502594	EZH2	Overexpression	Canine mammary carcinoma	Investigation of the expression of EZH2 in canine mammary tumors revealed that EZH2 protein was overexpressed in canine mammary carcinomas, as in human breast cancer.									
27494834	EZH2		Breast Carcinoma		GSK3β	regulation	Our study indicated that GSK3β phosphorylates EZH2 at Ser363 and Thr367, resulting in reduced H3K27 trimethylation and biological activity of EZH2 in breast cancer.						
27472460	EZH2	Overexpression	Non-Small Cell Lung Carcinoma	In non-small cell lung cancer (NSCLC) cells and primary lung tumors, we found that PRC2 components, including EZH2, are overexpressed.							PUMA	Negative regulation	This is achieved through EZH2 directly binds to the Puma promoter thus epigenetic repression of PUMA expression.
27471434	EZH2	Overexpression	Pediatric soft tissue sarcoma	High EZH2 expression is correlated to metastatic disease in pediatric soft tissue sarcomas.									
27446358	EZH2	Overexpression	Laryngeal squamous cell carcinoma	In the present study, the level of EZH2 expression in laryngeal squamous cell carcinomas was evaluated using immunochemical staining and reverse transcription-quantitative polymerase chain reaction.									
27436059	EZH2		Breast Carcinoma								RASSF2A	Negative regulation	Here, we showed that the downregulation of EZH2 reduces CpG island methylation of the RASSF2A promoter, thereby leading to increased RASSF2A expression.
27300769	EZH2	Overexpression	Bladder Carcinoma	EZH2 is overexpressed in bladder cancer (BC) and plays important roles in tumor development and progression.									
27259264	EZH2		Glioblastoma								EAF2-HIF1α signaling	Positive regulation	We conclude from these results that EZH2 promotes tumorigenesis and malignant progression in part by activating glycolysis through an EAF2-HIF1α signaling axis.
27223261	EZH2	Overexpression	Osteosarcoma	Results showed that higher expression of EZH2 was significantly associated with more aggressive tumor behavior and poor patient outcomes of osteosarcoma.									
27207647	EZH2		Hepatocellular Carcinoma								CLDN14	Negative regulation	These results, collectively, uncover that CLDN14 is a novel direct target of EZH2-mediated H3K27ME3, and provide an explanation for the aggressive nature of HCC with downregulation of CLDN14 and the underling mechanism that links the tumor suppressor CLDN14 to the wnt/β-catenin signaling pathway.
27191993	EZH2	Overexpression	Chronic lymphocytic leukemia	In conclusion, EZH2 is overexpressed in adverse-prognosis CLL and associated with increased cell survival and proliferation.									
27169594	EZH2	mutation (loss of function)	Acute lymphoblastic leukemia	Loss-of-function EZH2 mutations were detected in 2/152 (1.3%) patients with common-ALL and early T-cell precursor (ETP)-ALL, respectively.									
26848980	EZH2	Overexpression	Pancreatic Carcinoma	We found that EZH2 expression is up-regulated in pancreatic cancer tissues and positively correlated with lymph node metastasis and advanced clinical stage in pancreatic cancer patients.									
26676756	EZH2		Lung Carcinoma		KRAS signaling	Positive regulation	Our work defines EZH2 as a downstream effector of KRAS signaling and offers a rationale for combining EZH2 inhibitory strategies with MEK-ERK- or PI3K/AKT-targeted therapies to treat lung cancer patients, as stratified into distinct treatment groups based on specific KRAS mutations.						
24345883	EZH2	Overexpression	Tongue Carcinoma	We found that aberrantly overexpressed EZH2 was associated with pathological grade, cervical nodes metastasis and Ki-67 expression in tongue cancers.									
24335192	EZH2	Overexpression	Ovarian Carcinoma	Aberrant overexpression of the enhancer of zeste homolog 2 (EZH2), a histone methyltransferase inhibiting targets expression via epigenetic mechanisms, is associated with an invasive phenotype and drug resistance in ovarian cancer.							BRCA1	Regulation	In the present study, we found depletion of EZH2 increased BRCA1 protein expression and promoted its nuclear translocation, but decreased BRCA1 mRNA expression.
24294976	EZH2	Overexpression	Breast Carcinoma	The results showed that EZH2 is expressed at higher levels in human IBC cell lines compared with normal human mammary epithelial cells, and the knockdown of EZH2 expression significantly suppressed cell growth and tumor spheroid formation of human IBC cells in vitro.									
24211739	EZH2		Hepatocellular Carcinoma		MicroRNA-101	Negative regulation	MicroRNA-101 inhibits human hepatocellular carcinoma progression through EZH2 downregulation and increased cytostatic drug sensitivity.						
24139839	EZH2	Overexpression	Glioma	Both Bmi1 and EZH2 expressions in glioma tissues were significantly higher than those in corresponding nonneoplastic brain tissues (both P<0.001).									
24132643	EZH2	Overexpression	Malignant Peripheral Nerve Sheath Tumor	Up-regulated EZH2 in MPNST inhibits miR-30d transcription via promoter binding activity, leading to enhanced expression of the nuclear transport receptor KPNB1 that is inhibited by miR-30d targeting of KPNB1 3' UTR region.							miR-30d	Negative regulation	Up-regulated EZH2 in MPNST inhibits miR-30d transcription via promoter binding activity, leading to enhanced expression of the nuclear transport receptor KPNB1 that is inhibited by miR-30d targeting of KPNB1 3' UTR region.
24132606	EZH2	Overexpression	Non-Small Cell Lung Carcinoma	Here, we showed that EZH2 was up-regulated in lung cancer and had a positive correlation with pathologic stage, nodal involvement in lung cancer patients.							TIMP-3	Negative regulation	EZH2 regulates cancer cell migration through repressing TIMP-3 in non-small cell lung cancer.
23874688	EZH2		Nasopharyngeal Carcinoma					GSK3β	correlation	We found that expression of EZH2 correlated with phosphorylated GSK3β (p-GSK3β) at Ser 9 (an inactivated form of GSK3β) in human nasopharyngeal carcinoma (NPC) samples.			
22977606	EZH2	Overexpression	Lung Carcinoma	In this study, the expression of miR-101 was down-regulated and the expression of EZH2 was up-regulated in lung cancer.	miR-101	Negative regulation	Enhancer of zeste homolog 2 (EZH2) is the target of miR-101 and a member of the polycomb repressive complex 2, which is involved in the methylation of histone H3 at lysine 27 (H3K27).						
22972404	EZH2		Nasopharyngeal Carcinoma		Let-7a	Negative regulation	Let-7a inhibits proliferation and induces apoptosis by targeting EZH2 in nasopharyngeal carcinoma cells.						
22622284	EZH2	Overexpression	Pancreatic Ductal Adenocarcinoma	Pancreatic ductal adenocarcinoma (PDAC) is characterized by overexpression of enhancer of Zeste homolog-2 (EZH2), which plays a pivotal role in cancer stem cell (CSC) self-renewal through methylation of histone H3 lysine-27 (H3K27me3).									
21719208	EZH2	Overexpression	Gallbladder Adenocarcinoma	Overexpression of EZH2 and loss of expression of PTEN is associated with invasion, metastasis, and poor progression of gallbladder adenocarcinoma.									
21368858	EZH2		Nasopharyngeal Carcinoma		miR-26a; miR-101; miR-98	negative regulation	Enhancer of Zeste homolog 2 (EZH2) is overexpressed in recurrent nasopharyngeal carcinoma and is regulated by miR-26a, miR-101, and miR-98.						
18806826	EZH2		Breast Carcinoma; Prostate Carcinoma								E-cadherin	Negative regulation	Here, we demonstrate that EZH2 mediates transcriptional silencing of the tumor suppressor gene E-cadherin by trimethylation of H3 lysine 27.
27033599	HDAC9	Overexpression	Retinoblastoma	In this study, we found that HDAC9 was commonly expressed in retinoblastoma tissues and HDAC9 was overexpressed in prognostically poor retinoblastoma patients.									
25760078	HDAC9	Overexpression	Glioblastoma	We found that HDAC9 is over-expressed in prognostically poor glioblastoma patients.									
24913006	HDAC9	Overexpression	Rhabdoid cancer	In primary BRM-deficient Rhabdoid tumors, HDAC9 was also found to be highly overexpressed.									
20413433	HDAC9	Overexpression	Medulloblastoma	HDAC5 and HDAC9 are significantly upregulated in high-risk medulloblastoma in comparison with low-risk medulloblastoma, and their expression is associated with poor survival.									
22922871	ARID1A	Mutation	Hepatitis B Virus-Related Hepatocellular Carcinoma	Notably, ARID1A, which encodes a component of the SWI/SNF chromatin remodeling complex, was mutated in 14 of 110 (13%) HBV-associated HCC specimens.									
22915242	ARID1A	Loss of expression	Gastric Carcinoma	Taken together, loss of ARID1A may be an early change in carcinogenesis and may precede EBV infection in gastric epithelial cells, while loss of ARID1A promotes cancer progression in gastric cancer cells without EBV infection or loss of MLH1 expression.									
22888282	ARID1A	genetic alteration	Endometrioid Carcinoma	They are typified by high frequency genomic alterations affecting PIK3CA, PIK3R1, PTEN, KRAS, FGFR2, ARID1A (BAF250a), and CTNNB1 (β-catenin), as well as epigenetic silencing of MLH1 resulting in microsatellite instability.									
22810696	ARID1A	Mutation	Colon Carcinoma; Rectal Carcinoma	Twenty-four genes were significantly mutated, and in addition to the expected APC, TP53, SMAD4, PIK3CA and KRAS mutations, we found frequent mutations in ARID1A, SOX9 and FAM123B.									
22808142	ARID1A	Loss of expression	Gastric Carcinoma	Consistent with these results, we found that loss of ARID1A expression was significantly correlated with poor survival in gastric cancer patients (P = 0.003). Silencing ARID1A expression in gastric epithelial cell line significantly enhanced cell growth rate.									
22653804	ARID1A	Mutation	Endometrioid Carcinoma of Endometrium	The molecular profile of carcinosarcomas suggests two distinct mutation profiles for these tumours: endometrioid-type (PTEN, PIK3CA, ARID1A, KRAS mutations) and serous-type (TP53 and PPP2R1A mutations).									
22653341	ARID1A	Mutation (loss of function); Loss of expression	Endometrioid Carcinoma; Clear Cell Carcinoma	The loss of expression of ARID1A and the presence of inactivating mutations of the ARID1A gene further link this tumor to endometrioid and clear cell tumors, as does the frequent association with endometriosis.									
22634756	ARID1A	Mutation	Hepatocellular Carcinoma	Multiple chromatin regulators, including ARID1A, ARID1B, ARID2, MLL and MLL3, were mutated in 50% of the tumors.									
22585168	ARID1A	Mutation	Follicular Lymphoma	Six additional mutations were present in only one follicular lymphoma and not the donor lymphocyte infusion, including an ARID1A premature stop, indicating later acquisition during clonal divergence.									
22561517	ARID1A	genetic alteration	Hepatocellular Carcinoma	We found new recurrent alterations in four genes (ARID1A, RPS6KA3, NFE2L2 and IRF2) not previously described in HCC									
22530740	ARID1A	altered expression	Ovarian Endometriosis	Aberrant expression of ARID1A, PIK3CA, and NF-kB genes has been recognized as the major target genes involved in oxidative stress-induced carcinogenesis.									
22525820	ARID1A	Mutation	Ovarian Clear Cell Tumor	Ovarian CCC tends to present at earlier stages and has been associated with endometriosis, ARID1A and PIK3CA mutations.									
22484628	ARID1A	Mutation	Gastric Adenocarcinoma; Gastric Carcinoma	Frequently mutated genes in the adenocarcinomas included TP53 (11/15 tumors), PIK3CA (3/15) and ARID1A (3/15).; Frequent mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) also occurred in 47% of the gastric cancers.; Somatic inactivation of FAT4 and ARID1A may thus be key tumorigenic events in a subset of gastric cancers.				PIK3CA; microsatellite	Co-existing mutation; instability	We detected ARID1A mutations in 8% of tumors (9/110), which were associated with concurrent PIK3CA mutations and microsatellite instability.			
22408686	ARID1A	Mutation	Ovarian Clear Cell Tumor	ARID1A (the expression of whose product, BAF250a, a key complex component, is lost when mutated) has recently been identified as a tumor suppressor gene that is mutated in 46-57% of ovarian clear cell carcinoma (CCC).									
22363625	ARID1A	Mutation	Ovarian carcinoma; Endometrial carcinoma	These findings also suggest that the tumor-suppressor activity of BRG1 is restricted to the basal cells of the mammary gland and demonstrate that this function extends to other female reproductive organs, consistent with recent observations of recurrent ARID1A/BAF250a mutations in human ovarian and endometrial tumors.									
22304686	ARID1A	Mutation	Ovarian Carcinoma	Each histological type has a distinct molecular profile with mutations of genes involved in different signalling transduction pathways, such as KRAS, BRAF, CTNNB1, PTEN, PIK3CA and ARID1A.									
22301703	ARID1A	Mutation	Ovarian Clear Cell Tumor; Endometrioid Carcinoma	ARID1A mutations are particularly frequent in endometriosis-associated ovarian clear cell and endometrioid carcinomas, and were recently described as a possible key mechanism and early step in the transformation of endometriosis into cancer.									
22274316	ARID1A	Loss of expression	Cervical Adenocarcinoma; Cervical Adenosquamous Carcinoma	In conclusion, this study provides the first evidence of the frequent loss of ARID1A protein expression in cervical adenocarcinomas/adenosquamous carcinomas.									
22233809	ARID1A	Mutation	Pancreatic Carcinoma	Notable among the alterations newly identified, genomic deletions, mutations, and rearrangements recurrently targeted genes encoding components of the SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeling complex, including all three putative DNA binding subunits (ARID1A, ARID1B, and PBRM1) and both enzymatic subunits (SMARCA2 and SMARCA4).									
22193641	ARID1A	Mutation (loss of function)	Ovarian Clear Cell Tumor; Ovarian Endometrioid Tumor	Inactivating somatic mutations in the ARID1A gene are described in a significant fraction of clear cell and endometrioid ovarian cancers leading to loss of the corresponding protein (BAF250a).									
22157930	ARID1A	Loss of expression	Ovarian Clear Cell Tumor	Loss of ARID1A protein expression occurs as an early event in ovarian clear-cell carcinoma development and frequently coexists with PIK3CA mutations.				PIK3CA	co-existing mutation	These results suggest that loss of ARID1A protein expression occurs as a very early event in ovarian clear-cell carcinoma development, similar to the pattern of PIK3CA mutation recently reported by our group, and frequently coexists (not mutually exclusive) with PIK3CA mutations.			
22120431	ARID1A	Mutation; Loss of expression	Ovarian Clear Cell Adenocarcinoma	PIK3CA mutations and loss of ARID1A protein expression are early events in the development of cystic ovarian clear cell adenocarcinoma.; Somatic mutations of PIK3CA and ARID1A are the most common genetic alterations observed in ovarian clear cell adenocarcinomas (CCA).									
22101352	ARID1A	Loss of expression	Ovarian Clear Cell Tumor	Loss of ARID1A expression was identified in 9 (15.0%) of 60 ovarian clear cell carcinoma samples.									
22037554	ARID1A	Mutation	Gastric Carcinoma	Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer.				TP53	mutually exclusive mutation	The mutation spectrum for ARID1A differs between molecular subtypes of gastric cancer, and mutation prevalence is negatively associated with mutations in TP53.			
22032835	ARID1A	Mutation	Endometrioid Carcinoma; Clear Cell Carcinoma	Endometriosis is characterized by genetic instability: like neoplasms endometriosis seems to be monoclonal in origin, several studies have documented loss of heterozygosity (LOH) in endometriosis, data suggest that mutation of the tumor suppressor gene PTEN play a part in the malignant transformation of endometriosis, some studies have revealed TP53 mutations in endometriotic lesions, and mutation of ARID1A seems to be an important early event in the malignant transformation of endometriosis to endometrioid and clear cell carcinomas.									
22009941	ARID1A	Mutation	Ovarian Clear Cell carcinoma	Mutations in the chromatin remodeling gene ARID1A have recently been identified in the majority of ovarian clear cell carcinomas (OCCCs).									
20972461	IDH2	Mutation	Glioma	Soon, it became clear that the mutations identified impaired the ability of IDH1 and IDH2 to catalyze the conversion of isocitrate to α-ketoglutarate (αKG), whereas conferring a gain of a novel enzymatic activity leading to the reduction of αKG to the metabolite D2-hydroxyglutarate (D-2HG). Across glioma as well as several hematologic malignancies, mutations in IDH1 and IDH2 have shown prognostic value.							α-ketoglutarate; D2HG	regulation	Soon, it became clear that the mutations identified impaired the ability of IDH1 and IDH2 to catalyze the conversion of isocitrate to α-ketoglutarate (αKG), whereas conferring a gain of a novel enzymatic activity leading to the reduction of αKG to the metabolite D2-hydroxyglutarate (D-2HG).
21892209	ARID1A	Mutation	Breast Carcinoma	We identified ARID1A as a target of NMD in the T47D breast cancer cell line, likely as a consequence of a mutation in exon-9, which introduces a premature stop codon at position Q944.; These results suggest that ARID1A may be a candidate TSG in breast cancer.									
21889920	ARID1A	Underexpression	Ductal Breast Carcinoma	These data suggest that low ARID1A expression is frequent in breast cancers, and we need to investigate further the role of ARID1A and SWI/SNF complexes in breast tumorigenesis, especially in triple-negative breast cancer.									
21822268	ARID1A	genetic aberration	Bladder Transitional Cell Carcinoma	Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC.									
21809064	ARID1A	Mutation	Ovarian Clear Cell Tumor; Endometrioid Carcinoma	Mutational analysis of ovarian clear cell carcinomas, endometrioid carcinomas and endometriotic lesions identified mutations in the ARID1A gene as common and early genetic changes in carcinomas with associated endometriosis and in atypical endometriosis itself.									
21683865	ARID1A	Mutation	low-grade Ovarian Serous Carcinoma; low-grade Endometrioid Carcinoma; Ovarian Clear Cell Tumor; Ovarian Mucinous Carcinoma; Brenner Tumor	They are generally indolent, present in stage I (tumor confined to the ovary), and are characterized by specific mutations, including KRAS, BRAF, ERBB2, CTNNB1, PTEN, PIK3CA, ARID1A, and PPP2R1A, which target specific cell signaling pathways.									
21412932	ARID1A	Loss of expression (copy number loss)	Pancreatic Adenocarcinoma	Using both visual inspection and GISTIC analysis, recurrent losses were observed on 1p, 3p, 4p, 6, 8p, 9, 10, 11q, 15q, 17, 18, 19p, 20p, 21, and 22 and comprised several known or suspected tumor suppressor genes such as ARHGEF10, ARID1A, CDKN2A/B, FHIT, PTEN, RB1, RUNX1-3, SMAD4, STK11/LKB1, TP53, and TUSC3.; Heterozygous deletion of the 1p35-p36 chromosomal region was identified in one-third of the tumors and three of the cell lines. This region, commonly deleted in human cancers, contains several tumor suppressor genes including ARID1A and RUNX3.									
21412130	ARID1A	Mutation; Loss of expression	Low-grade Endometrioid Carcinoma of Endometrium	In conclusion, this study is the first large-scale analysis of a wide variety of carcinomas showing that uterine low-grade endometrioid carcinoma is the predominant tumor type harboring ARID1A mutations and frequent loss of ARID1A expression.									
21278881	ARID1A	Mutation	Clear Cell Carcinoma	For ovarian cancer, bevacizumab as a leading molecular targeted agent, pegylated liposomal doxorubicin in recurrent disease, the role of neoadjuvant chemotherapy in an advanced setting, an effective screening method, and ARID1A mutations as a clue to the origin of clear cell carcinoma are mentioned.									
21276610	ARID1A	Mutation	Ovarian Clear Cell Tumor	It is characterised by its association with endometriosis, and frequent mutations of ARID1A and PIK3CA.									
20942669	ARID1A	Mutation	Ovarian Clear Cell Tumor; Endometrioid Carcinoma	Since ARID1A mutation and loss of BAF250a can be seen in the preneoplastic lesions, we speculate that this is an early event in the transformation of endometriosis into cancer.									
20826764	ARID1A	Mutation	Ovarian Clear Cell Tumor	In a total of 42 OCCCs, 7% had mutations in PPP2R1A and 57% had mutations in ARID1A.; These results suggest that aberrant chromatin remodeling contributes to the pathogenesis of OCCC.									
21614196	ARID1A	loss of expression (mutation)	Ovarian Clear Cell Tumor	Recent genome-wide analysis has demonstrated that somatic mutations in ARID1A (BAF250) are the most common molecular genetic changes in ovarian clear cell carcinoma (OCCC).; In conclusion, this study provides further evidence that mutations in ARID1A resulted in loss of ARID1A protein expression in OCCC, although no significant differences between ARID1A positive and negative cases were observed with respect to any clinicopathological features examined.									
19066270	ARID1A	Loss of expression	Acute Lymphoblastic Leukemia	Statistically significant associations between decreased expression in ALL cells of genes for core subunits of the SWI/SNF complex-SMARCA4, ARID1A, and SMARCB1-and resistance to prednisolone and dexamethasone were identified in the training cohort.; In the validation cohort, expression of SMARCA4 (P < .001 and r = -0.43), ARID1A (P = .016 and r = -0.29), and SMARCB1 (P = .019 and r = -0.29) in ALL cells was statistically significantly associated with dexamethasone sensitivity, and SMARCA4 expression (P = .018 and r = -0.28) was statistically significantly associated with prednisolone sensitivity. Decreased expression of as many as three subunits of the SWI/SNF complex appears to be associated with glucocorticoid resistance in primary ALL cells.									
17492758	ARID1A	Mutation	Lung Adenocarcinoma	In further screening, we identified a lung adenocarcinoma cell line with a highly localized homozygous genomic deletion involving the 5' end of ARID1A.									
15382044	ARID1A	Loss of expression	Breast Carcinoma; Kidney Carcinoma	Expression of p270 (ARID1A), a component of human SWI/SNF complexes, in human tumors.; Deficiency of p270 was observed most frequently in carcinomas of the breast and kidney.									
21625441	IDH2	Mutation	Glioblastoma	Mutations in IDH2 at codon 172 are present in grade II-III gliomas at a low frequency.							α-ketoglutarate; 2HG	regulation	IDH1 and IDH2 mutations cause both loss of normal enzyme function and gain-of-function, causing reduction of α-KG to D-2-hydroxyglutarate (D-2HG) which accumulates.
27270325	CREBBP	Mutation	Breast Carcinoma	Mutations in CREBBP and SMAD4 have only been occasionally reported in breast cancer.									
21641335	IDH2	Mutation	Glioma	Heterozygous mutations in either the R132 residue of isocitrate dehydrogenase I (IDH1) or the R172 residue of IDH2 in human gliomas were recently highlighted.							α-ketoglutarate; 2HG	regulation	IDH1 and IDH2 mutations lead to simultaneous loss and gain of activities in the production of α-ketoglutarate (α-KG) and 2-hydroxyglutarate (2HG), respectively, and result in lowering NADPH levels even further.
26980735	CREBBP	Overexpression	Oral Cavity Carcinoma	Examinations on clinical samples exhibited that MMP-9, CREBBP, and EP300 were significantly increased in oral cancer tissues.				MMP-9; EP300	Positive correlation	Moreover, the relative level of CREBBP was positively correlated with the expression of MMP-9 and EP300.			
26920370	CREBBP	Mutation	Ovarian Carcinoma	Other recurrently mutated genes included ETS1, MLH1, PRKDC (3/10 each), and AMER1, ARID2, BCL11A, CREBBP, ERBB2, EXT1, FANCD2, MSH6, NF1, NOTCH1, NUMA1, PDE4DIP, PPP2R1A, RNF213, and SYNE1 (2/10 each).									
26873401	CREBBP	Mutation	Esophageal Squamous Cell Carcinoma	Many tumors contained mutations in genes that regulate the cell cycle (TP53, CCND1, CDKN2A, FBXW7); epigenetic processes (MLL2, EP300, CREBBP, TET2); and the NOTCH (NOTCH1, NOTCH3), WNT(FAT1, YAP1, AJUBA) and receptor-tyrosine kinase-phosphoinositide 3-kinase signaling pathways (PIK3CA, EGFR, ERBB2).									
26773040	CREBBP	genetic alteration	Diffuse Large B-Cell Lymphoma	The remaining 2 DLBCL models were germinal B-cell type, with characteristic alterations of GNA13, CREBBP, and EZH2, and chromosomal translocations involving IgH and either BCL2 or MYC Only 25% of the DLBCL PDX models harbored inactivating TP53 mutations, whereas 75% exhibited copy number alterations of TP53 or its upstream modifier, CDKN2A, consistent with the reported incidence and type of p53 pathway alterations in primary DLBCL.									
26631611	CREBBP	Mutation	Lymphoma	T-cell responses were directed toward putative driver mutations in CREBBP and MEF2B.									
26628108	CREBBP	Overexpression	Lung Carcinoma	Elevated expression of CBP was detected in lung cancer cells and tumor tissues compared to the normal lung cells and tissues.									
26598538	CREBBP	Mutation	Urothelial Carcinoma	This allowed identifying eight mutations of interest in two patients: FGFR3, PDGFRB, and CREBBP missense single-nucleotide variants (SNVs) in an urothelial carcinoma; FGFR2, FBXW7, TP53, and MLH1 missense SNVs as well as an ATM frameshift mutation in a squamous cell carcinoma of the tongue.									
26546837	CREBBP	Mutation	Small Cell Lung Carcinoma	We identified characteristic synchronous mutations in RB1 and TP53 and non-synchronous CREBBP and EP300 mutations.									
26541837	CREBBP	Overexpression	Renal Cell Carcinoma	On the contrary, the expression levels of miRNA-381 target genes (CBP, β-catenin and LEF-1) were significantly increased in cells and tissues.	miRNA-381	Negative regulation	Bioinformatics analysis showed that CREB binding protein (CBP), β-catenin and lymphoid enhancer binding factor-1 (LEF-1) were the potential targets of miRNA-381. On the contrary, the expression levels of miRNA-381 target genes (CBP, β-catenin and LEF-1) were significantly increased in cells and tissues.						
26473533	CREBBP	Mutation	Diffuse Large B-Cell Lymphoma	Here, we discuss the function of histone acetyltransferases (CREBBP, EP300), histone methyltransferases (KDM2C/D, EZH2) and regulators of higher order chromatin structure (HIST1H1C/D/E, ARID1A and SMARCA4) that have been reported to be mutated in 5% of DLBCL, FL or BL.									
26256760	CREBBP	Mutation	Follicular Lymphoma	Overall, 146 (97%) follicular lymphomas harboured non-silent mutations in epigenetic modifi ers, with predominantly dis ruptive mutations found in KMT2D, CREBBP, EP300, ARID1A, and BCL7A.									
26206799	CREBBP	Copy number loss	T Acute Lymphoblastic Leukemia	Copy number variations were also detected, including deletions of CREBBP or CTCF and duplication of MYB.									
26189108	CREBBP	Mutation (loss of function)	Acute Lymphoblastic Leukemia	Oncogenic mutations of RAS pathway genes (NRAS, KRAS, FLT3, n=4) and deactivating mutations of major epigenetic regulators (CREBBP, EP300, each n=2 and ARID4B, EZH2, MACROD2, MLL2, each n=1) were prominent in these cases and virtually absent in non-recurrent cases (n=6) or other pediatric acute lymphoblastic leukemia cases (n=18).									
25917266	CREBBP	Mutation	Hyperdiploid B Acute Lymphoblastic Leukemia	Our results confirm the exceptional susceptibility of HD ALL to RTK/Ras pathway and CREBBP mutations, but, more importantly, suggest that mutant KRAS and CREBBP might cooperate and equip cells with the necessary capacity to evolve into a relapse-generating clone.				KRAS	co-occurrence	AlthoughKRASandNRASmutations at relapse were similarly frequent (23% and 19%, respectively), only theKRASones concurred with theCREBBPmutations.; This observation implies that these two mutations exert an interdependent function and cooperate in aRASisoform-specific and synergistic manner under the selective pressure of the applied chemotherapy.			
25915404	CREBBP	Overexpression	Bladder Carcinoma	Among the 42 upregulated and 14 downregulated proteins with statistical significance in BC tissues, CREB-binding protein and CD81 were selected as representative upregulated and downregulated candidate biomarkers, respectively.; Taken together, our findings suggest that expression of CREB-binding protein and CD81 in BC tissue specimens may have prognostic value in patients with primary HG NMIBC.									
25839328	CREBBP	Mutation	Esophageal Squamous Cell Carcinoma	In our combined cohort, we identified frequent inactivating mutations in AJUBA, ZNF750, and PTCH1 and the chromatin-remodeling genes CREBBP and BAP1, in addition to known mutations.									
25790293	CREBBP	Mutation	B Acute Lymphoblastic Leukemia	Six pathways were frequently mutated, with NT5C2, CREBBP, WHSC1, TP53, USH2A, NRAS and IKZF1 mutations enriched at relapse.									
25735316	CREBBP	Mutation	Prostate Carcinoma	While both components showed TMPRSS2:ERG fusions, the SCC component exclusively harbored complete TP53 inactivation (frameshift variant and copy loss) and two CREBBP mutations.									
25713363	CREBBP	Mutation	Follicular Lymphoma	Among all somatically mutated genes, CREBBP mutations were most significantly enriched within the earliest inferable progenitor.									
25548695	CREBBP	Mutation	Acute Myeloid Leukemia	AML with t (8;16) is a specific translocation leading to formation of a fusion protein (MYST3/CREBBP).				MYST3	Fusion	MYST3/CREBBP Rearranged Acute Myeloid Leukemia after Adjuvant Chemotherapy for Breast Cancer.; AML with t (8;16) is a specific translocation leading to formation of a fusion protein (MYST3/CREBBP).			
25151357	CREBBP	Mutation	Esophageal Squamous Cell Carcinoma	Histone modifier genes were frequently mutated, including KMT2D (also called MLL2; 19%), KMT2C (MLL3; 6%), KDM6A (7%), EP300 (10%) and CREBBP (6%).									
25027518	CREBBP	Mutation	Follicular Lymphoma	The distribution of coding mutations in driver genes and the correlation with SHM suggest CREBBP and AID to be potential modifiers of genetic and epigenetic co-evolution in FL.									
24942943	CREBBP	genetic aberration	Follicular Lymphoma	With recent advances in the technology for DNA analysis, recurrent gene aberrations such as TNFRSF14, EPHA7, EZH2, CREBBP, EP300, MLL2 and MEF2B have been identified.									
24942941	CREBBP	Mutation	Follicular Lymphoma	From genome-wide analysis by next-generation sequencing, EZH2, CREBBP and MLL2, which are histone-modifying genes, have been shown to be frequently mutated in FL and to have an important role in lymphomagenesis.									
24870942	CREBBP	Mutation	Diffuse Large B-Cell Lymphoma	The germinal center B cell-like subgroup is linked to mutational changes in EZH2 and CREBBP.									
24798186	CREBBP	Mutation	Acute Myeloid Leukemia	An acute myeloid leukemia was suspected of having a t(8;16)(p11;p13) resulting in a KAT6A-CREBBP fusion because the bone marrow was packed with monoblasts showing marked erythrophagocytosis.									
21900401	ARID1A	Mutation	Endometrioid Carcinoma; Ovarian Clear Cell Tumor; Endometrioid Carcinoma of Endometrium	ARID1A (BAF250A) promotes the formation of SWI/SNF chromatin remodeling complexes containing BRG1 or BRM. It has emerged as a candidate tumor suppressor based on its frequent mutations in ovarian clear cell and endometrioid cancers and in uterine endometrioid carcinomas.				p53	Binding	Finally, we obtained evidence that the ARID1A/BRG1 complex interacted directly with p53 and that mutations in the ARID1A and TP53 genes were mutually exclusive in tumor specimens examined.; Our results provide functional evidence in support of the hypothesis that ARID1A is a bona fide tumor suppressor that collaborates with p53 to regulate CDKN1A and SMAD3 transcription and tumor growth in gynecologic cancers.			
24709692	CREBBP	Mutation	Small Cell Lung Carcinoma	Somatic mutations were found in TP53 and CREBBP.									
22387365	ZGPAT	SNP	Glioblastoma ; Astrocytoma	Among 99 SNPs, five independent susceptibility loci (20-62315594 in RTEL1, 20-62335293 in adenosine diphosphate ribosylation factor-related protein 1, rs3761121 in ZGPAT, rs1058319 in SLC2A4RG and rs5019252 in ZBTB46) were identified for glioma.; Other four SNPs were significantly associated with both GBM and astrocytoma.									
25529843	POLE3	Mutation	Colorectal Adenocarcinoma ; Colorectal Carcinoma	Therefore, targeted sequencing of the polymerase genes POLD1, POLD2, POLD3, POLD4, POLE, POLE2, POLE3 and POLE4 was performed in 266 unrelated patients with polyposis or fulfilled Amsterdam criteria. The POLE mutation c.1270C>G;p.Leu424Val was detected in four unrelated patients.; The mutation was present in 1.5% (4/266) of all patients, 4% (3/77) of all familial cases and 7% (2/30) of familial polyposis cases.									
26627478	ZCWPW2	Loss of expression	Prostate Carcinoma	DY131 acted as an antagonist for 11 of 15 mRNAs (wdr52, f13a1, pxdn, spns2, loc100506599, tagln, loc441454, tkel1, sema3f, zcwpw2, sdc2) and as an agonist for 4 of the 15 mRNAs (rarres3, oasl, padi2, ddx60).									
21551254	TDRD12	hypomethylation	Salivary Gland Adenoid Cystic Carcinoma	We found 159 genes that were significantly re-expressed after 5-aza-dC/TSA treatment and overexpressed in ACC. After initial validation, eight candidates showed hypomethylation in ACC: AQP1, CECR1, C1QR1, CTAG2, P53AIP1, TDRD12, BEX1, and DYNLT3.									
27060156	ZMYM3	Mutation	Chronic Lymphocytic Leukemia	In contrast, mutations in NOTCH1, SF3B1, POT1, FBXW7, MYD88, NXF1, XPO1, ZMYM3, or CHD2 were predominantly already clonal prior to therapy indicative of a pretreatment pathogenetic driver role in CLL.									
26200345	ZMYM3	genetic alteration	Chronic Lymphocytic Leukemia	We extend the number of CLL driver alterations, including changes in ZNF292, ZMYM3, ARID1A and PTPN11.									
25030029	ZMYM3	Mutation	Medulloblastoma	The data show gene mutations associated with i17q tumors in previous studies (KMD6A, ZMYM3, MLL3 and GPS2) were correlated with significantly worse outcomes despite not being specific to i17q in this set.									
22105553	IDH2	Mutation	Glioma	Glioma-specific mutations in IDH1 always produced a single amino acid substitution at R132, but mutations in IDH2 were exclusively at R172 which was the analogous site to R132 in IDH1. Mutations of IDH1 and IDH2 led to simultaneous loss and gain of activities in the production of α-ketoglutarate and 2-hydroxyglutarate, respectively.				α-ketoglutarate	Mutation-induced negative correlation	Mutations of IDH1 and IDH2 led to simultaneous loss and gain of activities in the production of α-ketoglutarate and 2-hydroxyglutarate, respectively.	2HG	regulation	Mutations of IDH1 and IDH2 led to simultaneous loss and gain of activities in the production of α-ketoglutarate and 2-hydroxyglutarate, respectively.
22722829	ZMYM3	Mutation	Medulloblastoma	Recurrent mutations were detected in 41 genes not yet implicated in medulloblastoma; several target distinct components of the epigenetic machinery in different disease subgroups, such as regulators of H3K27 and H3K4 trimethylation in subgroups 3 and 4 (for example, KDM6A and ZMYM3), and CTNNB1-associated chromatin re-modellers in WNT-subgroup tumours (for example, SMARCA4 and CREBBP).									
22150006	ZMYM3	Mutation	Chronic Lymphocytic Leukemia	Nine genes that are mutated at significant frequencies were identified, including four with established roles in chronic lymphocytic leukemia (TP53 in 15% of patients, ATM in 9%, MYD88 in 10%, and NOTCH1 in 4%) and five with unestablished roles (SF3B1, ZMYM3, MAPK1, FBXW7, and DDX3X).									
24742402	SP110	Overexpression	Malignant Skin Neoplasm	As a result, we found that 1535 transcripts were deregulated in CDKN2A mutated cells, with over-expression of immunity-related genes (HLA-DPB1, CLEC2B, IFI44, IFI44L, IFI27, IFIT1, IFIT2, SP110 and IFNK) and down-regulation of genes playing a role in the Notch signaling pathway.				CDKN2A	association	As a result, we found that 1535 transcripts were deregulated in CDKN2A mutated cells, with over-expression of immunity-related genes (HLA-DPB1, CLEC2B, IFI44, IFI44L, IFI27, IFIT1, IFIT2, SP110 and IFNK) and down-regulation of genes playing a role in the Notch signaling pathway.			
21785329	SP110	copy number gain	Malignant Peripheral Nerve Sheath Tumor	MPNST had gains involving chromosomes 1p, 2q, and 19p and loss of chromosome 21q. Gains of MUM1, APC2, MAP2K2, JMJD2B, SP110, PTMA, GPI, and CDKN2D were detected.									
19383909	SMYD4	Mutation; Underexpression; Loss of expression	Breast Carcinoma	We found that the disruption of one allele of Smyd4 (SET and MYND domain containing 4) gene through chromosome translocation led to tumorigenesis. The expression of Smyd4 was markedly decreased in tumor cells.; In human breast cancers, reverse transcription-PCR results revealed that Smyd4 expression was totally silenced in 2 of 10 specimens.							PDGFRA	Negative regulation	Re-expression of Smyd4 significantly reduced the expression of Pdgfr-alpha in tumor cells.; These findings indicate that Smyd4, as a potential tumor suppressor, plays a critical role in breast carcinogenesis at least partly through inhibiting the expression of Pdgfr-alpha, and could be a novel target for improving treatment of breast cancer.
25644430	SMYD1	Overexpression	Rhabdomyosarcoma	SMYD1 and G6PD modulation are critical events for miR-206-mediated differentiation of rhabdomyosarcoma.; SMYD1, one of the most highly upregulated genes, is a H3K4 histone methyltransferase.									
17334388	SGF29	Overexpression	Hepatocellular Carcinoma	Both rat (r) SGF29 and c-myc mRNAs were overexpressed in five out of the eight tested rodent tumor cells.									
18410541	SCML2	Overexpression	Acute Myeloid Leukemia	To analyse the role of deregulated PcG genes in acute myeloid leukaemia (AML), we determined by RQ-PCR the expression of the PcG genes BMI-1, MEL18, SCML2, YY1 and EZH2, and the downstream PcG targets HOXA4, HOXA9 and MEIS1 in diagnostic bone marrow samples from 126 AML patients.; There was a general overexpression of the genes in AML patients compared to 20 healthy donors, except of HOXA4 and MEL18, which both displayed a wide range of expression levels within the AML subgroups. inv(16) positive patients showed significantly different expression of SCML2, BMI-1, YY1, HOXA9 and MEIS1 (P < or = 0.01).									
26488939	SETD3	Underexpression	Renal Cell Carcinoma	We found that the expression levels of 3 genes--SMYD2, SETD3, and NO66--was significantly altered in a set of RCTs, which was further validated in a large independent cohort.; Low expression levels of SMYD2, SETD3, and NO66 were significantly associated with shorter disease-specific and disease-free survival, especially in patients with non-organ confined tumors.									
24441149	SETD3	Copy number gain	Acute Myeloid Leukemia	By genome-wide genotyping of 137 cases of primary acute myeloid leukemia, we disclosed a recurrent focal amplification on chromosome 14q32, which included the genes BCL11B, CCNK, C14orf177 and SETD3, in two cases.									
23065515	SETD3	Mutation (loss of function)	Lymphoma	We showed that a truncated mRNA lacking the SET domain sequences in Setd3 gene was highly expressed in the lymphoma.									
19888451	RTF1	Mutation	Colon Carcinoma	3'UTR MSs demonstrated MSI frequencies in MSI-H tumors higher than the 99% upper limit predicted by MS length for RB1-inducible coiled-coil 1(RB1CC1, mutation frequency 68.4%), NUAK family SNF1-like kinase 1(NUAK1, 31.0%), and Rtf1, Paf1/RNA polymerase II complex component, homolog (RTF1, 25.0%).									
25739334	RNF17	Mutation	Azoospermia	We found a significant excess of rare, non-silent variants in genes that are key epigenetic regulators of spermatogenesis, such as BRWD1, DNMT1, DNMT3B, RNF17, UBR2, USP1 and USP26, in NOA patients (P = 5.5 × 10(-7)), corresponding to a carrier frequency of 22.5% of patients and 13.7% of controls (P = 1.4 × 10(-5)).									
17044048	RERE	Underexpression	Neuroblastoma	When comparing 1p-deleted tumors of all stages to tumors with an intact 1p, a significant difference at gene-by-gene level in TNFRSF9, RERE, PIK3CD, CLSTN1, CTNNBIP1, and CASZ1 was detected.; Several of the genes with diminished expression in unfavorable or 1p-deleted tumors have functions that could contribute to tumor development.									
11331249	RERE	Mutation	Neuroblastoma	We have independently identified RERE in a search for genes localized to the translocation breakpoint region at chromosome 1p36.2 in the neuroblastoma cell line NGP.									
17693186	PRDM6	Loss of expression	Squamous Cell Carcinoma	Even when SA pools showed no Schistosoma-specific gene copy number profiling as compared to NSA pools, some genes seemed to be gained (ELN on 7q11.23) and some lost (PRKAG3 on 2q35 and PRDM6 on 5q23.2) in SA-SCC.									
12835719	PRDM12	Copy number loss	Chronic Myeloid Leukemia	Detailed mapping of the 25 Q-PCR microdeletions showed that the minimal deleted region extended approximately 120 kb from the 5' end of the ABL gene in the centromeric direction on the derivative chromosome 9, and the region 3' to BCR on chromosome 22 was excluded. Of the four ESTs and/or genes that map to the 120 kb region, the putative tumor suppressor PRDM12 is the strongest candidate gene.									
23222848	PRDM9	Mutation	Leukemogenesis	Rare allelic forms of PRDM9 associated with childhood leukemogenesis.									
25692239	SMN2	Underexpression	Spinal Muscular Atrophy	The second gene copy, SMN2, produces some, but not enough, functional SMN protein.									
24632473	SMN2	Underexpression; Mutation	Spinal Muscular Atrophy	Humans contain a second SMN gene called SMN2 thus SMA patients produce some SMN but not with sufficient levels. The majority of SMN2 mRNA does not include exon 7.; Here we show that increased expression of PSF promotes inclusion of exon 7 in the SMN2 whereas reduced expression of PSF promotes exon 7 skipping.; These results lead us to conclude that PSF interacts with an enhancer in exon 7 to promote exon 7 splicing of SMN2 pre-mRNA.				PSF	Negative correlation	Here we show that increased expression of PSF promotes inclusion of exon 7 in the SMN2 whereas reduced expression of PSF promotes exon 7 skipping.			
22763238	SMN2	Mutation	Spinal Muscular Atrophy	Reduced levels of SMN is due to the loss of the SMN1 gene and inefficient splicing of the SMN2 gene caused by a C>T mutation in exon 7.									
22543872	SMN2	Underexpression (copy number loss)	Spinal Muscular Atrophy	The variability of disease severity inversely correlates with the copy number, and thus expression of a second, partially functional survival motor neuron gene, SMN2.									
21538807	SMN2	Underexpression	Spinal Muscular Atrophy	Proximal spinal muscular atrophy (SMA) is caused by low levels of the SMN protein, encoded by the Survival Motor Neuron genes (SMN1 and SMN2).									
20186123	SMN2	Mutation	Spinal Muscular Atrophy	We observed that the C-to-T transition in SMN2 creates a putative binding site for the RNA-binding protein Sam68.; In vivo splicing assays showed that Sam68 triggers SMN2 exon-7 skipping.				SAM68	Negative correlation	In vivo splicing assays showed that Sam68 triggers SMN2 exon-7 skipping. Moreover, mutations in the Sam68-binding site of SMN2 or in the RNA-binding domain of Sam68 completely abrogated its effect on exon-7 skipping.			
19584083	SMN2	Underexpression	Spinal Muscular Atrophy	Importantly, all SMA patients carry a nearly identical copy gene, SMN2, that produces only minor levels of correctly spliced full-length transcripts and SMN protein.									
16805808	SMN2	Underexpression	Spinal Muscular Atrophy	Among a panel of histone deacetylase (HDAC) inhibitors investigated, suberoylanilide hydroxamic acid (SAHA) evolved as a potent and non-toxic candidate drug for the treatment of spinal muscular atrophy (SMA), an alpha-motoneurone disorder caused by insufficient survival motor neuron (SMN) protein levels.	SAHA	Positive regulation	SAHA activated survival motor neuron gene 2 (SMN2), the target gene for SMA therapy, and inhibited HDACs at submicromolar doses, providing evidence that SAHA is more efficient than the HDAC inhibitor valproic acid, which is under clinical investigation for SMA treatment.						
27153398	SMCHD1	Mutation	Facioscapulohumeral Muscular Dystrophy	Somatic DUX4 derepression is caused either by a 1-10 unit repeat-array contraction (FSHD1) or by mutations in SMCHD1, which encodes a chromatin repressor that binds to D4Z4 (FSHD2).									
26575099	SMCHD1	Mutation	Facioscapulohumeral Muscular Dystrophy	A copy of DUX4 is located within each unit of the D4Z4 macrosatellite repeat array and its derepression in somatic cells is caused by either repeat array contraction (FSHD1) or by mutations in the chromatin repressor SMCHD1 (FSHD2).									
26041815	SMCHD1	Mutation	Facioscapulohumeral Muscular Dystrophy	The DUX4 retrogene is encoded in the D4Z4 macrosatellite repeat array, and smaller array size or a mutation in the SMCHD1 gene results in inefficient epigenetic repression of DUX4 in skeletal muscle, causing FSHD1 and FSHD2, respectively.							DUX4	Positive regulation	The DUX4 retrogene is encoded in the D4Z4 macrosatellite repeat array, and smaller array size or a mutation in the SMCHD1 gene results in inefficient epigenetic repression of DUX4 in skeletal muscle, causing FSHD1 and FSHD2, respectively.
25820463	SMCHD1	Copy number loss	Facioscapulohumeral Muscular Dystrophy	Numerical aberrations of chromosome 18 are relatively common and the majority of 18p deletion syndrome (18p-) cases have, such as these FSHD2 families, only one copy of SMCHD1.									
25782668	SMCHD1	Mutation	Facioscapulohumeral Muscular Dystrophy	FSHD2, the less common form of FSHD, is most often caused by heterozygous variants in the chromatin modifier SMCHD1, which is involved in the maintenance of D4Z4 methylation.									
25256356	SMCHD1	Mutation	Facioscapulohumeral Muscular Dystrophy	In FSHD2, this epigenetic susceptibility depends on the nature of the SMCHD1 mutation in combination with D4Z4 repeat array size with dominant negative mutations being more deleterious than haploinsufficiency mutations.									
23269277	SMCHD1	Loss of expression	Leukemia	Global gene expression profiling suggested that Smchd1 normally represses genes activated by MLL chimeric fusion proteins in leukemia, implying that Smchd1 loss may work through the same pathways as overexpressed MLL fusion proteins do in leukemia and lymphoma.									
23833654	PHF14	Loss of expression	Liver and Intrahepatic Bile Duct Carcinoma	No PHF14 mRNA or protein expression was detected, thus demonstrating the absence of PHF14 expression in the OZ cell line.; These observations suggest that aberrant PHF14 expression may have a role in the tumorigenesis of BTC.									
17086209	PHF14	Mutation	Colon Carcinoma	To demonstrate the improved efficiency of this approach, we analysed colon cancer cell lines showing microsatellite instability.; Bi-allelic inactivating mutations were found in the FXR1, SEC31L1, NCOR1, BAT3, PHF14, ZNF294, C19ORF5 genes as well as genes coding for proteins with yet unknown functions.									
27625789	PCGF6	Mutation	Metastatic Malignant Neoplasm in the Breast	We identify driver mutations in ADPGK, NUP93, PCGF6, PKP2 and SLC22A5, which are verified to enhance cancer cell migration and prompt metastasis with in vitro experiments.									
26001296	PCGF6	Underexpression	Acute Lymphoblastic Leukemia	Six genes whose expression in leukemic blasts was associated with prognosis were identified:three genes predicting poor prognosis (AK022211, FASTKD1 and STARD4) and three genes associated with a favorable outcome (CAMSAP1, PCGF6 and SH3RF3).; IndeedAK022211, FASTKD1andPCGF6are active in early precursors of hematopoietic cells (CD34 positive cells from cord blood and/or bone marrow), whileSTARD4 was found to be preferentially expressed in blood B-lymphocytes andSH3RF3in bone marrow neutrophils.									
17108083	SHPRH	Mutation	Melanoma; Ovarian Carcinoma	Such a role for SHPRH is consistent with the observation that this gene is mutated in a number of cancer cell lines, including those from melanomas and ovarian cancers, which raises the strong possibility that SHPRH function is an important deterrent to mutagenesis and carcinogenesis in humans.									
12837266	SHPRH	Mutation	Melanoma; Ovarian Carcinoma; Breast Carcinoma; Pancreatic Carcinoma; Prostate Carcinoma; Cervical Carcinoma; Childhood Yolk Sac Tumor; Hepatocellular Carcinoma	We have identified one truncating and three missense mutations, thus suggesting SHPRH as a possible candidate for the tumor suppressor gene.									
22824796	IDH2	Mutation	Glioma; Myeloid Leukemia; Chondrosarcoma; Thyroid Gland Carcinoma; Intrahepatic Cholangiocarcinoma	Mutations in the genes encoding isocitrate dehydrogenase, IDH1 and IDH2, have been reported in gliomas, myeloid leukemias, chondrosarcomas and thyroid cancer. We discovered IDH1 and IDH2 mutations in 34 of 326 (10%) intrahepatic cholangiocarcinomas.							5hmc; H3K79; p53	regulation	Tumor with mutations in IDH1 or IDH2 had lower 5-hydroxymethylcytosine and higher 5-methylcytosine levels, as well as increased dimethylation of histone H3 lysine 79 (H3K79). IDH1 and IDH2 mutations were significantly associated with increased levels of p53 in intrahepatic cholangiocarcinomas, but no mutations in the p53 gene were found, suggesting that mutations in IDH1 and IDH2 may cause a stress that leads to p53 activation.
19530241	SFMBT2	Hypermethylation	Follicular Lymphoma	Using Methylated CpG Island Amplification with Microarrays to study CpG Island DNA methylation in FL, we discovered widespread hypermethylation of homeobox genes and previously identified targets of polycomb repressive complex 2 (PRC2) in cell lines and primary tumors, but not in benign follicular hyperplasia (BFH).; DNA methylation for HOXA11, HOXD10, HOXB7, HOXC12, PAX6, LHX9, SFMBT2, EN2, and PAX7 was independently validated in the RL cell line and HOXA11, HOXD10, PAX6, and EN2 in primary tumors.									
26488797	PRMT2	Overexpression	Ovarian Carcinoma	New activated molecules such as FAS, ZMAT3, PRMT2, BBC3/PUMA, and PDCD4, whose overexpressions are correlated with overcoming resistance to cisplatin therapy, were also identified as potential targets.									
23226729	IDH2	Mutation	Glioma; Acute Myeloid Leukemia	The abnormal expression of IDH2 has been reported in several types of cancer, and mutations in IDH2 have been identified in gliomas and acute myelogenous leukemia.									
23226729	IDH2	Overexpression	Endometrial Carcinoma; Prostate Carcinoma; Testicular Cancer; Osteochondroma	The overexpression of IDH2 has been reported in endometrial, prostate and testicular cancer as well as in Kashin-Beck disease.									
24292672	PRMT2	Loss of expression	Breast Carcinoma; Ductal Carcinoma	In addition, PRMT2 was found to show a high absent percentage in breast caner cell nuclei and the nuclear loss ratio of PRMT2 was demonstrated to positively correlate with cyclin D1 expression and the increasing tumor grade of invasive ductal carcinoma.				CyclinD1	Positive correlation	Furthermore, a positive correlation between the expression of PRMT2 and cyclin D1 was confirmed in the breast cancer tissues by using tissue microarray assay.			
22093364	PRMT2	Overexpression	Breast Carcinoma	Real-time PCR and immunohistochemistry showed that overall PRMT2 expression was upregulated in breast cancer tissues and significantly associated with ERα positivity status both in breast cancer cell lines and breast cancer tissues.									
21820040	PRMT2	Overexpression	Breast Carcinoma	Statistical analysis further showed that both PRMT2 and PRMT2L2 mRNAexpressions were up-regulated in breast cancer tissues, and significantly associated with ERα positivity status.									
15825179	PHF13	Overexpression	Ovarian Carcinoma	In addition, high SPOC1 mRNA expression was observed in several ovarian cancer cell lines.									
27516958	MTF2	overexpression	Colorectal Carcinoma	The increased SLC31A1 mRNA level is accompanied by a parallel increase in transcript levels for copper efflux pump ATP7A, copper metabolism Murr1 domain containing 1 (COMMD1), the cytochrome C oxidase assembly factors [synthesis of cytochrome c oxidase 1 (SCO1) and cytochrome c oxidase copper chaperone 11 (COX11)], the cupric reductase six transmembrane epithelial antigen of the prostate (STEAP3), and the metal-regulatory transcription factors (MTF1, MTF2) and specificity protein 1 (SP1).				SLC31A1	Positive correlation	The increased SLC31A1 mRNA level is accompanied by a parallel increase in transcript levels for copper efflux pump ATP7A, copper metabolism Murr1 domain containing 1 (COMMD1), the cytochrome C oxidase assembly factors [synthesis of cytochrome c oxidase 1 (SCO1) and cytochrome c oxidase copper chaperone 11 (COX11)], the cupric reductase six transmembrane epithelial antigen of the prostate (STEAP3), and the metal-regulatory transcription factors (MTF1, MTF2) and specificity protein 1 (SP1).			
25416054	NCOA5	Underexpression	Esophageal Squamous Cell Carcinoma	Furthermore, we found NCOA5 higher expression in normal tissues than in tumor tissues by Western blot analysis.									
24411937	NCOA5	Underexpression	Hepatocellular Carcinoma	A recent study (Gao et al., 2013) provides some support to this hypothesis by showing that haplo-insufficiency of NCOA5, a transcriptional regulator that suppresses IL-6 expression, predisposes mice to insulin resistance, T2D and HCC.							IL-6	Negative regulation	A recent study (Gao et al., 2013) provides some support to this hypothesis by showing that haplo-insufficiency of NCOA5, a transcriptional regulator that suppresses IL-6 expression, predisposes mice to insulin resistance, T2D and HCC.
24332041	NCOA5	Underexpression	Hepatocellular Carcinoma	NCOA5 haploinsufficiency results in glucose intolerance and subsequent hepatocellular carcinoma.; Moreover, reduced NCOA5 expression is associated with a fraction of human HCCs and HCCs with comorbid T2D.							IL-6	Negative regulation	These findings suggest that NCOA5 is a haploinsufficient tumor suppressor and that NCOA5 deficiency increases susceptibility to both glucose intolerance and HCC, partially by increasing IL-6 expression.
25258321	ASH2L	Overexpression (copy number gain)	Breast Carcinoma	We found that increased ASH2L expression, which can result from gene amplification, is often correlated with increased ERα expression in both breast cancer cell lines and primary breast cancers.				GATA3	Coactivator	This study established that ASH2L enhances ERα expression as a coactivator of GATA3 in breast cancers.	ERα	Positive regulation	We found that increased ASH2L expression, which can result from gene amplification, is often correlated with increased ERα expression in both breast cancer cell lines and primary breast cancers.; Forced expression of ASH2L induced ERα expression in mammary epithelial cells, whereas depletion of ASH2L suppressed ERα expression in breast cancer cells.
23117580	ASH2L	Underexpression	Breast Carcinoma	The decrease in histone H3K4me3 at global and gene-specific levels correlated with reduced expression of SETD1 and ASH2L, genes encoding the histone H3K4 methyltransferase complex.									
27064257	ASH1L	altered expression	Hepatocellular Carcinoma	STV analysis found a significant association with replication timing and identified known (CDKN2A, CCND1, APC, and TERT) and new (ASH1L, NCOR1, and MACROD2) cancer-related genes that were recurrently affected by STVs, leading to altered expression.									
24549719	IDH2	Mutation	Glioma	Mutations of IDH1 and IDH2 lead to simultaneous loss and gain of activities in the production of α-ketoglutarate and 2-hydroxyglutarate, respectively.							α-ketoglutarate; 2HG	regulation	Mutations of IDH1 and IDH2 lead to simultaneous loss and gain of activities in the production of α-ketoglutarate and 2-hydroxyglutarate, respectively.
24710217	CREBBP	Mutation	Acute Lymphoblastic Leukemia)	The most frequently mutated genes are H3F3A, PHF6, ATRX, KDM6A, SMARCA4, ASXL2, CREBBP, EZH2, MLL2, USP7, ASXL1, NSD2, SETD2, SMC1A and ZMYM3. Additional epigenetic regulators recurrently mutated in pediatric cancer include CREBBP, EED, EP300, EZH2, PHF6, and SETD2 in acute lymphoblastic leukemia4�?, CHD7, HDAC9, KDM4C, KDM6A, MLL2, SMARCA4 and ZMYM3 in medulloblastoma7, and ATRX in neuroblastoma and high-grade glioma2,8.									
25921222	ASH1L	SNP	Gastric Carcinoma	Our top-ranked SNPs were: rs6983924 inAGO2(OR=1.16; 95% CI=1.06�?.27;P-valueSNP=9.7E-04) for ESCC; rs12724079 inASH1L(OR=0.84; 95% CI=0.75�?.94;P-valueSNP=0.003) for GC; rs10412487 inMBD3L1(OR=0.82; 95% CI=0.74�?.92;P-valueSNP=7.2E-04) in GCA; and rs3783834 inRPS6KA5(OR=1.25; 95% CI=1.10�?.43;P-valueSNP=6.3E-04) for GNCA.									
24710217	ZMYM3	Mutation	Childhood Malignant Neoplasm	The most frequently mutated genes are H3F3A, PHF6, ATRX, KDM6A, SMARCA4, ASXL2, CREBBP, EZH2, MLL2, USP7, ASXL1, NSD2, SETD2, SMC1A and ZMYM3.									
25450519	ASH1L	Mutation	Gastric Carcinoma	Using SSCP in conjunction with DNA sequencing we detected frameshift mutations in AGXT (17 cases), ALDH2 (3 cases), APIP (4 cases), MTR (5 cases), DNMT1 (1 case), ASH1L (1 case), ASPA (2 cases), CAD (2 cases), DDC (1 case), GCDH (3 cases), DLD (1 case), LAP3 (1 case), MCEE (5 cases) and MUT (1 case).									
25238203	ASH1L	Overexpression	Thyroid Gland Follicular Carcinoma	Here we show that miR-142-3p is downregulated in FTAs, FTCs, and FVPTCs.Moreover, this microRNA was able to downregulate the expression of ASH1L and MLL1, by direct and indirect mechanisms, respectively. 				miR-142-3p	Negative correlation	Consistently, an inverse correlation between miR-142-3p expression and ASH1L and MLL1 proteins was found in thyroid follicular adenomas and carcinomas.			
24755471	ASH1L	Mutation	Colorectal Carcinoma	Furthermore, we documented mutations enriched in genes involved in chromatin remodeling (ARID1A, CHD6, and SRCAP) and histone methylation or acetylation (ASH1L, EP300, EP400, MLL2, MLL3, PRDM2, and TRRAP).									
24670651	ASH1L	altered expression	Esophageal Squamous Cell Carcinoma	Moreover, we have found that several important histone regulator genes (MLL2 (also called KMT2D), ASH1L, MLL3 (KMT2C), SETD1B, CREBBP and EP300) are frequently altered in ESCC.									
23033341	ASH1L	Mutation	Lung Carcinoma	A number of epigenetic regulators, including KDM6A, ASH1L, SMARCA4, and ATAD2, are frequently altered by mutations or copy number changes. The ASH1L gene is mutated in nine cell lines. 									
18277965	ASH1L	Overexpression (copy number gain)	Hepatocellular Carcinoma	Cytogenetics of hepatocellular carcinoma and adenoma have revealed gains of chromosome 1q as a significant differentiating factor.  Gene set enrichment analysis detected groups of upregulated genes located in chromosome bands 1q22-42 seen also as the most frequently gained regions by comparative genomic hybridisation. Comparison of significance analysis of microarray and gene set enrichment analysis narrowed down the number of dysregulated genes to 18, with 7 genes localised on 1q22 (SCAMP3, IQGAP3, PYGO2, GPATC4, ASH1L, APOA1BP, and CCT3).									
24710217	ASXL2	Mutation	Glioma; T Acute Lymphoblastic Leukemia; Medulloblastoma	The most frequently mutated genes are H3F3A, PHF6, ATRX, KDM6A, SMARCA4, ASXL2, CREBBP, EZH2, MLL2, USP7, ASXL1, NSD2, SETD2, SMC1A and ZMYM3.									
24911119	PRMT2	Underexpression	Breast Carcinoma	We demonstrate PRMT2 mRNA expression was significantly decreased in breast cancer relative to normal breast.							P21; CyclinD1	Negative regulation	For example, PRMT2 depletion achieved the following: 1) increased p21 and decreased cyclinD1 expression in (several) breast cancer cell lines, 2) decreased cell migration, 3) induced an increase in nucleotide excision repair and homologous recombination DNA repair, and 4) increased the probability of distance metastasis free survival (DMFS).
19779621	BAZ2A	Overexpression	Chronic Lymphocytic Leukemia	These targets included 2 genes (BAZ2A and RNF41) that were significantly up-regulated (p<0.05) and 3 genes (RASSF5, MKK3 and LRIG1) that were significantly down-regulated (p<0.05) in CLL patients with down-regulated MIR-15a/16-1 expression.									
25098926	TDG	Underexpression	Gastric Carcinoma	The loss of 5-hmC and the down-regulation of TET1-3, TDG and IDH2 were found in GCs.									
25920810	BRPF1	Mutation	Childhood Leukemia; Adult Medulloblastoma	In addition, the BRPF1 gene is mutated in childhood leukemia and adult medulloblastoma.									
25098926	IDH2	Underexpression	Gastric Carcinoma	The expressions of TET1, TET2, TET3, TDG and IDH2, but not IDH1, were notably decreased in GCs, compared with the adjacent non-tumor portion. The loss of 5-hmC and the down-regulation of TET1-3, TDG and IDH2 were found in GCs.									
25485837	BAZ2A	Overexpression	Prostate Carcinoma	Here we show that the gene encoding BAZ2A (TIP5), a factor previously implicated in epigenetic rRNA gene silencing, is overexpressed in prostate cancer and is paradoxically involved in maintaining prostate cancer cell growth, a feature specific to cancer cells.				EZH2	Binding	BAZ2A regulates numerous protein-coding genes and directly interacts with EZH2 to maintain epigenetic silencing at genes repressed in metastasis.			
27470916	ASXL2	Mutation	Acute Myeloid Leukemia	In this study, whole-exome sequencing (WES) of 22 paediatric AML patients revealed mutations in components of the cohesin complex (RAD21 and SMC3), BCORL1 and ASXL2 in addition to previously known gene mutations.									
26640146	ASXL2	Overexpression	Breast Carcinoma	ASXL2 promotes proliferation of breast cancer cells by linking ERα to histone methylation. Together with our finding on the higher ASXL2 expression in ERα-positive patients, we propose that ASXL2 could be a novel prognostic marker in breast cancer.				LSD1; UTX; MLL2	Binding	ASXL2 forms a complex with histone methylation modifiers including LSD1, UTX and MLL2, which all are recruited to the E2-responsive genes via ASXL2 and regulate methylations at histone H3 lysine 4, 9 and 27.	E2-bound ER α	regulation	Here, we observed that ASXL2 interacts with ligand E2-bound ERα and mediates ERα activation.
26023803	ASXL2	Overexpression	Rectal Carcinoma	Real time PCR confirmed that XRCC3 is overexpressed in responders group and HFM1 and ASXL2 showed a positive trend.									
24973361	ASXL2	Mutation	Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1	ASXL2 mutations were similarly frequent in adults and children t(8;21) and were mutually exclusive with ASXL1 mutations.				ASXL1	Mutual exclusive mutation	ASXL2 mutations were similarly frequent in adults and children t(8;21) and were mutually exclusive with ASXL1 mutations.			
23736028	ASXL2	Mutation	Prostate Carcinoma; Pancreatic Carcinoma; Breast Carcinoma; Adult T-cell Leukemia/Lymphoma	Truncation mutations of ASXL1 occur in colorectal cancers with microsatellite instability (MSI), malignant myeloid diseases, chronic lymphocytic leukaemia, head and neck squamous cell carcinoma, and liver, prostate and breast cancers; those of ASXL2 occur in prostate cancer, pancreatic cancer and breast cancer and those of ASXL3 are observed in melanoma. EPC1-ASXL2 gene fusion occurs in adult T-cell leukaemia/lymphoma.				EPC1	Fusion	EPC1-ASXL2 gene fusion occurs in adult T-cell leukaemia/lymphoma.			
19484761	ASXL2	Overexpression	Adult T-cell Leukemia/Lymphoma	Overexpression of EPC1/ASXL2 enhanced cell growth in T-leukemia cells, and a GAL4-EPC1/ASXL2 fusion protein showed high transcriptional activity.				GAL4-EPC1	Fusion	Overexpression of EPC1/ASXL2 enhanced cell growth in T-leukemia cells, and a GAL4-EPC1/ASXL2 fusion protein showed high transcriptional activity.			
15138607	ASXL2	Mutation	Myelodysplastic Syndrome	Exons 2-13 of the ASXL2 gene are fused to exons 1-14 of the MYST3 gene in a case of therapy-related myelodysplastic syndrome due to t(2;8)(p23.3;p11.2).				MYST3	Fusion	Exons 2-13 of the ASXL2 gene are fused to exons 1-14 of the MYST3 gene in a case of therapy-related myelodysplastic syndrome due to t(2;8)(p23.3;p11.2).			
20843307	TFIIIC	Overexpression	Nasopharyngeal Carcinoma	In vivo studies confirm elevated levels of the 102 kD subunit of TFIIIC in the tumour cells of EBV-positive nasopharyngeal carcinoma biopsies.									
16322899	TFIIIC	Overexpression	Breast Carcinoma	Resistant tumors expressed gene promoting transcription (GTF3C1, ILF3), differentiation (ST14, CTNNBIP1), signal transduction (EIF1AX, EIF4EBP1), and amino acid metabolism (SRM, PLOD1, PLOD3).									
21900057	MLLT6	Mutation	Acute Myeloid Leukemia	In the 19 AML patients with acute myeloblastic leukemia, 31.6% of all characterized MLL fusion genes were MLL/MLLT3, 21.1% MLL/ELL, 10.5% MLL/MLLT6 and 10.5% MLL/EPS15.				MLL	Fusion	In the 19 AML patients with acute myeloblastic leukemia, 31.6% of all characterized MLL fusion genes were MLL/MLLT3, 21.1% MLL/ELL, 10.5% MLL/MLLT6 and 10.5% MLL/EPS15.			
21129247	MLLT6	Mutation	Acute Myeloid Leukemia	For 126 patients with de novo AML-M4/M5 without common chromosome translocations including t(15;17), t(8;21) and t(16;16), 3 parallel multiplex RT-PCR assays were set up to detect 6 mll-related gene rearrangements (mll/af10, mll/af17, mll/ell, mll/af9, mll/af6 and mll/enl) with low detection rate and 4 rare fusion genes (dek/can, tls/erg, aml1/mds (evi1) and npm/mlf1).				MLL	Fusion	For 126 patients with de novo AML-M4/M5 without common chromosome translocations including t(15;17), t(8;21) and t(16;16), 3 parallel multiplex RT-PCR assays were set up to detect 6 mll-related gene rearrangements (mll/af10, mll/af17, mll/ell, mll/af9, mll/af6 and mll/enl) with low detection rate and 4 rare fusion genes (dek/can, tls/erg, aml1/mds (evi1) and npm/mlf1).			
16897742	MLLT6	Mutation	Acute Myeloid Leukemia	At present, two genes are known in 11q23 and four in 17q12-25 that generate five distinct fusion genes: MLL-MLLT6/AF17, MLL-LASP1, MLL-ACACA or MLL-SEPT9/MSF, and ZBTB16/PLZF-RARA.				MLL	Fusion	At present, two genes are known in 11q23 and four in 17q12-25 that generate five distinct fusion genes: MLL-MLLT6/AF17, MLL-LASP1, MLL-ACACA or MLL-SEPT9/MSF, and ZBTB16/PLZF-RARA.			
16105757	MLLT6	Mutation	Acute Myeloid Leukemia with t(11;17)(q23;q21)	Identification of a chromosomal breakpoint and detection of a novel form of an MLL-AF17 fusion transcript in acute monocytic leukemia with t(11;17)(q23;q21).				MLL	Fusion	Identification of a chromosomal breakpoint and detection of a novel form of an MLL-AF17 fusion transcript in acute monocytic leukemia with t(11;17)(q23;q21).			
11522623	MLLT6	Mutation	Acute Myeloid Leukemia with t(11;17)(q23;q21); Colorectal Carcinoma	In the experiments reported here, analysis by cDNA microarray indicated that AF17, a fusion partner of the MLL gene in acute leukemias with t(11;17)(q23;q21), was transactivated according to accumulation of beta-catenin. Expression of AF17 was significantly enhanced in 8 of the 12 colorectal cancer tissues examined.	Beta-catenin; T-cell factor pathway	Positive regulation	Identification of AF17 as a downstream gene of the beta-catenin/T-cell factor pathway and its involvement in colorectal carcinogenesis. In the experiments reported here, analysis by cDNA microarray indicated that AF17, a fusion partner of the MLL gene in acute leukemias with t(11;17)(q23;q21), was transactivated according to accumulation of beta-catenin.						
10485469	MLLT6	Mutation	Acute Myeloid Leukemia with t(11;17)(q23;q21)	The t(11;17) has been described in patients with acute myeloid leukemia (AML), and the AF17 gene was previously cloned as a fusion partner of the MLL gene in t(11;17)(q23;q21)-AML.				MLL	Fusion	The t(11;17) has been described in patients with acute myeloid leukemia (AML), and the AF17 gene was previously cloned as a fusion partner of the MLL gene in t(11;17)(q23;q21)-AML.			
8946209	MLLT6	Mutation	Acute Myeloid Leukemia with t(10;11)(p12;q23); Acute Myeloid Leukemia with t(11;17)(q23;q21)	The genes AF10 and AF17 have been identified as the basis of the t(10;11) and t(11;17) translocations, events that result in their fusion to the MLL/HRX gene in acute myeloid leukaemias.				MLL	Fusion	The genes AF10 and AF17 have been identified as the basis of the t(10;11) and t(11;17) translocations, events that result in their fusion to the MLL/HRX gene in acute myeloid leukaemias.			
8058765	MLLT6	Mutation	Acute Leumemia	Leucine-zipper dimerization motif encoded by the AF17 gene fused to ALL-1 (MLL) in acute leukemia.				ALL-1 (MLL)	Fusion	Leucine-zipper dimerization motif encoded by the AF17 gene fused to ALL-1 (MLL) in acute leukemia.			
25499959	CBX3	Mutation	Gastric Cardia Adenocarcinoma	Moreover, we firstly discovered 3 fusion genes in GCA, including BMX-ARHGAP, LRP5- LITAF and CBX3-C15orf57.				C15orf57	Fusion	Moreover, we firstly discovered 3 fusion genes in GCA, including BMX-ARHGAP, LRP5- LITAF and CBX3-C15orf57.			
24751108	CBX3	Overexpression	Non-small Cell Lung Carcinoma	CBX3 and CRABP2 expression was markedly increased in lung cancer tissues and especially CRABP2 may be promising candidate genes in lung adenocarcinoma.									
24402692	CBX3	Underexpression	Cervical Carcinoma	The strong positive expressions of Twist in the SCC groups with or without lymph node metastasis were 80.8% and 50%. For CBX3, such expressions were 7.7% and 29.5%, respectively. Results also showed that the expression of Twist was inversely correlated with that of CBX3.				Twist	Negative correlation	Results also showed that the expression of Twist was inversely correlated with that of CBX3. Moreover, the knockdown of Twist with target siRNA in SiHa triggered the induction of the chromatin marker of the cellular senescence CBX3 and senescence-associated β-galactosidase activity.			
22870217	CBX3	Overexpression	Osteosarcoma	In addition, consistently higher CBX3 expression in TSC-enriched osteosarcoma cultures was identified.									
25961350	CBX3	Overexpression	Breast Carcinoma	This is accompanied by upregulation of noncoding RNA (ncRNA) elements including X2-inactive specific transcript (XIST) and chromatin remodeling genes, such as chromodomain helicase DNA-binding protein 2 (CHD2) and the chromobox homolog 3 (CBX3), whose products are required for controlling recruitment of protein/protein or DNA/protein interactions.									
25537518	SUV420H1	genetic alteration	Breast Carcinoma	Integrative analysis identified 8 HMTs (SETDB1, SMYD3, ASH1L, SMYD2, WHSC1L1, SUV420H1, SETDB2, and KMT2C) that are dysregulated by genetic alterations, classifying them as candidate therapeutic targets.									
25537518	ASH1L	Copy number gain	Breast Carcinoma	Among the eight most frequently amplified HMTs (totaling more than 5% of 958 samples), the frequencies of ASH1L, SETDB1, and SMYD3 amplification were dramatically higher in basal-like breast cancer, with more than 25% of tumors exhibiting high-level amplification compared with the other three subtypes.									
26207381	TDG	Underexpression	Early-Stage Breast Carcinoma	Reduced Expression of TET1, TET2, TET3 and TDG mRNAs Are Associated with Poor Prognosis of Patients with Early Breast Cancer.									
24748645	TDG	Overexpression	Colon Carcinoma	Moreover, there is an elevation of TDG levels in human colon cancer tissue, and knockdown of TDG inhibits proliferation of the colon cells.							β-catenin/TCFs	Positive regulation	Our data show that TDG binds to the transcriptional factor family LEF1/TCFs and potentiates β-catenin/TCFs transactivation, while TDG depletion suppresses Wnt3a-stimulated reporter activity or target gene transcription.
24532795	TDG	Overexpression	Colorectal Carcinoma	Thymine DNA glycosylase is a positive regulator of Wnt signaling in colorectal cancer.							Wnt signaling	Positive regulation	While screening a panel of DNA demethylases, we found that thymine DNA glycosylase (TDG) up-regulated Wnt signaling.
24096364	TDG	Overexpression	All Cancers except Kidney Carcinoma	We observed a very strong inverse correlation between miR-29a and TDG across all cancer types except kidney cancer, and TET1 expression was strongly negatively correlated with miR-29 family members in all cancer types. miR-29a was generally downregulated, andTET1andTDGwere generally upregulated, in tumors of most cancer types as compared with representative normal samples				miR-29a	Negative correlation	We observed a very strong inverse correlation between miR-29a andTDGacross all cancer types except kidney cancer, andTET1expression was strongly negatively correlated with miR-29 family members in all cancer types.			
23504502	TDG	SNP	Esophageal Squamous Cell Carcinoma	Another 11 genes, includingSMUG1,TDG,TP53,GTF2H3,FEN1,POLQ,HEL308,RAD54B,MPG,FANCEandBRCA1, were significant in the combined data (P< 0.05) and had ORs of the most significant SNPs in the same direction in both the Shanxi and NIT data.									
22875744	TDG	altered expression	Breast Carcinoma	These included five genes (BRCA1, MRE11A, NBS1, TDG, and XPA) whose transcript levels were associated with resistance and two genes (CHEK2 and MK2) whose transcript levels were associated with sensitivity.									
22608206	TDG	loss of expression (mutation)	Rectal Carcinoma	Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency. We identified a heterozygous missense mutation in TDG, which was associated with TDG protein loss in the tumor.									
22581838	TDG	SNP	Skin Carcinoma	The two top-ranked SNPs were both within the thymine DNA glycosylase gene (TDG).									
10360221	TDG	Underexpression	Pancreatic Ductal Adenocarcinoma	Abnormality of the thymine-DNA glycosylase (TDG) gene on 12q22-q24.1 appears to play a limited role in pancreatic ductal carcinogenesis. Decreased levels of mRNA expression were detected in the pancreatic cancer cell lines, but no somatic mutations were observed.									
27177225	HDAC5	Overexpression	Breast Carcinoma	HDAC5 was extensively expressed in human BC tissues, and high HDAC5 expression was associated with an inferior prognosis.									
26993777	HDAC5	Overexpression	Hepatocellular Carcinoma	We found that HDAC5 was upregulated in HCC tissues compared to adjacent normal tissues, and this was correlated with reduced patient survival.	AR-42	Negative regulation	We demonstrated that AR-42 can inhibit the deacetylation activity of HDAC5 and its downstream targets in vitro and in vivo.						
26747087	HDAC5	Overexpression	Melanoma	In this study, and found that HDAC5 and HDAC6 were highly expressed in melanoma cells but exhibited low expression levels in normal skin cells.									
26131280	HDAC5	Overexpression	Colorectal Carcinoma	In the current research, our data showed that the mRNA and protein levels of HDAC5 were up-regulated in human colorectal cancer cell lines.							DLL4	Positive regulation	At the molecular level, we demonstrated that HDAC5 promoted the expression of DLL4.
25791281	HDAC5	Underexpression	Glioma	Among all patients studied, the expression of HDAC1 and HDAC3 was inversely correlated with survival, whereas the expression of HDAC4, HDAC5, HDAC6, HDAC11 and SIRT1 was significantly and positively correlated with survival time of patients with gliomas.									
25482492	HDAC5	Overexpression	Plasma Cell Myeloma	In HMCL, HDAC1-3 and 8 (Class I), and HDAC5 and HDAC10 (Class II) were significantly upregulated compared to normal PC.									
25129440	HDAC5	Overexpression	Hepatocellular Carcinoma	The present study reported that the mRNA and protein levels of HDAC5 were up-regulated in human hepatocellular carcinoma (HCC) tissues and cells as shown by quantitative real-time PCR and Western blot.									
25050565	HDAC5	Overexpression	Glioma	In the present study, we found that the mRNA and protein levels of HDAC5 are increased in human glioma tissues and cell lines. Taken together, these results demonstrated, for the first time to the best of our knowledge, that HDAC5 promotes glioma cell proliferation, and suggest that this effect involves the upregulation of Notch 1.							Notch1	Positive regulation	Furthermore, we demonstrated that HDAC5 enhances Notch 1 expression at both the mRNA and the protein level in glioma cell lines. Taken together, these results demonstrated, for the first time to the best of our knowledge, that HDAC5 promotes glioma cell proliferation, and suggest that this effect involves the upregulation of Notch 1.
24706304	HDAC5	Overexpression	Hepatocellular Carcinoma	The mRNA and protein levels of HDAC5 were up-regulated in human HCC cell lines. The current study demonstrated for the first time that HDAC5 promoted HCC cell proliferation through up-regulation of Six1 expression and might provide novel therapeutic targets in the treatment of HCC.							Six1	Positive regulation	Furthermore, we found that HDAC5 promoted the Six1 expression both at the mRNA and protein levels in HCC cell lines. The current study demonstrated for the first time that HDAC5 promoted HCC cell proliferation through up-regulation of Six1 expression and might provide novel therapeutic targets in the treatment of HCC.
24092570	HDAC5	Overexpression	Osteosarcoma	We found that mRNA and protein levels of HDAC5 were upregulated in osteosarcoma tissues and cell lines.						 	Twist 1	Positive regulation	At the molecular level, we demonstrated that HDAC5 promoted mRNA expression of twist 1, which has been reported as an oncogene.
26224097	PRMT2	altered expression	Ovarian Carcinoma	Ingenuity Pathway Analysis indicated that transcripts for chromatin-remodeling enzymes associated with reproductive system disease and cancer development were abnormally regulated, most prominently the arginine methyltransferases CARM1, PRMT2, and PRMT8.									
26224097	CARM1	Underexpression	Endometriosis	Downregulation of CARM1 protein expression was also detected in the ovary, fully-grown oocytes and eutopic endometrium following 15 months of endometriosis.									
23724067	HDAC5	Overexpression	Colorectal Carcinoma	We found HDAC1, HDAC2, HDAC3, HDAC5, and HDAC7 all to be up-regulated in the field of human CRC.									
22944197	HDAC5	Underexpression	Urothelial Carcinoma	In urothelial cancer, up-regulation of HDAC2 and HDAC8 and down-regulation of HDAC4, HDAC5, and HDAC7 mRNA are common findings.									
22322234	HDAC5	Overexpression (copy number gain)	Hepatocellular Carcinoma	Upregulation of HDAC3 and HDAC5 mRNAs was significantly correlated with DNA copy number gains. Aberrant expression of several HDACs and copy number gains of HDAC3 and HDAC5 occur in HCC.									
21508384	HDAC5	Hypermethylation	Astrocytoma	Significantly increased methylation of the HDAC5 gene was observed in astrocytomas when compared to non-neoplastic brain samples (p=0.0007) and to glioblastomas cell lines (p=0.001).									
20636436	HDAC5	Overexpression	B Acute Lymphoblastic Leukemia	HDAC1 and HDAC4 showed high expression in T-ALL and HDAC5 was highly expressed in B-lineage ALL.									
20559690	HDAC5	Overexpression	Gastric Carcinoma	Using cDNA microarray analysis, we found that hepatocyte growth factor (HGF) induced HDAC5 expression in gastric cancer cell lines, NUGC-3 and MKN-28.	HGF; GO6976	Positive regulation; Negative regulation	Using cDNA microarray analysis, we found that hepatocyte growth factor (HGF) induced HDAC5 expression in gastric cancer cell lines, NUGC-3 and MKN-28. Furthermore, GO6976, a PKC inhibitor, significantly inhibited not only HGF-induced HDAC5 expression but also cell invasion.						
20519629	HDAC5	Overexpression	Waldenstrom Macroglobulinemia	We found that restoring miRNA-9* levels induced toxicity in WM cells, supported by down-modulation of HDAC4 and HDAC5 and up-regulation of acetyl-histone-H3 and -H4.				miRNA-9*	Negative correlation	We found that restoring miRNA-9* levels induced toxicity in WM cells, supported by down-modulation of HDAC4 and HDAC5 and up-regulation of acetyl-histone-H3 and -H4.			
20413433	HDAC5	Overexpression	Medulloblastoma	HDAC5 and HDAC9 are significantly upregulated in high-risk medulloblastoma in comparison with low-risk medulloblastoma, and their expression is associated with poor survival.									
20128820	HDAC5	Overexpression	Pancreatic Carcinoma	Therefore, in some pancreatic cancers, continuous ORP5 expression enhances the cholesterol synthesis pathway and this signal transduction regulates phosphatase and tensin homolog through HDAC5 expression.	SREBP2	Regulation	ChIP using SREBP2 antibody revealed that histone deacetylase 5 (HDAC5) was one of the downstream genes of SREBP2.						
16121216	HDAC5	Underexpression	Acute Myeloid Leukemia	HDAC5 and SIRT4 were consistently underexpressed.									
12124339	HDAC5	Underexpression	Colon Carcinoma	Quantitative real-time reverse transcription-PCR showed that the mRNA expression levels of 2 antigens, HDAC5 and Seb4B, were down-regulated in colon cancer, 2 other antigens, KNSL6 and KIAA1416, were up-regulated, and another antigen, NY-CO-45, showed a variable level of mRNA expression in colon cancer.									
26268241	IDH2	Mutation	Angioimmunoblastic T-Cell Lymphoma	We performed targeted resequencing on 92 cases of PTCL and identified frequent mutations affecting RHOA, TET2, DNMT3A, and isocitrate dehydrogenase 2 (IDH2). Although IDH2 mutations are largely confined to AITL, mutations of the other 3 can be found in other types of PTCL, although at lower frequencies. Ectopic expression of IDH2(R172K) in the Jurkat cell line and CD4(+) T cells led to markedly increased levels of 2-hydroxyglutarate, histone-3 lysine methylation, and 5-methylcytosine and a decrease of 5-hydroxymethylcytosine.							2HG; Histone-3 lysine methylation; 5-methylcytosine	Positive regulation	Ectopic expression of IDH2(R172K) in the Jurkat cell line and CD4(+) T cells led to markedly increased levels of 2-hydroxyglutarate, histone-3 lysine methylation, and 5-methylcytosine and a decrease of 5-hydroxymethylcytosine.
26292256	ASH1L	Overexpression; copy number gain;  mutation	Breast Carcinoma; Thyroid Gland Carcinoma; Lung Carcinoma; Cervical Carcinoma	In breast cancer, 27 percent of aggressive, basal-like breast cancers have high-level copy number amplifications of theASH1Lgene. Moreover, high levels of ASH1L mRNA are associated with shorter survival in breast cancer patients. In thyroid cancer, ASH1L is overexpressed in tumor-specific truncated forms and is downregulated by a tumor suppressor microRNA. Amplifications of ASH1L are found in a variety of other tumors, such as lung and uterine cancer, while mutations in ASH1L have been identified in gastric cancer, colorectal cancer, esophageal squamous cell cancer, and lung cancer.									
25613071	ING2	Underexpression	Skin Basal Cell Carcinoma	It was detected that ING2 mRNA expression level decreased in tumoral tissues when compared to non-tumoral tissues from BCC patients (p=0.0001).									
25190103	ING2	Underexpression	Osteosarcoma	In the present study, we confirmed that the levels of ING2 mRNA and protein were lower in cancer tissues than these levels in normal tissues. Loss of nuclear ING2 protein was significantly associated with a decreased survival time of patients.									
24712846	ING2	Underexpression	Non-small Cell Lung Carcinoma; Adenocarcinoma; Squamous Cell Carcinoma	Decreased expression of ING2 gene and its clinicopathological significance in Chinese NSCLC patients. The IHC results showed that ING2 protein expression was significantly decreased in NSCLC samples compared with normal lung tissues (P<O.OS). ING2 expression was lost in 32.8%(21/64) NSCLC tissues, which was more frequently in adenocarcinoma (ADK) than in squamous cell carcinoma (SCC), 45.8%(11124) and 26.3% (10/38), respectively.									
19962781	ING2	Loss of expression	Non-small Cell Lung Carcinoma	Expression of candidate tumor suppressor gene ING2 is lost in non-small cell lung carcinoma.									
19437536	ING2	Overexpression	Colon Carcinoma	ING2 is upregulated in colon cancer and increases invasion by enhanced MMP13 expression.							MMP13	Positive regulation	Subsequent microarray analyses revealed that ING2 upregulates expression of matrix metalloproteinase 13 (MMP13), which enhances cancer invasion and metastasis.
19432890	ING2	Overexpression	Colon Carcinoma	Our recent results showed that ING2 is overexpressed in colorectal cancer, and induces colon cancer cell invasion through an MMP13-dependent pathway.									
18998165	ING2	Mutation	Head and Neck Squamous Cell Carcinoma	The high percentage of LOH suggests ING2 as a candidate TSG in HNSCC.									
18160212	ING2	Underexpression	Hepatocellular Carcinoma	Decreased expression of ING2 gene and its clinicopathological significance in hepatocellular carcinoma. Using reverse transcription-polymerase chain reaction (RT-PCR) and Western blot, ING2 transcription and post-transcription level was found to be downregulated in the majority of tumors compared with matched non-tumors liver tissues (p=0.004 and p=0.014, respectively). The immunohistochemistry data indicated significant reduction of ING2 expression level in 44 of 84 (52.4%) HCC cases.									
16755297	ING2	Underexpression	Cutaneous Melanoma	Nuclear ING2 expression is reduced in human cutaneous melanomas. Taken together, our results suggest that nuclear ING2 expression is significantly reduced in human melanomas and that reduced ING2 may be an important molecular event in the initiation of melanoma development.									
16465410	ING2	Underexpression	Lung Carcinoma	ING1 expression was up-regulated in all 7 lung cancer cell lines that had a p53 mutation, while the expression of ING2 was down-regulated in 6 of 7 lung cancer cell lines that had a p53 mutation.									
15005689	ING2	Mutation	Basal Cell Carcinoma	Loss of heterozygosity on chromosome 4q32-35 in sporadic basal cell carcinomas: evidence for the involvement of p33ING2/ING1L and SAP30 genes. Further analyses indicate that the minimal deleted region in 4q32-35 includes p33ING2/ING1L and SAP30, whose deletion could impair the G1-phase checkpoint control and favor gene silencing, respectively.									
10072587	ING2	Overexpression	Breast Carcinoma	Both ING1 and ING1L are expressed in a variety of human tissues, but we found ING1L expression to be significantly more pronounced in tumors from several colon-cancer patients than in normal colon tissues excised at the same surgical sites.									
27672107	RSF1	copy number gain	Breast Carcinoma	Genomic analysis of P tumors revealed somatic mutations in PIK3CA, KRAS, AKT1, FGFR3, HRAS and BRAF at frequencies of 41%, 6%, 5%, 2%, 1% and 2%, respectively, and CN amplification of CCND1, ZNF703, FGFR1, RSF1 and PAK1 at 23%, 19%, 17%, 12% and 11%, respectively.									
25337201	RSF1	Overexpression	Breast Carcinoma	Overexpression of Rsf-1 correlates with pathological type, p53 status and survival in primary breast cancer.									
24798976	RSF1	Overexpression	Hepatocellular Carcinoma	In the present study, we analyzed the expression pattern of Rsf-1 in human HCC tissues and found that Rsf-1 was overexpressed in 41.1 % of HCC specimens.									
24584698	RSF1	Overexpression	Prostate Carcinoma	Rsf-1 overexpression in human prostate cancer, implication as a prognostic marker. In conclusion, Rsf-1 is overexpressed in human prostate cancers and serves as a novel prognostic marker.									
24566868	RSF1	Overexpression; copy number gain	Ovarian Carcinoma	Overexpression or amplification of the RSF1 gene has been associated with poor prognosis in various human cancers, including ovarian cancer. In previous work, RSF1 was identified as an amplified gene that facilitated the development of paclitaxel-resistant ovarian cancer.				NF-κB; CREBBP; hSNF2H	Binding	A coimmunoprecipitation assay revealed that RSF1 interacts with NF-κB and CREB-binding protein, a ubiquitous coactivator for NF-κB. Furthermore, hSNF2H, a well-known binding partner of RSF1, was partially involved in the interaction between RSF1 and NF-κB.			
24367492	RSF1	copy number gain	Breast Carcinoma	The RSF1 (remodeling and spacing factor 1) gene is frequently co-amplified with CCND1 on chromosome 11q. CCND1 gene amplification was observed in 8.7% and RSF1 in 6.8% of these patients, preferentially in estrogen receptor-positive breast cancers. Unlike CCND1 amplification, RSF1 amplification may predict for outcome in high-risk premenopausal breast cancer patients treated with adjuvant tamoxifen.									
23456648	RSF1	Copy number gain	Lung Carcinoma	Hepatitis B virus x associated protein (HBXAP), as a subunit of chromatin remodeling and spacing factor, plays a critical role in cancer development through gene amplification. We found that serum HBXAP DNA levels in lung cancer patients were higher compared to healthy controls (u = 219.0, p = 0.001) and were closely associated with TNM stage and lymph node metastasis (p = 0.015 and p = 0.016, respectively).									
23378270	RSF1	copy number gain	Ovarian Carcinoma	Chromosome 11q13.5 containing RSF1 (HBXAP), a gene involved in chromatin remodelling, is amplified in several human cancers including ovarian carcinoma. Ectopic expression of Rsf-1 and cyclin E1 in non-tumourigenic TP53(mut) RK3E cells led to an increase in cellular proliferation and tumour formation by activating cyclin E1-associated kinase (CDK2).				Cyclin E1	Binding	The above findings suggest that Rsf-1 interacts and collaborates with cyclin E1 in neoplastic transformation and TP53 mutations are a prerequisite for tumour-promoting functions of the RSF/cyclin E1 complex.			
22977663	RSF1	Overexpression	Gastric Adenocarcinoma	Immunohistochemical staining indicated that RSF-1 is highly expressed in 52.6% of gastric adenocarcinomas. Kaplan-Meier survival analysis showed that high RSF-1 expression exhibited a significant correlation with poor prognosis for gastric adenocarcinoma patients.									
22685262	RSF1	Overexpression	Bladder Urothelial Carcinoma	Rsf-1/HBXAP overexpression is independent of gene amplification and is associated with poor outcome in patients with urinary bladder urothelial carcinoma. Rsf-1 overexpression was demonstrated in 101 cases (34.2%), and was significantly associated with advanced primary tumour (p<0.001), nodal metastasis (p=0.004), higher histological grades (p=0.001) and frequent mitoses (p<0.001). Overexpression of Rsf-1 is associated with higher tumour stage and poorer clinical outcome.									
22569540	RSF1	Overexpression	Rectal Carcinoma	Present in 82 cases (47.7%), high-expression of Rsf-1 was associated with advanced pre-treatment tumour status (T3, T4, p=0.020), advanced post-treatment tumour status (T3, T4, p<0.001) and inferior tumour regression grade (p=0.028). High-expression of Rsf-1 is associated with poor therapeutic response and adverse outcome in rectal cancer patients treated with neoadjuvant CRT, which confers tumour aggressiveness and therapeutic resistance through chromatin remodelling and represents a potential prognostic biomarker in rectal cancer.									
22528946	RSF1	Overexpression	Colon Carcinoma	Rsf-1 overexpression correlates with poor prognosis and cell proliferation in colon cancer. Furthermore, Rsf-1 overexpression correlated with a poor prognosis in colon cancer patients (p = 0.0011).							Cyclin E1; Phospho-Rb	Positive regulation	Further analysis showed that Rsf-1 knockdown decreased cyclin E expression and phospho-Rb level. In conclusion, Rsf-1 is overexpressed in colon cancers and contributes to malignant cell growth by cyclin E and phospho-Rb modulation, which makes Rsf-1 a candidate therapeutic target in colon cancer.
22387541	RSF1	Overexpression	Non-small Cell Lung Carcinoma	Rsf-1 is overexpressed in non-small cell lung cancers and regulates cyclinD1 expression and ERK activity. In the present study, we analyzed the expression pattern of Rsf-1 in NSCLC tissues and found that Rsf-1 was overexpressed at both the mRNA and protein levels.							Cyclin D1; Phospho-ERK	Positive regulation	Further analysis showed that Rsf-1 knockdown decreased cyclin D1 expression and phospho-ERK levels. In conclusion, Rsf-1 is overexpressed in NSCLC and contributes to malignant cell growth by cyclin D1 and ERK modulation, which makes Rsf-1 a candidate therapeutic target in lung cancer.
22081787	RSF1	Overexpression	Nasopharyngeal Carcinoma	Associations of Rsf-1 overexpression with poor therapeutic response and worse survival in patients with nasopharyngeal carcinoma. Present in 49 cases (45%), Rsf-1 overexpression was associated with N(2,3) status (p=0.016), American Joint Committee on Cancer stage 3, 4 (p=0.004), and incomplete therapeutic response (p=0.041).									
22028712	RSF1	Overexpression	Ovarian Serous Adenocarcinoma	DNA Damage Response is Prominent in Ovarian High-Grade Serous Carcinomas, Especially Those with Rsf-1 (HBXAP) Overexpression.									
21995635	RSF1	Overexpression	Gallbladder Carcinoma	Rsf-1/HBXAP overexpression is associated with disease-specific survival of patients with gallbladder carcinoma. The Rsf-1 overexpression, present in 61 cases (69.3%), was significantly associated with higher histological grades (p=0.002) and vascular invasion (p=0.037) and marginally with non-papillary histotypes (p=0.058). Our findings indicate that Rsf-1 overexpression is common and associated with adverse prognosticators in gallbladder carcinomas.									
21514451	RSF1	Overexpression	Oral Cavity Squamous Cell Carcinoma	Overexpression of a chromatin remodeling factor, RSF-1/HBXAP, correlates with aggressive oral squamous cell carcinoma. Univariate and multivariate analyses showed a significant association of RSF-1 overexpression and worse overall survival in OSCC patients. Taken together, our results suggest that RSF-1 up-regulation is associated with several clinicopathological features of disease aggressiveness in OSCC patients, and RSF-1 plays an important role in maintaining cellular growth and survival in OSCC.									
21131837	RSF1	Overexpression	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	In conclusion, a higher expression level of Rsf-1 is associated with advanced clinical stage and lymph node metastasis in CCC.									
20923775	RSF1	Overexpression (copy number gain)	Ovarian Serous Adenocarcinoma	Rsf-1 (HBXAP) has been reported as an amplified gene in human cancer, including the highly aggressive ovarian serous carcinoma. The above findings suggest that increased Rsf-1 expression and thus excessive RSF activity, which occurs in tumors harboring Rsf-1 amplification, can induce chromosomal instability likely through DDR.				SNF2H	Binding	Rsf-1 protein interacts with SNF2H to form an ISWI chromatin remodeling complex, RSF.			
20228782	RSF1	Overexpression	Serous Tubal Intraepithelial Carcinoma	Increased Rsf-1 and FASN immunoreactivity occurred in 63%, and 62% of STICs, respectively, compared with adjacent normal-appearing tubal epithelium. These results suggest that overexpression of Rsf-1, cyclin E and FASN occurs early in tumor progression.									
19190325	RSF1	Overexpression	Ovarian Carcinoma	We found that Rsf-1 was up-regulated in paclitaxel-resistant ovarian cancer cell lines, and Rsf-1 immunoreactivity in primary ovarian carcinoma tissues correlated with in vitro paclitaxel resistance.				hSNF2H	Binding	Rsf-1 has been known to interact with hSNF2H to form an ISWI chromatin remodeling complex.			
18519663	RSF1	Overexpression	Ovarian Carcinoma	Based on immunohistochemistry, we found that Rsf-1 and hSNF2H were co-upregulated in ovarian cancer tissues.				hSNF2H	Binding; Co-upregulated	Rsf-1 interacts with human sucrose nonfermenting protein 2 homologue (hSNF2H) to form a chromatin remodeling complex that participates in several biological processes. Based on immunohistochemistry, we found that Rsf-1 and hSNF2H were co-upregulated in ovarian cancer tissues.			
18314909	RSF1	copy number gain	Ovarian Carcinoma	Amplification of EMSY, PAK1, RSF1, and GAB2 were all highly correlated with each other and with a serous histology. In summary, amplification of these four putative oncogenes from 11q13 in early ovarian cancer is associated with a serous histology and in the case of EMSY and RSF1 a poor outcome.									
17351921	RSF1	copy number gain	Ovarian Serous Adenocarcinoma	Seven amplicons were selected for dual color fluorescence in situ hybridization analysis in approximately 90 high-grade serous carcinomas and 26 low-grade serous tumors, and a high level of DNA copy number gain (amplification) was found in CCNE1, Notch3, HBXAP/Rsf-1, AKT2, PIK3CA and chr12p13 occurring in 36.1%, 7.8%, 15.7%, 13.6%, 10.8% and 7.3% of high-grade serous carcinomas.									
16938522	RSF1	Overexpression (copy number gain)	Ovarian Serous Adenocarcinoma	Our previous study showed that Rsf-1 was an amplified gene that participated in the development of ovarian serous carcinoma. Thus, overexpression of Rsf-1 was significantly associated with high-grade ovarian serous carcinoma (P < .05), as compared with other types of ovarian tumors and breast carcinomas. Rsf-1 is frequently expressed and upregulated in ovarian carcinoma cells in effusions and is a novel prognostic marker for patients with post-chemotherapy recurrent disease.									
18289639	RSF1	Overexpression (copy number gain)	Ovarian Serous Adenocarcinoma	We recently identified Rsf-1, a chromatin-remodeling gene, as a potential oncogene that is frequently amplified and overexpressed in ovarian serous carcinoma, and demonstrated that its expression in carcinoma cells in effusions is associated with poor prognosis.									
16844205	RSF1	Overexpression	Ovarian Carcinoma	Rsf-1 is frequently expressed and upregulated in ovarian carcinoma cells in effusions and is a novel prognostic marker for patients with post-chemotherapy recurrent disease.									
16172393	RSF1	copy number gain	Ovarian Carcinoma	Amplification of a chromatin remodeling gene, Rsf-1/HBXAP, in ovarian carcinoma. Overexpression of Rsf-1 gene stimulated cell proliferation and transform nonneoplastic cells by conferring serum-independent and anchorage-independent growth.									
27569210	SMYD3	Overexpression	Breast Carcinoma	SMYD3-Mediated H2A.Z.1 Methylation Promotes Cell Cycle and Cancer Proliferation. Our findings suggest that SMYD3-mediated H2A.Z.1K101 dimethylation activates cyclin A1 expression and contributes to driving the proliferation of breast cancer cells.							Cyclin A1	Positive regulation	Our findings suggest that SMYD3-mediated H2A.Z.1K101 dimethylation activates cyclin A1 expression and contributes to driving the proliferation of breast cancer cells.
27554136	SMYD3	Overexpression	Hepatocellular Carcinoma; Colon Carcinoma; Lung Carcinoma; Pancreatic Carcinoma	SMYD3 is a member of the SET and MYND-domain family of methyl-transferases, the increased expression of which correlates with poor prognosis in various types of cancer. In liver and colon tumors, SMYD3 is localized in the nucleus, where it interacts with RNA Pol II and H3K4me3 and functions as a selective transcriptional amplifier of oncogenes and genes that control cell proliferation and metastatic spread. In lung and pancreatic cancer, SMYD3 acts in the cytoplasm, potentiating oncogenic Ras/ERK signaling through the methylation of the MAP3K2 kinase and the subsequent release from its inhibitor.									
27066749	SMYD3	Overexpression	Colorectal Carcinoma; Breast Carcinoma; Prostate Carcinoma; Hepatocellular Carcinoma	SMYD3 is a lysine methyltransferase overexpressed in colorectal, breast, prostate, and hepatocellular tumors, and has been implicated as an oncogene in human malignancies.	GSK2807	Negative regulation	These insights allowed for the design of GSK2807, a potent and selective, SAM-competitive inhibitor of SMYD3 (Ki= 14nM).						
26980013	SMYD3	Overexpression	Esophageal Squamous Cell Carcinoma	Increased expression of SMYD3 was found to be associated with lymph node metastasis in ESCC (P = .036) and was an independent prognostic factor for poor overall survival (P = .025).							EZR; LOXL2	Positive regulation	SMYD3 stimulates EZR and LOXL2 transcription to enhance proliferation, migration, and invasion in esophageal squamous cell carcinoma.
26790435	SMYD3	Overexpression	Chronic Lymphocytic Leukemia	We found that SMYD2 and SMYD3 are overexpressed in CLL patients and, interestingly, patients with residual expression of both genes presented a high WBC count and complex karyotype.									
26676636	SMYD3	copy number gain	Bladder Carcinoma	Here, we report that SMYD3 frequently amplified in bladder cancer is correlated with bladder cancer progression and poor prognosis. Overexpression of SMYD3 promotes bladder cancer cell proliferation and invasion, whereas SMYD3 knockdown inhibits cancer cell growth and invasion. We further show that SMYD3 overexpression in bladder cancer cells promotes autophagy activation, whereas BCLAF1 depletion inhibits SMYD3-induced autophagy.							BCLAF1	Positive regulation	Mechanically, SMYD3 positively regulates the expression of BCL2-associated transcription factor 1 (BCLAF1). SMYD3 physically interacts with the promoter of BCLAF1 and upregulates its expression by accumulating di- and trimethylation of H3K4 at the BCLAF1 locus.
26328527	SMYD3	Overexpression	Gastric Carcinoma; Breast Carcinoma; Glioma	SMYD3 activates the transcription of oncogenes and cell cycle genes in gastric and breast cancer cells. We found that SMYD3 was overexpressed in human glioma but not in normal brain tissue.									
26077602	SMYD3	Overexpression	Gastric Carcinoma	The messenger RNA and protein expression levels of SMYD3 and TGF-β1 in GC tissues were significantly higher than those in adjacent nontumor tissues. High expression levels of SMYD3 and TGF-β1 can indicate poor prognoses for GC patients.				TGF-β1	Positive correlation	A significantly positive correlation was found between SMYD3 expression and TGF-β1 expression in GC tissues.			
25728514	SMYD3	Overexpression	Colorectal Carcinoma	We studied the expression and activity of SMYD3 in a preclinical model of colorectal cancer (CRC) and found that it is strongly upregulated throughout tumorigenesis both at the mRNA and protein level.									
25627005	SMYD3	Overexpression	Gastric Carcinoma	Overexpression of SMYD3 and matrix metalloproteinase-9 are associated with poor prognosis of patients with gastric cancer. The messenger RNA (mRNA) and protein expression levels of SMYD3 and MMP-9 in gastric cancer tissues were both significantly higher than those in adjacent nontumor tissues.				MMP-9	Positive correlation	SMYD3 expression and MMP-9 expression in GC tissues were significantly and positively correlated.			
25472580	SMYD3	Overexpression	Gastric Carcinoma	SMYD3 overexpression was a risk factor in the biological behavior and prognosis of gastric carcinoma. SMYD3 mRNA and protein expression levels were higher in GC cell lines MKN28, SGC7901, and MGC803 than normal gastric mucosa cell line GES-1.									
25471787	SMYD3	Overexpression	Gastric Carcinoma	Overexpression of SMYD3 was associated with increased STAT3 activation in gastric cancer. The mRNA expression levels of SMYD3 or STAT3 and the protein expression levels of SMYD3, STAT3, or pSTAT3 in GC tissues were significantly higher than those in adjacent non-tumor tissues. High SMYD3 and pSTAT3 expressions may indicate poor prognosis of patients with GC.				STAT3; pSTAT3	Positive correlation	SMYD3 expression and STAT3 or pSTAT3 expressions in GC tissues were significantly and positively correlated.			
25382779	SMYD3	Overexpression	Pancreatic Intraepithelial Neoplasia	SMYD3 is up-regulated in different types of tumours. Furthermore, depletion of SMYD3 synergises with a MEK inhibitor, currently in clinical trials, to block Ras-driven pancreatic neoplasia.									
24200674	SMYD3	Overexpression	Prostate Carcinoma	SMYD3, SUV39H2, PRMT6, KDM5A, and KDM6A were upregulated, whereas KMT2A-E (MLL1-5) and KDM4B were downregulated in PCa, compared with normal prostate tissues.									
24189459	SMYD3	Overexpression	Breast Carcinoma	Overexpression of SMYD3 promotes MRTF-A-mediated upregulation of MYL9 and migration of MCF-7 breast cancer cells, while contrary results were observed when the endogenous MRTF-A and SMYD3 were suppressed with specific siRNAs.							MYL9	Positive regulation	Overexpression of SMYD3 promotes MRTF-A-mediated upregulation of MYL9 and migration of MCF-7 breast cancer cells, while contrary results were observed when the endogenous MRTF-A and SMYD3 were suppressed with specific siRNAs.
24174655	SMYD3	Overexpression	Prostate Carcinoma	The upregulation of SMYD3 protein expression was observed in seven of eight prostate tumor specimens, compared with matched normal tissues. SMYD3 promotes prostate tumorigenesis and mediates epigenetic upregulation of AR expression.							AR	Positive regulation	SMYD3 promotes prostate tumorigenesis and mediates epigenetic upregulation of AR expression.
23285160	SMYD3	Overexpression	Prostate Carcinoma	In addition, we observed strong SMYD3 expression in the prostate cancer cell line LNCaP and its inhibition led to decreased 15-LOX-1 expression.							15-LOX-1	Positive regulation	In addition, we observed strong SMYD3 expression in the prostate cancer cell line LNCaP and its inhibition led to decreased 15-LOX-1 expression.
22819820	SMYD3	Overexpression	Intrahepatic Cholangiocarcinoma	Over-expression of miR-124 suppressed cell migration and invasion in vitro, and reduced the protein levels of SMYD3 and downstream target genes (c-Myc and MMP9). In conclusion, our studies indicate that low miR-124 levels mediated by HCVc via DNMT1 promote ICC cell migration and invasion by targeting SMYD3.	miR-124	Negative regulation	Over-expression of miR-124 suppressed cell migration and invasion in vitro, and reduced the protein levels of SMYD3 and downstream target genes (c-Myc and MMP9). In conclusion, our studies indicate that low miR-124 levels mediated by HCVc via DNMT1 promote ICC cell migration and invasion by targeting SMYD3.						
22406368	SMYD3	Overexpression	Hepatocellular Carcinoma	Expression of H3K4me3 and SMYD3 were enhanced in HCC cell lines.									
21450690	SMYD3	Overexpression	Hilar Cholangiocarcinoma	Hepatitis C virus core upregulates the methylation status of the RASSF1A promoter through regulation of SMYD3 in hilar cholangiocarcinoma cells. Transfection of HCVc into hilar cholangiocarcinoma cell lines QBC939 and FRH0201 could upregulate the expression of SMYD3 and promote cell growth, which was consistent with the results of our clinical research.									
20957523	SMYD3	Overexpression	Breast Carcinoma	Effects of SMYD3 over-expression on cell cycle acceleration and cell proliferation in MDA-MB-231 human breast cancer cells.									
20725992	SMYD3	Overexpression	Rectal Carcinoma	Mutated KRAS results in overexpression of DUSP4, a MAP-kinase phosphatase, and SMYD3, a histone methyltransferase, in rectal carcinomas. The presence of activating KRAS mutations is significantly correlated to an upregulation of 13 genes (adjusted P-value <0.05), among them DUSP4, a MAP-kinase phosphatase, and SMYD3, a histone methyltransferase.	Mutated KRAS	Positive regulation	Mutated KRAS results in overexpression of DUSP4, a MAP-kinase phosphatase, and SMYD3, a histone methyltransferase, in rectal carcinomas. The presence of activating KRAS mutations is significantly correlated to an upregulation of 13 genes (adjusted P-value <0.05), among them DUSP4, a MAP-kinase phosphatase, and SMYD3, a histone methyltransferase.						
20039369	SMYD3	Overexpression	Breast Carcinoma	We previously reported that overexpression of SMYD3 stimulated the migration of cells.	HSP90A	Positive regulation	SET and MYND domain-containing protein 3 (SMYD3) is a histone methyltransferase that plays an important role in transcriptional regulation in human carcinogenesis, and heat-shock protein HSP90A has been shown to increase the activity of SMYD3.						
19509295	SMYD3	Overexpression	Breast Carcinoma	Recent studies showed that SMYD3 is frequently overexpressed in different types of cancer cells, but how SMYD3 regulates the development and progression of these malignancies remains unknown. Thus, our results identify SMYD3 as a new coactivator for ER-mediated transcription, providing a possible link between SMYD3 overexpression and breast cancer.									
19403031	SMYD3	Overexpression	Hepatocellular Carcinoma	HBx protein enhanced SMYD3 mRNA and SMYD3 expressions in HepG2.	HBx	Positive regulation	HBx protein enhanced SMYD3 mRNA and SMYD3 expressions in HepG2.						
18294291	SMYD3	Mutation	Esophageal Squamous Cell Carcinoma	These findings provide additional evidence that the common VNTR polymorphism in the promoter region of SMYD3 gene may be a susceptibility factor for human cancers such as ESCC by interacting with tobacco carcinogens.									
17998933	SMYD3	Overexpression	Colorectal Carcinoma; Hepatocellular Carcinoma; Breast Carcinoma	We earlier showed that SMYD3, a histone H3-lysine 4-specific methyltransferase, is frequently upregulated in human colorectal, liver and breast cancer compared to their matched non-cancerous cells, and that its activity is associated with the growth of these tumors. In the present study, we found that human cancer cells express both the full-length and a cleaved form of SMYD3 protein.									
17963297	SMYD3	Overexpression	Hepatocellular Carcinoma	SMYD3 over-expression in HCC was associated with RIZ1 hypermethylation and mRNA down-expression.				RIZ1	association	SMYD3 over-expression in HCC was associated with RIZ1 hypermethylation and mRNA down-expression.			
16772086	SMYD3	Overexpression	Hepatocellular Carcinoma	The expression of SMYD3 mRNA was abundant in HCC cell lines HepG2, Hep3B, SMMC7721, whereas none in normal hepatic cell line L-02. SMYD3 plays a major role in occurrence and progress of HCC.									
16687068	SMYD3	Overexpression	Hepatocellular Carcinoma	SMYD3 was overexpressed in the HCC cell lines and HCC tissue. SMYD3 is overexpressed in various HCC cell lines and HCC tissue; RNA interference can down-regulate SMYD3 expression, inhibit proliferation and promote apoptosis of HepG2 cells.									
16441421	SMYD3	Overexpression	Breast Carcinoma	Enhanced SMYD3 expression is essential for the growth of breast cancer cells. In the present study, we reveal that SMYD3 expression is also elevated in the great majority of breast cancer tissues.							WNT10B	Positive regulation	Moreover, we show here that SMYD3 could promote breast carcinogenesis by directly regulating expression of the proto-oncogene WNT10B. We further reveal that the WNT10B gene is a direct transcriptional target activated by SMYD3.
16155568	SMYD3	Overexpression; Mutation	Colorectal Carcinoma; Hepatocellular Carcinoma	We previously reported that upregulation of SMYD3, a histone methyltransferase, promoted cell growth in human colorectal and hepatocellular carcinomas. These data suggest that the common variable number of tandem repeats polymorphism in SMYD3 is a susceptibility factor for some types of human cancer.									
15235609	SMYD3	Overexpression	Colorectal Carcinoma; Hepatocellular Carcinoma	Here we report the identification of SMYD3, a gene that is over-expressed in the majority of colorectal carcinomas and hepatocellular carcinomas.				HELZ	Binding	SMYD3 formed a complex with RNA polymerase II through an interaction with the RNA helicase HELZ and transactivated a set of genes that included oncogenes, homeobox genes and genes associated with cell-cycle regulation.	Nkx2.8	regulation	SMYD3 bound to a motif, 5'-CCCTCC-3', present in the promoter region of downstream genes such as Nkx2.8.
26848779	CARM1	Overexpression	Breast Carcinoma; Prostate Carcinoma; Hepatocellular Carcinoma	CARM1 overexpression has been implicated in breast, prostate, and liver cancers and therefore is an attractive target for cancer therapy.									
26601288	CARM1	Overexpression	Breast Carcinoma	Not only are the expression levels of CARM1 and MED12 positively correlated, but their high expression also predicts better prognosis in human breast cancers after chemotherapy.				MED12	Positive correlation	Not only are the expression levels of CARM1 and MED12 positively correlated, but their high expression also predicts better prognosis in human breast cancers after chemotherapy.			
26505218	CARM1	Overexpression	Breast Carcinoma	Coactivator-associated arginine methyltransferase 1 (CARM1) is known to promote estrogen receptor (ER)α-mediated transcription in breast cancer cells.				DZIP3	Binding	However, ERα reporter gene assays demonstrated that DZIP3 enhanced ERα-mediated transcription and cooperated synergistically with CARM1. Interaction with CARM1 was observed with the E3 ligase RING domain of DZIP3.			
26297264	IKZF1	Mutation	Chronic Myeloid Leukemia	Mutations in genes other than BCR-ABL1 include ASXL1, TET2, RUNX1, DNMT3A, EZH2, and TP53 in chronic phase patients and RUNX1, ASXL1, IKZF1, WT1, TET2, NPM1, IDH1, IDH2, NRAS, KRAS, CBL, TP53, CDKN2A, RB1, and GATA-2 mutations in advanced phase patients.									
25906418	CARM1	Loss of expression	Pulmonary Emphysema	Complete loss of CARM1 leads to disrupted differentiation and maturation of alveolar epithelial type II (ATII) cells. We thus hypothesized that CARM1 regulates the development and progression of emphysema.									
24434208	CARM1	Overexpression	Breast Carcinoma	Coactivator-associated arginine methyltransferase 1 (CARM1), a coactivator for various cancer-relevant transcription factors, is overexpressed in breast cancer.									
24332853	CARM1	Overexpression	Acute Myeloid Leukemia	We found that PRMT4, a type I arginine methyltransferase whose function in normal and malignant hematopoiesis is unknown, is overexpressed in acute myelogenous leukemia patient samples.									
24211191	CARM1	Overexpression	Non-small Cell Lung Carcinoma	We report that CARM1 and PRMT1 are significantly overexpressed in 60 patients with Non-Small Cell Lung Carcinomas (NSCLC). Accordingly, CARM1 and PRMT1 are overexpressed in 2 NSCLC cell lines, A549 and H1299.							PRMT1	Negative regulation	The fact that CARM1 targeting suppresses PRMT1 in addition to CARM1 reinforces the functional importance of CARM1/PRMT1 interaction.
23915145	CARM1	Overexpression	Breast Carcinoma	Overexpression of CARM1 in breast cancer is correlated with poorly characterized clinicopathologic parameters and molecular subtypes. Staining for CARM1 was significantly stronger in adenocarcinoma compared with adjacent benign epithelium. CARM1 expression was increased in invasive breast cancer.				HER2	Positive correlation	Our study demonstrated CARM1 overexpression was associated with an increase in the protein expression of HER2. CARM1 overexpression was associated with poorly characterized clinicopathologic parameters and HER2 overexpression.			
23912631	CARM1	Overexpression	Hepatocellular Carcinoma	Elevated expression of coactivator-associated arginine methyltransferase 1 is associated with early hepatocarcinogenesis. In the present study, we found that the expression of coactivator-associated arginine methyltransferase 1 (CARM1), a histone methyltransferase that functions as a cofactor for nuclear hormone receptors and several transcription factors, was elevated in adenomas and aberrant in carcinomas during hepatocellular carcinogenesis. In addition to RNA expression, immunohistochemical staining of liver sections revealed that CARM1 was highly expressed in the nucleus of tumor marker glutathione S-transferase placental form (GST-P)-positive foci.									
23887673	CARM1	Overexpression	Breast Carcinoma	In the whole series, increased CARM1 expression is correlated with features associated with aggressive behaviour such as young age, premenopausal status, large tumour size and high tumour grade.				HER2; Basal Cytokeratins; EGFR; p53; Ki67; TK1; CD71; Cyclin E	Positive correlation	There is a positive correlation between CARM1 expression and biomarkers associated with non-luminal phenotype and poor prognosis such as HER2, basal cytokeratins, EGFR, p53 and the proliferation markers Ki67, TK1, CD71 and Cyclin E. Negative associations with the luminal-associated markers including steroid receptors and luminal cytokeratins are found.			
23663560	CARM1	Overexpression	Breast Carcinoma	We found that levels of cytoplasmic CARM1 are distinct among tumor sub-types and increased levels are associated with ER-negative (ER-) status.									
23265702	CARM1	Underexpression	Melanoma	Our findings demonstrate that expression of PRMT4/CARM1 and PRMT6 is deregulated in melanoma, whereas expression of the remaining PRMTs stays unchanged.									
25436604	CARM1	Overexpression	Hodgkin Lymphoma	We first show that the protein arginine methyltransferases, CARM1, PRMT1 and PRMT5 are strongly expressed in Hodgkin Reed-Sternberg (HRS) cells, and up-regulated in Hodgkin's lymphoma (HL) cell lines. EBV infection of GC B cells was followed by the up-regulation of CARM1, PRMT1 and PRMT5, and by the down-regulation of the arginine deiminase, PADI4.									
21478268	CARM1	Overexpression	Colorectal Carcinoma	In colorectal cancer cells with constitutively high Wnt/β-catenin activity, depletion of CARM1 inhibits expression of endogenous Wnt/β-catenin target genes and suppresses clonal survival and anchorage-independent growth.							Wnt/β-catenin	Positive regulation	In colorectal cancer cells with constitutively high Wnt/β-catenin activity, depletion of CARM1 inhibits expression of endogenous Wnt/β-catenin target genes and suppresses clonal survival and anchorage-independent growth. Therefore, CARM1 is an important positive modulator of Wnt/β-catenin transcription and neoplastic transformation, and may thereby represent a novel target for therapeutic intervention in cancers involving aberrantly activated Wnt/β-catenin signaling.
21282336	CARM1	Overexpression	Breast Neoplasm	In human breast tumors, CARM1 expression positively correlated with ERα levels in ER-positive tumors but was inversely correlated with tumor grade. Our findings suggest that coexpression of CARM1 and ERα may provide a better biomarker of well-differentiated breast cancer.				ERα	Positive correlation	In human breast tumors, CARM1 expression positively correlated with ERα levels in ER-positive tumors but was inversely correlated with tumor grade. Our findings suggest that coexpression of CARM1 and ERα may provide a better biomarker of well-differentiated breast cancer.			
20530543	CARM1	Overexpression	Breast Carcinoma; Prostate Adenocarcinoma	In adults, CARM1 is overexpressed in human grade-III breast tumors and prostate adenocarcinomas, and knockdown of CARM1 inhibits proliferation of breast and prostate cancer cell lines.									
20462455	CARM1	Overexpression	Colorectal Carcinoma; Prostate Carcinoma	Correspondingly, overexpression of CARM1 has been associated with the development of prostate cancer (PCa) and its progression to androgen-independent PCa. CARM1 expression was also evaluated in prostate and colorectal surgical specimens and the clinical records of all cases were reviewed. The tissue microarray showed that CARM1 was particularly overexpressed in the colorectal cancers while CARM1 expression was not prevalent in the prostate and breast cancers.									
18172323	CARM1	Overexpression	Breast Carcinoma	CARM1 regulates estrogen-stimulated breast cancer growth through up-regulation of E2F1. Here, we show that CARM1 is essential for estrogen-induced cell cycle progression in the MCF-7 breast cancer cell line.							E2F1	Positive regulation	CARM1 regulates estrogen-stimulated breast cancer growth through up-regulation of E2F1.
16938873	CARM1	Overexpression	Breast Carcinoma	Finally, we show that grade-3 breast tumors present coelevated mRNA levels of ACTR and CARM1, along with their transcriptional target CCNE1.									
16705743	CARM1	Overexpression	Prostate Carcinoma	CARM1 expression was increased in the nucleus of castration-resistant, but not androgen-stimulated prostate cancer.							AR	Positive regulation	Overexpression of CARM1 stimulated and CARM1 knockdown inhibited AR reporter activity.
15221992	CARM1	Overexpression	Prostate Adenocarcinoma	The staining intensity for CARM1 was significantly lower in benign prostate tissue specimens compared with PIN and prostatic adenocarcinoma specimens (P < 0.001). In the 12 patients with androgen-independent prostatic adenocarcinoma, the expression of CARM1 was significantly increased when compared with patients without previous hormonal treatment.							AR	Positive regulation	Coactivator-associated arginine methyltransferase 1 (CARM1) is a transcriptional coactivator of the androgen receptor (AR).
26004342	PHIP	Overexpression	Breast Carcinoma	The present study demonstrates the mechanisms by which curcumin inhibits PhIP-induced cytotoxicity in normal breast epithelial cells (MCF-10A). PhIP suppressed the expression of the tumor suppressor P16 gene, whereas curcumin co-treatment increased its expression.							P16	Negative regulation	PhIP suppressed the expression of the tumor suppressor P16 gene, whereas curcumin co-treatment increased its expression.
25628930	PHIP	Overexpression	Prostate Carcinoma	Here, we describe our work in evaluating the molecular events associated with PhIP-mediated disruption of AR function in LNCaP human prostate cancer cells. In vitro assays show that PhIP increase AR protein expression in LNCaP cells and alters its responsiveness through PSA protein and mRNA expression.							AR	Positive regulation	In vitro assays show that PhIP increase AR protein expression in LNCaP cells and alters its responsiveness through PSA protein and mRNA expression.
24518113	PHIP	Copy number gain	Melanoma	PHIP has been found to be amplified in wild-type melanomas, resulting in Akt activation and aerobic glycolysis (Warburg effect), associated with ulceration.							Akt	Positive regulation	PHIP has been found to be amplified in wild-type melanomas, resulting in Akt activation and aerobic glycolysis (Warburg effect), associated with ulceration.
24005052	PHIP	Copy number gain	Melanoma	The combined impact of increased PHIP copy number and tumor vascularity on ulceration status was highly significant (P<0.0001).									
22511720	PHIP	Overexpression (copy number gain)	Melanoma	In addition, a high proportion of PHIP-overexpressing melanomas harbored increased PHIP copy number. PHIP-overexpressing melanomas include tumors with wild-type BRAF, neuroblastoma RAS viral (v-ras) oncogene homolog, and phosphatase and tensin homolog, demonstrating PHIP activation in triple-negative melanoma.									
27664237	IKZF1	Mutation (loss of function)	B Acute Lymphoblastic Leukemia	IKAROS is required for the differentiation of highly proliferative pre-B-cell precursors, and loss of IKAROS function indicates poor prognosis in precursor B-cell acute lymphoblastic leukemia (B-ALL).									
27644650	IKZF1	Mutation	Childhood B Acute Lymphoblastic Leukemia	Genotypic and allelic frequencies differed significantly between cases and controls at IKZF1-rs4132601 (p=0.039, p=0.015) and ARID5B-rs10821936 (p=0.028, p=0.026).									
27614734	IKZF1	mutation	B Acute Lymphoblastic Leukemia	We have identified at the diagnosis clonal IGH rearrangement (VH3-JH5) and IKZF1 deletion (Δ4-7), which we have used it for MRD evaluation after induction chemotherapy.									
27604872	IKZF1	Overexpression	Acute Myeloid Leukemia	At last, we show that ETV6 and IKZF1 expression levels are positively correlated with expression of a number of heptad genes in AML and high expression of all nine genes confers poorer overall prognosis.									
27419633	IKZF1	mutation	Acute Lymphoblastic Leukemia	COBL is a novel hotspot for IKZF1 deletions in childhood acute lymphoblastic leukemia.									
27415155	IKZF1	Mutation	Acute Myeloid Leukemia	Moreover, we detected 2 novel genomic mutations in 2 known leukemogenic genes, IKZF1 and ASXL1.									
27294874	IKZF1	Overexpression	Acute Myeloid Leukemia	LEN induced GPR68 expression via IKAROS family zinc finger 1 (IKZF1), resulting in increased cytosolic calcium levels and activation of a calcium-dependent calpain, CAPN1, which were requisite steps for induction of apoptosis in MDS cells and in acute myeloid leukemia (AML) cells.	LEN	Regulation	LEN induced GPR68 expression via IKAROS family zinc finger 1 (IKZF1), resulting in increased cytosolic calcium levels and activation of a calcium-dependent calpain, CAPN1, which were requisite steps for induction of apoptosis in MDS cells and in acute myeloid leukemia (AML) cells.				GPR68	Positive regulation	LEN induced GPR68 expression via IKAROS family zinc finger 1 (IKZF1), resulting in increased cytosolic calcium levels and activation of a calcium-dependent calpain, CAPN1, which were requisite steps for induction of apoptosis in MDS cells and in acute myeloid leukemia (AML) cells.
27265895	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Furthermore, we identify a subtype characterized by an ETV6-RUNX1-like gene-expression profile and coexisting ETV6 and IKZF1 alterations.				ETV6	Co-existing mutation	Furthermore, we identify a subtype characterized by an ETV6-RUNX1-like gene-expression profile and coexisting ETV6 and IKZF1 alterations.			
27229714	IKZF1	mutation	Acute Lymphoblastic Leukemia	The genomic profile of ETV6-ABL1 acute lymphoblastic leukemia resembled that of BCR-ABL1 and BCR-ABL1-like cases with 80% of patients having concurrent CDKN2A/B and IKZF1 deletions.									
27181063	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	We observed and validated point mutations in EP300 and NF1, a highly expressed EP300-ZNF384 gene fusion, a microdeletion in IKZF1, a focal deletion affecting SETD2, and large deletions affecting RB1, PAX5, NF1, and ETV6.									
27176795	IKZF1	mutation	B Acute Lymphoblastic Leukemia	IKZF1 deletion was present in 16 of the 22 patients.									
26297264	IDH2	Mutation	Acute Myeloid Leukemia	Mutations in genes other than BCR-ABL1 include ASXL1, TET2, RUNX1, DNMT3A, EZH2, and TP53 in chronic phase patients and RUNX1, ASXL1, IKZF1, WT1, TET2, NPM1, IDH1, IDH2, NRAS, KRAS, CBL, TP53, CDKN2A, RB1, and GATA-2 mutations in advanced phase patients.									
27123491	IKZF1	genetic alteration	Acute Lymphoblastic Leukemia	Alterations in IKZF1, which encodes the lymphoid transcription factor Ikaros, are present in over 80% of Ph(+) ALL and are associated with a stem cell-like phenotype, aberrant adhesion molecule expression and signaling, leukemic cell adhesion to the bone marrow stem cell niche, and poor outcome.									
27067989	IKZF1	Loss of expression	B Acute Lymphoblastic Leukemia	Prognostic impact of IKZF1 deletion in adults with common B-cell acute lymphoblastic leukemia. Deletions in IKZF1 were detected using multiplex RQ-PCR, multiplex fluorescent PCR, sequence analysis and multiplex ligation-dependent probe amplification (MLPA). These data suggest IKZF1 deletion may be a useful prognostic variable in adults with common B-cell ALL, especially in persons without BCR-ABL1 and those receiving chemotherapy-only.									
27007619	IKZF1	Mutation	Acute Lymphoblastic Leukemia	Using a standardized bioinformatics algorithm, we identified kinase and cytokine receptor rearrangements in the majority of ALL patients with high burden of postinduction MRD and enrichment of IKZF1 mutation or deletion (IKZF1(del) ).									
26991355	IKZF1	Mutation	Acute Lymphoblastic Leukemia	Philadelphia chromosome-like ALL is essentially heterogeneous; however, deletion mutations in the IKZF1 gene encoding the transcription factor IKAROS underlie many cases as a key factor inducing aggressive phenotypes and poor treatment responses.									
26892479	IKZF1	Mutation	Acute Lymphoblastic Leukemia	Clinical impact of ABL1 kinase domain mutations and IKZF1 deletion in adults under age 60 with Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukemia (ALL): molecular analysis of CALGB (Alliance) 10001 and 9665. Of these, 22 (79%) had IKZF1 deletion.									
26886259	IKZF1	Mutation	Typical Acute Promyelocytic Leukemia	After prioritization and network analysis we found recurrent deleterious mutations in 8 individual genes (STAG2, U2AF1, SMC1A, USP9X, IKZF1, LYN, MYCBP2 and PTPN11) with a strong potential of being involved in APL pathogenesis.									
26875463	IKZF1	mutation	B Acute Lymphoblastic Leukemia	To identify ikaros family zinc finger1 (IKZF1) deletion in patients with pediatric B cells-acute lymphoblastic leukemia (B-ALL) without reproducible chromosomal abnomalities and further investigate its value in this part of patients' pathogenesis and prognosis. Three of 19 patients with IKZF1 deletions of the whole gene; ten of 19 patients with IKZF1 deletions of exon 1; 4 of 19 patients with IKZF1 deletions of exons 4-7; one of 19 patients with IKZF1 deletions of exons 2-7 and one of 19 patients with IKZF1 deletions of exons 1-6.									
26704074	IKZF1	mutation	B Acute Lymphoblastic Leukemia	IKZF1 deletions have been reported with variable frequency in B-ALL. The IKZF1 deletions were detected in 29 (28.7%) cases; 53% BCR-ABL positive, 24% BCR-ABL negative, 47% adult and 24% pediatric cases. The IKZF1 deletions were detected in 28.7% B-ALL patients.									
26655717	IKZF1	Mutation (loss of function)	B Acute Lymphoblastic Leukemia	Impaired function of the Ikaros (IKZF1) protein is associated with the development of high-risk B-cell precursor acute lymphoblastic leukemia (B-ALL).									
26575870	IKZF1	mutation	Childhood B Acute Lymphoblastic Leukemia	To identify IKZF1 gene copy number abnormalities in BCR/ABL-negative B-lineage acute lymphoblastic leukemia (B-ALL) in children, and to investigate the association between such abnormalities and prognosis. Among 180 children, 27 (15.0%) had IKZF1 deletion; among the 27 children, 4 had complete deletions of 8 exons of IKZF1 gene, 17 had deletion of exon 1, 3 had deletions of exons 4-7, and 3 children had deletions of exons 2-7. Compared with those in the IKZF1 normal group, children in the IKZF1 deletion group had higher white blood cell (WBC) count and percentage of individuals with high risk of minimal residual disease at the first visit.									
26575185	IKZF1	SNP; Copy number loss	Acute Lymphoblastic Leukemia	These SNPs are located at CDKN2A (rs3731217) and IKZF1 (rs4132601), genes frequently lost in ALL, and at CEBPE (rs2239633), ARID5B (rs7089424), PIP4K2A (rs10764338), and GATA3 (rs3824662), genes located on chromosomes gained in high-hyperdiploid ALL.									
26517351	IKZF1	mutation	Acute Lymphoblastic Leukemia	IKZF1 deletion is associated with the development and poor outcome of ALL.									
26445409	IKZF1	hypermethylation	Colorectal Carcinoma	Specific genes, such as BCAT1 and IKZF1, are methylated with high frequency in colorectal cancer (CRC) tissue compared to normal colon tissue specimens.									
26404892	IKZF1	mutation	Acute Lymphoblastic Leukemia	Identification of novel kinase fusion transcripts in paediatric B cell precursor acute lymphoblastic leukaemia with IKZF1 deletion.									
26321221	IKZF1	Mutation	Acute Lymphoblastic Leukemia	Alterations of IKZF1, encoding the lymphoid transcription factor IKAROS, are a hallmark of high-risk acute lymphoblastic leukemia (ALL), however the role of IKZF1 alterations in ALL pathogenesis is poorly understood.									
26314472	IKZF1	Mutation (loss of function)	B Acute Lymphoblastic Leukemia	Function-loss mutations of IKZF1, gene encoding Ikaros are frequent in B cell acute lymphoblastic leukemia (B-ALL) and are associated with a poor prognosis.									
26370152	TDG	SNP; altered expression	Skin Carcinoma	The nonsynonymous coding SNP (rs2888805) and the intronic SNP (rs4135150) of TDG are associated with increased risk of developing nonmelanoma skin cancer and other cancers. In addition to gastrointestinal cancers, the mRNA levels ofTDGincrease in p53-mutated adrenocortical tumors associated with Li-Faumeni syndrome, but in multiple myeloma cell lines  and pancreatic adenocarcinoma , theTDGmRNA levels decrease.									
26277549	IKZF1	mutation	B Acute Lymphoblastic Leukemia	In children older than 2 years, there was a predominance of CNAs involving deletions in IKZF1, CDKN2A, and CDKN2B, whereas the pseudoautosomal region 1 (PAR1) had deletions that were found more frequently in infants (P<0.05).									
26219304	IKZF1	Copy number loss	High Risk Acute Leukemia	In high-risk leukemia where one IKZF1 allele has been deleted, CK2 inhibition restores the transcriptional repressor function of the remaining wild-type IKZF1 allele.									
26202931	IKZF1	mutation	Childhood B Acute Lymphoblastic Leukemia	Deletions in IKZF1 are found in ~15% of children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL).									
26194343	IKZF1	mutation	Childhood B Acute Lymphoblastic Leukemia	The cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) deletion (59 of 142 or 42%) was the most frequent CNA, and it was followed by Ikaros family zinc finger 1 (IKZF1) losses (49 of 142 or 35%). IKZF1 deletions were more prevalent in Philadelphia chromosome (Ph)-positive ALL and were associated with advanced age and high white blood cell (WBC) counts. Deletions of EBF1, IKZF1, and CDKN2A/B have an independent adverse prognosis for adolescents and adults with B-precursor ALL, and this suggests that these CNAs should be included in the initial risk assessment of ALL.									
26186983	IKZF1	Copy number loss	Chronic Myeloid Leukemia	Copy number losses involving the IKZF1 gene were observed in two patients with CML-BP.									
26140241	IKZF1	Mutation	Acute Lymphoblastic Leukemia	Clinical studies have identified alterations in Ikaros (Ik) transcription factor as the major marker associated with poor outcomes in ALL.									
26069293	IKZF1	Mutation	Acute Myeloid Leukemia	Recurrent deletions of IKZF1 in pediatric acute myeloid leukemia. Three patients were identified with a single amino acid variant without change of IKZF1 length. Out of 11 patients with an IKZF1 deletion, 8 samples revealed a complete loss of chromosome 7, and 3 cases a focal deletion of 0.1-0.9Mb. These deletions included the complete IKZF1 gene (n=2) or exons 1-4 (n=1), all leading to a loss of IKZF1 function. Together, these results suggest that loss of IKZF1 is recurrent in pediatric acute myeloid leukemia and might be a determinant of oncogenesis in acute myeloid leukemia with monosomy 7.									
26050650	IKZF1	mutation	Childhood B Acute Lymphoblastic Leukemia	IKZF1 deletion is an independent prognostic marker in childhood B-cell precursor acute lymphoblastic leukemia, and distinguishes patients benefiting from pulses during maintenance therapy: results of the EORTC Children's Leukemia Group study 58951.									
26045716	IKZF1	Polymorphism	Acute Lymphoblastic Leukemia	More recently, genome wide association studies identified significant associations between genetic polymorphisms in ARID5B e IKZF1 and acute lymphoblastic leukaemia, but only a few studies have replicated these results until now.									
26018335	IKZF1	mutation	B Acute Lymphoblastic Leukemia	The clinical impact of IKZF1 deletions in paediatric B-cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1992 and 2013. Paediatric B-cell precursor acute lymphoblastic leukaemias (BCP ALL) with IKZF1 deletions (IKZF1) are associated with a poor outcome.									
25990863	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Over the last few years, high-resolution analysis of genetic changes in leukemia has revealed that several key regulators of normal B-cell development, including IKZF1, TCF3, EBF1, and PAX5, are genetically altered in a large portion of the human B-lineage acute leukemias.									
25806972	IKZF1	Polymorphism	Childhood Acute Lymphoblastic Leukemia	Genome-wide association studies (GWAS) have identified that frequent polymorphisms in ARID5B and IKZF1, two genes involved in lymphoid differentiation, increase the risk of childhood acute lymphoblastic leukemia (ALL).									
25761407	IKZF1	Mutation	Childhood Acute Lymphoblastic Leukemia	Association of genetic variation in IKZF1, ARID5B, and CEBPE and surrogates for early-life infections with the risk of acute lymphoblastic leukemia in Hispanic children. Significant associations between genotypes at IKZF1, ARID5B, and CEBPE and ALL risk were identified: rs7780012, OR 0.50, 95% confidence interval (CI) 0.35-0.71 (p = 0.004); rs7089424, OR 2.12, 95% CI 1.70-2.65 (p = 1.16 × 10(-9)); rs4982731, OR 1.69, 95% CI 1.37-2.08 (p = 2.35 × 10(-6)), respectively. Results implicate the ARID5B, CEBPE, and IKZF1 genes in the pathogenesis of childhood ALL.									
25753742	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	This review summarizes our current knowledge of IKZF1 abnormalities in human disease, with an emphasis on BCP ALL.									
25727050	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	In contrast to IKZF1 deletions (ΔIKZF1), IKZF1 sequence mutations (mutIKZF1) have been reported to be rare in B-cell precursor acute lymphoblastic leukemia and their clinical implications are unknown. 									
25655195	IKZF1	Mutation; Underexpression	T Acute Lymphoblastic Leukemia	Activating NOTCH1 mutations occur in ~60% of human T-cell acute lymphoblastic leukemias (T-ALLs), and mutations disrupting the transcription factor IKZF1 (IKAROS) occur in ~5% of cases. Furthermore, we find that IKAROS mRNA expression is significantly reduced in a cohort of primary human T-ALL patient samples with activating NOTCH1/FBXW7 mutations, but is upregulated upon acute inhibition of aberrant NOTCH signaling across a panel of human T-ALL cell lines.									
25587040	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	In B-cell precursor ALL, SCT also benefitted patients with focal IKZF1 gene deletion (hazard ratio, 0.42).									
25501350	IKZF1	Mutation	Acute Lymphoblastic Leukemia	IKZF1 deletions were identified in 93 patients (78.8%).									
25423013	IKZF1	Mutation	Childhood Acute Lymphoblastic Leukemia; B Acute Lymphoblastic Leukemia	Two common polymorphisms in the IKZF1 gene (rs4132601 and rs11978267 variants) have been reported to be associated with childhood acute leukemia (AL) risk, however the results were inconsistent. In summary, this meta-analysis provides evidence that rs4132601 and rs11978267 polymorphisms in the IKZF1 gene might contribute to the occurrence of BCP-ALL, especially in European populations.									
25370416	IKZF1	Underexpression; Loss of expression	Chronic Myeloid Leukemia	Here, we report that IKAROS protein is absent or reduced in bone marrow blasts from most CML patients with advanced myeloid disease (AP or BC). 	IK6	Negative regulation	We confirmed that IK6 disrupts IKAROS activity in transduced CP-CML cells and showed that it confers on them features of AP-CML, including a prolonged increased output in vitro and in xenografted mice of primitive cells with an enhanced ability to differentiate into basophils.						
25335741	IKZF1	Mutation	Acute Lymphoblastic Leukemia	The findings from this meta-analysis suggest that IKZF1 deletion can be used to serve as an independent predictive factor in patients with ALL.									
25331116	IKZF1	Mutation; Underexpression	Acute Lymphoblastic Leukemia	Results confirm high frequencies of RAS and other activated signaling mutations (10/12 AMLs) and identify new recurrent mutations in splicing factors (5/12 AMLs in SF3B1 and 2/12 AMLs in U2AF1), IKZF1 (3/12 AMLs), and TP53 (3/12 AMLs).  Moreover IKZF1 expression is halved in monosomy 7 leukemias.				Monosomy 7	Mutually exclusive	Mutations in IKZF1, a gene located on chromosome 7, and monosomy 7 are mutually exclusive in this disease.			
25310577	IKZF1	SNP	Childhood Acute Lymphoblastic Leukemia	Thirteen SNPs achieved genome wide significance in the population based case/control analysis; ten annotated to ARID5B and three to IKZF1.									
25261097	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Apart from identifying characteristic microdeletions of the CDKN2A, EBF1, ETV6, IKZF1, PAX5 and RB1 genes, the present study uncovered novel, focal deletions of the BCAT1, BTLA, NR3C1, PIK3AP1 and SERP2 genes in 2-6% of the adult cases. IKZF1 deletions were associated with B-cell precursor acute lymphoblastic leukemia (P=0.036), BCR-ABL1-positive acute lymphoblastic leukemia (P<0.001), and higher white blood cell counts (P=0.005).									
25150625	IKZF1	Mutation	Childhood B Acute Lymphoblastic Leukemia	Despite the fact that BCP-ALL with ETV6-RUNX1 usually results in a very good prognosis, the sibs experienced divergent outcomes; a remarkable difference in one child that presented a more aggressive disease was higher leukocytosis associated with IKZF1 deletion. The sibs were absolutely identical in all 17 loci of genes tested; GSTM1, GSTT1, NQO1, TP53, and TP63 were wild-type, whereas at least one copy of the variant allele for IKZF1, ARID5B, PTPRJ and CEBPE was present.									
25044358	IKZF1	Mutation	Acute Lymphoblastic Leukemia	IKZF1 deletions, found in 20-30% of DS-ALL patients, are associated with a poor outcome and EBF1 deletions are very rare (2%). IKZF1 deletions were detected in 25% of patients and associated with shorter overall survival (OS).									
24976218	IKZF1	Mutation	Childhood Acute Lymphoblastic Leukemia	Ikaros, the product of IKZF1, is a regulator of lymphoid development and polymorphisms in the gene have been associated with the acute lymphoblastic leukemia (ALL). Additionally, IKZF1 deletions and mutations identify high-risk biological subsets of childhood ALL [Georgopoulos et al. Cell 1995;83(2):289-299; Mullighan et al.									
24753091	IKZF1	Mutation	Acute Lymphoblastic Leukemia	Both the TEL-AML1 translocation and high-hyperdiploidy were associated with younger age at diagnosis (24.4 months, P=2.0 x 10(-4) and 12.4 months, P=0.011, respectively), while CDKN2A and IKZF1 deletions were associated with older age at diagnosis (19.7 months, P=7.0 x 10(-4) and 18.1 months, P=0.012, respectively).									
24740809	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	A higher specific hazard of relapse was independently associated with postinduction MRD level �?0(-4) and unfavorable genetic characteristics (ie, MLL gene rearrangement or focal IKZF1 gene deletion in BCP-ALL and no NOTCH1/FBXW7 mutation and/or N/K-RAS mutation and/or PTEN gene alteration in T-cell ALL).									
24673583	IKZF1	Mutation	Chronic Myeloid Leukemia	IKZF1, PAX5, CDKN2A deletions) could be detected in CML-CP and may be used to predict disease progression to LyBC.									
24659638	IKZF1	Mutation	Acute Lymphoblastic Leukemia	Deletions and/or mutations of Ikaros have been detected in a large percentage of pediatric and adult ALL and reduced Ikaros function has been associated with poor outcome in ALL.									
24578304	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Interestingly, the two patients with IKZF1 deletion eventually relapsed in JACLS cohort, as did one patient in CCLSG cohort. International collaborative study of larger cohort is warranted to clarify the impact of the IKZF1 deletion on the poor outcome of TCF3-PBX1 positive BCP-ALL.									
24366361	IKZF1	Mutation	Childhood B Acute Lymphoblastic Leukemia	Childhood BCR-ABL1-positive B-cell precursor acute lymphoblastic leukemia (BCP-ALL) has an unfavorable outcome and shows high frequency of IKZF1 deletions. In 126/191 (66%) cases an IKZF1 deletion was detected. In conclusion, the highly unfavorable outcome for childhood BCR-ABL1-positive BCP-ALL with IKZF1 deletions, irrespective of imatinib exposure, underscores the need for alternative therapies.									
24200646	IKZF1	SNP	Childhood Acute Lymphoblastic Leukemia	Polymorphic variants of IKZF1 (rs6964823, rs4132601, and rs6944602) and ARID5B (rs7073837, rs10740055, and rs7089424) were detected by HRM, and SNPs were analyzed for association with childhood ALL.									
24156417	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Four out of 7 (57.1%) patients were found to have IKZF1 gene deletion, without other common gene mutations.									
24141364	IKZF1	Mutation	Ph-like Acute Lymphoblastic Leukemia	The rs3824662 risk allele was associated with somatic lesions underlying Ph-like ALL (CRLF2 rearrangement, JAK gene mutation and IKZF1 deletion) and with variation in GATA3 expression.									
24081948	IKZF1	Mutation	Childhood B Acute Lymphoblastic Leukemia	Genomic alterations in B cell differentiation factors such as PAX5, IKZF1, and EBF-1 have been identified in more than half of all cases of childhood B precursor acute lymphoblastic leukemia (ALL).									
24064621	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	An intragenic ERG deletion is a marker of an oncogenic subtype of B-cell precursor acute lymphoblastic leukemia with a favorable outcome despite frequent IKZF1 deletions. However, ERG(del) patients had a very good outcome, with an 8-year event-free survival (8-y EFS) and an 8-year overall survival of 86.4% and 95.6%, respectively, suggesting that the IKZF1 deletion had no impact on prognosis in this genetic subtype.									
23974192	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	BCR-ABL1-like, IKZF1-deleted, and CRLF2-high cases constitute 33.7% of BCR-ABL1-negative, MLL wild-type BCP-ALL cases, of which BCR-ABL1-like and IKZF1 deletion (co)occurred most frequently. No relapses occurred among cases with CRLF2-high as single feature, whereas 62.9% of all relapses in BCR-ABL1-negative, MLL wild-type BCP-ALL occurred in cases with BCR-ABL1-like signature and/or IKZF1 deletion.									
23930217	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	IKZF1 deletion is associated with a poor outcome in pediatric B-cell precursor acute lymphoblastic leukemia in Japan. Genetic alterations of Ikaros family zinc finger protein 1 (IKZF1), point mutations in Janus kinase 2 (JAK2), and overexpression of cytokine receptor-like factor 2 (CRLF2) were recently reported to be associated with poor outcomes in pediatric B-cell precursor (BCP)-ALL. Deletion of IKZF1 occurred in 19/202 patients (9.4%) and CRLF2 overexpression occurred in 16/107 (15.0%), which are similar to previous reports. IKZF1 deletion was identified as adverse prognostic factor even in pediatric BCP-ALL in NCI-HR showing good response to PSL.									
23823658	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Deletions of IKZF1 and SPRED1 are associated with poor prognosis in a population-based series of pediatric B-cell precursor acute lymphoblastic leukemia diagnosed between 1992 and 2011. Of these, deletions/uniparental isodisomies of ADD3, ATP10A, EBF1, IKZF1, PAN3, RAG1, SPRED1 and TBL1XR1 were significantly more common in B-cell precursor ALL patients who relapsed compared with those remaining in complete remission. Older age and deletions of IKZF1 and SPRED1 were also associated with poor overall survival.									
23804397	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Genome-wide analysis studies have demonstrated that IKZF1, CRLF2, and JAK2 gene alterations correlate with poor prognosis in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL). IKZF1 deletions and CRLF2-high expression were identified in 22 of 177 (12%) patients and in 15 of 141 (11%) patients, respectively. IKZF1 deletions and CRLF2-high expression predicted poor outcomes in patients with HR-ALL but not in patients with SR-ALL in our Japanese cohort.									
23759245	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Multivariate models revealed that, besides WBC more than 30×10(9)/L and IK6 variant of IKZF1, high MSI2 expression was also an independent prognostic factor for adult BCR-ABL-negative B-ALL.									
23751147	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	High frequency of IKZF1 genetic alterations in adult patients with B-cell acute lymphoblastic leukemia. Aberrant isoforms of IKZF1 were detected using RT-PCR. The copy numbers of IKZF1 exons and fusion genes caused by exon deletions were determined using RQ-PCR and genomic PCR, respectively. In total, 41 of the 78 (52.6%) patients harbored IKZF1 alterations, which were identified in 20 of 24 (83.3%) patients with Philadelphia chromosome (Ph)-positive B-ALL compared with 21 of 54 (38.9%) Ph-negative B-ALL (P=0.0004). IKZF1 alterations are highly involved even in adults with B-ALL.									
23675566	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	One of these mutations comprises the IKZF1 gene, encoding the IKAROS transcription factor which is one of the essential transcription factors driving lymphoid development. IKZF1 deletions were first identified by SNP arrays in ALL patients, and later identified with a high prevalence in BCR-ABL1(+) patients. Here, we characterized IKZF1 deletions in pediatric BCP-ALL patients by combining MLPA mapping experiments with long distance inverse PCR.									
23608171	IKZF1	SNP	Childhood Acute Lymphoblastic Leukemia	Recent genome-wide association studies (GWAS) that focus on childhood acute lymphoblastic leukemia (ALL), the most common malignancy in children younger than 15 years old, have found evidence that single nucleotide polymorphisms (SNPs) in IKZF1 (7p12.2), ARID5B (10q21.2) and CEBPE (14q11.2) are strongly related to the risk of childhood ALL.									
23591360	IKZF1	Mutation	Ph-like Acute Lymphoblastic Leukemia	Ph-like ALL (BCR-ABL1-like ALL) patients lack a previously identified chromosomal rearrangement, but exhibit a gene-expression profile highly similar to that of Ph+ALL, and often have deletion/mutation of IKZF1, CRLF2 rearrangments and JAK1/2sequence mutations which are also common in Ph+ALL.									
23585525	IKZF1	mutation	B Acute Lymphoblastic Leukemia	Most IKZF1-deleted cases stratified in the high-risk group relapsed, suggesting that once identified, patients with these deletions require an alternative treatment.									
23521501	IKZF1	Loss of expression	Ph-like Acute Lymphoblastic Leukemia	Surprisingly, loss of the IKZF1 and/or CDKN2A genes, the hallmark of Ph(+)ALL, were recurrent findings in Ph(+)AML and accompanied cryptic deletions within the immunoglobulin and T cell receptor genes.									
23512250	IKZF1	Mutation	Acute Lymphoblastic Leukemia	ARID5B, IKZF1, CEBPE, and BMI1-PIP4K2A variants cumulatively conferred strong predisposition to ALL, with children carrying six to eight copies of risk alleles at a ninefold (95% confidence interval = 6.9 to 11.8) higher ALL risk relative to those carrying zero to one risk allele at these four single nucleotide polymorphisms.									
23508010	IKZF1	Copy number loss	Childhood B Acute Lymphoblastic Leukemia	An increased number of copy number abnormalities is associated with NCI high risk, specifically deletions of IKZF1 and CDKN2A/B, which occur more frequently among these patients. IKZF1 deletions and rearrangements of CRLF2 among patients with undefined karyotypes may point to the poor risk BCR-ABL1-like group.									
23487523	IKZF1	Copy number loss	Acute Lymphoblastic Leukemia	Mouse Lymphoblastic Leukemias Induced by Aberrant Prdm14 Expression Demonstrate Widespread Copy Number Alterations Also Found in Human ALL. Many deletions (i.e., Cdkn2a, Ebf1, Pax5, Ikzf1) involved B-cell development genes and tumor suppressor genes, recapitulating deletions occurring in human leukemia.									
23484726	IKZF1	Mutation	Acute Lymphoblastic Leukemia	The roles of hematopoietic stem cells, some gene abnormalities including IKZF1, JAK, CRLF2 and CREBBP, as well as mutation of genes influencing drug resistance have been confirmed to related with relapse of disease.									
23233609	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Mutations in genes regulating lymphoid development are a hallmark of ALL, and alterations of the lymphoid transcription factor gene IKZF1 (IKAROS) are associated with a high risk of treatment failure in B-ALL.									
23212523	IKZF1	Mutation	Ph-like Acute Lymphoblastic Leukemia	One recently identified subtype of pediatric B-precursor acute lymphoblastic leukemia (ALL) has been termed BCR-ABL1-like or Ph-like because of similarity of the gene expression profile to BCR-ABL1 positive ALL suggesting the presence of lesions activating tyrosine kinases, frequent alteration of IKZF1, and poor outcome.									
23210573	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	JAK2 and IKZF1 mutations were commonly detected in patients with BCR-ABL1 ALL, and HOX overexpression was highly correlated with MLL fusions and SET-NUP214.									
23065506	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Deletion of the Ikaros (IKZF1) gene is an oncogenic lesion frequently associated with BCR-ABL1-positive acute lymphoblastic leukemias.									
23021489	IKZF1	SNP	B Acute Lymphoblastic Leukemia	With logistic regression, we identified 6 SNPs in the ARID5B and IKZF1 genes associated with increased risk to B-cell ALL, and two SNPs in the STAT3 gene, which decreased the risk to hyperdiploid ALL. In the present study we confirmed the roles of genetic variations in ARID5B and IKZF1 in the susceptibility to B-cell ALL.									
22997141	IKZF1	Loss of expression	Childhood B Acute Lymphoblastic Leukemia	We simultaneously detected IKZF1 gene deletions by multiplex ligation-dependent probe amplification and gene expression of IKZF1 isoforms in 206 children with BCR/ABL-negative ALL treated with ALL IC-BFM 2002 protocol, in which risk stratification was not based on minimal residual disease (MRD), and validated the results on a cohort of 189 patients treated with MRD-directed ALL-BFM 2000 protocol. Deletion of IKZF1 was present in 14 of 206 (7%) ALL IC patients. IKZF1 deletions significantly affected event-free survival (EFS) of the ALL IC cohort (41±14% vs. 86±3%, P<0.0001).									
22897847	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Genomic profiling has identified a subtype of high-risk B-progenitor acute lymphoblastic leukemia (B-ALL) with alteration of IKZF1, a gene expression profile similar to BCR-ABL1-positive ALL and poor outcome (Ph-like ALL).									
22875627	IKZF1	Mutation	Acute Lymphoblastic Leukemia	IKZF1 gene deletions have been associated with a poor outcome in pediatric precursor B-cell acute lymphoblastic leukemia.									
22851563	IKZF1	Mutation	Acute Lymphoblastic Leukemia	Deletions of CDKN2A/B, IKZF1, PAX5, ETV6, RB1, BTG1, or EBF1 were prevalent with 101 (33%) of 304 patients harboring one and 102 (33%) harboring two or more alterations, occurring with varying frequency in all cytogenetic subgroups.									
22848414	IKZF1	Underexpression	B Acute Lymphoblastic Leukemia	Deletions of IKAROS (IKZF1) frequently occur in B-cell precursor acute lymphoblastic leukemia (B-ALL) but the mechanisms by which they influence pathogenesis are unclear. Total or partial deletions of IKZF1 were more frequent in BCR-ABL1-positive than in BCR-ABL1-negative B-ALL cases (75% vs 58%, respectively, p=0.04). Comparison of the gene expression signatures of patients carrying IKZF1 deletion vs those without showed a unique signature featured by down-regulation of B-cell lineage and DNA repair genes and up-regulation of genes involved in cell cycle, JAK-STAT signalling and stem cell self-renewal.									
22704337	IKZF1	Mutation	Myeloproliferative Neoplasm	Examples include mutations in genes encoding proteins that modify chromatin structure (EZH2, ASXL1, IDH1/2, JAK2V617F, and IKZF1) as well as epigenetic modification of genes critical for cell proliferation and survival (suppressors of cytokine signaling, polycythemia rubra vera-1, CXC chemokine receptor 4, and histone deacetylase (HDAC)).									
22699455	IKZF1	Mutation	Acute Lymphoblastic Leukemia	The most common alterations were deletions of CDKN2A/2B, IKZF1, PAX5, ETV6, fusion of ETV6-RUNX1 and deletions and/or mutations of TP53. Multivariate analysis identified IKZF1 deletion and TP53 alteration as independent predictors of inferior outcome (P=0.002 and P=0.001). In high-risk relapse patients, deletion of IKZF1 is strongly predictive of a second relapse after stem cell transplantation (P<0.001).									
22581002	IKZF1	Mutation	Acute Lymphoblastic Leukemia	After investigating common acute leukemia-related mutations in 17 genes, 12 of 31 (39%) patients were found to have at least one mutation, classified with: IKZF1 deletion (4 of 31), and EZH2 (3 of 31), ASXL1 (3 of 31), ETV6 (2 of 31), NOTCH1 (1 of 31), and TET2 (1 of 31) mutations. Array-CGH revealed genomic deletions of CDKN2A (4 of 12), IKZF1 (3 of 12), MEF2C (2 of 12), BTG1 (2 of 12), together with BCOR, EBF1, K-RAS, LEF1, MBNL1, PBX3, and RUNX1 (one of 12 each).									
22441210	IKZF1	Loss of expression	Acute Lymphoblastic Leukemia	In total, 50% of DS ALL patients had �? deletion in the B-cell development genes: PAX5 (12%), VPREB1 (18%) and IKZF1 (35%). This IKZF1 deletion was a strong independent predictor for outcome (hazard ratio EFS 3.05; P=0.001).									
22422485	IKZF1	Mutation	Childhood Acute Lymphoblastic Leukemia	Homozygosity for a variant IKZF1 allele (rs11978267) increased risk of infant AML [Odds ratio (OR)= 3.9, 95% confidence interval (CI)= 1.8-8.4]; the increased risk was similar for AML/MLL+ and MLL- cases.									
22368272	IKZF1	Mutation	Childhood B Acute Lymphoblastic Leukemia	As controversy exists regarding the prognostic significance of genomic rearrangements of CRLF2 in pediatric B-precursor acute lymphoblastic leukemia (ALL) classified as standard/intermediate-risk (SR) or high-risk (HR), we assessed the prognostic significance of CRLF2 mRNA expression, CRLF2 genomic lesions (IGH@-CRLF2, P2RY8-CRLF2, CRLF2 F232C), deletion/mutation in genes frequently associated with high CRLF2 expression (IKZF1, JAK, IL7R), and minimal residual disease (MRD) in 1061 pediatric ALL patients (499 HR and 562 SR) on COG Trials P9905/P9906. All CRLF2 genomic lesions and virtually all JAK mutations were found in high CRLF2 expressors, whereas IKZF1 deletions/mutations were distributed across the full cohort.									
22297722	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	We identified CRLF2 overexpression as an intermediate-risk marker and Ik6 variant of IKZF1 gene as a high-risk one when stratifying pediatric B-ALL cases according to cytogenetic/molecular risks.									
22237106	IKZF1	Underexpression	T Acute Lymphoblastic Leukemia	ETP ALL was characterized by activating mutations in genes regulating cytokine receptor and RAS signalling (67% of cases; NRAS, KRAS, FLT3, IL7R, JAK3, JAK1, SH2B3 and BRAF), inactivating lesions disrupting haematopoietic development (58%; GATA3, ETV6, RUNX1, IKZF1 and EP300) and histone-modifying genes (48%; EZH2, EED, SUZ12, SETD2 and EP300).									
22150304	IKZF1	Mutation (gain of function)	Acute Lymphoblastic Leukemia	Particular advances have been made in unraveling the genetics of ALL associated with overexpression of the cytokine receptor-like factor 2 gene (CRLF2), which is frequently accompanied by simultaneous activating mutations in genes encoding Ikaros (IKZF1), Janus kinase 1 (JAK1) and Janus kinase 2 (JAK2), and/or the IL-7 receptor alpha chain (IL7RA).									
22110503	IKZF1	Loss of expression	Acute Lymphoblastic Leukemia	In Philadelphia-positive ALL, deletions of the IKZF1 gene were identified as prognostically adverse factors.									
22072402	IKZF1	Mutation	Acute Lymphoblastic Leukemia	Of the 40 microdeletions identified, several targeted specific genes, with the following being repeatedly deleted: BTG1 and CDKN2A/B (29% of cases), ETV6, IKZF1, PAX5 and SERP2 (18%), and BTLA, INPP4B, P2RY8, and RB1 (12%).									
21960589	IKZF1	Copy number loss	Acute Lymphoblastic Leukemia	One twin had IKZF1 deletion and died after transplantation. IKZF1 is a secondary and probable postnatal mutation in these cases, and as a recurrent but alternative copy number change is associated with poor prognosis.									
21889209	IKZF1	SNP	Acute Lymphoblastic Leukemia	Recent studies have shown that SNPs mapping to 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B), and 14q11.2 (CEBPE) and carrier status for recessively inherited Nijmegen Breakage syndrome (NBS) influence childhood acute lymphoblastic leukemia (ALL) risk.									
21840596	IKZF1	Mutation	T Acute Lymphoblastic Leukemia	In DP thymocytes, a 50-1000 fold escalation in mRNA for Notch1 target genes Hes1 and Dtx1 preceded thymic lymphoma or leukemia and was closely correlated with the first detectable differentiation abnormalities, loss of heterozygosity (LOH) eliminating wild-type Ikzf1, and multiple missense and truncating Notch1 mutations.							Notch1	Negative regulation	DNA-binding Ikaros repressed Notch1 response in transfected cell lines and in CD4(+)8(+) (DP) thymocytes from young pre-leukemic Ikzf1(Plstc) heterozygous mice.
21750978	IKZF1	Mutation	Leukemia	Point mutations that abolish Ikaros-PP1 interaction result in functional changes in DNA-binding affinity and subcellular localization, similar to those observed in hyperphosphorylated Ikaros and/or Ikaros phosphomimetic mutants.	CK2	Negative regulation	These results demonstrate the role of CK2 kinase in lymphocyte differentiation and in regulation of Ikaros' function, and suggest that CK2 promotes leukemogenesis by inhibiting the tumor suppressor activity of Ikaros.						
21740479	IKZF1	Loss of expression	B Acute Lymphoblastic Leukemia	IKZF1 deletions predict a poor prognosis in children with B-cell progenitor acute lymphoblastic leukemia: a multicenter analysis in Taiwan. Recent genome-wide analyses have identified that an alteration of IKZF1 is associated with very poor outcomes in B-cell progenitor ALL.									
21527530	IKZF1	Mutation	Childhood B Acute Lymphoblastic Leukemia	Recurrent abnormalities affecting genes in key pathways were identified: IKZF1 (22%), CDKN2A/B (17%), PAX5 (8%), ETV6 (19%), and RB1 (37%).									
21387093	IKZF1	Mutation	Chronic Myeloid Leukemia	Aberrations were also observed in individual patients, involving regions containing known leukemia-associated genes; CDKN2A/2B, IKZF1, RB1, TLX1, AFF4.									
21383526	IKZF1	Overexpression	Ectopic ACTH Secretion Syndrome	POMC and CRHR1 mRNA levels in CD were far greater than those in EAS, whereas IKZF1, PC2, SSTR-2 and -5 mRNA levels in EAS were significantly greater than those in CD. In conclusion, differential gene expression profiles revealed more abundant mRNA expression in EAS than in CD of 1) IKZF1 with its potential implication of cell differentiation and hormone secretion, 2) PC2 with its possible enhanced processing activity of mature ACTH, and 3) SSTR-2 and -5 with their potential therapeutic application of more selective agonists in EAS patients.									
21370430	IKZF1	Mutation	Acute Lymphoblastic Leukemia	High-resolution genomic profiling of genetic alterations and gene expression has revolutionized our understanding of the genetic basis of ALL, and has identified several alterations associated with poor outcome, including mutations of the lymphoid transcription factor gene IKZF1 (IKAROS), activating mutations of Janus kinases, and rearrangement of the lymphoid cytokine receptor gene CRLF2.									
21356189	IKZF1	Loss of expression	B Acute Lymphoblastic Leukemia; T Acute Lymphoblastic Leukemia	These typically included deletions in genes associated with B- or T-cell malignancies, such as CDKN2A/B, PAX5, and IKZF1.									
21220604	IKZF1	Mutation	Myeloproliferative Neoplasm	Most patients carry an activating JAK2 or MPL mutation and a smaller subset also harbors LNK, CBL, TET2, ASXL1, IDH, IKZF1, or EZH2 mutations; the precise pathogenetic contribution of these mutations is under investigation.									
21169835	IKZF1	Mutation	High Risk Acute Leukemia	Notably, genetic alterations targeting transcriptional regulators of lymphoid development are a hallmark of B-progenitor ALL, and alteration of specific genes in this pathway, such as IKZF1 (encoding IKAROS), are associated with high-risk ALL.									
21149616	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Deletion or sequence mutation of the lymphoid transcription factor gene IKZF1 (IKAROS) is associated with a high rate of leukemic relapse, and testing for IKZF1 alterations at diagnosis may aid risk stratification. A subset of B-ALL patients with IKZF1 alterations have a transcriptional profile similar to BCR-ABL1-positive ALL, and these patients commonly have novel rearrangements and mutations resulting in aberrant cytokine receptor signaling and activation of kinase signaling cascades, including rearrangement of CRLF2 and activating mutations of Janus kinases (JAK1 and JAK2).									
21102428	IKZF1	Mutation	Acute Lymphoblastic Leukemia	Integrated use of minimal residual disease classification and IKZF1 alteration status accurately predicts 79% of relapses in pediatric acute lymphoblastic leukemia. Notably, 8 of the 11 relapsed cases in the large MRD-M group (n=81; 62%) harbored an IKZF1 alteration.									
20815030	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Small intragenic aberrations detected by MLPA, which were below the resolution of FISH for CDKN2A/B (n = 7), IKZF1 (n = 3), and PAX5 (n = 3) were confirmed by qPCR.									
20739952	IKZF1	Mutation	Acute Lymphoblastic Leukemia	Notably, genetic alteration of the lymphoid transcription factor gene IKZF1 is a hallmark of multiple subtypes of ALL with poor prognosis, including BCR-ABL1-positive lymphoid leukemia and a subset of 'BCR-ABL1-like' ALL cases that, in addition to IKZF1 alteration, harbor genetic mutations resulting in aberrant lymphoid cytokine receptor signaling, including activating mutations of Janus kinases and rearrangement of cytokine receptor-like factor 2 (CRLF2).									
20729815	IKZF1	Loss of expression	Acute lYmphoblastic Leukemia	Gene expression was correlated with cytogenetic and molecular characteristics, including presence of ABL1 mutations and IKZF1 deletion.									
20699438	IKZF1	Loss of expression	B Acute Lymphoblastic Leukemia	A second cluster, characterized by high expression of BMPR1B, CRLF2, GPR110, and MUC4; frequent deletion of EBF1, IKZF1, RAG1-2, and IL3RA-CSF2RA; JAK mutations and CRLF2 rearrangements (P < .0001); and Hispanic ethnicity (P < .001) had a very poor 4-year relapse-free survival (21.0% ± 9.5%; P < .001).									
20678159	IKZF1	Mutation	Childhood Acute Lymphoblastic Leukemia	The discovery of several novel high-risk markers, such as deletions in IKZF1 might be integrated into clinical protocols in the near future.									
20570445	IKZF1	Loss of expression	Acute Lymphoblastic Leukemia	In a high proportion of Philadelphia positive acute lymphoblastic leukaemia (ALL) patients, prognostically adverse deletions of the IKZF1 gene coding for a specific transcription factor were identified with GEP analysis, which revealed new insights in the clinical variability of this disorder.									
20508609	IKZF1	Loss of expression	Myeloproliferative Neoplasm	IKZF1 deletions were observed in both undifferentiated and differentiated myeloid cell types, indicating that IKZF1 loss does not cause differentiation arrest but rather renders progenitors susceptible to transformation, most likely through chromosomal instability. Thus, IKZF1 loss is an important step in the leukemic transformation of a subpopulation of MPN patients.									
20445578	IKZF1	Copy number loss	B Acute Lymphoblastic Leukemia	IKZF1 deletions predict relapse in uniformly treated pediatric precursor B-ALL. A targeted copy number screen in an unselected cohort of 131 precursor B-ALL cases, enrolled in the dexamethasone-based Dutch Childhood Oncology Group treatment protocol ALL9, revealed that IKZF1 deletions are significantly associated with poor relapse-free and overall survival rates.									
20428194	IKZF1	Mutation	Myeloproliferative Neoplasm	Beginning in early 2005, a number of novel mutations involving Janus kinase 2 (JAK2), Myeloproliferative Leukemia Virus (MPL), TET oncogene family member 2 (TET2), Additional Sex Combs-Like 1 (ASXL1), Casitas B-lineage lymphoma proto-oncogene (CBL), Isocitrate dehydrogenase (IDH) and IKAROS family zinc finger 1 (IKZF1) have been described in BCR-ABL1-negative MPNs. The incidence of TET2, ASXL1, CBL, IDH or IKZF1 mutations in these disorders ranges from 0 to 17%; these latter mutations are more common in chronic (TET2, ASXL1, CBL) or juvenile (CBL) myelomonocytic leukemias, mastocytosis (TET2), myelodysplastic syndromes (TET2, ASXL1) and secondary acute myeloid leukemia, including blast-phase MPN (IDH, ASXL1, IKZF1).									
20237506	IKZF1	Loss of expression	Childhood Acute Lymphoblastic Leukemia	No single aberration was linked to relapse, but four deletions, involving IKZF1, PAX5, CDKN2A/B or AK3, were recurrent.									
20139093	IKZF1	Mutation	B Acute Lymphoblastic Leukemia	Rearrangement of CRLF2 is associated with mutation of JAK kinases, alteration of IKZF1, Hispanic/Latino ethnicity, and a poor outcome in pediatric B-progenitor acute lymphoblastic leukemia. Together, these observations suggest that activation of CRLF2 expression, mutation of JAK kinases, and alterations of IKZF1 cooperate to promote B-cell leukemogenesis and identify these pathways as important therapeutic targets in this disease.									
20082691	IKZF1	Loss of expression (copy number loss)	Chronic Myeloid Leukemia	We found a unique signature of genome deletions within the immunoglobulin heavy chain (IGH) and T cell receptor regions (TCR), frequently accompanied by concomitant loss of sequences within the short arm regions of chromosomes 7 and 9, including IKZF1, HOXA7, CDKN2A/2B, MLLT3, IFNA/B, RNF38, PAX5, JMJD2C and PDCD1LG2 genes. Notably, the coincidental deletions at IGH and TCR regions appear to precede the loss of IKZF1 and/or p16 genes in CML indicating a possible involvement of RAG in these deletions.									
20013897	IKZF1	Copy number loss	Acute Lymphoblastic Leukemia	IKZF1 deletion at 7p12.1 was seen in 10 (37%) patients with the 9p instability. These findings suggest that, in ALL leukemogenesis, loss of CDKN2A and other target genes in the instability region is frequently associated with BCR/ABL1 and IKZF1 dysfunction.									
21082971	IKZF1	Mutation	Acute Lymphoblastic Leukemia	By single nucleotide polymorphism array analysis, deletions of genes such as IKAROS, PAX5 and CDKN2A-CDKN2B were frequently identified.									
27759701	IDH2	Mutation	Acute Myeloid Leukemia	Bone marrow biopsy was diagnosed with AML, not otherwise specified, with mutations of FLT3 and IDH2 (R140Q).									
27649069	IDH2	Overexpression	Lung Carcinoma	IDH2 mRNA was higher in peripheral blood lymphocytes from lung cancer patients compared to healthy subjects.									
27621679	IDH2	Mutation (gain of function)	Low Grade Glioma; Glioblastoma, IDH-Mutant; Chondrosarcoma; Intrahepatic Cholangiocarcinoma; Hematopoietic and Lymphoid Cell Neoplasm	IDH1/2 mutations define distinct subsets of cancers, including low-grade gliomas and secondary glioblastomas, chondrosarcomas, intrahepatic cholangiocarcinomas, and hematologic malignancies. Somatic point mutations in IDH1/2 confer a gain-of-function in cancer cells, resulting in the accumulation and secretion in vast excess of an oncometabolite, the D-2-hydroxyglutarate (D-2HG).									
27582470	IDH2	Mutation	Acute Myeloid Leukemia	Mutations of isocitrate dehydrogenase 1 and 2 (IDH1/2) occur in a subset of acute myeloid leukemia patients, causing metabolic and epigenetic derangements. Combining mathematical modeling and in vivo as well as ex vivo studies, we found that increased amounts of the oncometabolite d-2-hydroxyglutarate (D2-HG), produced by IDH2 mutant leukemic cells, cause contractile dysfunction in the heart.									
27577048	IDH2	Mutation	Acute Myeloid Leukemia	Mutations of isocitrate dehydrogenase 1 (IDH1) and IDH2 in acute myeloid leukemia (AML) cells produce the oncometabolite R-2-hydroxyglutarate (R-2HG) to induce epigenetic alteration and block hematopoietic differentiation.									
27568819	IDH2	Mutation (gain of function)	Acute Myeloid Leukemia	We found that patients with activating mutations, such as FLT3-ITD, had shorter TL, while those with mutations in epigenetic modifying enzymes, particularly IDH1 and IDH2, had longer TL.									
27499136	IDH2	genetic aberration	Acute Myeloid Leukemia	HOX gene expression predicts response to BCL-2 inhibition in acute myeloid leukemia. BCL-2 inhibitor sensitivity was associated with genetic aberrations in chromatin modifiers, WT1 and IDH1/IDH2.									
27466503	IDH2	Underexpression	Gastric Carcinoma	We further examined the expression levels of IDH1 and IDH2 in gastric cancer tissues and observed that IDH2 levels were significantly lower in gastric cancer tissues than in the adjacent normal tissues.							5hmC	Positive regulation	The ectopic expression of IDH2 can increase 5hmC levels in gastric cancer cells. In conclusion, our results suggested that IDH2 dysfunction is involved in 5hmC depletion during gastric cancer progression.
27461824	IDH2	Mutation	Periosteal Chondroma	A recent comprehensive study has identified the isocitrate dehydrogenase 1 (IDH1) and IDH2 mutations in conventional central and periosteal cartilaginous tumors, and it has subsequently been analyzed in intracranial chondrosarcoma and chondroma, including chondroma of the convexity dura mater.									
27460417	IDH2	Mutation	NCI CTEP SDC Astrocytoma, High Grade Sub-Category Terminology	These mutations mostly involve Arg132 in IDH1, and Arg172 or Arg140 in IDH2.									
27447873	IDH2	Mutation	Myeloproliferative Neoplasm	Contrarily, DNA methylation genes (DNMT3A, IDH1, IDH2 and TET2) were mutated most often in PV (0·5) and less frequently in ET (0·23) and PMF (0·20), but without reaching statistical significance.									
27427385	IDH2	Mutation	Low Grade Glioma; Acute Myeloid Leukemia; Chondrosarcoma	A major advance in understanding the progression and prognostic outcome of certain cancers, such as low-grade gliomas, acute myeloid leukaemia, and chondrosarcomas, has been the identification of early-occurring mutations in the NADP(+)-dependent isocitrate dehydrogenase genes IDH1 and IDH2. These mutations result in the production of the onco-metabolite D-2-hydroxyglutarate (2HG), thought to contribute to disease progression.									
27359055	IDH2	Mutation	Acute Myeloid Leukemia	We selected 19 significantly-mutated genes in AMLs, including FLT3, DNMT3A, NPM1, TET2, RUNX1, CEBPA, WT1, IDH1, IDH2, NRAS, ASXL1, SETD2, PTPN11, TP53, KIT, JAK2, KRAS, BRAF and CBL, and performed massively parallel sequencing for 114 patients with acute myeloid leukemias, mainly including those with normal karyotypes (CN-AML).									
27355333	IDH2	Mutation (gain of function)	Glioma; Acute Myeloid Leukemia; Cholangiocarcinoma; Chondrosarcoma	Recurrent mutations in IDH1 or IDH2 are prevalent in several cancers including glioma, acute myeloid leukemia (AML), cholangiocarcinoma and chondrosarcoma. The mutated IDH1 and IDH2 proteins have a gain-of-function, neomorphic activity, catalyzing the reduction of α-ketoglutarate (α-KG) to 2-hydroxyglutarate (2-HG) by NADPH.									
27353503	IDH2	Mutation	Malignant Glioma	IDH1 and IDH2 mutations were mutually exclusive, and all mutated tumors were collapsed into one IDH-mutated cohort.				IDH2	Mutually exclusive mutation	IDH1 and IDH2 mutations were mutually exclusive, and all mutated tumors were collapsed into one IDH-mutated cohort.			
27334978	IDH2	Mutation	Grade II Glioma; WHO Grade III Glioma	Mutations in the IDH1/2 genes are central to gliomagenesis in a high proportion of grade II and III gliomas, and ongoing trials are examining vaccines against IDH1, small molecular inhibitors of IDH1 and IDH2, and metabolic components including NAD+ depletion to target IDH-mutated gliomas.									
27292784	IDH2	Mutation (gain of function)	Low Grade Glioma; Leukemia	Genetic gain-of-function mutations in IDH1 and IDH2 confers a neomorphic activity that allows reduction of α-KG to (R)-2-hydroxyglutarate, the accumulation of which results in the development of cancers like low grade gliomas and leukemia.									
27245697	IDH2	Mutation	Low Grade Glioma; Glioblastoma, IDH-Mutant	Mutations in isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) are frequent in low-grade gliomas and secondary glioblastomas (sGBM).				IDH1; PTEN ; P53; ATRX	Mutually exclusive	We found that IDH1 and IDH2 are mutually exclusive in gliomas, and IDH2 mutations are mutually exclusive with PTEN, P53 and ATRX mutations.			
27231123	IDH2	Mutation	Intrahepatic Cholangiocarcinoma	Intrahepatic cholangiocarcinoma (ICC) is an aggressive liver bile duct malignancy exhibiting frequent isocitrate dehydrogenase (IDH1/IDH2) mutations.									
27151043	IDH2	Mutation	Acute Myeloid Leukemia	The isocitrate dehychogenase 2 (IDH2) gene mutation has been recently found, which may be associated with the course of AML. The incidence of IDH2 gene mutation in the patients with acute myeloid leukemia is high, especially in the AML patients with normal karyotype. Different subtypes of IDH2 mutation, or companing other molecular biology, will make different influence on clinical features and progress of patients with AML. IDH2 mutation is stable, which can be used as the test sign of AML and minimal residual disease (MRD), and for guiding the clinical treatment and predicting the progress.									
27137476	IDH2	Mutation	Acute Myeloid Leukemia	RUNX1 mutations were found in 245 of 2439 (10%) patients; were almost mutually exclusive of AML with recurrent genetic abnormalities; and they co-occurred with a complex pattern of gene mutations, frequently involving mutations in epigenetic modifiers (ASXL1, IDH2, KMT2A, EZH2), components of the spliceosome complex (SRSF2, SF3B1) and STAG2, PHF6, BCOR.				RUNX1	Co-existing mutation	RUNX1 mutations were found in 245 of 2439 (10%) patients; were almost mutually exclusive of AML with recurrent genetic abnormalities; and they co-occurred with a complex pattern of gene mutations, frequently involving mutations in epigenetic modifiers (ASXL1, IDH2, KMT2A, EZH2), components of the spliceosome complex (SRSF2, SF3B1) and STAG2, PHF6, BCOR.			
27116977	IDH2	Mutation (gain of function)	Glioma	Gain-of-function mutations in isocitrate dehydrogenases (IDH1 and IDH2) promote diffuse glioma formation through epigenetic reprogramming of a number of genes, including immune-related genes.									
27050425	IDH2	Mutation	Acute Myeloid Leukemia	Median OS was 2.8 years among 14 patients with intermediate cytogenetics and favorable mutational profiles (mutant NPM1 and mutant IDH1 or IDH2) and 1.3 years among patients with intermediate mutational profiles. However, mutations in six out of the nine genes can be used to characterize survival (NPMI, IDH1, IDH2, FLT3-ITD, TET2, DNMT3A) and allow for more robust prognostication in the patients who are re-categorized by the IGP model.									
27014635	IDH2	Mutation	Low Grade Glioma; Glioblastoma, IDH-Mutant; Acute Myeloid Leukemia	Most notably, cytosolic IDH1 is mutated in 70-90% of low-grade gliomas and upgraded glioblastomas, and mitochondrial IDH2 is mutated in ~20% of acute myeloid leukemia cases.									
27014623	IDH2	Mutation (gain of function)	Glioma	D2HG is generated in large amounts due to various gain-of-function mutations in the isocitrate dehydrogenases IDH1 and IDH2.							D2HG	positive regulation	D2HG is generated in large amounts due to various gain-of-function mutations in the isocitrate dehydrogenases IDH1 and IDH2.
27005468	IDH2	Mutation	Glioma; Acute Myeloid Leukemia; Myelodysplastic Syndrome	Isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are key metabolic enzymes, converting isocitrate to α-ketoglutarate (αKG).IDH1 and IDH2 mutations have been identified in multiple tumor types, including gliomas and myeloid malignancies such as acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS).									
26975364	IDH2	Mutation	Glioblastoma	Among these subgroups, IDH GBMs carry mutations within IDH1 or IDH2 The K27 and G34 subgroups are characterized by distinct mutations within Histone 3 (H3).									
26948350	IDH2	Mutation	Glioma	We review the current state of diagnostic molecular markers for gliomas, focusing on isocitrate dehydrogenase 1 or 2 (IDH1/IDH2) gene mutation, α-thalassemia/mental retardation syndrome X-linked (ATRX) gene mutation, 1p/19q co-deletion and telomerase reverse transcriptase (TERT) promoter mutation in adult tumors, as well as v-raf murine sarcoma viral oncogene homolog B1 (BRAF) and H3 histone family 3A (H3F3A) aberrations in pediatric gliomas.									
26943899	IDH2	Mutation	Acute Myeloid Leukemia	Ward and colleagues demonstrate the mutations in isocitrate dehydrogenase 2 (IDH2), commonly found in acute myeloid leukemia (AML), abrogate the enzyme's wild-type activity and confer to the mutant neomorphic activity that produces the oncometabolite 2-hydroxyglutarate (2-HG) (Figures 2 and 3). They then show that elevated levels of 2-HG are correlated with mutations in IDH1 and IDH2 in AML patient samples (Figure 5).				2HG	Mutation-induced positive correlation	They then show that elevated levels of 2-HG are correlated with mutations in IDH1 and IDH2 in AML patient samples (Figure 5).			
26927648	IDH2	Mutation	Malignant Glioma	To date, four major biomarkers have been described for high-grade gliomas: 1p/19q deletion, O6-methylguanine-DNA methyltransferase (MGMT) promoter mutation, IDH1/IDH2 mutation, and microRNA.									
26920730	IDH2	Mutation	Maffucci Syndrome; Intrahepatic Choloangiocarcinoma	Heterozygous somatic mutations in the isocitrate dehydrogenase 1 and 2 (IDH1/IDH2) genes are associated with a number of different tumor types (e.g. IHCC) and also with Maffucci syndrome. For IHCC, mutations in IDH1/IDH2 are associated with higher survival rates.									
26880370	IDH2	Mutation	T Acute Lymphoblastic Leukemia	Here we used whole genome next generation sequencing (NGS) of uncultured freshly isolated ATL samples and identified the presence of mutations in SUZ12, DNMT1, DNMT3A, DNMT3B, TET1, TET2, IDH1, IDH2, MLL, MLL2, MLL3 and MLL4.									
26859452	IDH2	Mutation	Glioma	Glioma-associated mutations in IDH1 or IDH2 lead to aberrant DNA methylation.									
26834160	IDH2	Mutation	Glioma	Recurrent mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes, which are frequent in gliomas, result in marked accumulation of the metabolic by-product 2-hydroxyglutarate (2-HG) within tumors.				2HG	Mutation-induced positive correlation	Recurrent mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes, which are frequent in gliomas, result in marked accumulation of the metabolic by-product 2-hydroxyglutarate (2-HG) within tumors.			
26819452	IDH2	Mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma; Intrahepatic Cholangiocarcinoma	IDH1 and IDH2 are homodimeric enzymes that catalyze the conversion of isocitrate to α-ketoglutarate (α-KG) and concomitantly produce reduced NADPH from NADP(+). Mutations in the genes encoding IDH1 and IDH2 have recently been found in a variety of human cancers, most commonly glioma, acute myeloid leukemia (AML), chondrosarcoma, and intrahepatic cholangiocarcinoma.									
26699864	IDH2	Mutation	Diffuse Glioma	Of these, IDH1 or IDH2 mutations are associated with lowest hazard ratio, which confirms IDH as the most important prognostic marker in diffuse gliomas.									
26669865	IDH2	Mutation	Glioma	Notably, IDH2 mutation produced more 2-HG than IDH1 mutation, consistent with previous findings in cell culture.				2HG	Mutation-induced positive correlation	Notably, IDH2 mutation produced more 2-HG than IDH1 mutation, consistent with previous findings in cell culture.			
26668680	IDH2	Mutation	Essential Thrombocythemia; Primary Myelofibrosis	Mutant IDH (IDH1 or IDH2) was documented in five of PMF (6.5%) and two of ET patients (1.9%). Of the five IDH-mutated PMF patients, four (80%) displayed IDH1 (three IDH1 R132C and one IDH1 R132S) and one (20%) carried IDH2 (IDH2 R140Q) mutation.									
26635288	IDH2	Underexpression	Esophageal Squamous Cell Carcinoma	Further, IDH2 mRNA levels were down-regulated in ESCC (tumour:normal-fold change = 0.69, P = .75E-14).									
26617922	IDH2	Mutation	Angioimmunoblastic T-Cell Lymphoma	Angioimmunoblastic T-cell lymphoma (AITL) is an aggressive peripheral T-cell lymphoma with mutations in genes encoding isocitrate dehydrogenase1 and 2 (IDH1 and IDH2).									
26590767	IDH2	Mutation	Acute Myeloid Leukemia	Mutations in the active site of IDH1 at position R132 and an analogous mutation in the IDH2 gene at position R172 have been discovered.									
26562302	IDH2	Mutation	Myeloid Neoplasm	In the present study, the mutational profile of the Tet methylcytosine dioxygenase 2 (TET2), the isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2), the serine/arginine-rich splicing factor 2 (SRSF2), the splicing factor 3b subunit 1 (SF3B1), the Kirsten rat sarcoma viral oncogene homolog (KRAS) and the neuroblastoma RAS viral oncogene homolog (NRAS), commonly mutated in human myeloid malignancies and mastocytosis, was investigated in canine MCTs.									
26553750	IDH2	Mutation	Glioma; Acute Myeloid Leukemia; Angioimmunoblastic T-Cell lymphoma; Chondrosarcoma; Intrahepatic Cholangiocarcinoma	Mutations in mitochondrial IDH2, one of the three isoforms of IDH, were discovered in patients with gliomas in 2009 and subsequently described in acute myelogenous leukemia (AML), angioimmunoblastic T-cell lymphoma, chondrosarcoma, and intrahepatic chloangiocarcinoma.									
26553362	IDH2	Underexpression	Gastric Carcinoma	We found that the IDH2 levels significantly decreased in GC, and were even lower in GC with metastases, compared to those without metastases.									
26486786	IDH2	Mutation	Essential Thrombocythemia	Next-generation sequencing identified additional mutations in 6 patients (affecting TET2, ASXL1, IDH2, and TP53 genes).									
26452980	IDH2	Mutation	Acute Myeloid Leukemia	Moreover, INK128 co-administered with the Bcl-2/xL antagonist ABT-737 sharply induced cell death in multiple acute myeloid leukemia cell lines, including TKI-resistant FLT3-ITD mutants and primary acute myeloid leukemia blasts carrying various genetic aberrations e.g., FLT3, IDH2, NPM1, and Kras, while exerting minimal toxicity toward normal hematopoietic CD34(+) cells.									
26331834	IDH2	Mutation	Acute Myeloid Leukemia; Myelodysplastic Syndrome	Over a 6-month period of clinical testing with a targeted next-generation sequencing assay, we evaluated 92 patients with acute myeloid leukemia, myelodysplastic syndrome, and chronic myelomonocytic leukemia and identified a subset of 21 patients (23%) who harbored mutations in either IDH1 or IDH2. Of the 21 patients with IDH mutations, 4 (19%) were found to have single nucleotide variants in both IDH1 and IDH2.									
26320466	IDH2	Underexpression	Cholangiocarcinoma	In human cases, expression of HGD, IDH1 and IDH2 was decreased more than 2 fold in 55 cases (70.5%), 25 cases (32.1%) and 24 cases (30.8%) respectively.									
26303387	IDH2	Mutation	Oligodendroglioma; Diffuse Astrocytoma	Somatic mutations in the isocitrate dehydrogenase 1 or 2 (IDH1/IDH2) genes were detected in 96% of LGO and 91% of LGA.									
26717876	ING2	altered expression	Breast Carcinoma; Cervical Carcinoma; Endometrial Carcinoma	Compared with that in the respective normal tissues, ING2 expression in breast cancer tissues was decreased, while that in cervical cancer was upregulated in the nuclei as well as the cytoplasm. In endometrial cancer, expression of ING2 was increased in the nuclei and declined in the cytoplasm compared with that in the normal endometrium.									
26191234	IDH2	Mutation	Glioblastoma, IDH-Wildtype	We identified 53 missense or nonsense mutations in 27 genes including some novel mutations such as APC and IDH2.									
26189213	IDH2	Mutation	Acute Myeloid Leukemia	Prevalence and Clinical Effect of IDH1 and IDH2 Mutations Among Cytogenetically Normal Acute Myeloid Leukemia Patients. The frequencies of isocitrate dehydrogenase (IDH) 1 and IDH2 mutations among patients with de novo acute myeloid leukemia (AML) are different among different ethnic groups.									
26111463	IDH2	Mutation	Acute Myeloid Leukemia	In recent years, mutations in the IDH1 and IDH2 genes have been discovered across a range of malignancies, including AML, raising hope for effective targeted therapies.									
26110659	IDH2	Mutation	Acute Myeloid Leukemia	For example, in acute myeloid leukemia (AML) higher epigenetic age-predictions are associated with increased incidence of mutations in RUNX1, WT1, and IDH2, whereas mutations in TET2, TP53, and PML-PARA translocation are more frequent in younger age-predictions.									
26046462	IDH2	Mutation	Enchondroma	Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a somatic mosaic fashion in patients with multiple enchondromas.									
26015937	IDH2	Mutation	Glioma	The discovery of novel mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) provides new biomarkers as points of stratification of gliomas based on prognosis and treatment response.									
26007236	IDH2	Mutation	Grade II Glioma; WHO Grade III Glioma; Glioblastoma, IDH-Mutant; Acute Myeloid Leukemia	Both idh2 and idh1 monoallelic mutations are harbored in grade 2/3 gliomas, secondary glioblastomas and acute myeloid leukemia.									
25980633	IDH2	Mutation	Glioma	The isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes mutate frequently in gliomas, and it has become increasingly apparent that IDH mutation status accounts for much of the prognostic information previously rendered by histological grading.									
25975377	IDH2	Mutation	Astrocytoma	The majority of diffusely infiltrating astrocytomas regardless of WHO grade have concurrent mutations of IDH1 or IDH2, TP53 and ATRX.									
25956465	IDH2	Mutation	Acute Myeloid Leukemia; Low Grade Glioma; Chondrosarcoma	Specific point mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) occur in a variety of cancers, including acute myeloid leukemia (AML), low-grade gliomas, and chondrosarcomas.									
25943885	IDH2	Mutation	Oligodendroglioma	More recently described biomarkers, including the non-balanced translocation leading to 1p/19q codeletion, promoter hypermethylation of the MGMT gene, mutations of the IDH1 or IDH2 gene, and mutations of FUBP1 (on 1p) or CIC (on 19q), have greatly enhanced our understanding of oligodendroglioma biology, although their diagnostic, prognostic, and predictive roles are less clear.									
25895133	IDH2	Mutation	Glioma; Leukemia; Chondrosarcoma	Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a subset of benign and malignant cartilage tumors, gliomas and leukaemias. Compared to IDH1/2 wildtype cell lines, chondrosarcoma cell lines harboring an endogenous IDH1 (n=3) or IDH2 mutation (n=2) showed up to a 100-fold increase in intracellular and extracellular D-2-HG levels.							D2HG	positive regulation	Compared to IDH1/2 wildtype cell lines, chondrosarcoma cell lines harboring an endogenous IDH1 (n=3) or IDH2 mutation (n=2) showed up to a 100-fold increase in intracellular and extracellular D-2-HG levels.
25894340	IDH2	SNP	Hepatocellular Carcinoma	We identified 7 SNPs in SDHC, SDHD, FH, and IDH2 genes to be significantly associated with the RFS of HCC patients.									
25891904	IDH2	Mutation	Acute Myeloid Leukemia	We show very high concordance between HRM and Sanger sequencing (100% samples for IDH2-R140 and DNMT3-R882 mutations, 99% samples for IDH1-R132 and IDH2-R172 mutations).									
25836588	IDH2	Mutation	Myeloid Neoplasm	Variant allelic frequencies indicated that IDH1(MT) and IDH2(MT) are ancestral in up to 14/74 (19%) vs 34/99 (34%; P=0.027) of cases, respectively, illustrating the pathogenic role of these lesions in myeloid neoplasms.									
25795706	IDH2	Mutation	Acute Myeloid Leukemia	IDH2 and NPM1 Mutations Cooperate to Activate Hoxa9/Meis1 and Hypoxia Pathways in Acute Myeloid Leukemia. Taken together, our results indicated that IDH2 mutation is critical for the development and maintenance of AML stem-like cells, and they provided a preclinical justification for targeting mutant IDH enzymes as a strategy for anticancer therapy.							5hmc modification; Ebf1; Spib	Negative regulation	IDH2/R140Q decreased the 5hmC modification and expression of some differentiation-inducing genes (Ebf1 and Spib).
25753205	IDH2	Mutation	Glioma; Osteosarcoma; Chondrogenic Neoplasm; Giant Cell Tumor of Bone; Acute Myeloid Leukemia	Isocitrate dehydrogenase 2 (IDH2) mutations have been reported in gliomas, osteosarcomas, cartilaginous tumors, giant cell tumors of bone, and acute myeloid leukemias.									
25730874	IDH2	Mutation	Enchondroma	Somatic mutations in the isocitrate dehydrogenase genes (IDH1 and IDH2) are present in the majority of these tumor types.									
25727224	IDH2	Mutation	Low Grade Glioma	Mutations in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes suggest a role for this abnormal metabolic pathway in the pathogenesis and progression of these primary brain tumors.									
25696868	IDH2	Mutation	Myeloproliferative Neoplasm	Other mutations in several epigenetic modifiers, such as ASXL1, DNMT3a, TET2, EZH2, IDH1, and IDH2, as well as in genes involved in mRNA splicing, such as SF3B1 and U2AF2, have also been described in recent years in patients with MPNs, and evidence is emerging as to how these may be contributing to disease biology.									
25694352	IDH2	Mutation	Oligodendroglioma	Causal genetic changes in oligodendrogliomas (OD) with 1p/19q co-deletion include mutations in IDH1, IDH2, CIC, FUBP1, TERT promoter and NOTCH1. Whole-genome sequencing identified a total of 55 coding mutations (range 8-32 mutations per tumor), including known abnormalities in IDH1, IDH2, CIC and FUBP1.									
25651001	IDH2	Mutation	Acute Myeloid Leukemia	Mutations in IDH1 and IDH2 occur in 15-20% of AML cases, resulting in the production of 2-hydroxyglutarate, which promotes aberrant hypermethylation of DNA in leukemic cells.							2HG	positive regulation	Mutations in IDH1 and IDH2 occur in 15-20% of AML cases, resulting in the production of 2-hydroxyglutarate, which promotes aberrant hypermethylation of DNA in leukemic cells.
25601757	IDH2	Mutation	Acute Myeloid Leukemia	Here we report that WT1, a sequence-specific transcription factor, is mutated in a mutually exclusive manner with TET2, IDH1, and IDH2 in acute myeloid leukemia (AML).				WT1	Mutually exclusive mutation	Here we report that WT1, a sequence-specific transcription factor, is mutated in a mutually exclusive manner with TET2, IDH1, and IDH2 in acute myeloid leukemia (AML).			
25599133	IDH2	Mutation	Acute Myeloid Leukemia	IDH1- and IDH2-mutant primary human AML cells were more sensitive than IDH1/2 wild-type cells to ABT-199, a highly specific BCL-2 inhibitor that is currently in clinical trials for hematologic malignancies, both ex vivo and in xenotransplant models.									
25586680	IDH2	Mutation (gain of function)	Colorectal Carcinoma	The mutated forms of IDH1 and IDH2 produce an oncogenic metabolite, D-2-hydroxyglutarate (D2HG). The study of OxPhos-related genes revealed that an imbalance between the expression of IDH1 and IDH2, defined as overexpression of one isoform in relation to the other, was associated with worse prognosis in CRC patients.							D2HG	positive regulation	The mutated forms of IDH1 and IDH2 produce an oncogenic metabolite, D-2-hydroxyglutarate (D2HG).
25565925	IDH2	Mutation	Maffucci Syndrome; Enchondromatosis	No PTHR1 mutations have been detected in MS, whereas somatic IDH1 and, more rarely, IDH2 mutations have been observed in 77% of patients with MS and 81% of patients with OD.									
26948489	IDH2	Mutation	Glioblastoma	Somatic mutations in IDH1 and IDH2 are described in glioblastomas (GBMs).									
25523507	IDH2	Mutation	Acute Myeloid Leukemia	Prognosis was adversely affected by high IDH1 expression, with shorter overall survival and event-free survival in the context of clinical characteristics, including age, WBC count, and gene mutations of NPM1, FLT3-ITD, CEBPA, IDH1, IDH2 and DNMT3A in CN-AML.									
25512507	IDH2	Mutation	Acute Myeloid Leukemia	Distinctive lncRNA profiles were found associated with selected mutations, such as internal tandem duplications in the FLT3 gene (FLT3-ITD) and mutations in the NPM1, CEBPA, IDH2, ASXL1, and RUNX1 genes.									
25499150	IDH2	Mutation	Myelodysplastic Syndrome	The most common driver gene mutations detected in patients with MDS include RNA splicing (SF3B1,SRSF2,U2F1,ZRSR2), DNA methylation (TET2,DNMT3A,IDH1/IDH2), chromatin modification (ASXL1,EZH2), transcription regulation (RUNX1,BCOR) and DNA repair control p53.									
25495392	IDH2	Mutation	Low Grade Glioma; Malignant Glioma; Glioblastoma; Grade II Glioma	IDH2 mutation in gliomas including novel mutation. Mutations in two isocitrate dehydrogenase (IDH) genes, IDH1 and IDH2, commonly occur in low-grade gliomas and secondary high-grade gliomas, but are rare in primary GBMs. IDH2 mutation was found in 3.3% of GBMs (3/90 cases) and 9.0% (4/44) of grades II to III gliomas.									
25486927	IDH2	Mutation	Glioblastoma; Acute Myeloid Leukemia	Mutations of isocitrate dehydrogenase isoform 1 and 2 (IDH1 and IDH2) genes have been identified in glioblastoma and acute myeloid leukemia (AML).									
25485496	IDH2	Mutation (gain of function)	Intrahepatic Cholangiocarcinoma	These tumors are characterized by frequent gain-of-function mutations in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes-that are also common in subsets of neural, haematopoietic and bone tumors, but rare or absent in the other types of gastrointestinal malignancy.									
25482556	IDH2	Mutation	Acute Myeloid Leukemia	The observation that WT1 inactivating mutations anticorrelate with TET2/IDH1/IDH2 mutations in acute myeloid leukemia (AML) led us to hypothesize that WT1 mutations may impact TET2 function.				WT1	mutually exclusive mutation (loss of function)	The observation that WT1 inactivating mutations anticorrelate with TET2/IDH1/IDH2 mutations in acute myeloid leukemia (AML) led us to hypothesize that WT1 mutations may impact TET2 function.			
25427834	IDH2	Mutation	Diffuse Glioma	Further, all patients with 1p/19 codeletion carried a mutation in IDH1 or IDH2.				1p/19 codeletion	Co-existing	Further, all patients with 1p/19 codeletion carried a mutation in IDH1 or IDH2.			
25398940	IDH2	Mutation	Acute Myeloid Leukemia	Mutations of IDH1 and IDH2, which produce the oncometabolite 2-hydroxyglutarate (2HG), have been identified in several tumors, including acute myeloid leukemia.							2HG	positive regulation	Mutations of IDH1 and IDH2, which produce the oncometabolite 2-hydroxyglutarate (2HG), have been identified in several tumors, including acute myeloid leukemia.
25398939	IDH2	Mutation (gain of function)	Leukemia	Gain-of-function mutations in nicotinamide adenine dinucleotide phosphate-dependent isocitrate dehydrogenase (IDH)1 and IDH2 frequently arise in human leukemias and other cancers and produce high levels of D-2-hydroxyglutarate (D-2HG).							2HG	Mutation-induced positive regulation	Gain-of-function mutations in nicotinamide adenine dinucleotide phosphate-dependent isocitrate dehydrogenase (IDH)1 and IDH2 frequently arise in human leukemias and other cancers and produce high levels of D-2-hydroxyglutarate (D-2HG).
25398938	IDH2	Mutation	Acute Myeloid Leukemia	We found that mutations in WT1, IDH2, and CEBPA were strongly linked to DNA hypermethylation in AML using a novel integrative analysis of The Cancer Genome Atlas data based on Boolean implications, if-then rules that identify all individual CpG sites that are hypermethylated in the presence of a mutation.									
25398843	IDH2	Mutation	Grade II Glioma; WHO Grade III Glioma	Recent examples such as the identification of mutations in IDH1 and IDH2 as an early genetic event that is predominantly in lower-grade gliomas (grades 2 and 3) underscore the importance of molecular discovery leading to the ability to develop subclassifications with prognostic and potentially therapeutic implications.									
25355558	IDH2	SNP	Hepatocellular Carcinoma	Five functional SNPs in IDH1 and IDH2 genes were genotyped using the Sequenom iPLEX genotyping system in a cohort of 419 unresectable Chinese HCC patients treated with TACE.									
25331842	IDH2	Mutation	Chondrosarcoma	Recently, mutations in isocitrate dehydrogenase-1 (IDH1) and isocitrate dehydrogenase-2 (IDH2) were identified in central chondrosarcomas.									
25324168	IDH2	Mutation	Glioma	In gliomas, IDH mutations uniformly occur in the functionally critical arginine 132 residue (R132) of IDH1 and arginine 172 residue (R172) of IDH2.									
25185240	IDH2	Mutation	Breast Carcinoma	When tumor samples were analyzed, 12 of 17 (71%, 95% confidence interval (CI) 44% to 90%) patients had �? mutation (median 1 mutation per patient, range 0-2 mutations) in either p53, PIK3CA, PTEN, AKT1 or IDH2 gene. When plasma samples were analyzed, 12 of 17 (71%, 95% CI: 44-90%) patients had �? mutation (median 1 mutation per patient, range 0-2 mutations) in either p53, PIK3CA, PTEN, AKT1, IDH2 and SMAD4.									
25115387	IDH2	Mutation	Blastic Plasmacytoid Dendritic Cell Neoplasm	We detected point mutations in NRAS (27.3% of cases), ATM (21.2%), MET, KRAS, IDH2, KIT (9.1% each), APC and RB1 (6.1%), as well as in VHL, BRAF, MLH1, TP53 and RET1 (3% each). Moreover, NRAS-, KRAS- and ATM-mutations were found to be mutually exclusive and we observed recurrent mutations in NRAS, IDH2, APC and ATM.									
25043045	IDH2	Mutation	Intrahepatic Cholangiocarcinoma	Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are among the most common genetic alterations in intrahepatic cholangiocarcinoma (IHCC), a deadly liver cancer.									
25022553	IDH2	Mutation	Acute Myeloid Leukemia	Twenty gene mutations including class I, class II, class III of epigenetic regulators (IDH1, IDH2, TET2, DNMT3A, MLL-PTD, ASXL1, and EZH2), and class IV (tumor suppressor genes) were analyzed in 67 patients with AML-M0. The most frequent gene mutations from our data were FLT3-ITD/FLT3-TKD (28.4%), followed by mutations in IDH1/IDH2 (28.8%), RUNX1 (23.9%), N-RAS/K-RAS (12.3%), TET2 (8.2%), DNMT3A (8.1%), MLL-PTD (7.8%), and ASXL1 (6.3%).									
25017477	IDH2	Mutation	Acute Myelopid Leukemia; Myeloproliferative Neoplasm	Thirty samples with known mutations in JAK2, NPM1, DNMT3A, MPL, IDH1, IDH2, CEBPA, and FLT3, were profiled and sequenced to high depth.									
24995286	IDH2	Mutation	Chondrosarcoma; Cholangiosarcoma; Acute Myeloid Leukemia	A recent research of cancer has indicated that the mutant of isocitrate dehydrogenase 1 and 2 (IDH1 and 2) genes will induce various cancers, including chondrosarcoma, cholangiocarcinomas, and acute myelogenous leukemia due to the effect of point mutations in the active-site arginine residues of isocitrate dehydrogenase (IDH), such as IDH1/R132, IDH2/R140, and IDH2/R172.									
24989313	IDH2	Mutation	Myelodysplastic Syndrome	Patients with IDH1 mutation have a shorter overall survival and a higher risk of AML transformation than that of patients with wild-type IDH1, while IDH2 was a poor prognostic factor for overall survival in patients with lower-risk MDS.									
24986689	IDH2	Mutation	Acute Myeloid Leukemia	Patients with acute myeloid leukemia (AML) frequently harbor mutations in genes involved in the DNA (hydroxy)methylation pathway (DNMT3A, TET2, IDH1, and IDH2).									
24952577	IDH2	Mutation	WHO Grade III Glioma; Glioblastoma	Genome-wide array comparative genomic hybridisation (aCGH), mutation analysis of IDH1/2 and TP53 and methylation analyses of the MGMT CpG-island was done.84% of grade III tumours and 17% of grade IV had IDH1 or IDH2 mutations that conferred a better prognosis in both; MGMT methylation (defined as average value across 16 CpGs�?0%) occurred in 75% of tumours and was also associated with improved survival.									
24942948	IDH2	Mutation	Acute Myeloid Leukemia	Recent advances in comprehensive genomic analyses in acute myeloid leukemia have revealed prevalent mutations in regulators of epigenetic phenomena including global DNA methylation status. The examples include mutations in isocitrate dehydrogenase 1 (IDH1), IDH2, and ten-eleven translocation 2.									
24889502	IDH2	Mutation	Glioma	Mutations in isocitrate dehydrogenase genes IDH1 or IDH2 are frequent in glioma, and IDH mutation status is a strong diagnostic and prognostic marker.									
24880135	IDH2	Mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma; Intrahepatic Cholangiocarcinoma; Angioimmunoblastic T-Cell Lymphoma	Mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are key events in the development of glioma, acute myeloid leukemia (AML), chondrosarcoma, intrahepatic cholangiocarcinoma (ICC), and angioimmunoblastic T-cell lymphoma.									
24877111	IDH2	Mutation	Oligodendroglial Tumor	We found that the distribution of IDH1(R132H) , IDH1(nonR132H) , and IDH2 mutations differed between astrocytic, mixed, and oligodendroglial tumors, with an overrepresentation of IDH2 mutations in oligodendroglial phenotype and an overrepresentation of IDH1(nonR132H) in astrocytic tumors.									
24868540	IDH2	Mutation	Glioblastoma	Mutations in genes encoding isocitrate dehydrogenase isoforms 1 (IDH1) and 2 (IDH2) have been associated with good prognosis for patients with brain neoplasias and have been commonly found together with mutated TP53 gene. IDH1 mutations were detected in 13 and IDH2 mutation in one patient.									
24867525	IDH2	Mutation	Acute Myeloid Leukemia	Firstly, by analyzing biomarkers associated with AML, to assist normal clinical tests, we confirmed that the patient was anormal karyo type, with NPM1 and IDH2 mutations and deregulation patterns of related genes, such as BAALC, ERG, MN1 and HOX family.									
24859829	IDH2	Mutation	Acute Myeloid Leukemia	We found that 16.1 % of patients had TET2 mutations, 31.6 % had FLT3 internal tandem duplications (ITDs), 6.2 % had FLT3 tyrosine kinase domain mutations, 2.4 % had c-KIT mutations, 37.8 % had NPM1 mutations, 11.3 % had WT1 mutations, 5.9 % had RUNX1 mutations, 11.5 % had ASXL1 mutations, 3.8 % had MLL-PTDs, 7.8 % had IDH1 mutations, 7.8 % had NRAS mutations, 12.3 % had IDH2 mutations, 1.6 % had EZH2 mutations, and 14.7 % had DNMT3A mutations, while none had CBL mutations.									
24760710	IDH2	Mutation	Acute Myeloid Leukemia; Glioma; Chondrosarcoma; Cholangiocarsinoma	Mutations in the IDH1 and IDH2 (isocitrate dehydrogenase) genes have been discovered across a range of solid-organ and hematologic malignancies, including acute myeloid leukemia, glioma, chondrosarcoma, and cholangiocarcinoma.									
24747768	IDH2	Mutation	Low Grade Glioma; Glioblastoma, IDH-Mutant	One such difference concerns mutations in the NADP(+)-dependent isocitrate dehydrogenase (IDH1 and IDH2) genes, which occur in >80% of cases of low grade glioma and secondary glioblastoma.									
24722048	IDH2	Mutation	Malignant Glioma	Frequent mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) and the promoter of telomerase reverse transcriptase (TERT) represent two significant discoveries in glioma genomics.									
24716838	IDH2	Underexpression	Hepatocellular Carcinoma	The expression of 5-hydroxymethylcytosine (5-hmC) and isocitrate dehydrogenase 2 (IDH2) is frequently downregulated in numerous cancers. 5-hmC and IDH2 expression in hepatocellular carcinoma (HCC) has yet to be determined. We discovered that low 5-hmC and IDH2 expression was associated with malignant behaviors.									
24699305	IDH2	Mutation	Acute Myeloid Leukemia	In particular, frequent mutation has been observed in the genes encoding DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2), as well as Tet oncogene family member 2.									
24609756	IDH2	genetic aberration	Acute Myeloid Leukemia	Several new recurrent genetic molecular abnormalities have recently been identified, including TET2, ASXL1, IDH1, IDH2, DNMT3A, and PHF6.									
24590286	IDH2	Mutation	Acute Myeloid Leukemia	We previously reported that SPARC was among the most upregulated genes in cytogenetically normal acute myeloid leukemia (CN-AML) patients with gene-expression profiles predictive of unfavorable outcome, such as mutations in isocitrate dehydrogenase 2 (IDH2-R172) and overexpression of the oncogenes brain and acute leukemia, cytoplasmic (BAALC) and v-ets erythroblastosis virus E26 oncogene homolog (ERG).									
27040643	ASH1L	copy number gain	Hepatocellular Carcinoma	By integrating our results with copy number variation analyses, we observed that GNPAT, PPOX and five of the methyltransferase genes (ASH1L, METTL13, SMYD2, TARBP1 and SMYD3), which are all located on chromosome 1q, had increased copy numbers in the cancer samples relative to the normal samples.									
27040643	SMYD3	copy number gain	Hepatocellular Carcinoma	Our results explained the role of the upregulated expression of BCAT1, PLOD3 and six other methyltransferase genes involved in carnitine biosynthesis and S-adenosylmethionine metabolism in the early and advanced HCC stages. By integrating our results with copy number variation analyses, we observed that GNPAT, PPOX and five of the methyltransferase genes (ASH1L, METTL13, SMYD2, TARBP1 and SMYD3), which are all located on chromosome 1q, had increased copy numbers in the cancer samples relative to the normal samples.									
24532422	IDH2	Mutation	Cholangiocarcinoma	CCA with Ov shows significantly higher incidence of the TP53 gene mutation, whereas CCA without Ov showed significantly more frequent mutations of the BAP1, IDH1 and IDH2 genes.									
24532263	IDH2	Mutation	Childhood Astrocytoma; Childhood Diffuse Astrocytoma	This study identified the expression of KIAA1549-BRAF fusion gene and BRAF V600E mutation, mutations at exon 4 of the IDH1 and IDH2 genes in samples of pilocytic astrocytomas (PA) and grade-II astrocytomas (A-II) pediatric patients. Additionally, we observed two mutations out of the usual hotspots at IDH1 and IDH2 genes.									
24511544	IDH2	Mutation	Glioblastoma	Recent whole-genome studies revealed novel GBM prognostic biomarkers such as mutations in metabolic enzyme IDH-isocitrate dehydrogenases (IDH1 and IDH2).									
24478380	IDH2	Mutation	Intrahepatic Cholangiocarcinoma	Mutations in the IDH1 and IDH2 (IDH1/2) genes occur in approximately 20% of intrahepatic cholangiocarcinoma and lead to accumulation of 2-hydroxyglutarate (2HG) in the tumor tissue.							2HG	positive regulation	Mutations in the IDH1 and IDH2 (IDH1/2) genes occur in approximately 20% of intrahepatic cholangiocarcinoma and lead to accumulation of 2-hydroxyglutarate (2HG) in the tumor tissue.
24460285	IDH2	Mutation	Grade II Glioma; WHO Grade III Glioma; Glioblastoma, IDH-Mutant	Recent genome wide sequencing has identified mutations in IDH1/IDH2 predominantly in grade II-III gliomas and secondary glioblastomas which are associated with favorable clinical outcome.									
24458248	IDH2	Mutation	Benign Chondrogenic Neoplasm; Chondrosarcoma	These early-stage mutations, found in both benign cartilaginous lesions and chondrosarcomas, include alterations affecting the IHH/PTHrP and IDH1/IDH2 pathways.									
24443894	IDH2	Mutation	Acute Myeloid Leukemia	IDH1 and IDH2 mutations confer an adverse effect in patients with acute myeloid leukemia lacking the NPM1 mutation. IDH2 mutations were found in 19 (8.2%, 17 R140 and two R172) patients. IDH1 and IDH2 mutations were mutually exclusive and were associated with normal karyotype AML, cytogenetic intermediate-risk group, and NPM1 mutations.				IDH1	Mutually exclusive mutation	IDH1 and IDH2 mutations were mutually exclusive and were associated with normal karyotype AML, cytogenetic intermediate-risk group, and NPM1 mutations.			
24440599	IDH2	Mutation	Acute Myeloid Leukemia	Mutations in the metabolic enzymes isocitrate dehydrogenase-1 (IDH1) and IDH2 that produce the oncometabolite D-2-hydroxyglutarate (2-HG) occur frequently in human acute myeloid leukemia (AML).				HoxA9;Meis1a; FLT3	collaboration	We found that IDH2(R140Q) can cooperate with overexpression of HoxA9 and Meis1a and with mutations in FMS-like tyrosine kinase 3 (FLT3) to drive acute leukemia invivo.			
24413737	IDH2	Mutation	Angioimmunoblastic T-Cell Lymphoma	Although frequent mutations in TET2, IDH2 and DNMT3A, which are common to various hematologic malignancies, have been identified in AITL, the molecular pathogenesis specific to this lymphoma subtype is unknown.									
24413734	IDH2	Mutation	Angioimmunoblastic T-Cell Lymphoma; Peripheral T Cell Lymphoma	These analyses identified highly recurrent epigenetic factor mutations in TET2, DNMT3A and IDH2 as well as a new highly prevalent RHOA mutation encoding a p.Gly17Val alteration present in 22 of 35 (67%) angioimmunoblastic T cell lymphoma (AITL) samples and in 8 of 44 (18%) PTCL, not otherwise specified (PTCL-NOS) samples.									
24403254	IDH2	Mutation	Osteosarcoma	This report is the first describing IDH2 mutations in osteosarcoma, which can be detected by MsMab-1 mAb.									
24344754	IDH2	Mutation	Maffucci Syndrome	We analyzed the IDH1 and IDH2 mutations of enchondroma, hemangioma and anaplastic astrocytoma tissues and the same somatic mosaic mutation in IDH2 gene was identified in all these tissues.									
24319229	IDH2	Mutation	Myeloproliferative Neoplasm	Recently, mutations in several epigenetic modifiers have been described in patients with MPNs, including mutations in ASXL1, DNMT3A, EZH2, IDH1, IDH2, and TET2.									
24309525	IDH2	Mutation	Acute Myeloid Leukemia	Specific combinations of mutations, including FLT3 and IDH1/IDH2/TET2, frequently co-occur in acute myeloid leukemia (AML) and are associated with poor prognosis.				FLT3	Co-existing mutation	Specific combinations of mutations, including FLT3 and IDH1/IDH2/TET2, frequently co-occur in acute myeloid leukemia (AML) and are associated with poor prognosis.			
24295421	IDH2	Mutation	Glioma; Acute Myeloid Leukemia	Somatic mutations in genes encoding IDH1 and IDH2 were first identified in glioma and subsequently in acute myeloid leukemia and other solid tumors.									
24272205	IDH2	Mutation	Early Gastric Cancer	CDKN2A, IDH2, MET, and RET mutations were observed only in EGC.									
24185513	IDH2	Mutation	Cholangiocarcinoma	Comparisons between intrahepatic O. viverrini-related and non-O. viverrini-related CCAs demonstrated statistically significant differences in mutation patterns: BAP1, IDH1 and IDH2 were more frequently mutated in non-O. viverrini CCAs, whereas TP53 mutations showed the reciprocal pattern.									
24185509	IDH2	Mutation	Cholangiocarcinoma	We also identified frequent mutations at previously reported hotspots in the IDH1 and IDH2 genes encoding metabolic enzymes in intrahepatic cholangiocarcinomas.									
24184969	IDH2	Mutation	Oligodendroglial Tumor	This locus is specifically associated with IDH1-mutated and IDH2-mutated tumors and oligodendroglial tumors, albeit the specific mechanism of tumor development is not understood.									
24164308	IDH2	Underexpression	Vulvar Lichen Sclerosus	By contrast, IDH2 levels were significantly reduced in baseline VLS compared with controls and UVA1-treated VLS.									
24149775	IDH2	Mutation	Anaplastic Brain Stem Glioma	A total of 108 and 3 patients harbored IDH1 and IDH2 gene mutation, respectively.									
24138945	IDH2	Mutation	Acute Myeloid Leukemia	There was no significant difference in age, blood parameters, FAB/WHO subtypes, karyotype risks and nine gene mutations (FLT3-ITD, NPM1, C-KIT, IDH1/IDH2, DNMT3A, C/EBPA and N/K-RAS) between patients with and without let-7a-3 overexpression (P>0.05).									
24083241	IDH2	Mutation	Oligodendroglial Tumor	In oligodendroglial tumors, it was strongly associated with both IDH1/IDH2 mutations and total 1p/19q codeletion and inversely with EGFR gene amplification.									
24082129	IDH2	Mutation	Acute Myeloid Leukemia	The 2-hydroxyglutarate (2-HG) has been reported to result from mutations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes and to function as an oncometabolite. 							2HG	Mutation-induced positive regulation	The 2-hydroxyglutarate (2-HG) has been reported to result from mutations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes and to function as an oncometabolite. 
24077826	IDH2	Mutation	Glioma	Mutation in the IDH1 or IDH2 genes occurs frequently in gliomas and other human malignancies.									
24065766	IDH2	Mutation (gain of function)	Chondrosarcoma	More than 50% of patients with chondrosarcomas exhibit gain-of-function mutations in either isocitrate dehydrogenase 1 (IDH1) or IDH2.									
24065765	IDH2	Mutation	Acute Myeloid Leukemia	Somatic mutations in the isocitrate dehydrogenase (IDH) genes IDH1 and IDH2 occur frequently in acute myeloid leukemia (AML) and other cancers.									
24045501	IDH2	Mutation	Myelodysplastic Syndrome	TET2, DNMT3A, IDH1/IDH2, ASXL1, CBL, RAS and SF3B1 mutations were found in 18, 9, 8, 26, 3, 2 and 13% of patients, respectively.									
23996483	IDH2	Mutation	Myelodysplastic Syndrome	Somatic mutations of TET2, IDH1, and IDH2 have been described in myelodysplastic syndrome. Among the 168 de novo myelodysplastic syndrome patients, the frequency of TET2, IDH1, and IDH2 mutations was 18.5%, 4.2% and 6.0%, respectively.									
23958880	IDH2	Mutation	Chondrosarcoma	Their genetic characterization revealed triploid karyotypes, mutations in IDH1, IDH2, and TP53, deletion in CDKN2A and/or MDM2 amplification.									
23955456	IDH2	Mutation	Acute Myeloid Leukemia	In 21 strongly CD105+ AML cases tested for the IDH2 mutation, 9 (42%) were mutated (P = .004).									
23949914	IDH2	Mutation	Acute Myeloid Leukemia	Recent advances in sequencing technologies have led to the identification of recurrent mutations in genes that regulate DNA methylation including DNA methyltransferase 3A (DNMT3A), ten-eleven translocation 2 (TET2), and isocitrate dehydrogenase 1 (IDH1) and IDH2.									
23949315	IDH2	Mutation	Acute Myeloid Leukemia	NADP-dependent enzyme isocitrate dehydrogenase (IDH) mutations, IDH1 and IDH2, have been described in acute myeloid leukemia (AML) using next generation sequencing approaches. IDH2 mutations are heterozygous; they alter a single arginine residue at position 140 or 172 and have distinct prognostic significance.									
23929217	IDH2	Mutation	Acute Myeloid Leukemia	According to the mutation status of eight genes, including NPM1, CEBPA, IDH2, RUNX1, WT1, ASXL1, DNMT3A and FLT3, that had prognostic significance, 229 patients with intermediate-risk cytogenetics could be refinedly stratified into three groups with distinct prognosis (P<0.001); patients with good-risk genotypes had a favorable outcome (overall survival, OS, not reached) similar to those with good-risk cytogenetics, whereas those with poor-risk genotypes had an unfavorable prognosis (OS, 10 months) similar to those with poor-risk cytogenetics (OS, 13.5 months), and the remaining patients with other genotypes had an intermediate outcome (OS, 25 months).									
23896276	IDH2	Mutation	Glioma	Moreover, large-scale molecular profiling approaches have identified new mutations in gliomas, affecting IDH1, IDH2, H3F3, ATRX, and CIC, which has allowed subclassification of gliomas into distinct molecular subgroups with characteristic features of age, localisation, and outcome.									
23894344	IDH2	Mutation	Glioma	Isocitrate dehydrogenase isoforms 1 and 2 (IDH1 and IDH2) mutations have received considerable attention since the discovery of their relation with human gliomas.									
23877318	IDH2	Mutation	Astrocytoma; Oligodendroglioma; Oligoastrocytoma; Glioblastoma, IDH-Mutant	IDH1 and IDH2 are mutated in 50%-80% of astrocytomas, oligodendrogliomas, oligoastrocytomas, and secondary glioblastomas but are seldom mutated in primary glioblastomas.									
23840696	IDH2	Mutation	Low Grade Glioma	IDH1/IDH2 mutation was detected in 32 primary tumors, with 25 low-grade gliomas and 6 anaplastic gliomas harboring IDH1 mutation and 1 low-grade glioma harboring IDH2 mutation.									
23815907	IDH2	Mutation	Acute Myeloid Leukemia	The results showed that IDH2 mutation was found in 14 (7.29%) of 192 patients. IDH2 mutation was detected in 5 (8.47%) of 59 CN-AML.				FLT3/ITD; Dnmt3a	Co-existing mutation	IDH2 mutation combined with FLT3/ITD mutation was found in 7 cases, with CEBPA mutation in 4 cases, with NPM1 mutation in 4 cases, with Dnmt3a mutation in 5 cases, neither with c-kit, IDH1 or WT1 mutation for no one, which revealed a significant interaction between IDH2 mutation and the FLT3/ITD positive genotype, Dnmt3a mutated, and IDH1 wild-type. IDH2 mutation is significantly associated with AML-M5, FLT3/ITD, Dnmt3a, IDH1 wild-type and fusion gene wild-type, but not with age, leucocyte and platelet counts in peripheral blood, karyotype, NPM1, CEBPA, c-kit or WT1 mutation.			
23801749	IDH2	Mutation	Maffucci Syndrome	Interestingly, somatic IDH1 and IDH2 mutations, and loss-of-function mutations in ten-eleven translocation (TET) methylcytosine dioxygenase-2 (TET2) associated with a hypermethylation phenotype, are also found in multiple enchondromas of patients with Ollier disease and Mafucci syndrome, and leukemia, respectively.									
23796461	IDH2	Mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma; Cholangiocarcinoma; Angioimmunoblastic T-Cell Lymphoma	Heterozygous mutations in catalytic arginine residues of isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) are common in glioma, acute myeloid leukemia, chondrosarcoma, cholangiocarcinoma, and angioimmunoblastic T-cell lymphoma.									
23782684	IDH2	Mutation	Glioma; Chondrogenic Neoplasm; Acute Myeloid Leukemia	Mutations of isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) have been reported in gliomas, cartilaginous tumors, and acute myeloid leukemias.									
23770606	IDH2	Mutation	Chondrosarcoma	Recent work has identified frequent, recurrent mutations in IDH1 or IDH2 in nearly half of central chondrosarcomas. In addition, we identified mutations in IDH1 or IDH2 (59%), TP53 (20%), the RB1 pathway (33%) and Hedgehog signaling (18%).									
23755812	IDH2	Mutation	Acute Myeloid Leukemia	IDH1 and IDH2 mutations were detected in 27 (4.74%) patients and 63 (11.05%) patients respectively.				IDH1	Mutually exclusive mutation	None of them had the combined mutations of IDH1 and IDH2.			
23690417	IDH2	Mutation	Chronic Myelomonocytic Leukemia	ASXL1 mutations (P < .0001) and, to a lesser extent, SRSF2 (P = .03), CBL (P = .003), and IDH2 (P = .03) mutations predicted inferior OS in univariable analysis.									
23687089	IDH2	Mutation	T Acute Lymphoblastic Leukemia	An early immature gene expression signature, the absence of bi-allelic TCRG deletion, CD13 surface expression, heterozygous deletions of the short arm of chromosome 17, and mutations in IDH1/IDH2 and DNMT3A genes are associated with poor prognosis in this series. Conversely, mutations in IDH1/IDH2 and DNMT3A were specifically associated with poor outcome in early immature adult T-ALLs.									
23685147	IDH2	altered expression	Nasopharyngeal Carcinoma	Gene expression profiling analysis unexpectedly showed a significant number of up- and down-modulated metabolism-associated genes, such as G6PD, SAT1, ASS1, PAST1, FUT1, SGPL1, DHRS3, B4GALT1, PHGDH, IDH2, PISD, UGT8, LDHB and GALNT1, in EBV-miR-BART1-expressing NPC cells, which were next confirmed by RT-qPCR.									
23681562	IDH2	Mutation	Anaplastic Oligodendroglioma	IDH1/IDH2 mutations occurred in 23/43 (54 %) patients: 20/43 IDH1-R132H mutation in IHC, 2/43 IDH1-R132G mutation and 1/43 IDH2-R172K mutation identified by DNA sequencing.									
23640996	IDH2	Mutation (gain of function)	Acute Myeloid Leukemia	In particular, we focus on the role of loss-of-function mutations in TET2, gain-of-function mutations in IDH1 and IDH2, and loss-of-function mutations in ASXL1 and mutations of unclear impact in DNMT3A in AML pathogenesis and therapy.									
23613835	IDH2	Mutation	Acute Myeloid Leukemia	There were no differences in the incidence of mutation in 13 genes, ASXL1, CBL, c-KIT, DNMT3A, FLT3, IDH1, IDH2, MLL, NPM1, NRAS, RUNX1, TET2, and WT1, between patients with and without EZH2 mutations.									
23613680	IDH2	Mutation	Acute Myeloid Leukemia	A somatic mutation in IDH2 was detected in these 2 patients.									
23598960	IDH2	Mutation	Chondrogenic Neoplasm	Cartilaginous neoplasms have recently been shown to frequently (56%) harbor gene mutations in the metabolic enzymes isocitrate dehydrogenase 1 (IDH1) and IDH2 (IDH1>IDH2), whereas other mesenchymal tumors lack these genetic aberrations.									
23532369	IDH2	Mutation	Glioma	IDH1 and IDH2 mutations in gliomas. Gliomas with mutated IDH1 and IDH2 have improved prognosis compared with gliomas with wild-type IDH.									
23524262	IDH2	Mutation	Glioma; Chondrogenic Neoplasm; Acute Myeloid Leukemia	Isocitrate dehydrogenase 2 (IDH2) mutations have been detected in gliomas, cartilaginous tumors, and acute myeloid leukemias. IDH2 mutations are specific to a single codon in the conserved and functionally important Arginine 172 (R172) or Arginine 140 (R140).									
23485734	IDH2	Mutation	Spindle Cell Hemangioma	The R132C IDH1 mutation was identified by hydrolysis probes assay and confirmed by Sanger sequencing in 18 of 28 (64%) SCHs; of the 10 negative cases, 2 harbored a mutation in IDH2 (R172T and R172M) by Sanger sequencing. In conclusion, 20 of 28 (71%) SCHs harbored mutations in exon 4 of IDH1 or IDH2.									
23393090	IDH2	Mutation	Leukemia	Mutations in IDH1 and IDH2, the genes coding for isocitrate dehydrogenases 1 and 2, are common in several human cancers, including leukemias, and result in overproduction of the (R)-enantiomer of 2-hydroxyglutarate [(R)-2HG].							R2HG	positive regulation	Mutations in IDH1 and IDH2, the genes coding for isocitrate dehydrogenases 1 and 2, are common in several human cancers, including leukemias, and result in overproduction of the (R)-enantiomer of 2-hydroxyglutarate [(R)-2HG].
23365461	IDH2	Mutation	Childhood Acute Myeloid Leukemia	Two patients carried ASXL1 mutations, both with t(8;21), 2 had DNMT3A mutations, 2 had IDH1 mutations, 1 had IDH2 mutation, and 3 had TET2 mutations.									
23330999	IDH2	Mutation	Grade II Glioma	Conversely, IDH1/IDH2 mutations were found in all 11 (100%) of the insular Grade II gliomas but only 20 (55%) of 36 paralimbic Grade II gliomas (p = 0.008).									
23318457	IDH2	Mutation	Intrahepatic Cholangiocarcinoma	Recent data have revealed specific genetic mutations (for example, KRAS, IDH1 and IDH2), epigenetic silencing, aberrant signaling pathway activation (for example, interleukin (IL)-6/signal transducer and activator of transcription 3 (STAT3), tyrosine kinase receptor-related pathways) and molecular subclasses with unique alterations (for example, proliferation and inflammation subclasses).									
23307057	IDH2	Mutation	Grade II Glioma; WHO Grade III Glioma; Glioblastoma, IDH-Mutant	Mutations in isocitrate dehydrogenase -1 or -2 (IDH1 or IDH2) are found in the majority of WHO grade II and III diffuse gliomas and secondary glioblastomas.									
23298878	IDH2	Mutation	Polycythemia Vera; Essential Thrombocythemia	Mutations associated with disease progression such as isocitrate dehydrogenase (IDH) 1, IDH2, EZH2, serine/arginine-rich splicing factor 2 (SRSF2), p53, casitas B-lineage lymphoma (c-CBL), ikaros zinc fingers (IKZF), neurofibromin 1 (NF1) and runt-related transcription factor 1 (RUNX1) are described.									
23263745	IDH2	Underexpression	Malignant Glioma	In malignant glioma specimens, the expression levels of IDH2 were lower in tumors than in the peripheral, non-tumorous brain tissues.									
23232569	IDH2	Mutation	Glioma; Leukemia	Heterozygous hotspot mutations in isocitrate dehydrogenases (IDH) IDH1 or IDH2 are frequently observed in specific types of cartilaginous tumors, gliomas, and leukemias.									
27144525	CREBBP	Mutation	Collecting Duct Carcinoma	We identified somatic SNVs in 14 other cancer census genes including: ATM, CREBBP, PRDM1, CBFB, FBXW7, IKZF1, KDR, KRAS, NACA, NF2, NUP98, SS18, TP53, and ZNF521.									
27144525	IKZF1	Mutation	Carcinoma of the Collecting Ducts of Bellini	We identified somatic SNVs in 14 other cancer census genes including: ATM, CREBBP, PRDM1, CBFB, FBXW7, IKZF1, KDR, KRAS, NACA, NF2, NUP98, SS18, TP53, and ZNF521.									
23109653	IDH2	Mutation	Glioma	The recent discovery of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) mutations in glioma has provided reproducible prognostic biomarkers and novel therapeutic targets.									
23074281	IDH2	Mutation	Acute Myeloid Leukemia	Mutations of genes encoding isocitrate dehydrogenase (IDH1 and IDH2) have been recently described in acute myeloid leukemia (AML).									
23071531	IDH2	Mutation	Anaplastic Oligodendroglioma	Studies have identified several molecular abnormalities with clinical or biological relevance to AOD (e.g. t(1;19)(q10;p10), IDH1, IDH2, CIC and FUBP1 mutations).To better characterize the clinical and biological behavior of this tumor type, the creation of a national multicentric network, named Prise en charge des OLigodendrogliomes Anaplasiques (POLA), has been supported by the Institut National du Cancer (InCA).									
23039322	IDH2	Mutation	Acute Myeloid Leukemia	IDH1(mut) and IDH2(mut) were mutually exclusive, detected in 8.5% and 7.5% of cases, respectively. 				NPM1	Co-existing mutation	IDH1(mut) and IDH2(mut) were associated differently with NPM1(mut); co-occurrence was observed in 14.3% of IDH1 R132C vs. 70% of R132H carriers (p = 0.02) and in 47.4% of IDH2 R140Q vs. 0% of R172K carriers (p = 0.02).			
22980977	IDH2	Underexpression	Melanoma	We show that downregulation of isocitrate dehydrogenase 2 (IDH2) and TET family enzymes is likely one of the mechanisms underlying 5-hmC loss in melanoma.							5hmc	Positive regulation	We show that downregulation of isocitrate dehydrogenase 2 (IDH2) and TET family enzymes is likely one of the mechanisms underlying 5-hmC loss in melanoma.
22929312	IDH2	Mutation	Acute Myeloid Leukemia	We developed a new combination of high-resolution melting assays on a LightCycler 480 and direct sequencing to detect somatic mutations of ASXL1 (exon 12), IDH1 (exon 4), IDH2 (exon 4), and c-CBL (exons 8 and 9) genes to know their incidence and prognostic effect in a cohort of 175 patients with de novo AML: 16 patients (9%) carried ASXL1 mutations, 16 patients had IDH variations (3% with IDH1(R132) and 6% with IDH2(R140)), and none had c-CBL mutations.				IDH1	Mutually exclusive mutation	IDH1 and IDH2 mutations were mutually exclusive.			
22922872	IDH2	Mutation	Glioma; Oligodendroglial Tumor; Astrocytoma	After stratifying by histological and tumor genetic subtype, the most significant associations of rs55705857 were with oligodendroglial tumors and gliomas with mutant IDH1 or IDH2 (odds ratio (OR)=5.1, P=1.1×10(-31) and OR=4.8, P=6.6×10(-22), respectively). Strong associations were observed for astrocytomas with mutated IDH1 or IDH2 (grades 2-4) (OR=5.16-6.66, P=4.7×10(-12) to 2.2×10(-8)) but not for astrocytomas with wild-type IDH1 and IDH2 (smallest P=0.26).									
22917530	IDH2	Mutation	Acute Myeloid Leukemia	IDH1/IDH2 mutations are heterozygous, and their combined frequency is approximately 17% in unselected acute myeloid leukemia cases, 27% in cytogenetically normal acute myeloid leukemia cases, and up to 67% in acute myeloid leukemia cases with cuplike nuclei. All known mutations involve arginine (R), in codon 132 of IDH1 or codon 140 or 172 of IDH2. IDH1(R132) and IDH2(R140) mutations are frequently accompanied by normal cytogenetics and NPM1 mutation, whereas IDH2(R172) is frequently the only mutation detected in acute myeloid leukemia.									
22899282	IDH2	Mutation	Glioma; Acute Myeloid Leukemia; Chondroma	Monoallelic point mutations of the NADP(+)-dependent isocitrate dehydrogenases IDH1 and IDH2 occur frequently in gliomas, acute myeloid leukemias, and chondromas, and display robust association with specific DNA hypermethylation signatures.									
22890969	IDH2	Mutation	Low Grade Glioma	Although IDH mutations (IDH1 or IDH2) are recorded in up to 85 % of low-grade gliomas, IDH negative gliomas do occur.									
22886134	IDH2	Mutation	Grade II Glioma; WHO Grade III Glioma; Glioblastoma; Childhood Astrocytoma; Childhood Anaplastic Astrocytoma; Childhood Pilocytic Astrocytoma	Using sequencing and/or immunohistochemical analyses, we investigated ATRX alterations (mutation/loss of expression) and their association with TP53 and IDH1 or IDH2 mutations in 140 adult WHO grade II, III and IV gliomas, 17 pediatric WHO grade II and III astrocytomas and 34 pilocytic astrocytomas.									
27158780	CREBBP	Mutation	Lung Adenocarcinoma; Squamous Cell Lung Carcinoma	New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types.									
27212032	HDAC5	Overexpression	Breast Carcinoma	Here, we report that expression of HDAC5 and LSD1 proteins were positively correlated in human breast cancer cell lines and tissue specimens of primary breast tumors. Protein expression of HDAC5 and LSD1 was significantly increased in primary breast cancer specimens in comparison with matched-normal adjacent tissues.				LSD1	Binding	Using HDAC5 deletion mutants and co-immunoprecipitation studies, we showed that HDAC5 physically interacted with the LSD1 complex through its domain containing nuclear localization sequence and phosphorylation sites.	LSD1; USP28	Positive regulation	Here, we report that expression of HDAC5 and LSD1 proteins were positively correlated in human breast cancer cell lines and tissue specimens of primary breast tumors. Overexpression of USP28 largely reversed HDAC5-KD-induced LSD1 protein degradation, suggesting a role of HDAC5 as a positive regulator of LSD1 through upregulation of USP28 protein.
22823977	IDH2	Mutation	Myelodysplastic Syndrome; Myeloproliferative Neoplasm; Chronic Myelomonocytic Leukemia; Acute Myeloid Leukemia	Mutations responsible for these diseases occur in several genes whose encoded proteins belong principally to five classes: signaling pathways proteins (e.g. CBL, FLT3, JAK2, RAS), transcription factors (e.g. CEBPA, ETV6, RUNX1), epigenetic regulators (e.g. ASXL1, DNMT3A, EZH2, IDH1, IDH2, SUZ12, TET2, UTX), tumor suppressors (e.g. TP53), and components of the spliceosome (e.g. SF3B1, SRSF2).									
22807371	IDH2	Overexpression	Ovarian Carcinoma	Furthermore, up-regulation of KRT8, PPA1, IDH2, and S100A11 were validated in ovarian tissue microarrays by immunohistochemistry.									
22789312	IDH2	Mutation	Grade II Glioma; WHO Grade III Glioma; Glioblastoma, IDH-Mutant	IDH1 and IDH2 mutations are frequent in diffuse grade II and grade III gliomas and in secondary glioblastomas.									
22781800	IDH2	Mutation	Acute Myeloid Leukemia	The mutations of IDH1 and IDH2 gene at exon 4, NPM1 gene at exon 12 and FLT3-ITD at exon 14 and 15 in 163 newly diagnosed AML patients were detected by PCR amplification followed by direct sequencing of genomic DNA. IDH mutations were found in 25 patients (25/163), and all were heterozygous, of which IDH1 in 7 patients (4.29%) and IDH2 in 18 (11.04%). Both IDH1 and IDH2 mutation were detected in one patient, while IDH1 was synonymous substitution (c.315C→T). The incidence of IDH mutation is higher in patients with de novo AMLs, of which IDH2 mutation more frequently, and the patients associated with older age, normal karyotype at diagnosis.									
22763442	IDH2	Mutation	Glioblastoma; Acute Myeloid Leukemia	Mutations in the IDH1 and IDH2 genes encoding isocitrate dehydrogenases are frequently found in human glioblastomas and cytogenetically normal acute myeloid leukaemias (AML).									
22712628	IDH2	Mutation	Myelodysplastic Syndrome; Acute Myeloid Leukemia	Recent findings of mutated IDH1, IDH2, DNMT3A or TET2 in myelodysplastic syndrome/acute myeloid leukaemia patients underscore this notion, and point to the importance of epigenetic changes for developing tumour cells.									
22672632	IDH2	Mutation	Extraventricular Neurocytoma	From our study, we concluded that EVNs were characterized by the absence of p53 overexpression, α-internexin positivity, MGMT promotor methylation and IDH1/IDH2 mutation.									
22617234	IDH2	Mutation	Diffuse Glioma	Different molecular biomarkers were identified by genetic studies and some of these are used in neuro-oncology for the evaluation of glioma patients, in particular combined deletions of the chromosome arms 1p and 19q in oligodendroglial tumors, methylation status of the O-6 methylguanine- DNA methyltransferase gene promoter and alterations in the epidermal growth factor receptor pathway in adult malignant gliomas, isocitrate dehydrogenase 1 (IDH1) and IDH2 gene mutations in diffuse gliomas, as well as BRAF status in pilocytic astrocytomas.									
22616558	IDH2	Mutation	Acute Myeloid Leukemia	Recurrent mutations of isocitrate dehydrogenase isoforms 1 and 2 (IDH1 and IDH2) have recently been studied in adult patients with acute myeloid leukemia (AML).									
22535206	IDH2	Overexpression	Breast Carcinoma	Cancer cells, as opposed to near-normal MCF-10A cells, exhibited significantly increased expression of key energy metabolic pathway enzymes (FBP1, IDH2, and G6PD) that are known to redirect cellular metabolism and increase carbon flux through the pentose phosphate pathway.									
22507776	IDH2	Mutation	Acute Myeloid Leukemia	Nonetheless, mutations in DNMT3A, TET2, and ASXL1 are emerging as important adverse prognosticators in subsets of patients with AML independent of FLT3 mutations whereas mutations in IDH2 at residue 140 are potential predictors of improved outcome in AML.									
22520341	IDH2	Mutation	Acute Myeloid Leukemia	IDH1 and IDH2 mutations are common genetic alterations in normal karyotype AML.									
22494415	IDH2	Mutation	Acute Myeloid Leukemia	IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia and associated with NPM1 mutations and FAB-M2 subtype. There was a strong association of IDH2 mutation with NPM1 mutations and a trend with FLT3-internal-tandem duplication.				NPM1	Co-existing mutation	There was a strong association of IDH2 mutation with NPM1 mutations and a trend with FLT3-internal-tandem duplication.			
22489043	IDH2	Mutation	Myeloproliferative Neoplasm	Mutations in the other genes were rare (CBL, DNMT3A, IDH2, MPL, SF3B1, SUZ12, NF1) or absent (IDH1).									
22417203	IDH2	Mutation	Acute Myeloid Leukemia	We found that internal tandem duplication in FLT3 (FLT3-ITD), partial tandem duplication in MLL (MLL-PTD), and mutations in ASXL1 and PHF6 were associated with reduced overall survival (P=0.001 for FLT3-ITD, P=0.009 for MLL-PTD, P=0.05 for ASXL1, and P=0.006 for PHF6); CEBPA and IDH2 mutations were associated with improved overall survival (P=0.05 for CEBPA and P=0.01 for IDH2).									
22414580	IDH2	Overexpression	Breast Carcinoma	Proteomic analysis also identified high levels of IDH2 and CRABP2 and low levels of SEC14L2 to be prognostic markers for overall breast cancer survival.									
22397365	IDH2	Mutation	Acute Myeloid Leukemia	Acquired somatic mutations of IDH1 and IDH2 have recently been reported in some types of brain tumors and a small proportion of acute myeloid leukemia (AML) cases. The prevalence of IDH1 and IDH2 mutations was 8.7% (20/230) and 10.4% (24/230), respectively. Two missense mutations were found in IDH2-mutated cases; p.R140Q (n = 20) and p.R172K (n = 4).									
22395470	IDH2	Mutation	Leukemia	In contrast, only 1/30 patient had a mutation in IDH1 or IDH2, and none of them had a mutation in DNMT3A in the sites most frequently mutated in leukemia.									
22385606	IDH2	Mutation	Glioma; Leukemia; Acute Lymphoblastic Leukemia; Childhood Acute Lymphoblastic Leukemia; Oral Cavity Squamous Cell Carcinoma	Mutations of IDH1 and IDH2 have been identified in patients with glioma, leukemia, and other cancers. In ALL, the allele frequency was 3.23% in both IDH1 and IDH2. In OSCC, the allele frequency was 2.22% in IDH2. A synonymous mutation over pG313 (c.939A>G) of IDH2 was found in both pediatric ALL and adult OSCC.									
22343901	IDH2	Mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma	Recurrent mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 have been identified in gliomas, acute myeloid leukaemias (AML) and chondrosarcomas, and share a novel enzymatic property of producing 2-hydroxyglutarate (2HG) from α-ketoglutarate.									
22343896	IDH2	Mutation	Brain Neoplasm; Leukemia	IDH1 and IDH2, which catalyse the interconversion of isocitrate and 2-OG, are frequently mutated in human brain tumours and leukaemias.									
22338155	IDH2	Mutation	Acute Myeloid Leukemia	Two patients with IDH2 mutation were also with normal karyotype. IDH2 mutations were in older patients at diagnosis.									
22323113	IDH2	Mutation	Central Chondrosarcoma; Periosteal Chondrosarcoma	Recently, in an examination of various types of mesenchymal tumor, IDH1/2 mutations were only found in cartilaginous tumors including central conventional and periosteal enchondromas/chondrosarcomas. Also, an IDH2 mutation (R172S) was observed in one case.									
22309944	IDH2	Mutation	Low Grade Glioma	The identification of heterozygous mutations (with an incidence up to 85%) in either the R132 residue of isocitrate dehydrogenase-1 (IDH1) or the R172 residue of IDH2 in human low-grade diffuse gliomas was remarkable because no oncogenic pathway had been previously documented correlated with these enzymes.									
22289497	IDH2	Mutation	Myelodysplastic Syndrome; Acute Myeloid Leukemia	Identification of recurrent mutations in potential epigenetic regulators, including TET2, IDH1, IDH2, DNMT3A, UTX, and ASXL1, were recently described.									
22287028	IDH2	Mutation	Grade II Glioma; WHO Grade III Glioma	MGMT promoter hypermethylation was significantly associated with IDH1/IDH2 mutations (P = 0.0207) in grade II–III tumors, whereas it had a borderline association with 1p deletion (P = 0.0538) in oligodendrogliomas.				MGMT promoter hypermethylation	association	MGMT promoter hypermethylation was significantly associated with IDH1/IDH2 mutations (P = 0.0207) in grade II–III tumors, whereas it had a borderline association with 1p deletion (P = 0.0538) in oligodendrogliomas.			
22281806	IDH2	Mutation	Grade II Glioma; WHO Grade III Glioma	Mutations in isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) have been shown to be present in most World Health Organization grade 2 and grade 3 gliomas in adults.				2HG; D2HG	Mutation-induced positive correlation	Detection of 2HG correlated with mutations in IDH1 or IDH2 and with increased levels of D-2HG by mass spectrometry of the resected tumors.			
22217666	IDH2	Mutation	Diffuse Astrocytoma	IDH1 or IDH2 mutation was present in 63 (80%) patients who on average were younger than patients without IDH1/2 mutation (40 vs. 47 years, p=0.0331, t-test).									
22215888	IDH2	Mutation	Angioimmunoblastic T-Cell Lymphoma; Grade II Glioma; WHO Grade III Glioma; Glioblastoma, IDH-Mutant; Acute Myeloid Leukemia	IDH2 mutations are frequent in angioimmunoblastic T-cell lymphoma. Mutations in isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) occur in most grade 2 and 3 gliomas, secondary glioblastomas, and a subset of acute myelogenous leukemias but have not been detected in other tumor types. IDH2 mutations were identified in approximately 20% of angioimmunoblastic T-cell lymphomas (AITLs), but not in other peripheral T-cell lymphoma entities.									
22180306	IDH2	Mutation	Intrahepatic Cholangiocarcinoma	Combining these cohorts of biliary cancers, mutations in IDH1 and IDH2 were found only in cholangiocarcinomas of intrahepatic origin (nine of 40, 23%) and in none of the 22 extrahepatic cholangiocarcinomas and none of the 25 gallbladder carcinomas.									
22170482	IDH2	Mutation	Myeloproliferative Neoplasm	Recent advances in genomic technologies have led to the discovery of mutations in a number of epigenetic modifiers in patients with MPNs, including mutations in TET2, ASXL1, IDH1, IDH2, and EZH2.									
22162831	IDH2	Mutation	T Acute Lymphoblastic Leukemia	Many adult immature T-ALLs harbored mutations in myeloid-specific oncogenes and tumor suppressors including IDH1, IDH2, DNMT3A, FLT3, and NRAS.									
22147457	IDH2	Mutation	Grade II Glioma; Anaplastic Oligoastrocytoma; Glioblastoma, IDH-Mutant	IDH1 and IDH2 mutations have been frequently found in some types of gliomas (low-grade diffuse gliomas WHO grade II, anaplastic gliomas WHO grade III, and secondary glioblastomas WHO grade IV), and have received significant attention because of their specificity to single codons.									
22136423	IDH2	Mutation	Malignant Glioma	Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found frequently in malignant gliomas and are likely involved in early gliomagenesis. Mutations of IDH1 and IDH2 were found in 73 (29%) and 2 (1%) cases, respectively.									
27305909	ING2	Underexpression	Prostate Carcinoma	Inhibitor of growth 1 (ING1) and ING2 are tumor suppressors with reduced expression in many cancer types.				ING1	Compensation	ING2 levels are increased upon downregulation of ING1 expression indicating a compensatory mechanism and suggests a novel crosstalk between ING1 and ING2 tumor suppressors to inhibit AR signaling and induce cellular senescence in PCa cells.	AR; p16 (INK4a)	Negative regulation; Positive regulation	Accordingly, the data suggest that ING2 interacts with AR and hampers the AR transcriptional activation, causes growth arrest, and induces cellular senescence. The data further suggest that ING2 upregulates p16 (INK4a) , which is a novel target for ING2.
22080945	IDH2	Mutation	Glioma	Altered cancer cell metabolism in gliomas with mutant IDH1 or IDH2.									
22077061	IDH2	Mutation	Acute Myeloid Leukmemia	DNMT3A mutations were positively associated with older age, higher WBC and platelet counts, intermediate-risk and normal cytogenetics, FLT3 internal tandem duplication, and NPM1, PTPN11, and IDH2 mutations, but were negatively associated with CEBPA mutations.				DNMT3A	Co-existing mutation	DNMT3A mutations were positively associated with older age, higher WBC and platelet counts, intermediate-risk and normal cytogenetics, FLT3 internal tandem duplication, and NPM1, PTPN11, and IDH2 mutations, but were negatively associated with CEBPA mutations.			
22034964	IDH2	Mutation	Glioblastoma, IDH-Mutant	IDH (IDH1 or IDH2) mutations were found in 58/79 patients (73.4%).									
22020636	IDH2	Mutation	Acute Myeloid Leukemia	IDH1 and IDH2 gene mutations are novel, recurring molecular aberrations among patients with normal karyotype acute myeloid leukemia (AML). IDH1 and IDH2 mutations were present in 12 (7%) and 24 (14%) of patients, and IDH1 G105 SNP in 24 (14%).									
22015945	IDH2	Mutation	Primary Brain Neoplasm	Mutations of the isocitrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) are commonly found in primary brain cancers.									
22002076	IDH2	Mutation	Glioma	Point mutations of IDH1 and IDH2 have been discovered in gliomas.									
21997850	IDH2	Mutation	Acute Myeloid Leukemia; Myelodysplastic Syndrome	The somatic mutations of isocitrate dehydrogenase genes (IDH1 and IDH2) have been identified in a proportion of hematologic malignancies. IDH1 and IDH2 mutations were found in four (2.0%) and ten (5.0%) AML and in two (2.4%) and three (3.6%) MDS cases, but not in other patients.				IDH1	Mutually exclusive mutation	IDH1 and IDH2 mutations were heterozygous and mutually exclusive.			
21937695	IDH2	Mutation	Acute Myeloid Leukemia	High BRE expression was mutually exclusive with FLT3 ITD, CEBPA, IDH1, and IDH2 mutations, EVI1 overexpression, and favorable karyotypes.				BRE	Mutation-induced mutually exclusive	High BRE expression was mutually exclusive with FLT3 ITD, CEBPA, IDH1, and IDH2 mutations, EVI1 overexpression, and favorable karyotypes.			
21913188	IDH2	Mutation	Glioma	Mutated IDH1 or IDH2 protein leads to the generation of excessive amounts of the metabolite 2-hydroxyglutarate (2HG) in tumor cells.							2HG	positive regulation	Mutated IDH1 or IDH2 protein leads to the generation of excessive amounts of the metabolite 2-hydroxyglutarate (2HG) in tumor cells.
21889780	IDH2	Mutation	Glioma	Finally, OMICS have identified recurrent IDH1/IDH2 mutations with prognostic significance in glial tumors and five single nucleotide polymorphisms associated with susceptibility to gliomas (e.g. TERT, CCDC26, PHLDB1, RTEL1 and CDKN2A/CDKN2B).									
21889610	IDH2	Mutation	Acute Myeloid Leukemia	Isocitrate dehydrogenase 1 (IDH1) and IDH2 mutations and polymorphism are reported in 5% to 15% of acute myeloid leukemia (AML) cases, with G105 and R132 of IDH1 and R140 and R172 of IDH2 known to be clinically significant.									
21885076	IDH2	Mutation	Glioma	IDH1/IDH2 mutations are associated with genomic profile, being present in nearly all the 1p19q codeleted gliomas, and virtually absent in gliomas with EGFR amplification. IDH1/IDH2 mutation results in a new enzymatic activity transforming α-ketoglutarate into 2-hydroxyglutarate (2-HG).				1p19q codeletion	Mutation-induced positive correlation	IDH1/IDH2 mutations are associated with genomic profile, being present in nearly all the 1p19q codeleted gliomas, and virtually absent in gliomas with EGFR amplification.	2HG	positive regulation	IDH1/IDH2 mutation results in a new enzymatic activity transforming α-ketoglutarate into 2-hydroxyglutarate (2-HG).
21881046	IDH2	Mutation	Acute Myeloid Leukemia	To evaluate the prognostic value of genetic mutations for acute myeloid leukemia (AML) patients, we examined the gene status for both fusion products such as AML1 (CBFα)-ETO, CBFβ-MYH11, PML-RARα, and MLL rearrangement as a result of chromosomal translocations and mutations in genes including FLT3, C-KIT, N-RAS, NPM1, CEBPA, WT1, ASXL1, DNMT3A, MLL, IDH1, IDH2, and TET2 in 1185 AML patients. We revealed a correlation pattern among NPM1, DNMT3A, FLT3, IDH1, IDH2, CEBPA, and TET2 mutations.									
21874255	IDH2	Mutation	Glioma	Mutations in the isocitrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) appear to occur frequently and selectively in gliomas. In this study IDH1 and IDH2 mutations were detected in a series of 203 gliomas. IDH1 mutations were present in 75 of the 203 cases (36.9%) while IDH2 mutations in 5 of the 203 cases (2.5%).				IDH1	Mutually exclusive mutation	No tumor was mutated in both IDH1 and IDH2.			
21647154	IDH2	Mutation	Acute Myeloid Leukemia	Somatic IDH1/IDH2 mutations were rare in ALL (N=1), but were more common in AML, occurring in 3.5% (IDH1 N=3 and IDH2 N=5), with the frequency higher in AMLs with a normal karyotype (9.8%).				FLT3	Co-existing mutation (gain of function)	Interestingly, 3/5 AMLs with IDH2 mutations had FLT3-activating mutations, raising the possibility that these mutations cooperate in leukemogenesis.			
21647152	IDH2	Mutation	Acute Myeloid Leukemia	Mutations in the NADP(+)-dependent isocitrate dehydrogenase genes 1 and 2 (IDH1 and IDH2) have recently been found in adult acute myeloid leukemia (AML) patients with a prevalence rising up to 33%.									
21646683	IDH2	Mutation	Myeloproliferative Neoplasm	Other mutation events as MPL, TET2, LNK, EZH2 have been described in chronic phase, while NF1, IDH1, IDH2, ASX1, CBL and Ikaros in blast phase of MPN.									
21643842	IDH2	Mutation	Anaplastic Oligodendroglioma	A c.515G>T (p.R172M) mutation of the IDH2 gene was only identified in a grade II oligodendroglioma patient which was wild-type for IDH1.									
27340776	SFMBT2	Underexpression	Prostate Carcinoma	The expression level of SFMBT2 is high in poorly metastatic prostate cancer cells compared to highly metastatic prostate cancer cells.							N-CoR; KAI1	Negative regulation; Positive regulation	In addition, SFMBT2 knockdown decreased KAI1 gene expression through up-regulation of N-CoR gene expression.
27389057	CREBBP	Mutation	Follicular Lymphoma	The genes most frequently mutated in tFL included KMT2D (MLL2), CREBBP, EZH2, BCL2 and MEF2B.									
21598255	IDH2	Mutation	Central Chondrosarcoma; Enchondroma; Periosteal Chondroma	IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours. Somatic mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 occur in gliomas and acute myeloid leukaemia (AML). Heterozygous somatic IDH1/IDH2 mutations, which result in the production of a potential oncometabolite, 2-hydroxyglutarate, were only detected in central and periosteal cartilaginous tumours, and were found in at least 56% of these, 40% of which were represented by R132C.							2HG	positive regulation	Heterozygous somatic IDH1/IDH2 mutations, which result in the production of a potential oncometabolite, 2-hydroxyglutarate, were only detected in central and periosteal cartilaginous tumours, and were found in at least 56% of these, 40% of which were represented by R132C.
21596855	IDH2	Mutation	Acute Myeloid Leukemia	An IDH2 mutation was present in 148 cases (10%), 80% at R140 and 20% at R172.				NPM1	Co-existing mutation	IDH2(R140) significantly correlated with nucleophosmin mutations (NPM1(MUT)), whereas IDH2(R172) cases generally lacked other molecular mutations.			
21504050	IDH2	Mutation	Acute Myeloid Leukemia	Mutations in the DNMT3A, TET2, IDH1, and IDH2 genes carry prognostic significance and occur frequently in adult acute myeloid leukemia (AML).									
21481010	IDH2	Mutation	Diffused Glioma	Recently, mutations in IDH1 and IDH2 have been reported as an early and common genetic alteration in diffuse gliomas, being possibly followed by 1p/19q loss in oligodendrogliomas and TP53 mutations in astrocytomas.									
21343879	IDH2	Mutation	Glioma	IDH2 mutations are rare, but they also occur in gliomas.									
21343560	IDH2	Mutation	Acute Myeloid Leukemia	RUNX1 mutations were associated with MLL-partial tandem duplications (P = .0007) and IDH1/IDH2 mutations (P = .03), inversely correlated with NPM1 (P < .0001), and in trend with CEBPA (P = .10) mutations.				RUNX1	Co-existing mutation	RUNX1 mutations were associated with MLL-partial tandem duplications (P = .0007) and IDH1/IDH2 mutations (P = .03), inversely correlated with NPM1 (P < .0001), and in trend with CEBPA (P = .10) mutations.			
21340513	IDH2	Mutation	Myelodysplastic Syndrome	Newly elucidated molecular abnormalities in MDS include mutations in CBL, TET2, ASXL1, IDH1/IDH2, EZH2, DNMT3A, and UTX.									
21326614	IDH2	Mutation	Glioma	Gliomas frequently contain mutations in the cytoplasmic NADP(+)-dependent isocitrate dehydrogenase (IDH1) or the mitochondrial NADP(+)-dependent isocitrate dehydrogenase (IDH2).									
21314850	IDH2	Mutation	Ganglioglioma	Eight cases (8.2%) were positive for R132H IDH1 mutations; six had silent IDH2 mutations and two had nonsense IDH2 mutations.									
21294161	IDH2	Mutation	Glioma; Acute Myeloid Leukemia	Mutations in the genes encoding IDH1 and IDH2 were first reported in human gliomas in 2008 and later on also identified in a minority of patients with acute myeloid leukemia.									
21289278	IDH2	Mutation	Glioma	Point mutations of the NADP(+)-dependent isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) occur early in the pathogenesis of gliomas.							2HG	positive regulation	When mutated, IDH1 and IDH2 gain the ability to produce the metabolite (R)-2-hydroxyglutarate (2HG), but the downstream effects of mutant IDH1 and IDH2 proteins or of 2HG on cellular metabolism are unknown.
21284999	IDH2	Mutation	Low Grade Glioma	A recent cancer genome-sequencing project revealed that more than 70% of low-grade gliomas bear mutations in one of two NAD(+)-dependent isocitrate dehydrogenase enzymes, namely, IDH1 and IDH2.									
21246521	IDH2	Mutation	Anaplastic Oligodendroglioma	INA immunohistochemistry expression in tumors from 92 patients who were included in the EORTC 26951 trial was analyzed independently by 2 observers and was correlated with relevant clinical characteristics, including progression-free survival (PFS) and overall survival (OS), and with molecular features, including 1p/19q codeletion, isocitrate dehydrogenase 1 and 2 gene (IDH1/IDH2) mutation, and O-6 methylguanine-DNA methyltransferase (MGMT) promoter methylation status.									
21225914	IDH2	Mutation	Malignant Glioma; Myeloid Leukemia	Elevated levels of D-2-hydroxyglutarate have been demonstrated with malignant gliomas and myeloid leukemias associated with somatic mutations of the genes encoding NADP(+)-dependent isocitrate dehydrogenases (IDH1 and IDH2, respectively).							D2HG	positive regulation	Elevated levels of D-2-hydroxyglutarate have been demonstrated with malignant gliomas and myeloid leukemias associated with somatic mutations of the genes encoding NADP(+)-dependent isocitrate dehydrogenases (IDH1 and IDH2, respectively).
21173122	IDH2	Mutation	Acute Myeloid Leukemia	Mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes are reported in acute myeloid leukemia (AML). Point mutations in IDH1(R) were detected in 12 (6.0%) of 199 cases and in IDH2(R) in 4 (2.0%) of 196 cases.				IDH1(R)	Mutually exclusive mutation	IDH1(R) and IDH2(R) mutations were mutually exclusive.			
21080178	IDH2	Mutation	Grade II Glioma	A total of 38 IDH1 mutations at codon 132 and 2 IDH2 mutations at codon 172 were found, including 35 R132H (87.5%), 2 R132C (5.0%), 1 R132S (2.5%) and 2 R172 M (5%).									
21079611	IDH2	Mutation	Acute Myeloid Leukemia	Although the clinical features of the Isocitrate dehydrogenase 2 (IDH2) mutation in acute myeloid leukemia (AML) have been characterized, its prognostic significance remains controversial and its stability has not been investigated. In conclusion, IDH2 mutation is a stable marker during disease evolution and confers favorable prognosis.									
21069360	IDH2	Mutation	Oligodendroglioma	Three oligodendrogliomas with neurocytic differentiation had evidence of IDH1/IDH2 mutations either by H09 immunohistochemistry or direct sequencing.									
20975057	IDH2	Mutation	Low Grade Glioma	IDH (IDH1 or IDH2) mutations were found in 132/189 patients (70%).									
27527698	ASXL2	Mutation	Acute Myeloid Leukemia	Very recently, several studies have identified thatASXL1andASXL2mutations are enriched in a very specific subset of AML, AML with t(8;21), which represent 10% of all AML.				ASXL1; BAP1	Mutually exclusive mutation; form complexes	Interestingly,ASXL1andASXL2mutations are mutually exclusive in t(8;21) AML suggesting that the mutations may have convergent downstream and/or are synthetic lethal effects with one another. At least one report has suggested that ASXL1 and ASXL2 form mutually exclusive complexes with BAP1 in the PR-DUB.			
20962328	IDH2	Mutation	Malignant Glioma; Acute Myeloid Leukemia	Recurrent somatic mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes that result in the accumulation of D-2-hydroxyglutarate (D-2-HG) have been identified in malignant gliomas and in acute myeloid leukemia (AML).							D2HG	positive regulation	Recurrent somatic mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes that result in the accumulation of D-2-hydroxyglutarate (D-2-HG) have been identified in malignant gliomas and in acute myeloid leukemia (AML).
20946881	IDH2	Mutation	Acute Myeloid Leukemia; Glioma	IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders. Frequent mutations in the isocitrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) have been identified in gliomas and acute myeloid leukemia (AML). We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two missense mutations (p.R140Q and p.R172K; occurred in four AML patients) and one silent mutation (c.435G>A) in the IDH2 gene. The frequency of IDH1 and IDH2 missense mutations in Chinese AML patients reached 5.9% and 8.3%, respectively.									
20847279	IDH2	Mutation	Glioma	Mutations of both the IDH1 and IDH2 (isocitratedehydrogenase enzyme 1 and 2) genes have recently been described in cases of human glioma.									
20847235	IDH2	Mutation	Neoplastic Syndrome	Heterozygous somatic mutations in the genes encoding isocitrate dehydrogenase-1 and -2 (IDH1 and IDH2) were recently discovered in human neoplastic disorders. We have detected heterozygous germline mutations in IDH2 that alter enzyme residue Arg(140) in 15 unrelated patients with d-2-hydroxyglutaric aciduria (D-2-HGA), a rare neurometabolic disorder characterized by supraphysiological levels of D-2-HG.									
22966399	IDH2	Mutation	Glioma; Acute Myeloid Leukemia	Somatic mutations of isocitrate dehydrogenase (IDH)-1 and IDH2 proteins have been described in gliomas. The same mutations were observed in acute myeloid leukemias with normal karyotype, but a new mutation in IDH2 (R140Q substitution) was detected in malignant myeloid diseases and appears to be the most frequent IDH mutation in these pathologies.									
20678218	IDH2	Mutation	Acute Myeloid Leukemia	Mutations in FLT3 (mutation and internal tandem duplication), IDH1, IDH2, NPM1 and WT1 occurred primarily in AMLs.									
20625116	IDH2	Mutation	Acute Myeloid Leukemia	Recently, whole-genome sequencing in acute myeloid leukemia (AML) identified recurrent isocitrate dehydrogenase enzyme isoform (IDH1) mutations (IDH1m), previously reported to be involved in gliomas as well as IDH2 mutations (IDH2m).									
20615753	IDH2	Mutation	Glioma	Mutations in a homologous gene, IDH2, have also been identified, although they are much rarer. IDH1 and IDH2 mutations are early events in the development of gliomas. Molecularly, IDH1 and IDH2 mutations are heterozygous, affect only a single codon, and rarely occur together.									
20567020	IDH2	Mutation	Acute Myeloid Leukemia	IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication. IDH mutations were found in 129 patients (16.0%) -IDH1 in 61 patients (7.6%), and IDH2 in 70 patients (8.7%).									
20538800	IDH2	Mutation	Acute Myeloid Leukemia	Somatic mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) were recently demonstrated in acute myeloid leukemia (AML), but their prevalence and prognostic impact remain to be explored in large extensively characterized AML series, and also in various other hematologic malignancies. Thus, IDH1 and IDH2 mutations are common genetic aberrations in AML, and IDH1 mutations may carry prognostic value in distinct subtypes of AML.									
20510884	IDH2	Mutation	Glioma	Heterozygous mutations in either the R132 residue of isocitrate dehydrogenase I (IDH1) or the R172 residue of IDH2 in human gliomas were recently highlighted. The IDH1 and IDH2 mutations are relevant to the progression of gliomas, the prognosis and treatment of the patients with gliomas harboring the mutation.									
20465388	IDH2	Mutation	Diffuse Glioma	1p19q codeletion, O(6)-methylguanine DNA methyltransferase (MGMT) status, and mutations of isocitrate dehydrogenases 1 and 2 (IDH1/IDH2) are currently the three most pertinent markers in diffuse gliomas.									
20431032	IDH2	Mutation	Diffuse Glioma; Glioblastoma	IDH1 and IDH2 mutations were detected in 72% of lower grade diffuse gliomas and in 17% of glioblastomas.									
20427748	IDH2	Mutation	Glioma	This 100% mutation rate contrasted strikingly with other gliomas exhibiting either variable 1p and 19q alterations (n = 159, IDH1/IDH2 mutation rate of 33%) or no 1p19q alteration (n = 477, IDH1/IDH2 mutation rate 32%). Our data also confirm the prognostic impact of IDH1/IDH2 mutation in gliomas whatever grade considered: patients harboring mutations of IDH1/IDH2 have an improved median overall survival.									
20421455	IDH2	Mutation	Acute Myeloid Leukemia; Myeloproliferative Neoplasm	Mutations in the nicotinamide adenine dinucleotide phosphate(+)-dependent isocitrate dehydrogenase gene 2 (IDH2) have recently been found in patients with acute myeloid leukemia (AML) as well as in patients with leukemic transformation of myeloproliferative neoplasms. IDH2 mutations of amino acid 140 or 172 could be identified in 12.1% of CN-AML patients, with the majority of mutations (90%) occurring at position R140. In conclusion, IDH2 mutations are frequently found in CN-AML, but in our analysis these mutations did not influence treatment outcome.				IDH1	Mutually exclusive mutation	IDH2 mutations were mutually exclusive with mutations in IDH1.			
20368543	IDH2	Mutation	Acute Myeloid Leukemia	IDH2 mutations, previously unreported in AML, were detected in 69 patients (19%; 13 with R172 and 56 with R140). CONCLUSION IDH1 and IDH2 mutations are recurrent in CN-AML and have an unfavorable impact on outcome.									
20171178	IDH2	Mutation	Glioblastoma	Mutations in the genes for isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) have been recently identified in glioblastoma.									
20171147	IDH2	Mutation	Leukemia	The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate.				2HG	Mutation-induced positive correlation	The remaining cases with elevated 2HG had mutations in IDH2, the mitochondrial homolog of IDH1.			
20131059	IDH2	Mutation	Glioma; Diffuse Astrocytoma; Oligodendroglioma	Diffusely infiltrating cerebral gliomas frequently carry point mutations in codon 132 of the isocitrate dehydrogenase 1 (IDH1) gene or in codon 172 of the IDH2 gene, which are both clinically important as diagnostic and prognostic markers.									
28345460	CARM1	Overexpression	Colorectal Carcinoma	Expression analysis verified that microRNA-195-5p was markedly downregulated in human colorectal cancer tissues, which was negatively correlated with the elevated levels of coactivator-associated arginine methyltransferase 1 protein.	miR-195-5p	Negative regulation	Using bioinformatics-based prediction and luciferase reporter system, we found that coactivator-associated arginine methyltransferase 1 is post-transcriptionally targeted by microRNA-195-5p in colorectal cancer. Expression analysis verified that microRNA-195-5p was markedly downregulated in human colorectal cancer tissues, which was negatively correlated with the elevated levels of coactivator-associated arginine methyltransferase 1 protein.						
28255246	CARM1	Overexpression	Colorectal Carcinoma	miR-195 was downregulated, and CARM1 was upregulated in HCT-116 and HT-29 cells.									
28259135	CBX7	Loss of expression	Colon Carcinoma; Thyroid Gland Carcinoma	Loss of CBX7 expression has been described in several malignant neoplasias, including human colon and thyroid carcinomas proposing CBX7 as a tumor suppressor gene with a key role in cancer progression.							miR-155	Positive regulation	A direct significant correlation (r=0.6779) between CBX7 and miR-155 expression levels was found in a set of human colon carcinoma tissue samples. miR-155 is positively regulated by CBX7 in MEFs and colon carcinomas, and has KRAS as one of the target genes likely accounting for the anti-apoptotic activity ascribed to miR-155 in some tissue contexts.
28030829	CBX7	Underexpression	Pancreatic Carcinoma	Of note, CBX7 reduced PTEN/Akt signaling in pancreatic cancer cells by increasing PTEN transcription, suggesting involvement of PTEN/Akt pathway in the tumor suppressive activity of CBX7. These findings suggest CBX7 is an important tumor suppressor that negatively modulates PTEN/Akt signaling during pancreatic tumorigenesis.							PTEN/Akt signaling pathway	Negative regulation	Of note, CBX7 reduced PTEN/Akt signaling in pancreatic cancer cells by increasing PTEN transcription, suggesting involvement of PTEN/Akt pathway in the tumor suppressive activity of CBX7. These findings suggest CBX7 is an important tumor suppressor that negatively modulates PTEN/Akt signaling during pancreatic tumorigenesis.
28659719	CHD1	Mutation	Prostate Carcinoma	Using next-generation sequencing to analyze the mutations in PC, the main molecular PC subtypes were identified, which depended on the presence of fusion genes and FOXA1, CHD1, and SPOP point mutations; other driver mutations responsible for the progression of PC subclones were also characterized.									
28383660	CHD1	Loss of expression	Prostate Carcinoma	CHD1 loss sensitizes prostate cancer to DNA damaging therapy by promoting error-prone double-strand break repair. 									
27596623	CHD1	Loss of expression	Prostate Carcinoma	Loss of CHD1 causes DNA repair defects and enhances prostate cancer therapeutic responsiveness. The CHD1 gene, encoding the chromo-domain helicase DNA-binding protein-1, is one of the most frequently deleted genes in prostate cancer.									
27753448	CHD1	Loss of expression	Prostate Carcinoma	Deletions of CHD1 are not infrequent in PCa and may associate with increased AR activity and genomic instability, and these tumours could benefit from DNA-damaging therapies.									
28672194	BAG6	Underexpression	Clear Cell Renal Carcinoma	Furthermore, down-regulation of ATP5A1, ATPAF1, ATP5G1/G2/G3 was confirmed on the protein level using Western Blot and immunohistochemistry. We observed that altered expression of ATPAF1 and ATP5G1/G2/G3 was correlated with overall survival in patients with ccRCC.									
28529740	DOT1L	Overexpression (copy number gain)	Pancreatic Carcinoma	In total, 10/225 carcinoma cases (4.4%) analyzed by immunohistochemistry demonstrated intense nuclear protein expression of DOT1L and in 9/224 tumors analyzed using FISH (4.0%), copy-number variations (CNV) were detectable. No DOT1L amplification was detected in the carcinoma cohort.									
28231254	DOT1L	Mutation (gain of function)	Acute Myeloid Leukemia with Variant MLL Translocations	We used this approach to identify novel resistance alleles of two lysine methyltransferases, DOT1L and EZH2, which are each essential for the growth of MLL-fusion leukemia cells. We biochemically characterized the DOT1L mutation, showing that it is significantly more active than the wild-type enzyme.									
28209620	DOT1L	Overexpression	Neuroblastoma	In addition, high levels of DOT1L gene expression in human neuroblastoma tissues correlated with high levels of MYCN, ODC1, and E2F2 gene expression and independently correlated with poor patient survival.				MYCN; ODC1; E2F2	Positive correlation	In addition, high levels of DOT1L gene expression in human neuroblastoma tissues correlated with high levels of MYCN, ODC1, and E2F2 gene expression and independently correlated with poor patient survival.			
28114995	DOT1L	Overexpression	Ovarian Neoplasm	DOT1L expression and H3K79 methylation was significantly increased in malignant ovarian tumors.							CDK6; CCND3	regulation	Furthermore, DOT1L regulates the transcription of G1 phase genes CDK6 and CCND3 through H3K79 dimethylation; therefore, blocking DOT1L could result in G1 arrest and thereby impede the cell proliferation in vitro and tumor growth in vivo.
27683039	DOT1L	Mutation	Hyperdiploid B Acute Lymphoblastic Leukemia	One-third of patients harbored damaging mutations in epigenetic regulatory genes, including the putative novel driver DOT1L (n=4). Mutations in FLT3 significantly co-occurred with DOT1L (p=0.04), suggesting functional cooperation in leukemogenesis.				FLT3	Co-existing mutation	Mutations in FLT3 significantly co-occurred with DOT1L (p=0.04), suggesting functional cooperation in leukemogenesis.			
28337266	ATF2	altered expression	Prostate Carcinoma	Long non-coding RNA UCA1 promotes cell progression by acting as a competing endogenous RNA of ATF2 in prostate cancer. UCA1 directly interacted with miR-204 and decreased the binding of miR-204 to ATF2 3'UTR, which suppressed the degradation of ATF2 mRNA by miR-204.	UCA1	Positive regulation	In addition, we found that ATF2 was a direct target gene of UCA1. UCA1 directly interacted with miR-204 and decreased the binding of miR-204 to ATF2 3'UTR, which suppressed the degradation of ATF2 mRNA by miR-204.						
28318081	ATF2	Overexpression	Pancreatic Carcinoma	The results of our study showed that the ATF2 level in the pancreatic cancer tissues was higher than that in the adjacent non-tumorous tissues.									
28302137	CREBBP	Mutation	Diffuse Large B-Cell Lymphoma	Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort.									
28288979	CREBBP	Mutation	Follicular Lymphoma; Diffused Large-B Cell Lymphoma	Through the analysis of CREBBP mutations from a large cohort of primary human FL and DLBCL, we show a significant difference in the spectrum of CREBBP mutations in these 2 diseases, with higher frequencies of nonsense/frameshift mutations in DLBCL compared with FL.									
28253933	CREBBP	Mutation	Acute Lymphoblastic Leukemia	Presence of CREBBP/NT5C2 mutations suggests that a personalized therapeutic approach should be applied to these two patients.									
28106467	CREBBP	Mutation	Follicular Lymphoma	Recurrent mutations of histone modifiers KMT2D, CREBBP, EP300, EZH2, ARIDIA, and linker histones are likely early events arising in the CPC pool, rendering epigenetic based therapies conceptually attractive for treatment of indolent and transformed FL.									
28097792	CREBBP	Mutation	Acute Myeloid Leukemia	FISH identifies a KAT6A/CREBBP fusion caused by a cryptic insertional t(8;16) in a case of spontaneously remitting congenital acute myeloid leukemia with a normal karyotype.				KAT6A	Fusion	FISH identifies a KAT6A/CREBBP fusion caused by a cryptic insertional t(8;16) in a case of spontaneously remitting congenital acute myeloid leukemia with a normal karyotype. FISH for this translocation is warranted in congenital AML with a normal karyotype, and patients with KAT6A/CREBBP fusion should be conservatively managed.			
28069569	CREBBP	Mutation (loss of function)	Follicular Lymphoma; Diffused Large-B Cell Lymphoma	These findings establish CREBBP as a haploinsufficient tumor-suppressor gene in GC B cells and provide insights into the mechanisms by which its loss contributes to lymphomagenesis.Significance: Loss-of-function mutations of CREBBP are common and early lesions in FL and DLBCL, suggesting a prominent role in lymphoma initiation.									
28064239	CREBBP	Mutation	Follicular Lymphoma	CREBBP mutations were associated with inferior PFS.									
28062671	CREBBP	Mutation	Follicular Lymphoma; Diffused Large-B Cell Lymphoma	The work presented by Jiang and colleagues addresses how somatic mutations in CREBBP disable acetylation and cause unopposed deacetylation by BCL6/SMRT/HDAC3 complexes on enhancers of B-cell signaling and immune response genes.									
28007623	CREBBP	Mutation	Small Cell Lung Carcinoma	We also found mutations in other genes associated with transcriptional enhancer control, including CREB binding protein gene (CREBBP), E1A binding protein p300 gene (EP300), and chromodomain helicase DNA binding protein 7 gene (CHD7), and we report mutations in additional chromatin remodeling genes such as polybromo 1 gene (PBRM1).									
27979926	CREBBP	Mutation (loss of function)	Childhood Acute Lymphoblastic Leukemia	Recent studies have shown that heterozygous inactivating mutations in the histone acetyl transferase, CREBBP, are particularly frequent in relapsed childhood acute lymphoblastic leukemia and associated with a hyperdiploid karyotype and KRAS mutations.									
27742770	CREBBP	Mutation	Diffuse Large B-Cell Lymphoma	Cell lines expressing high BCL6 levels or CREBBP/EP300 mutations were sensitive to GSK-J4.									
27537276	CREBBP	Mutation	Fibromyxoid Stroma Formation	Both OFMTs with CREBBP-BCORL1 fusions had areas of typical OFMT morphology, exhibiting uniform round to epithelioid cells arranged in cords or nesting pattern in a fibromyxoid stroma.				BCORL1	Fusion	Both OFMTs with CREBBP-BCORL1 fusions had areas of typical OFMT morphology, exhibiting uniform round to epithelioid cells arranged in cords or nesting pattern in a fibromyxoid stroma.			
27407063	CREBBP	Mutation	Mantle Cell Lymphoma	Molecular cytogenetic methods together with whole-exome sequencing revealed numerous gene alterations restricted to the MCL clone (apart from the canonical t(11;14)(q13;q32) translocation) including gain of one copy of ATM gene or emergence of TP53, CREBBP, NUP214, FUBP1 and SF3B1 gene mutations.									
27733359	CREBBP	Mutation (loss of function)	B-Cell Non-Hodgkin Lymphoma	Somatic mutations in CREBBP occur frequently in B-cell lymphoma. HDAC3 loss-of-function rescued repression of these enhancers and corresponding genes, including MHC class II, and more profoundly suppressed CREBBP-mutant lymphomas in vitro and in vivo Hence, CREBBP loss-of-function contributes to lymphomagenesis by enabling unopposed suppression of enhancers by BCL6/SMRT/HDAC3 complexes, suggesting HDAC3-targeted therapy as a precision approach for CREBBP-mutant lymphomas.Our findings establish the tumor suppressor function of CREBBP in GC lymphomas in which CREBBP mutations disable acetylation and result in unopposed deacetylation by BCL6/SMRT/HDAC3 complexes at enhancers of B-cell signaling and immune response genes.									
28698407	CTCF		Breast Carcinoma	Although CTCF deletion or mutation has been associated with human breast cancer, the role of CTCF in breast cancer is questionable. The results showed that CTCF expression in human breast cancer cells and tissues was significantly lower than that in normal breast cells and tissues.									
28648147	CTCF	altered expression	Breast Carcinoma	Previous studies revealed that various diseases including breast cancer were developed from aberrant expression of CTCF itself or their target genes. In this review, we will describe dysfunction of CTCF that induces tumorigenesis and summarize the functional roles of CTCF in breast cancer.									
28319062	CTCF	Mutation	Endometrial Carcinoma	CTCF is frequently mutated in endometrial cancer.									
27974201	CTCF	Mutation	Melanoma	CTCF binding sites are frequently mutated in cancer, but how these mutations accumulate and whether they broadly perturb CTCF binding are not well understood. While topologically associating domains with mutated CTCF anchors in melanoma contain differentially expressed cancer-associated genes, CTCF motif mutations appear generally under neutral selection.									
27638884	CTCF	Underexpression	Breast Carcinoma	Furthermore, the depletion of CTCF facilitates the expression of target genes associated with cell division and increases the rate of breast cancer cell proliferation.									
27793800	HAT1	Underexpression	Chronic Obstructive Pulmonary Disease; Lung Carcinoma	Our qPCR validation data revealed a significant downregulation of Dnmt1, Dnmt3a, Dnmt3b, Hdac2, Hdac4, Hat1, Prmt1, and Aurkb. We identified targeted chromatin histone marks (H3K56ac and H4K12ac), which are induced by CS.									
27655674	HAT1	altered expression	Renal Cell Carcinoma	The results revealed aberrant expression of epigenetic regulatory genes involved in DNA methylation (DNMT1, DNMT3a and MBD4) and histone modifications (HDAC1, HMT1 and HAT1) in HK-2 cells malignantly transformed by chronic oxidative stress.									
28498393	CLOCK	Overexpression	Colorectal Carcinoma	Our results showed that the expression level of hClock significantly increased in human CRC tissues, which strongly associated with late TNM stage and positive lymph node metastasis. Moreover, a higher level of hClock expression was found in CRC cell lines with a higher metastatic potential.							HIF-1α; ARNT; VEGF	Positive regulation	Finally, we found that overexpression of hClock enhanced the expression of angiogenesis-related genes such as HIF-1α, ARNT and VEGF, and promoted epithelial-mesenchymal (-like) transition (EMT) in CRC cells, both of which are considered to be critical for tumor progression.
28177907	CLOCK	SNP	Breast Carcinoma	We identified 10 single nucleotide polymorphisms (SNPs) significantly associated with cancer risk: NPAS2 rs10165970 (mixed and breast cancer shiftworkers), rs895520 (mixed), rs17024869 (breast) and rs7581886 (breast); CLOCK rs3749474 (breast) and rs11943456 (breast); RORA rs7164773 (breast and breast cancer postmenopausal), rs10519097 (breast); RORB rs7867494 (breast cancer postmenopausal), PER3 rs1012477 (breast cancer subgroups) and assessed the level of quality evidence to be intermediate.									
28109907	CLOCK	genetic aberration	Breast Carcinoma	We summarize fifteen epidemiological studies, including five studies on shift work that have indicated BMAL1, BMAL2, CLOCK, NPAS2, CRY1, CRY2, PER1, PER3 and TIMELESS as a candidate breast cancer risk variants.									
28073598	HDAC10	Loss of expression	Ovarian Carcinoma	Using The Cancer Genome Atlas (TCGA) dataset, we found that deep deletions in HDAC10 occurred in 5-10% of ovarian cancer tumors. From the TCGA data we found that low HDAC10 mRNA levels correlated with platinum sensitivity of the tumors.									
28299580	HDAC7	Underexpression	Gastric Carcinoma	We found that HDAC7 was downregulated in cancerous gastric tissues (P=0.0019).				Ki-67	Positive correlation	However, the expression of HDAC7 in cancerous gastric tissues positively correlated with Ki-67 expression (P=0.0325) and distant metastasis (P=0.020).			
27793800	HDAC4	Underexpression	Chronic Obstructive Pulmonary Disease	Our qPCR validation data revealed a significant downregulation of Dnmt1, Dnmt3a, Dnmt3b, Hdac2, Hdac4, Hat1, Prmt1, and Aurkb.									
28396363	HDAC11	Mutation	Lung Carcinoma	In one of these, the cells have acquired sensitivity to erlotinib, concomitantly with mutations of the KIRREL, HDAC11, HIATL1, and MAPK1IP1L genes, among others.									
28646552	HDAC4	Overexpression	Hepatocellular Carcinoma	Because histone deacetylase 4 (HDAC4) is highly expressed in liver cancer and known to regulate oncogenesis through chromatin structure remodeling and controlling protein access to DNA, we postulated that HDAC4 inhibition might enhance radiation's effect on HCC cells.									
27793800	HDAC2	Underexpression	Chronic Obstructive Pulmonary Disease	Our qPCR validation data revealed a significant downregulation of Dnmt1, Dnmt3a, Dnmt3b, Hdac2, Hdac4, Hat1, Prmt1, and Aurkb.									
28054944	CREBBP	Mutation	B Acute Lymphoblastic Leukemia	Examples of chromatin modifiers recurrently mutated/disrupted in BCP-ALL and associated with disease outcomes include MLL1, CREBBP, NSD2, and SETD2.									
28653891	HDAC5	Overexpression	Hepatocellular Carcinoma	Finally, clinical analysis confirmed the positive correlation between histone deacetylase 5 and hypoxia-inducible factor-1α in hepatocellular carcinoma specimens and a relatively poor prognosis for the patients with high levels of histone deacetylase 5 and hypoxia-inducible factor-1α.				HIF-1α	Positive correlation	Finally, clinical analysis confirmed the positive correlation between histone deacetylase 5 and hypoxia-inducible factor-1α in hepatocellular carcinoma specimens and a relatively poor prognosis for the patients with high levels of histone deacetylase 5 and hypoxia-inducible factor-1α.			
28440397	HDAC5	Overexpression	Non-small Cell Lung Carcinoma	In the present study, aberrant high levels of HDAC5 were observed in non-small cell lung cancer (NSCLC) and further analysis indicated a negative relationship between HDAC5 and a tumor suppressor, miR5895p, in NSCLC specimens.	miR-589-5p	Negative regulation	Hypermethylation of miRNA-589 promoter leads to upregulation of HDAC5 which promotes malignancy in non-small cell lung cancer. Consistently, miR5895p reduced the expression of HDAC5 by targeting the 3'UTR of HDAC5 mRNA in NSCLC cells.						
28235630	HDAC5	Overexpression	Pancreatic Neuroendocrine Carcinoma	Immunohistochemical profiling revealed a significant up-regulation of all HDAC classes in pNET versus control with different levels of intensity and extensity ranging from 1.5 to >7-fold up-regulation. Additionally, expression of several HDACs (HDAC-1, -2, -5, -11 and Sirt 1) was significantly increased in G3 tumors.									
28077642	HDAC5	Overexpression	Ovarian Carcinoma; Lung Carcinoma	Here, we demonstrate, using patient biopsy specimens, that HD5 is also expressed as an active, secreted peptide by epithelial ovarian and lung cancer cells in situ This finding prompted us to study the role of HD5 in infection and spread of replication-competent, oncolytic HAdV type 3 (HAdV3).									
28054944	WHSC1	Mutation	Childhood B Acute Lymphoblastic Leukemia	Examples of chromatin modifiers recurrently mutated/disrupted in BCP-ALL and associated with disease outcomes include MLL1, CREBBP, NSD2, and SETD2.									
27993968	HDAC9	Overexpression	Lymphoma	GEP revealed upregulation of MAPK10, HELIOS, HDAC9, and FYN, as well as downregulation of SH3BP5 and LCK.									
28592712	HDGF	Overexpression	Non-small Cell Lung Carcinoma	The high expression of HDGF in non-small cell lung cancer (NSCLC) tissues is associated with unfavorable prognosis.									
27692835	HDGF	Overexpression	Prostate Carcinoma	Here, we show that HDGF is overexpressed in both androgen-sensitive LNCaP cells and androgen-insensitive DU145, 22RV1, and PC-3 cells.							Cyclin E; BCL-2; BAX	Positive regulation; Positive regulation; Negative regulation	We also show that HDGF may serve as a survival-related protein as ectopic overexpression of HDGF in RWPE cells up-regulated the expression of antiapoptosis proteins cyclin E and BCL-2, whereas simultaneously down-regulating proapoptotic protein BAX.
27599551	SIRT7	Overexpression	Non-small Cell Lung Carcinoma	Results showed that SIRT7 was highly expressed in NSCLC cell lines, as detected by real-time quantitative polymerase chain reaction and western blot analysis.	miR-3666	Regulation	Bioinformatics algorithms indicated that SIRT7 was a putative target of microRNA-3666 (miR-3666).						
28537669	WHSC1	Overexpression	Ovarian Carcinoma	E2F2 induces MCM4, CCNE2 and WHSC1 upregulation in ovarian cancer and predicts poor overall survival. MCM4, CCNE2, and WHSC1 are co-upregulated with E2F2 among the 308 ovarian cancer samples (Pearson's r=0.5159, 0.3963 and 0.4941 respectively). MCM4, CCNE2, and WHSC1 are co-upregulated with E2F2 in ovarian cancer.	E2F2	Positive regulation	Enforced E2F2 expression significantly increased MCM4, CCNE2, and WHSC1 expression in ovarian cancer cells.	MCM4; CCNE2	Positive correlation	MCM4, CCNE2, and WHSC1 are co-upregulated with E2F2 in ovarian cancer.			
28512191	WHSC1	Overexpression	Gastric Carcinoma	These effects were clinically relevant, as low miR-2392 expression was correlated with high MAML3 and WHSC1 expression and poor survival in patients with GC.									
28338204	WHSC1	Overexpression	Plasma Cell Myeloma; Gastric Carcinoma; Colon Carcinoma; Osteosarcoma	Histone lysine methyltransferase NSD2 was frequently overexpressed in multiple types of cancer such as multiple myeloma, stomach and colon cancer, and the overexpression of it usually associated with aggressiveness tumor type. The higher expression of NSD2 in tumors resulted in a poorer outcome and a worse 5-year overall survival.									
28260054	WHSC1	Overexpression (hypomethylation)	Cervical Carcinoma	In the present study, we found that the mRNA levels of WHSC1 were significantly increased in cervical cancer cells, and that CpG sites were almost fully methylated in HaCaT cells, but partially methylated in HeLa and C33A cells. Clinically, the results of quantitative methylation-specific PCR (QMSP) and quantitative real-time PCR (qRT-PCR), showed that methylation levels of the WHSC1 gene were significantly decreased in cervical cancer tumors and inversely correlated with its mRNA expression levels.							AKT/MMP-2 signaling	Positive regulation	AKT/metalloproteinase-2(MMP-2) signaling was activated and inactivated upon overexpression and silencing of WHSC1, respectively.
28148777	WHSC1	Overexpression	Plasma Cell Myeloma	ACA11 and MMSET are overexpressed cotranscriptionally as a result of the t(4;14) chromosomal translocation in a subset of patients with MM.									
28260932	HDAC7	Overexpression	Chronic Lymphocytic Leukemia	The level of HDAC1 and HDAC7 mRNA expression was significantly increased (P=0.02 and P=0.008, respectively) and HDAC2 and P300 mRNA expression was reduced in patients with CLL (P=0.002 and P=0.001, respectively).									
27872090	WHSC1	Mutation (gain of function)	Childhood Acute Lymphoblastic Leukemia	The mutant WHSC1 was established as a gain-of-function oncogene, while the epigenetic regulator ARID1A and transcription factor CTCF were functionally identified as potential tumor suppressors.									
27109101	WHSC1	Overexpression	Plasma Cell Myeloma	MMSET/WHSC1 is a histone methyltransferase (HMT) overexpressed in t(4;14)+ multiple myeloma (MM) patients, believed to be the driving factor in the pathogenesis of this MM subtype.									
26512949	WHSC1	genetic alteration	Prostate Carcinoma	The progression to AIPC is due to genetic alterations that allow PC cancer cells to grow in the absence of androgen. A total of 11 promising candidate AIPC genes were identified: GLYATL1, FLNA, OBSCN, STRA13, WHSC1, ARFGAP3, KDM2A, FAM83H, CLDN7, CNOT6, and B3GNT9.									
28600475	HDAC2	Overexpression	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma; Thyroid Gland Carcinoma	HDAC2 was upregulated in ATC and other thyroid cancer histologic subtypes.									
28260932	HDAC2	Underexpression	Chronic Lymphocytic Leukemia	The level of HDAC1 and HDAC7 mRNA expression was significantly increased (P=0.02 and P=0.008, respectively) and HDAC2 and P300 mRNA expression was reduced in patients with CLL (P=0.002 and P=0.001, respectively).									
28262837	HDAC2	Overexpression	Hepatocellular Carcinoma	Low expression of FBP1 correlated with high levels of histone deacetylase 1 (HDAC1) and HDAC2 proteins in HCC patient tissues.				FBP1	Negative correlation	Low expression of FBP1 correlated with high levels of histone deacetylase 1 (HDAC1) and HDAC2 proteins in HCC patient tissues.			
28419090	HDAC4	Overexpression	Leiomyosarcoma	Class IIa HDACs are overexpressed in 22% of LMS, where high levels of MEF2, HDAC4 and HDAC9 inversely correlate with overall survival.									
28419090	HDAC9	Overexpression	Leiomyosarcoma	Class IIa HDACs are overexpressed in 22% of LMS, where high levels of MEF2, HDAC4 and HDAC9 inversely correlate with overall survival.									
28513825	TET1	Loss of expression	Colon Carcinoma	Loss of TET1 facilitates DLD1 colon cancer cell migration via H3K27me3-mediated down-regulation of E-cadherin. Loss of TET1 increased EZH2 expression and reduced UTX-1 expression, thus increasing histone H3K27 tri-methylation causing repression of the target gene E-cadherin.							EZH2; E-cadherin; UTX-1	Negative regulation; positive regulation; Positive regulation	Loss of TET1 increased EZH2 expression and reduced UTX-1 expression, thus increasing histone H3K27 tri-methylation causing repression of the target gene E-cadherin.
27832326	HDAC2	Overexpression	Glioblastoma	It showed that HDAC2 expression is significantly up-regulated in GBM cells.									
27721407	HDAC2	Overexpression	Pancreatic Carcinoma	Here, we show that the class I histone deacetylases HDAC1 and HDAC2 contribute to maintain the expression of p53 mutants in human and genetically defined murine pancreatic cancer cells.				TP53	Binding	We further show that HDAC1, HDAC2 and MYC directly bind to the TP53 gene and that MYC recruitment drops upon HDAC inhibitor treatment.			
27705912	HDAC2	Overexpression	Cholangiocarcinoma	In this study, we found that expression of HDACs 2, 3, and 8 were up-regulated in CCA tissues and those patients with high expression of HDAC2 and/or HDAC3 had a worse prognosis.									
27665474	HDAC2	Overexpression	Non-small Cell Lung Carcinoma	We evaluated the expression of class I HDACs in non-small cell lung cancer (NSCLC) cells and found that HDAC2 was significantly increased in NSCLC cells as compared with the normal bronchial epithelial cell line BEAS-2B.							Fibronectin	Positive regulation	Over expression of HDAC2 increased the protein and mRNA expression of fibronectin (FN), which can accelerate the metastasis of cancer cells.
27635950	HDAC2	Overexpression	Hepatoblastoma	Subsequent expression analysis of primary HB and HB cell lines revealed a general overexpression of HDAC1 and HDAC2, which has been suggested to be predictive for the efficacy of HDAC inhibition.									
28505004	YY1	Mutation	Plasma Cell Myeloma	A gene fusion involving EWSR1 and YY1 gene on 14q32 has been reported in 2 patients over the age of 60 with peritoneal MM.				EWSR1	Fusion	A gene fusion involving EWSR1 and YY1 gene on 14q32 has been reported in 2 patients over the age of 60 with peritoneal MM.			
28485541	YY1	Overexpression	Laryngeal Carcinoma	YY1 and MYCT1 were upregulated and downregulated at transcriptional level in laryngeal cancer, respectively, which showed a negative correlation between YY1 and MYCT1 expression in laryngeal cancer.				MYCT1	Negative correlation	YY1 and MYCT1 were upregulated and downregulated at transcriptional level in laryngeal cancer, respectively, which showed a negative correlation between YY1 and MYCT1 expression in laryngeal cancer.			
28394354	YY1	Overexpression	Lung Carcinoma	Clinical evidence further confirms that high expression of MCT-1 is associated with an increase in YY1, EGFR and MnSOD expression, accompanied by tumor recurrence, poor overall survival and EGFR mutation status in patients with lung cancers.									
27829535	YY1	Overexpression	Rheumatoid Arthritis	In this study, we found that YY1 was over-expressed in RA patients and CIA mice.							IL-6	Positive regulation	Finally, we showed YY1 positively regulated IL-6 transcription by binding to the promoter region of the IL-6 gene.
27793842	YY1	Overexpression	Pancreatic Carcinoma	Here, we show how KRAS acts through inflammatory NF-κB signaling to activate the transcription factor YY1, which represses expression of the tumor suppressor gene miR-489.	KRAS	Positive regulation	Here, we show how KRAS acts through inflammatory NF-κB signaling to activate the transcription factor YY1, which represses expression of the tumor suppressor gene miR-489.						
27663660	YY1	Overexpression	Colon Carcinoma	In summary, our investigation revealed that miR-215 was downregulated in colon cancer and it suppressed colon cancer cell proliferation, migration and invasion by directly targeting YY1.	miR-215	Negative regulation	In summary, our investigation revealed that miR-215 was downregulated in colon cancer and it suppressed colon cancer cell proliferation, migration and invasion by directly targeting YY1.						
27086928	YY1	Overexpression	Colon Carcinoma	WNT signaling microarray, immunoblotting and immunohistochemistry analyses of tumors derived from the Villin-Cre;Nedd4(fl/fl);Apc(+/min) colons demonstrated elevated expression of the WNT upstream effectors LEF1 (full length) and YY1 in these tumors relative to control (Apc(+/min) alone) tumors.							WNT	Positive regulation	WNT signaling microarray, immunoblotting and immunohistochemistry analyses of tumors derived from the Villin-Cre;Nedd4(fl/fl);Apc(+/min) colons demonstrated elevated expression of the WNT upstream effectors LEF1 (full length) and YY1 in these tumors relative to control (Apc(+/min) alone) tumors.
28661477	TET1	Underexpression	Hepatocellular Carcinoma	Here, we demonstrated that TET-family enzymes downregulation was one likely mechanism underlying 5-hmC loss in HCC. Furthermore, miR-29a silenced anti-metastatic SOCS1 through direct TET-family targeting, resulting in SOCS1 promoter demethylation inhibition. Chromatin immunoprecipitation analyses confirmed that TET1 regulated SOCS1 expression through binding to the promoter region of SOCS1.	miR-29a	Negative regulation	Here, we demonstrated that TET-family enzymes downregulation was one likely mechanism underlying 5-hmC loss in HCC.  Furthermore, miR-29a silenced anti-metastatic SOCS1 through direct TET-family targeting, resulting in SOCS1 promoter demethylation inhibition. Chromatin immunoprecipitation analyses confirmed that TET1 regulated SOCS1 expression through binding to the promoter region of SOCS1.	SOCS1	Binding	Chromatin immunoprecipitation analyses confirmed that TET1 regulated SOCS1 expression through binding to the promoter region of SOCS1.			
28531272	TET1	Overexpression	Breast Carcinoma; Cervical Carcinoma; Ovarian Carcinoma; Glioblastoma	TET1ALT is aberrantly activated in multiple cancer types including breast, uterine and glioblastoma, and TET1 activation is associated with a worse overall survival in breast, uterine and ovarian cancers.									
28521490	TET1	Underexpression	Cervical Carcinoma	The present study demonstrated a significantly reduced level of TET1 transcripts in cancerous cervical tissues, as compared with non-cancerous tissues.									
28560068	SIRT7	Overexpression; copy number gain	Breast Carcinoma	We demonstrated that HDAC2 and SIRT7 were the most commonly amplified/overexpressed, and SIRT3 was most deleted/underexpressed, particularly in aggressive basal-like breast cancer.									
28560068	HDAC2	Overexpression; copy number gain	Breast Carcinoma	We demonstrated that HDAC2 and SIRT7 were the most commonly amplified/overexpressed, and SIRT3 was most deleted/underexpressed, particularly in aggressive basal-like breast cancer. Overexpression of HDAC2 was significantly correlated with high tumor grade, positive lymph node status, and poor prognosis.							RAD51	Positive reregulation	Furthermore, HDAC2 expression was positively correlated with a set of DNA-damage response genes, notably RAD51. We revealed a potential mechanism by which HDAC2 regulates RAD51 expression-by indirect mediation through microRNAs, e.g., miR-182.
28382153	TET1	Overexpression	Endometrial Endometrioid Carcinoma	Immunohistochemistry of EEC tissues showed that GPER expression was greatly increased in endometrial tissues from EEC subjects with insulin resistance and was positively correlated with Ten-eleven-translocation 1 (TET1) expression.									
28351182	TET1	Underexpression	Lung Carcinoma	In the present study, TET1 expression was abundant in U937 cells, but its expression was weakly expressed in A549 and THP-1 cells.									
28349832	TET1	Underexpression	Endometrial Carcinoma	We found that TET1 and TET2 messenger RNA expression was lower and TET3 was higher in cancers compared to normal tissues.				5hmC	Positive correlation	Positive correlation between 5-hmC and the relative expression of TET1 and TET2 was found, but no correlation was observed in the case of TET3.			
28228863	TET1	Overexpression	Medulloblastoma; Ependymoma	We demonstrate that both 5caC enrichment and elevated TET1 expression are observed in SHH medulloblastomas and ependymomas.									
27980696	TET1	Underexpression	Chronic Lymphocytic Leukemia	Moreover, TET1 expression decreased (P=0.0371), while TET3 and IDH2 expression increased (P=0.0273/0.0039) in co-cultures.									
27977763	TET1	Underexpression	Colorectal Carcinoma	5-hydroxymethylcytosine levels and TET1 expression are both reduced in CRC, while epigenetic silencing of TET1 is reportedly associated with the CpG island methylator phenotype.									
27889612	TET1	Overexpression	Endometrial Carcinoma	Mechanistically, insulin up-regulated TET1 expression and the latter played an important role in up-regulating GPER expression and activating PI3K/AKT signaling pathway.	Insulin	Positive regulation	Mechanistically, insulin up-regulated TET1 expression and the latter played an important role in up-regulating GPER expression and activating PI3K/AKT signaling pathway.				GPER	Positive regulation	Mechanistically, insulin up-regulated TET1 expression and the latter played an important role in up-regulating GPER expression and activating PI3K/AKT signaling pathway.
27846738	TET1	Underexpression	Colorectal Carcinoma	Compared to normal tissues, the expression level of TET1 in CRC was significantly lower.									
27555295	TET1	Loss of expression	Breast Carcinoma	TET1 silencing promoted cell growth and migration in breast cancer.	miR-29a	Negative regulation	MiR-29a targets TET1, down regulates its expression and thus promotes EMT in breast cancer.						
26608508	ZMYND11	Mutation	Acute Myeloid Leukemia	In this study, we show that this translocation results in an in-frame translocation fusing exon 12 of the tumor suppressor gene ZMYND11 to exon 3 of the chromatin protein MBTD1, encoding a protein of 1,054 amino acids, while the reciprocal fusion product is predicted to lack a productive start codon.				HOXA; MBTD	Positive correlation; fusion	In this study, we show that this translocation results in an in-frame translocation fusing exon 12 of the tumor suppressor gene ZMYND11 to exon 3 of the chromatin protein MBTD1, encoding a protein of 1,054 amino acids, while the reciprocal fusion product is predicted to lack a productive start codon. ZMYND11, also known as BS69, is a tumor suppressor that specifically recognizes H3K36me3, which is linked to aberrant HOXA expression in leukemogenesis			
20425112	ZMYND11	copy number change	hematological malignancies	We found significant association between the CNVs of BS69 and these hematological malignancies including acute lymphoblastic leukemia (ALL), acute myelogenous leukemia (AML), chronic lymphocytic leukemia (CLL), chronic myelogenous leukemia (CML), multiple myeloma (MM), and myelodysplastic syndrome (MDS). We also examined the expression of BS69 mRNA in the samples with one or two copies of DNA, and observed a weak yet positive correlation between the relative expression level and gene dosage. In general, the CNVs of BS69 have the potential to serve as a diagnostic indicator, alone or in combination with other markers, for hematological malignancies.									
27415155	ZMYM2	Mutation	Myeloproliferative Neoplasm	In summary, we present a unique EMS case involving a ZMYM2-FGFR1 fusion with distinctive hematologic characteristics.				FGFR1	Fusion	In summary, we present a unique EMS case involving a ZMYM2-FGFR1 fusion with distinctive hematologic characteristics.			
23594707	ZMYM2	Mutation	B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21	Karyotyping revealed cytogenetic abnormalities, including t(8;13)(p11;q12)/ZMYM2 (ZNF198)-FGFR1 and trisomy 21.									
21480320	ZMYM2	Underexpression	HBV mediated Hepatocellular Carcinoma	Elevated Plk1 and reduced protein levels of ZNF198 and SUZ12 were also observed in human liver cancer cell lines derived from HBV-related tumors and in the presence of HBV replication.									
9425908	ZMYM2	Mutation	Lymphoma; Myeloid Leukemia	A specific chromosome translocation, t(8;13)(p11;q11-12), is found in both lymphoma and myeloid leukemia cells from these patients, supporting bi-lineage differentiation from a transformed stem cell.				FGFR1	Fusion	These translocations are associated with aberrant transcripts in which four predicted zinc-finger domains, contributed by a novel and widely expressed chromosome-13 gene (ZNF198), are fused to the FGFR1 tyrosine-kinase domain. Transient expression studies show that the ZNF198-FGFR1 fusion transcript directs the synthesis of an approximately 87-kD polypeptide, localizing predominantly to the cytoplasm.			
26999717	ZBTB33	Overexpression	Triple-Negative Breast Carcinoma	In this study, we report that the novel POZ-ZF transcription factor Kaiso is highly expressed in TNBCs and correlates with a shorter metastasis-free survival.	 TGFβ pathway	Positive regulation	Notably, Kaiso expression is induced by the TGFβ pathway and silencing Kaiso expression in the highly invasive breast cancer cell lines, MDA-MB-231 (hereafter MDA-231) and Hs578T, attenuated the expression of several EMT-associated proteins (Vimentin, Slug and ZEB1), abrogated TGFβ signaling and TGFβ-dependent EMT.						
24570268	ZBTB33	Overexpression	Invasive ductal carcinoma	In IDCs, there was higher Kaiso expression in both the cytoplasmic and nuclear compartments, which correlated with age <48 (cytoplasmic p < 0.0093; nuclear p < 0.0001) and moderate differentiation (cytoplasmic p < 0.0042; nuclear p < 0.0001), as determined by Chi square analysis.				E-cadherin	Negative correlation	Immunofluorescence co-staining of poorly differentiated IDCs demonstrated that nuclear Kaiso is associated with a loss of E-cadherin expression.			
22662240	ZBTB33	Overexpression	 Invasive ductal carcinoma; Breast Carcinoma	Nuclear Kaiso was predominantly found in invasive ductal carcinoma (IDC) (p=0.007), while cytoplasmic Kaiso expression was linked to invasive lobular carcinoma (ILC) (p=0.006). Although cytoplasmic Kaiso did not correlate to clinicopathological features, we found a significant correlation between nuclear Kaiso, high histological grade (p=0.023), ERα negativity (p=0.001), and the HER2-driven and basal/triple-negative breast cancers (p=0.018). Interestingly, nuclear Kaiso was also abundant in BRCA1-associated breast cancer (p<0.001) and invasive breast cancer overexpressing EGFR (p=0.019).									
21070476	ZBTB33	Overexpression	Lung Carcinoma	Since δ-catenin is upregulated in human lung cancer, the effects of δ-catenin overexpression in lung cancer still need to be clarified. Immunohistochemistry was performed to investigate the expression of δ-catenin and Kaiso, a δ-catenin-binding transcription factor, in 151 lung cancer specimens. A correlation between cytoplasmic δ-catenin and Kaiso expression was also associated with high TNM stage, lymph node metastases and poor prognosis. Co-immunoprecipitation assay confirmed the interactions of δ-catenin and Kaiso in lung cancer cells.	δ-catenin	regulation	In addition, methylation-specific PCR and ChIP assay demonstrated that δ-catenin could regulate MTA2 via Kaiso in a methylation-dependent manner, while it could regulate cyclin D1 and MMP7 expression through Kaiso in a sequence-specific manner.				cyclin D1; NMP7	regulation	In addition, methylation-specific PCR and ChIP assay demonstrated that δ-catenin could regulate MTA2 via Kaiso in a methylation-dependent manner, while it could regulate cyclin D1 and MMP7 expression through Kaiso in a sequence-specific manner.
19615783	ZBTB33	Overexpression	Lung Carcinoma	Cytoplasmic Kaiso expression was correlated with cytoplasmic p120ctn, they formed Kaiso-p120ctn complex in lung cancer tissues and cell lines. In addition, p120ctn ablation and overexpression altered Kaiso subcellular localization and protein level.				p120ctn	Binding; positive correlation	Cytoplasmic Kaiso expression was correlated with cytoplasmic p120ctn, they formed Kaiso-p120ctn complex in lung cancer tissues and cell lines. In addition, p120ctn ablation and overexpression altered Kaiso subcellular localization and protein level. 			
27312530	YY1	Overexpression	Bladder Carcinoma; Lung Carcinoma; Prostate Carcinoma	In clinical bladder cancer specimens, expression of GON4L, YY1, and CD24 was elevated compared with normal bladder urothelium. This pathway is biologically relevant in other cancer types as well, where CD24 and the androgen receptor are clinically prognostic, given that silencing of GON4L and YY1 suppressed CD24 expression and growth of human lung, prostate, and breast cancer cells.				GON4L	binding	Mechanistically, GON4L interacted with transcription factor YY1, promoting its association with the androgen receptor to drive CD24 expression and cell growth.	CD24	Positive regulation	This pathway is biologically relevant in other cancer types as well, where CD24 and the androgen receptor are clinically prognostic, given that silencing of GON4L and YY1 suppressed CD24 expression and growth of human lung, prostate, and breast cancer cells.
27225481	YY1	Overexpression	Skin Carcinoma; Testis Cancer; Breast Carcinoma; Colorectal Carcinoma; Lymphoma; Melanoma	The relationship between YY1 and SOX2 expressions as well as the expressions of BMI1 and OCT4 resulted in the classification of four groups of cancers with distinct molecular signatures: (1) Prostate, lung, cervical, endometrial, ovarian and glioma cancers (YY1(lo)SOX2(hi)BMI1(hi)OCT4(hi)) (2) Skin, testis and breast cancers (YY1(hi)SOX2(lo)BMI1(hi)OCT4(hi)) (3) Liver, stomach, renal, pancreatic and urothelial cancers (YY1(lo)SOX2(lo)BMI1(hi)OCT4(hi)) and (4) Colorectal cancer, lymphoma and melanoma (YY1(hi)SOX2(hi)BMI1(lo)OCT4(hi)).									
27225481	YY1	Underexpression	Prostate Carcinoma; Lung Carcinoma; Endometrial Carcinoma; Ovarian Carcinoma; Glioma Carcinoma; Hepatocellular Carcinoma; Gastric Carcinoma; Urothelial Carcinoma	The relationship between YY1 and SOX2 expressions as well as the expressions of BMI1 and OCT4 resulted in the classification of four groups of cancers with distinct molecular signatures: (1) Prostate, lung, cervical, endometrial, ovarian and glioma cancers (YY1(lo)SOX2(hi)BMI1(hi)OCT4(hi)) (2) Skin, testis and breast cancers (YY1(hi)SOX2(lo)BMI1(hi)OCT4(hi)) (3) Liver, stomach, renal, pancreatic and urothelial cancers (YY1(lo)SOX2(lo)BMI1(hi)OCT4(hi)) and (4) Colorectal cancer, lymphoma and melanoma (YY1(hi)SOX2(hi)BMI1(lo)OCT4(hi)).									
27087319	YY1	Overexpression	Pancreatic Insulinoma	Positive expression for YY1 protein was detected in both benign and malignant tumor tissues, but the malignant tissues had a significantly greater intensity of YY1 expression than the benign tissues (P=0.042). The intensity of YY1 expression was positively correlated with the nature of the tumor, and the insulinomas with high expressions of YY1 had significantly greater malignant potentials (P=0.037).									
26800240	YY1	Overexpression	HBV-associated Hepatocellular Carcinoma	Gene expression analysis of human HBV-associated HCC specimens demonstrated concordant overexpression of YY1 and EZH2, which correlated with poor survival of patients in advanced stages.				EZH2	Positive correlation	Gene expression analysis of human HBV-associated HCC specimens demonstrated concordant overexpression of YY1 and EZH2, which correlated with poor survival of patients in advanced stages.	NF-κB signalling	Positive regulation	In conclusion, YY1 overexpression contributes to EZH2 recruitment for H3K27me3-mediated silencing of tumour-suppressive microRNAs, thereby activating NF-κB signalling in hepatocarcinogenesis
26185457	YY1	Hypermethylation	Colorectal Carcinoma	RPL22, RPL36, RPLP2, RPS7, and RPS9 were commonly regulated by transcription factors, and YY1 and IRF4 were hypermethylated. MAPK14, MAPK3, HRAS, YY1, and IRF4 may be considered as potential biomarkers for early diagnosis and therapy of CRC.									
26104682	YY1	Overexpression	Melanoma	Elevated YY1 levels were observed in patients with melanoma, compared with benign nevi and normal tissue controls, and the increased YY1 was associated with melanoma metastasis state and tumor stage.							miR-9	Negative regulation	Furthermore, YY1 negatively regulated miR-9 transcription. Silencing of YY1 inhibited proliferation, cell cycle progression, migration and invasion in melanoma cells, while ectopic of miR-9 did the same. Additionally, RYBP was shown to be a direct target of miR-9 through binding to its 3' UTR, thus forming a YY1~miR-9~RYBP axis.
25787250	YY1	Mutation	Pancreatic Insulinoma	Exome and targeted sequencing revealed that 14 of 43 insulinomas harbored the identical somatic mutation in the DNA-binding zinc finger of the transcription factor Yin Yang 1 (YY1). These findings indicate that YY1(T372R) mutations are neomorphic, resulting in constitutive activation of cAMP and Ca(2+) signaling pathways involved in insulin secretion.							 cAMP and Ca(2+) signaling pathways	Positive regulation	These findings indicate that YY1(T372R) mutations are neomorphic, resulting in constitutive activation of cAMP and Ca(2+) signaling pathways involved in insulin secretion.
25763608	YY1	Mutation	Pancreatic Insulinoma	The somatic Thr372Arg YY1 mutation is a relevant finding in female patients with sporadic insulinomas.									
25698133	YY1	Overexpression	Thyroid Gland Papillary Carcinoma; Thyroid Gland Follicular Carcinoma	YY1 was overexpressed in thyroid cancer cells, at transcription and protein levels. A significant increase of YY1 mRNA was also observed in tumor thyroid tissues. Moreover, immunohistochemical analysis of the thyroid cancer tissue microarray revealed that both papillary thyroid cancer (PTC) and follicular thyroid cancer (FTC) present increased YY1 protein levels (48 and 19%, respectively).									
25328408	YY1	Overexpression	Esophageal Squamous Cell Carcinoma	However, the YY1 protein level was significantly higher in ESCC tissues with lymph node metastasis than those without lymph node metastasis (P=0.042). Furthermore, the expression of the YY1 protein was stronger in stage III-IV patients than in stage I-II patients (P=0.002), but the protein levels between different histological grades (well, moderate, or poor) showed no statistical significance.									
25174820	YY1	Overexpression	Prostate Carcinoma	By contrast, YY1 expression was elevated in PCa tumors as compared with that in PIN, and was increased with higher tumor grade.							DR5	negative regulation	Death receptor5 (DR5) has been implicated in the prognosis of several cancers and it has been previously shown that it is negatively regulated by Yin Yang1 (YY1) in prostate cancer cell lines.
25053986	YY1	Overexpression	Prostate Carcinoma	YY1 expression is upregulated in human prostate cancer cell lines and tissues.									
24970600	YY1	Overexpression	Plasma Cell Myeloma	Significantly, higher expression (staining intensity and cell frequency) of YY1 in MM cell lines and in bone marrow-derived (BM) MM from 22 MM patients was observed as compared to expression in normal BM. Higher nuclear YY1 staining was associated with disease progression. Bioinformatic analyses of mRNA in data sets corroborated the above findings and showed significant overexpression of YY1 in MM compared to normal tissues and other hematopoietic disorders.									
24884523	YY1	Overexpression	Pancreatic Ductal Adenocarcinoma	We found that the expression of YY1 in PDACs was higher compared with their adjacent non-tumorous tissues and normal pancreas tissues.				MMP10	Negative correlation	YY1 expression levels were statistically negatively correlated with MMP10 expression levels, but not correlated with MUC4 expression levels			
24674326	YY1	Overexpression	Gastric Carcinoma	YY1 expression was up-regulated in gastric cancer cell lines and primary gastric cancers							Wnt/β-catenin pathway	Positive regulation 	Knocking down YY1 in gastric cancer cells suppressed proliferation by inhibiting Wnt/β-catenin pathway, whereas its overexpression exerted oncogenic property by activating Wnt/β-catenin pathway.
24481728	YY1	Overexpression	Renal Cell Carcinoma	In the present study, we demonstrated that levels of YY1 were significantly increased in primary RCC tissues when compared to these levels in the matched healthy tissues.	miR-34a	Negative regulation	Since YY1 is a direct target of miR-34a, the low level of miR-34a increased the expression of YY1, promoting the aggressiveness of RCC cells. 24481728-10 YY1 The expression of miR-34a displayed an inverse correlation with YY1, but a positive correlation with C/EBPα.				C/EBPα; miR-34a.	Negative regulation	We observed that overexpression of YY1 caused repression of C/EBPα and the inhibition of C/EBPα led to the suppression of miR-34a.
24481661	YY1	Overexpression	Plasma Cell Myeloma	Computational analysis of various GEO datasets revealed elevated YY1 and RKIP levels in MM vs. the normal plasma cells, as well as elevated RKIP levels in MM vs. normal B lymphocytes									
23919806	YY1	Overexpression	Esophageal Squamous Cell Carcinoma	 We found that the expression of YY1 mRNA was significantly increased in the tumor tissues, compared with the para-tissues or normal esophageal tissues.							 HO-1	Positive regulation	Moreover, besides P21, heme oxygenase-1 (HO-1) was identified as a YY1 downstream effector, as YY1 stimulated HO-1 expression in esophageal cancer cells.
23874387	YY1	Overexpression	Plasma Cell Myeloma	Here, we report that Yin Yang1 (YY1), a target gene for NF-κB, is hyperexpressed in most MM tumor cells obtained from human patients, exhibits constitutive nuclear localization, and is essential for survival of MM cells				RelA	form complex	Mechanistically, we report a novel YY1-RelA complex formation, which is essential to transcriptionally repress a proapoptotic gene Bim.	Bim	Negative regulation	Mechanistically, we report a novel YY1-RelA complex formation, which is essential to transcriptionally repress a proapoptotic gene Bim.
23705901	YY1	Overexpression	Kidney Angiomyolipomas	YY1 was also significantly increased in tumor tissue of AMLs compared to control kidney tissue suggesting that YY1 plays a major role in the regulation of αSMA									
23630070	YY1	Mutation	Mesothelioma	Screening 15 additional cases of mesothelioma from which we had RNA but no cytogenetic information, we identified one more tumor carrying an EWSR1-YY1 fusion gene but not the reciprocal YY1-EWSR1 transcript				EWSR1	Fusion	Screening 15 additional cases of mesothelioma from which we had RNA but no cytogenetic information, we identified one more tumor carrying an EWSR1-YY1 fusion gene but not the reciprocal YY1-EWSR1 transcript			
23328582	YY1	Overexpression	Colorectal Carcinoma	Furthermore, multivariate analysis revealed that patients with YY1 protein high expression had a significant decrease in overall survival, and Kaplan-Meier survival curves showed that these patients had significantly shorter survival than others (P<0.0001).	miR-7	Negative regulation	In conclusion, MiR-7 is a novel miRNA with tumor suppressive function in colon cancer by targeting oncogenic YY1.				p53; Wnt signaling pathways	negative regulation; positive regulation	YY1 promotes colon cancer growth through inhibiting p53 and promoting Wnt signaling pathways and serves as an independent prognostic biomarker for CRC patients.
22907428	YY1	Overexpression	Endometrioid Endometrial Carcinoma	We demonstrated that YY1 is upregulated in EEC cell lines and primary tumors; and its expression is associated with tumor stages.	 miR-193a-5p 	Negative regulation	Moreover, YY1 overexpression was found to be a consequence of miR-193a-5p downregulation through direct miR-193a-5p-YY1 interplay.	EZH2	Recruitment	Further mechanistic investigation uncovered a new epigenetic silencing mode of APC by YY1 through recruitment of EZH2 and trimethylation of histone 3 lysine 27 on its promoter region.	APC	Negative regulation	Transcriptome analysis revealed a significant effect of YY1 on critical aspects of EEC tumorigenesis through inhibition of APC expression
22536409	YY1	Overexpression	Prostatic Intraepithelial Neoplasia	Increased YY1 levels are observed in prostatic intraepithelial neoplasia (PIN) and advanced disease.									
22440256	YY1	Overexpression	Breast Carcinoma	We observed that, compared with normal samples, YY1 is generally overexpressed in breast cancer cells and tissues.							p27	Negative regulation	Furthermore, we detected an inverse correlation between YY1 and p27 expression in both breast cancer cells and xenograft tumors with manipulated YY1 expression. Counteracting the changes in p27 expression attenuated the effects of YY1 alterations on these cells. In addition, YY1 promoted p27 ubiquitination and physically interacted with p27.
22391813	YY1	Overexpression	Hepatocellular Carcinoma	We found that YY1 was upregulated in HCC cell lines.							CEBPA	negative regulation	CCAAT/enhancer-binding protein alpha (CEBPA) which was important to regulate differentiation of hepatocytes was found as the direct target downregulated by YY1.
22162832	YY1	Overexpression	Osteosarcoma	Overexpression of YY1 in primary site of osteosarcoma is associated with the occurrence of metastasis and poor clinical outcome.									
21735472	YY1	Overexpression	Cervical Carcinoma	These results demonstrated that the expression of YY1 is upregulated in cervical carcinomas and that YY1 plays a critical role in the progression of HPV-positive cervical cancer.	As2O3	regulation	Thus, YY1 is an As2O3 target and could serve as a potential drug sensitizer for anti-cervical cancer therapy.	HDAC1	binding	Furthermore, YY1 was physically associated with HDAC1 in a manner dependent on mTOR activation			
21503900	YY1	Overexpression	hepatoblastoma	Eight genes, including YY1 and IGF1, were upregulated in HBL cases that had a poor prognosis.							 HBV-induced HLJ1	Positive regulation 	Knockdown of YY1 expression could partially reduce the HBV-induced HLJ1 activation which indicated that YY1 would be involved in HBV-induced HLJ1 expression.
21332389	YY1	Overexpression	Hepatocellular Carcinoma	Hyperactivation of YY1 in tumors was corroborated by its nuclear localization and the finding that in the tumors there were also increases in YY1AP, a YY1 coactivator not expressed in normal liver, and in survivin, as a possible target of YY1.				YY1AP; RKIP	coactivator; negative correlation	Hyperactivation of YY1 in tumors was corroborated by its nuclear localization and the finding that in the tumors there were also increases in YY1AP, a YY1 coactivator not expressed in normal liver, and in survivin, as a possible target of YY1. The ratio of YY1 to RKIP mRNA was constantly profoundly inverted in the tumors compared with the adjacent nontumoral tissues.			
21109702	YY1	Overexpression	Follicular Lymphoma	Quantification of YY1 protein was carried out on 26 FL biopsy samples using quantum dot labelled immunohistochemistry. Ki-67 percentage, grade, YY1 protein levels and T cell and macrophage markers were used in a multivariable analysis for survival in 26 cases of FL. Expression levels of YY1 protein were significantly increased in patients alive in comparison with those dead after follow-up (p �?0.025).									
20081364	YY1	Overexpression	Lymphoma	In the present study, using computational methods, we showed that YY1 transcript levels were significantly increased in the high-grade lymphomas, including Burkitt's lymphoma and diffuse large B-cell lymphoma (DLBCL), compared with those of both low-grade lymphomas and normal B-cells.				BCL-6; PAX-5	Positive correlation	The association of YY1 expression with some clinical-pathological features in DLBCL showed a positive correlation between a high level of YY1 mRNA and high levels of BCL-6 protein. Moreover, by analyzing the large series of DLBCL in the Hummel dataset, we identified the transcription factor PAX-5 among the top 50 genes positively correlated with YY1.			
20025767	YY1	Overexpression	Breast Carcinoma	AP-2alpha/beta significantly correlated with YY1 and both markers were increased in luminal oestrogen receptor (ER) positive tumours of small size and low grade but only AP-2alpha/beta correlated with good prognosis breast cancer specific survival and disease free interval (BCSS and DFI).				AP-2alpha/beta; HER2	Positive correlation; correlation	AP-2alpha/beta significantly correlated with YY1 and both markers were increased in luminal oestrogen receptor (ER) positive tumours of small size and low grade but only AP-2alpha/beta correlated with good prognosis breast cancer specific survival and disease free interval (BCSS and DFI).  AP-2alpha and YY1 showed a significant correlation with Her2 protein expression and in addition, YY1 correlated with HER2 gene expression.			
19668226	YY1	Overexpression	Prostate Carcinoma	YY1 is highly expressed in various types of cancers, including prostate cancer.							AR	Regulation	Consistently, YY1 depletion in LNCaP cells reduced endogenous PSA levels, but overexpressed YY1 did not significantly increase PSA expression. We also observed that YY1-AR interaction is essential to YY1-mediated transcription activity of AR and YY1 is a necessary component in the complex binding to the androgen response element. Thus, our study demonstrates that YY1 interacts with AR and regulates its transcriptional activity.
19360355	YY1	Overexpression	Colon Carcinoma	In this study, we report that YY1 was uniformly highly over-expressed in a wide range of human cancer cell lines and in human colon cancer tissue samples.									
18488713	YY1	Overexpression	Osteosarcoma	These results indicate that overexpression of YY1 in osteosarcoma cells plays a key role in positive regulation of RIZ1.							RIZ1	Positive regulation 	These results indicate that overexpression of YY1 in osteosarcoma cells plays a key role in positive regulation of RIZ1.
17549406	YY1	Overexpression	Cervical intraepithelial neoplasia; Cervical Carcinoma	VEGF and TGF-beta1 mRNA overexpression was found to be associated with progression from low-grade to high-grade cervical intraepithelial neoplasia (CIN), while YY1 showed constitutively elevated transcript levels in CIN and cervical cancer compared to controls.				VEGF; TGF-beta1	Negative correlation	Spearman analysis revealed a co-expression pattern for VEGF and TGF-beta1 mRNAs in normal cervix and LG-SIL; however, YY1 expression correlated negatively with VEGF and TGF-beta1 transcript levels upon the onset of the cervical neoplastic transformation.			
16962318	YY1	Overexpression	Osteosarcoma	By using Western blot analysis, we have shown that the YY1 protein is strongly expressed in human osteosarcoma cells and localised mainly in the nucleus.									
15942652	YY1	Overexpression	Prostate Carcinoma	This study used tissue microarrays to investigate the expression and localization of YY1 in 1364 representative tissue samples from 246 hormone naive prostate cancer patients who underwent radical prostatectomy. Staining intensity and frequency measures for both YY1 nuclear and cytoplasmic expression were higher in neoplastic tissues and in PIN samples compared to matched benign cells (p < 0.0001 for all comparisons)									
12393438	YY1	Overexpression	Acute Myeloid Leukemia	Increased YY1 expression was seen in some cases of human AML.									
27272765	TDRD1	Overexpression	Prostate Neoplasm	Among 131 primary prostate tumors which were primarily from European American patients, TDRD1 is over-expressed in 68% of samples, while ERG is overexpressed in 48% of samples, suggesting an additional ERG-independent mechanism of TDRD1 overexpression.	ERG	Regulation	As an ERG target gene, TDRD1 might play an important role in human prostate cancer development, and as a cancer/testis antigen, TDRD1 might have long-term potential to be a therapeutic target for prostate cancer immunotherapy.						
24938434	TDRD1	hypomethylation	Prostate Carcinoma	A multiplexed nested methylation-specific PCR was applied to quantify promoter methylation of the selected markers in five cell lines, 42 benign prostatic hyperplasia (BPH) and 71 high-risk PCa tumor samples. High methylation of PITX2, HOXD3 and RASSF1, as well as low methylation of TDRD1, appeared to be significantly associated with a higher risk for BCR (HR 3.96, 3.44, 2.80 and 2.85, correspondingly) after correcting for established risk factors.									
23555854	TDRD1	Overexpression	Prostate Carcinoma	Given the prevalence of ERG fusions, TDRD1 overexpression is a common alteration in human prostate cancer which may be exploited for diagnostic or therapeutic procedures.	ERG	Positive regulation	By manipulation of ERG dosage through gene silencing and forced expression we show that ERG governs loss of DNA methylation at the TDRD1 promoter-associated CpG island, leading to TDRD1 overexpression.						
23319146	TDRD1	Overexpression	Prostate Carcinoma	In late-stage prostate cancer, TDRD1 was also coexpressed with ERG overexpression, although a proportion of ERG-negative late-stage samples expressed TDRD1.	ERG	Positive regulation	In late-stage prostate cancer, TDRD1 was also coexpressed with ERG overexpression, although a proportion of ERG-negative late-stage samples expressed TDRD1. line VCaP, downregulation of ERG by shRNA lead to a lower expression level of TDRD1 and resulted in a decreased activity of the TDRD1 promoter. Our findings show TDRD1 as the first identified upregulated direct ERG target gene that is strongly associated with ERG overexpression in primary prostate cancer.						
23135352	TDRD1	Overexpression	Prostate Carcinoma	 Our analysis identified 12epigenetics-related genes with a more than 2-fold increase or decrease in expression and a p-value <0.01. In modera-tely differentiated tumors compared to normal glands of the peripheral zone, we found the genes, TDRD1, IGF2, DICER1, ADARB1, HILS1, GLMN and TRIM27, to be upregulated, whereas TNRC6A and DGCR8 were found to be downregulated.									
22904677	TDRD1	Overexpression (hypomethylation)	Prostate Carcinoma	Interestingly, we demonstrate that the expression of TDRD1, the topmost overexpressed gene of our list of ERG-specific candidate targets, is inversely correlated with the methylation levels of a CpG island found at -66 bp of the transcription start site in PCa and that TDRD1 expression is regulated by direct binding of ERG to the CpG island in VCaP cells.	ERG	Regulation	Interestingly, we demonstrate that the expression of TDRD1, the topmost overexpressed gene of our list of ERG-specific candidate targets, is inversely correlated with the methylation levels of a CpG island found at -66 bp of the transcription start site in PCa and that TDRD1 expression is regulated by direct binding of ERG to the CpG island in VCaP cells.						
26791953	CBX5	Underexpression	Metastatic Malignant Neoplasm in the Breast	CBX5 is down-regulated at the transcriptional and protein level in metastatic compared to non-metastatic breast cancer.				STET	Negative correlation	In addition, another CBX5 transcriptional isoform, STET, was discovered. Inverse correlation between STET and HP1α coding CBX5 mRNA expression was observed in breast cancer cell lines and tissue samples from breast cancer patients.			
27688749	L3MBTL1	Hypermethylation	Adenoma	We identified hypermethylated CpG sites in the following genes: L3MBTL1, NKX6-2, PREX1, TRAF7, PRDM14, and NEFM with the number of CpG sites being 14, 17, 10, 16, 6, and 6, respectively, after pairwise analysis of normal versus adenoma, adenoma versus cancer, and normal versus cancer.									
22170482	L3MBTL1	Mutation; altered expression	Myeloproliferative Neoplasm	In addition to mutation, alterations in the expression or activity of chromatin-modifying/reading proteins PRMT5 and L3MBTL1 have been found to be important in MPN development.									
21837478	L3MBTL1	Loss of Expression	Hematopoietic Malignancies 	We propose that the loss of L3MBTL1 contributes to the development of 20q(-) hematopoietic malignancies by inducing replicative stress, DNA damage, and genomic instability.									
20585043	L3MBTL1	Underexpression (copy number loss)	Myeloproliferative Neoplasm	Our data suggest that haploinsufficiency of L3MBTL1 contributes to some (20q-) myeloproliferative neoplasms, especially polycythemia vera, by promoting erythroid differentiation.									
15334543	L3MBTL1	Underexpression	Myeloid Leukemia	However, given the known dosage effects of PcG proteins in regulating gene expression, reduced or absent L3MBTL expression may be relevant in some cases of myeloid leukemia.									
26678539	KMT2E	Underexpression	Breast Carcinoma	In the present study, we used quantitative PCR to investigate the expression profile of all five MLL genes [MLL (ALL-1), MLL2, MLL3, MLL4 and MLL5] in 7 breast cancer cell lines, 8 breast tumors and adjacent non-tumor tissues and in 12 normal tissues. We observed a diminished expression of all five genes in the breast cancer cell lines when compared to normal breast tissue.									
23259788	KMT2E	Mutation	Gastric Carcinoma; Colorectal Carcinoma	 We also analyzed MLL3 expression in GC and CRC tissues using immunohistochemistry. We found MLL, MLL2, MLL3 and MLL5 frameshift mutations in two (one GC and one CRC), three (one GC and two CRC), 17 (14 GC and three CRC) and six (four GC and two CRC) cancers, respectively.									
21670448	KMT2E	Mutation	Leukemia	MLL5 includes a SET domain and a single PHD finger, but lacks A-T hooks and methyltransferase homology domains that are found in MLL. The leukemia cell line RCV-ACV-A carries a heterozygous missense mutation within the PHD domain; however, no mutations within the MLL5 coding region were detected in primary leukemias.									
22959458	LMNB2	Overexpression	Ovarian Carcinoma	A panel of six biomarkers was overexpressed both in women with OC and in women with PCOS. These biomarkers include calreticulin, fibrinogen-γ, superoxide dismutase, vimentin, malate dehydrogenase, and lamin B2.									
9393599	LMNB2	Hyperphosphorylation	Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia	Although phosphorylation of lamin B2 in leukemic cells was reminiscent of resting cells, the majority of ALL and AML samples showed significantly higher and more altered lamin B2A phosphorylation compared to PBMC.									
27626165	KDM5C	Mutation 	Thyroid Gland Follicular Carcinoma	In addition, we found eleven potential cancer-related genes with mutations (EZH1, SPOP, NF1, TCF12, IGF2BP3, KMT2C, CNOT1, BRIP1, KDM5C, STAG2 and MAP4K3) that have not been reported in thyroid follicular tumors.									
27282397	KDM5C	Mutation 	Pineoblastoma	Genetic analysis of a pineoblastoma case identified somatic mutations of DICER1, ARID1A, and KDM5C genes.									
26858085	KDM5C	Overexpression	Gastric Carcinoma	In present study, we found that KDM5C was overexpressed in gastric cancer cell lines and gastric cancer tissues but not in normal gastric tissues.	miR-138	Regulation	We discovered that KDM5C is overexpressed in breast cancer cells, providing evidence that miR-138 regulates its expression.				p53	Negative regulation	Cells with overexpression of KDM5C exhibited greatly decreased p53 expression, whereas silencing of KDM5C expression dramatically increased p53 expression at both the messenger RNA and protein levels.
26551685	KDM5C	Inactivation	Renal Cell Carcinoma	For example, the histone demethylase JARID1C is frequently inactivated in patients with clear cell renal cell carcinoma (ccRCC)				H3K9; SUV39H1; HP1α; DDB1.	binding	Here, we determined that JARID1C binds broadly to chromatin domains characterized by the trimethylation of lysine 9 (H3K9me3), which is a histone mark enriched in heterochromatin. Moreover, we found that JARID1C localizes on heterochromatin, is required for heterochromatin replication, and forms a complex with established players of heterochromatin assembly, including SUV39H1 and HP1α, as well as with proteins not previously associated with heterochromatin assembly, such as the cullin 4 (CUL4) complex adaptor protein DDB1.			
26503415	KDM5C	Overexpression	Hepatocellular Carcinoma	In this study, we report that KDM5C is abundantly expressed in invasive human HCC cells.							BMP7	Negative regulation	Furthermore, ectopic expression of KDM5C in HCC cells promoted cell migration, invasion and epithelial-mesenchymal transition via the inactivation of BMP7.
26182878	KDM5C	Overexpression	Breast Carcinoma	In clinical breast cancer samples, we found that JARID1C expression was significantly upregulated in cancer lesions compared with paired normal breast tissues and its expression level is positively correlated with metastasis.							BRMS1	Negative regulation	Moreover, we also found that the expression of BRMS1 was modulated by JARID1C. Silencing of JARID1C dramatically increased BRMS1 expression both at mRNA and protein level. Mechanistically, we found JARID1C exerts its function through modulation of H3K4me3 at the BRMS1 gene promoter, which was associated with inactive BRMS1 transcription.
25873528	KDM5C	Mutation	Clear Cell Renal Cell Carcinoma	JARID1C and UTX, two histone H3 demethylases, were also found to harbor mutations in ccRCC, albeit at lower rates									
24029645	KDM5C	Mutation	Clear Cell Renal Cell Carcinoma	Mutation frequencies among clear cell RCCs were as follows: VHL, 53.2% (124 of 233); PBRM1, 28.8% (67 of 233); SETD2, 7.3% (17 of 233); KDM5C, 6.9% (16 of 233); and BAP1, 6.0% (14 of 233).									
23644518	KDM5C	Mutation	 Renal Cell Carcinomas	We further analyzed the exomes of 15 renal cell carcinomas and confirmed MLH1 haploinsufficiency. We observed a much higher rate of indel mutations in the affected cases and identified recurrent truncating indels in several cancer genes such as VHL, PBRM1, and JARID1C.									
21725364	KDM5C	Mutation	Clear Cell Renal Cell Carcinoma	Recently, a large-scale genomic sequencing study of ccRCC tumors revealed that enzymes that regulate histone H3 lysine 4 trimethylation (H3K4Me3), such as JARID1C/KDM5C/SMCX and MLL2, were mutated in ccRCC tumors, suggesting that H3K4Me3 might have an important role in regulating gene expression and tumorigenesis.							H3K4Me3	regulation	Recently, a large-scale genomic sequencing study of ccRCC tumors revealed that enzymes that regulate histone H3 lysine 4 trimethylation (H3K4Me3), such as JARID1C/KDM5C/SMCX and MLL2, were mutated in ccRCC tumors, suggesting that H3K4Me3 might have an important role in regulating gene expression and tumorigenesis.
20054297	KDM5C	mutation (loss of function)	Clear Cell Renal Cell Carcinoma	To determine further the genetics of ccRCC, we have sequenced 101 cases through 3,544 protein-coding genes. Here we report the identification of inactivating mutations in two genes encoding enzymes involved in histone modification-SETD2, a histone H3 lysine 36 methyltransferase, and JARID1C (also known as KDM5C), a histone H3 lysine 4 demethylase-as well as mutations in the histone H3 lysine 27 demethylase, UTX (KMD6A), that we recently reported.									
26747897	KDM5D	Underexpression	Metastatic Prostate Carcinoma	Our additional results demonstrated that JARID1D levels were highly downregulated in metastatic prostate tumors compared with normal prostate tissues and primary prostate tumors.				H3K4	demethylation	We found that JARID1D specifically repressed the invasion-associated genes MMP1, MMP2, MMP3, MMP7, and Slug by demethylating trimethyl H3K4, a gene-activating mark, at their promoters.	 MMP1; MMP2; MMP3; MMP7; Slug	Negative regulation	We found that JARID1D specifically repressed the invasion-associated genes MMP1, MMP2, MMP3, MMP7, and Slug by demethylating trimethyl H3K4, a gene-activating mark, at their promoters.
27533081	KDM6A	Mutation; copy number loss	Bladder Urothelial Carcinoma	We performed target capture sequencing on 128 genes in 40 non-metastatic UBC patients. UTX was the most frequently mutated gene (30%, 12/40). Of the genetic alterations identified, 75% were truncating mutations. UTY copy number loss was detected in 8 male patients (22.8%, 8/35). Of the 9 male patients with UTX mutations, 6 also had copy number loss (66.7%).									
27270441	KDM6A	Mutation	Bladder Carcinoma	Here, we sequenced the exomes of 25 bladder cancer (BCa) cell lines and compared mutations, copy number alterations (CNAs), gene expression and drug response to BCa patient profiles in The Cancer Genome Atlas (TCGA). Non-silent sequence alterations were confirmed in 76 cancer-associated genes, including mutations that likely activate oncogenes TERT and PIK3CA, and alter chromatin-associated proteins (MLL3, ARID1A, CHD6 and KDM6A) and established BCa genes (TP53, RB1, CDKN2A and TSC1).									
27247392	KDM6A	Deregulation	Hepatocellular Carcinoma	Validation of the top trunk drivers identified in the screen, including MET (MET proto-oncogene, receptor tyrosine kinase), GRB2-associated binding protein 1 (GAB1), HECT, UBA, and WWE domain containing 1 (HUWE1), lysine-specific demethylase 6A (KDM6A), and protein-tyrosine phosphatase, nonreceptor-type 12 (PTPN12), showed that deregulation of these genes activates an EMT program in human HCC cells that enhances tumor cell migration.									
27235425	KDM6A	Mutation	Plasma Cell Myeloma	In diagnostic myeloma patient samples, we identify significant mutations in genes encoding the histone 1 linker protein, previously identified in other B-cell malignancies. Our data suggest an adverse prognostic impact from the presence of lesions in genes encoding DNA methylation modifiers and the histone demethylase KDM6A/UTX The frequency of mutations in epigenetic modifiers appears to increase following treatment most notably in genes encoding histone methyltransferases and DNA methylation modifiers.									
26684240	KDM6A	Mutation	Gastroenteropancreatic Neuroendocrine Tumor	Here, we performed whole exome sequencing of 12 GEP-NETs from patients enrolled in a nonrandomized, open-labeled, single-center phase II study for pazopanib, and integrated our results with previously published results on pancreas (n = 12) and small intestine NETs (n = 50). The mean numbers of somatic mutations in each case varied widely from 20 to 4682. Among 12 GEP-NETs, eight showed mutations of more than one cancer-related gene, including TP53, CNBD1, RB1, APC, BCOR, BRAF, CTNNB1, EGFR, EP300, ERBB3, KDM6A, KRAS, MGA, MLL3, PTEN, RASA1, SMARCB1, SPEN, TBC1D12, and VHL.									
26341229	KDM6A	Mutation	Spinal Cord Ependymoma	Two causative genes have been identified in patients with Kabuki syndrome. Mutation of KMT2D (MLL2) was identified in 55-80% of patients, while 9-14% of KMT2D negative patients have mutation in KDM6A gene.									
26027790	KDM6A	Mutation	hematologic cancers	Perturbation of such functional crosstalk caused by genetic events observed in various hematologic cancers, such as inactivation of SNF5 and somatic mutation of UTX, confers PRC2 dependence, thus rendering an increased sensitivity to PRC2 inhibition.									
25873528	KDM6A	Mutation	Clear cell Renal Cell Carcinoma	JARID1C and UTX, two histone H3 demethylases, were also found to harbor mutations in ccRCC, albeit at lower rates.									
25512285	KDM6A	Overexpression	Clear cell Renal Cell Carcinoma	The mRNA level of UTX in cancer tissues(C) was 4.4 folds, higher than that of the adjacent normal tissues(N) [ 0.883 2±0.703 8 vs. 0.199 7±0.140 0, P<0.05]. The protein expression of UTX in cancer tissues was up-regulated, and the protein score of cancer tissues was 4 folds, change compared with adjacent normal tissues[12±4 vs. 3±3, P<0.05].									
25320243	KDM6A	Mutation	T-cell Acute Lymphoblastic Leukemia	Interestingly, UTX mutations were exclusively present in male T-ALL patients and allelic expression analysis revealed that UTX escapes X-inactivation in female T-ALL lymphoblasts and normal T cells.									
25275298	KDM6A	Mutation; copy number change	Head and Neck Squamous Cell Carcinoma	This analysis also revealed that most HNSCC cells harbor multiple mutations and CNVs in epigenetic modifiers (e.g., EP300, CREBP, MLL1, MLL2, MLL3, KDM6A, and KDM6B) that may contribute to HNSCC initiation and progression.									
25225064	KDM6A	Mutation; Underexpression	Bladder Carcinoma	BAP1 and KDM6A mutations significantly co-occurred in tumors. Somatic variants altering the TERT promoter were found in 69% of tumors but were not correlated with alterations in other bladder cancer genes. We examined the function of KDM6A, altered in 24% of tumors, and show depletion in human bladder cancer cells, enhanced in vitro proliferation, in vivo tumor growth, and cell migration.									
25225064	KDM6A	Inactivation	T-cell Acute Lymphoblastic Leukemia	By contrast, we found that UTX functions as a tumour suppressor and is frequently genetically inactivated in T-ALL									
24908143	KDM6A	Mutation	Soft Tissue Sarcoma	Additional frameshift mutations, deletion mutations, and single-nucleotide variants involving numerous genes, including RB1, NOTCH1, PIK3CA, PDGFRB, EPHA5, KDM6A, NF1, and FLT4 genes, were also identified. NGS is useful in identifying targetable mutations in soft tissue sarcomas that can serve as a rationale for inclusion of patients with advanced disease in ongoing clinical trials and allow for better risk stratification.									
24835989	KDM6A	Mutation	Bladder Carcinoma	Bladder cancer (or urothelial cell carcinoma [UCC]) is characterized by field disease (malignant alterations in surrounding mucosa) and frequent recurrences. Whole-genome, exome, and transcriptome sequencing of 38 tumors, including four metachronous tumor pairs and 20 superficial tumors, identified an APOBEC mutational signature in one-third. The ancestral clones contained Pik3ca/Kdm6a mutations and may reflect the field-disease mutations shared among later tumors.									
24662245	KDM6A	Mutation	Acute Lymphoblastic Leukemia	Epigenetic regulators have been proposed as modulators of chemoresistance, here, we sequence genes encoding epigenetic regulators in matched diagnosis-remission-relapse ALL samples. We find significant enrichment of mutations in epigenetic regulators at relapse with recurrent somatic mutations in SETD2, CREBBP, MSH6, KDM6A and MLL2, mutations in signalling factors are not enriched.									
24491801	KDM6A	Overexpression	Breast Carcinoma	Clinically, high levels of UTX or MLL4 were associated with poor prognosis in patients with breast cancer.				MLL4	Co-regulation	The majority of UTX-controlled genes, including a cohort of oncogenes and prometastatic genes, are coregulated by the H3K4 methyltransferase mixed lineage leukemia 4 (MLL4, also called ALR, KMT2D, and MLL2).			
24166983	KDM6A	Mutation	Clear cell Renal Cell Carcinoma	BAP1 (11%), PBRM1 (33%), SETD2 (16%), JARID1c (4%), and KDM6A (3%) mutations were identified.									
23534949	KDM6A	Mutation	Plasma Cell Myeloma	The analysis of MM genomes revealed also mutations in genes for histone methyltransferases (HMTases), histone demethylase (UTX) and serine/threonine protein kinase BRAF.							HOXA9	Positive regulation	Aberrant histone 3 lysine 27 trimethylation (H3K27me3) by mutant HMTases or UTX induces overexpression of the homeobox A9 (HOXA9) gene
23266085	KDM6A	Overexpression	Bladder Carcinoma	High expression of KDM3B and KDM5A is associated with a better prognosis (no recurrence after mastectomy p=0.005 and response to docetaxel p=0.005); conversely, KDM6A is overexpressed in BC patients with an unfavorable prognosis (mortality at 1 year, p=8.65E-7).									
23265383	KDM6A	Mutation	Prostate Carcinoma	Genes not previously reported to be significantly mutated in PCa, such as cell division cycle 27 homolog (Saccharomyces cerevisiae) (CDC27), myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), lysine (K)-specific demethylase 6A (KDM6A), and kinesin family member 5A (KIF5A) were identified.									
23057811	KDM6A	Overexpression	Renal Cell Carcinoma	This study demonstrated that UTX and JMJD3 were upregulated in cancer tissues, suggesting that they may be involved in the development of primary RCC.									
23033341	KDM6A	Mutation; copy number change	Lung Carcinoma	Overall, our data show that cell line models exhibit similar mutation spectra to human tumor samples. Smoker and never-smoker cancer samples exhibit distinguishable patterns of mutations. A number of epigenetic regulators, including KDM6A, ASH1L, SMARCA4, and ATAD2, are frequently altered by mutations or copy number changes.									
22832583	KDM6A	Mutation	medulloblastoma	Several recurrent mutations were identified, both in known medulloblastoma-related genes (CTNNB1, PTCH1, MLL2, SMARCA4) and in genes not previously linked to this tumour (DDX3X, CTDNEP1, KDM6A, TBR1), often in subgroup-specific patterns.									
22421440	KDM6A	Mutation	pancreatic adenocarcinoma 	Using two independent statistical methods to identify loci commonly mutated by SB in these tumors, we identified 681 loci that comprise 543 candidate cancer genes (CCGs); 75 of these CCGs, including Mll3 and Ptk2, have known mutations in human pancreatic cancer. We identified point mutations in human pancreatic patient samples for another 11 CCGs, including Acvr2a and Map2k4. Importantly, 10% of the CCGs are involved in chromatin remodeling, including Arid4b, Kdm6a, and Nsd3, and all SB tumors have at least one mutated gene involved in this process; 20 CCGs, including Ctnnd1, Fbxo11, and Vgll4, are also significantly associated with poor patient survival									
22289493	KDM6A	Mutation	Chronic myelomonocytic Leukemia	Novel somatic mutations of genes, including those associated with proliferation signaling (CBL, RAS, RUNX1, JAK2 (V617F)) and with modification of epigenetic status (TET2, ASXL1, UTX, EZH2) have been found.									
21828135	KDM6A	Mutation	Chronic myelomonocytic Leukemia	At least 1 mutation was found in 86% of all cases; novel UTX, DNMT3A, and EZH2 mutations were found in 8%, 10%, and 5.5% of patients, respectively.									
21822268	KDM6A	genetic aberration	Transitional cell carcinoma	Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC.									
20054297	KDM6A	Mutation	Clear cell Renal Cell Carcinoma	To determine further the genetics of ccRCC, we have sequenced 101 cases through 3,544 protein-coding genes. Here we report the identification of inactivating mutations in two genes encoding enzymes involved in histone modification-SETD2, a histone H3 lysine 36 methyltransferase, and JARID1C (also known as KDM5C), a histone H3 lysine 4 demethylase-as well as mutations in the histone H3 lysine 27 demethylase, UTX (KMD6A), that we recently reported.									
19912222	KDM6A	mutation (loss of function)	Plasma Cell Myeloma	Myeloma is linked to the overexpression of a histone methylatransferase (MMSET) and inactivating mutations of a histone demethylase (UTX), suggesting that the regulation of histone methylation is a potential therapeutic target.									
27449096	LMNB1	Underexpression	Gastric Carcinoma	Further expression characterization showed reduced lamin B1 in gastric cancer tissue and cancer cells									
24293108	LMNB1	Underexpression	Breast Carcinoma	The expression of LMNB1 declined with worsening clinical outcome (disease-free vs. mortalities - 0.0011 vs. 0.000; p = 0.0177).									
23857605	LMNB1	Overexpression	Pancreatic Carcinoma	Overexpression of lamin B1 was pronounced in human pancreatic cancer, and increased lamin B1 expression was directly associated with low-grade differentiation, increased incidence of distant metastasis, and poor prognosis of patients with pancreatic cancer.									
22903723	LMNB1	Overexpression	Hepatocellular Carcinoma	Capitalizing our established proteomic platform primarily based on two-dimensional polyacrylamide gel electrophoresis (2DE) and MALDI-TOF/TOF mass spectrometry, our groups have identified lamin B1 (LMNB1) and vimentin (VIM) as promising biomarkers for detection of early HCC. Protein levels of both biomarkers were significantly elevated in cancerous tissues when compared to the controls in disease-free and cirrhotic liver subjects.									
19522540	LMNB1	Overexpression	Hepatocellular Carcinoma	We successfully identified lamin B1 (LMNB1) that was significantly upregulated in HCC tumors and present in patients' plasma									
10517909	LMNB1	Underexpression	Colon Carcinoma; colon adenoma, Gastric Carcinoma	Lamin B1 expression was reduced in all colon cancers, 16/18 colonic adenomas, and 6/8 gastric cancers.									
27548814	KDM5A	Overexpression	Neuroendocrine Neoplasm	We measured RBP2 mRNA and protein levels in enteropancreatic NETs by measuring RBP2 in matched human normal and NET tissue samples. RBP2 was overexpressed relative to tissue-matched normal controls in 80% of the human tumors measured.				p21; p57	Negative correlation	The cell cycle inhibitors p21 and p57 decreased with RBP2 overexpression and increased upon its depletion, suggesting a regulatory role for RBP2 in cellular proliferation.			
27114462	KDM5A	Mutation	Acute megakaryoblastic Leukemia	To assess frequencies and outcome parameters of recurrent cytogenetic aberrations in AMKL, samples and clinical data of patients treated by the Associazione Italiana Ematologia Oncologia Pediatrica, Berlin-Frankfurt-Munster Study Group, Children's Oncology Group, Dutch Childhood Oncology Group, and the Saint Louis Hpital were collected, enabling us to screen 153 newly diagnosed pediatric AMKL cases for the aforementioned aberrations and to study their clinical characteristics and outcome. CBFA2T3/GLIS2 was identified in 16% of the cases; RBM15/MKL1, in 12%; NUP98/KDM5A and KMT2A rearrangements, in 9% each; and monosomy 7, in 6%.				CBFA2T3/GLIS2; RBM15/MKL1; KMT2A 	Mutually exclusive mutation	CBFA2T3/GLIS2 was identified in 16% of the cases; RBM15/MKL1, in 12%; NUP98/KDM5A and KMT2A rearrangements, in 9% each; and monosomy 7, in 6%. These aberrations were mutually exclusive			
26841866	KDM5A	Overexpression	primary breast cancer	Finally, by immunohistochemical staining of primary breast tissue microarrays we find that EMSY/KDM5A/SIN3B complex subunits are frequently overexpressed in primary breast cancer cases in a correlative manner.				EMSY; SIN3	Binding	Finally, by immunohistochemical staining of primary breast tissue microarrays we find that EMSY/KDM5A/SIN3B complex subunits are frequently overexpressed in primary breast cancer cases in a correlative manner.			
25575817	KDM5A	Underexpression	Chronic Myeloid Leukemia	In this study, we found that the histone H3 lysine 4 (H3K4) demethylase RBP2 (also called JARID1A and KDM5A) is underexpressed in CML-BP. The RBP2 histone demethylase stimulates leukemia cell differentiation and inhibits cell proliferation.							miR-21; PDCD4	Negative regulation; positive regulation	We identified miR-21 was directly downregulated by RBP2 and found that miR-21 downregulated PDCD4 expression in leukemia cells.  By binding to miR-21 promoter and by demethylating of trimethylated H3K4 at the miR-21 locus, RBP2 downregulated miR-21 expression. This in turn activated PDCD4.
24425785	KDM5A	Copy Number Gain	Head and Neck Squamous Cell Carcinoma	Amplification of eight genes (PIK3CA, EGFR, CCND2, KDM5A, ERBB2, PMS1, FGFR1, and WHSCIL1) and deletion of five genes (CDKN2A, SMAD4, NOTCH2, NRAS, and TRIM33) were found in both HNSCC cell lines and tumors.									
24200674	KDM5A	Overexpression	Prostatic Carcinoma	SMYD3, SUV39H2, PRMT6, KDM5A, and KDM6A were upregulated, whereas KMT2A-E (MLL1-5) and KDM4B were downregulated in PCa, compared with normal prostate tissues.									
23922798	KDM5A	Overexpression	Hepatocellular Carcinoma	We analyzed gene expression in 20 specimens each of human HCC and normal liver tissue by quantitative real-time PCR and immunohistochemistry. The expression of RBP2 was stronger in cancerous than non-cancerous tissues, but that of its binding microRNA, Homo sapiens miR-212 (hsa-miR-212), showed an opposite pattern	has-miR-212	Negative regulation	RBP2 is overexpressed in HCC and negatively regulated by hsa-miR-212.						
23722541	KDM5A	Overexpression	Lung Carcinoma	RBP2 was overexpressed in human lung cancer tissues where its depletion impaired cell proliferation, motility, migration, invasion, and metastasis.				p27	Binding	Mechanistic investigations established that RBP2 bound directly to the p27, cyclin D1, and ITGB1 promoters and that exogenous expression of cyclin D1, cyclin E1, or ITGB1 was sufficient to rescue proliferation or migration/invasion, respectively.	cyclin D1; cyclin E1; CDKN1B; ITGB1	Positive regulation; positive regulation; negative regulation; positive regulation	RBP2 upregulated expression of cyclins D1 and E1 while suppressing the expression of cyclin-dependent kinase inhibitor p27 (CDKN1B), each contributing to RBP2-mediated cell proliferation. Expression microarray analyses revealed that RBP2 promoted expression of integrin-β1 (ITGB1), which is implicated in lung cancer metastasis.
23531517	KDM5A	Mutation	Acute Myeloid Leukemia	In this study we screened 105 pediatric AMKL cases to analyze the frequency of NUP98/JARID1A and other recurrent genetic abnormalities. NUP98/JARID1A was identified in 11/105 patients (10.5%).				NUP98; HOXA/B	Fusion; correlation	Using split-signal fluorescence in situ hybridization, other NUP98-rearranged pediatric AML cases were identified, including several acute megakaryoblastic leukemia (AMKL) cases with a cytogenetically cryptic fusion of NUP98 to JARID1A (t(11;15)(p15;q35)). JARID1A NUP98/JARID1A cases were characterized by HOXA/B gene overexpression, which is a potential druggable pathway.			
22937203	KDM5A	Overexpression (Copy Number Gain)	Breast Carcinoma	In the present study, we found that the KDM5A gene was significantly amplified and over-expressed in various human tumors, including breast cancer.							CDK inhibitors	Negative regulation	Furthermore, knockdown of KDM5A gene expression altered H3K4 methylation and induced upregulation of CDK inhibitors as well as genes mediating apoptotic cell death.
16419055	KDM5A	Mutation	Leukemia	Using a NUP98-specific split-signal fluorescence in situ hybridization (FISH) probe combination, we analyzed 84 patients with acute myeloid leukemia (AML), acute lymphoblastic leukemia, or myelodysplastic syndrome with either normal karyotypes or 11p abnormalities to investigate whether there are unidentified 11p15 rearrangements. JARID1A, at 12p13, codes for retinoblastoma binding protein 2, a protein implicated in transcriptional regulation. This is the first report of JARID1A as a partner gene in leukemia.				NUP98	Fusion	JARID1A was identified as the fusion partner of NUP98 using 3' RACE, RT-PCR, and FISH. JARID1A, at 12p13, codes for retinoblastoma binding protein 2, a protein implicated in transcriptional regulation. This is the first report of JARID1A as a partner gene in leukemia.			
26980696	MBD1	Overexpression	Pancreatic Carcinoma	MBD1 (Methyl-CpG Binding Domain Protein 1) is highly expressed in pancreatic cancer.				c-myc	Collaboration	c-myc plays a key role in MBD1 mediated epigenetic silencing of KEAP1.	KEPA1	negative regulation	MBD1 can induce antioxidant response in pancreatic cancer through down-regulation of KEAP1.
23331011	MBD1	Overexpression	Pancreatic Carcinoma	However, whether and how MBD1 is involved in tumorigenesis, especially in pancreatic cancer (PC), is currently unknown. We found that MBD1 was significantly up-regulated in PC tissues compared with the surrounding normal tissues according to RT-PCR data.				Twist; SIRT1	Binding	Mechanistically, MBD1 is associated with Twist and NAD-dependent deacetylase sirtuin-1 (SIRT1), thereby forming the Twist-MBD1-SIRT1 complex on the CDH1 promoter, which resulted in reduced E-cadherin transcription activity and increased cell EMT ability.	E-cadherin	Negative regulation	Mechanistically, MBD1 is associated with Twist and NAD-dependent deacetylase sirtuin-1 (SIRT1), thereby forming the Twist-MBD1-SIRT1 complex on the CDH1 promoter, which resulted in reduced E-cadherin transcription activity and increased cell EMT ability.
18668384	MBD1	Polymorphism	Lung Carcinoma	Our results suggested that MBD1 polymorphisms might be involved in the development of lung cancer.									
16284366	MBD1	Polymorphism	Lung Carcinoma; Lung Adenocarcinoma	These results suggest that the MBD1 -634G>A, -501delT, and Pro(401)Ala polymorphisms and their haplotypes contribute to the genetic susceptibility for lung cancer and particularly for adenocarcinoma.									
14599962	MBD1	Hypermethylation	Pancreatic Carcinoma	MBD1, EDG1 and gene hypermethylation mechanism would play an important role in the pathogenesis of pancreatic carcinoma.									
12776203	MBD1	Polymorphism	Colon Carcinoma; Lung Carcinoma	We have confirmed by fluorescent in situ hybridization that MBD1 and MBD2 bracket the DCC locus giving a gene order of MBD1/CGBP-DCC 5'-DCC 3'-MBD2. Mutation analyses by single-stranded conformation polymorphism in colon and lung cancer cell lines and primary tumours revealed a small number of mutations, suggesting only a limited role of these genes in human tumorigenesis.									
12646234	MBD1	Underexpression	Prostate Carcinoma	We analyzed gene expression of MBD1, MBD2, MBD3, MBD4, and MeCP2 and protein expression of MBD1, MBD2, and MeCP2 in prostate cancer cell lines, benign prostate epithelium (BPH-1) cell line, 49 BPH tissues, and 46 prostate cancer tissues. We observed that, in BPH tissues and low-grade cancer tissues, MBD1 protein expression was very high and gradually decreased with increase of cancer grade.									
12101420	MBD1	Overexpression	Lung Carcinoma	When beta-actin was used as an internal control, the mRNA expression of three DNMTs (DNMT1, DNMT3A, and DNMT3B) and five MBPs (MBD1, MBD2, MBD3, MBD4, and MeCP2) was upregulated in SCLC, while only that of DNMT1, DNMT3B and MBD3 was upregulated in NSCLC, compared with normal lung tissues.									
26503472	MBD4	Mutation	Colorectal Neoplasm	We investigated MBD4 variants in a large series of hereditary/familial and sporadic CRC cases. Whereas MBD4 frameshifts were only detected in tumors, missense variants were found in both normal and tumor DNA.									
23027038	MBD4	Polymorphism	Cervical Carcinoma	We genotyped the MBD4 Glu346Lys polymorphism in 146 cervical cancer cases and 320 healthy female subjects using polymerase chain reaction-based restriction fragment length polymorphism method. The MBD4 codon 346 polymorphism may play a role in cervical cancer susceptibility in the Chinese population. Further larger case-control and functional studies are needed to validate these findings.									
19469655	MBD4	Polymorphism	Colon Carcinoma	However, the MBD4 codon 346 polymorphism was significantly associated with the risk of colorectal cancer (P=0.0315).									
19179424	MBD4	Mutation	medulloblastomas	The MSI target genes MBD4 (methyl-CpG binding domain protein 4) and MRE11 (meiotic recombination 11 homolog A) were mutated in two different tumors. No CTNNB1 or BRAF mutations were found. This study is the most comprehensive analysis of MSI in medulloblastomas to date.									
19127118	MBD4	Underexpression (hypermethylation)	Colon Carcinoma; Ovarian Carcinoma	The MED1 promoter region was sequenced following bisulfite treatment and sequence analysis identified a CpG island within the MED1 promoter which is frequently and preferentially methylated (> or =50%) in ovarian and colorectal cancer cell lines with low/reduced MED1 expression.									
18206535	MBD4	Mutation	Gastric Carcinoma	 We aimed to investigate which MMR defects are present in SGC. Twenty-nine MSI-H SGC investigated previously for MLH1 promoter hypermethylation were screened for somatic mutations in MLH1, MSH2, MSH6, MLH3, and MBD4 by denaturing gradient gel electrophoresis and sequencing. Five truncating mutations (three in MSH6, one in MLH3, and one in MBD4) and one missense mutation (MLH1) were identified									
18162445	MBD4	Mutation	Colon Carcinoma	A strong candidate identified through this approach was MBD4 as it showed a homozygous truncating mutation associated with substantial loss of the transcript in HCA7 not seen in the other lines.									
17384679	MBD4	Mutation	Colorectal Neoplasm	We here screened 39 MSI colorectal tumours for the presence of mutations in 25 genes involved in DNA damage signalling and repair pathways. Using a maximum likelihood statistical method, these genes were divided into two different groups that differed significantly in their mutation frequencies, and likely represent mutations that do or do not provide selective pressure during MSI tumour progression. Interestingly, the so-called real-target mutational events were found to be distributed among genes involved in different functional pathways of the DNA metabolism, for example, DNA damage signalling (DNA-PKcs, ATR), double-strand break (DSB) repair (DNA-PKcs, RAD50), mismatch repair (MSH3, MSH6, MBD4) and replication (POLD3).									
17285135	MBD4	Mutation	Colorectal Carcinoma	We now show that recombinant truncated MBD4 (MBD4(tru)) inhibits glycosylase activities of normal MBD4 or Uracil DNA glycosylase in cell-free assays as a dominant negative effect. Furthermore, overexpression of MBD4(tru) in Big Blue (lacI)-transfected, MSI human colorectal carcinoma cells doubled mutation frequency, indicating that the modest dominant negative effect on DNA repair can occur in living cells in short-term experiments.									
16803845	MBD4	Mutation	Lung Carcinoma	The distribution of the MBD4 Glu346Lys genotypes was not significantly different between the overall lung cancer cases and the controls. However, when the cases were categorized by tumor histology, the Lys346Lys genotype was associated with a significantly decreased risk of adenocarcinoma (AC) as compared with the Glu346Glu genotype [adjusted odds ratio (OR) = 0.50, 95% confidence interval (CI) = 0.26-0.97, P = 0.04]. On the stratification analysis, the protective effect of the Lys346Lys genotype against AC was statistically significant in older individuals and heavier smokers (adjusted OR = 0.08, 95% CI = 0.01-0.64, P = 0.02; and adjusted OR = 0.09, 95% CI = 0.01-0.72, P = 0.02, respectively).									
16421660	MBD4	Mutation	Hereditary Nonpolyposis Colorectal Cancer	Thirty-one colorectal cancers from patients with hereditary nonpolyposis colorectal cancer at different clinicopathologic stages were analyzed for frameshift mutation in 18 genes. Mutations of the hMSH3, TCF4, CASP5, RIZ, RAD50, and MBD4 genes were comparatively frequent (>35 percent) in all stages.									
16288216	MBD4	Mutation	upper urinary tract urothelial cell carcinoma	Mutations in genes involved in key cellular pathways (ATR, DNA-PKcs, MBD4, TCF-4, MSH6, and BLM) were further detected.									
15205355	MBD4	SNP	Esophageal Squamous Cell Carcinoma	We identified 129 SNPs in the eight BER genes, including 18 SNPs that cause amino acid changes. In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC.									
12430186	MBD4	Mutation	Gastric Carcinoma; Colon Carcinoma	MBD4/MED1 is mutated in gastric cancers as frequently as in colon cancers; these mutations reduce the accuracy of DNA repair, and may lead to cancer progression.									
11526511	MBD4	Mutation	Hereditary Nonpolyposis Colorectal Cancer	We analysed alterations at repeated sequences of coding regions, as well as those of 5' upstream regions, in 29 MSI-High colorectal tumors from patients with hereditary nonpolyposis colorectal cancer (HNPCC) and Turcot syndrome. Alteration at repeated sequences in the coding regions were 72% at TGFbetaRII(A)10, 24% at IGFIIR(G)8, 45% at BAX(G)8, 55% at E2F4(CAG)13, 66% at caspase-5 (A)10, 31% at MBD4(A)10, 55% at hMSH3(A)8 and 34% at hMSH6(C)8.									
11230735	MBD4	Underexpression	Hepatocellular Carcinoma	Reduced expression of DNA repair protein, MBD4, was significantly correlated with poorer tumor differentiation and involvement of portal vein. Slightly reduced expression of MBD2 was detected in HCCs, and the expression of MeCP2 was particularly reduced in HCCs with portal vein involvement. These data suggest that overexpression of DNMT1 and DNMT3a, DNA hypermethylation on CpG islands, and DNA hypomethylation on pericentromeric satellite regions are early events during hepatocarcinogenesis, and that reduced expression of MBD4 may play a role in malignant progression of HCC.									
11104560	MBD4	Mutation	Colon Carcinoma	In microsatellite unstable tumours MBD4 can itself be mutated at an exonic polynucleotide tract. By analysing DNA from microdissected tumour samples we have found that both frequency and pattern of mutation are more significant than originally reported.									
10637515	MBD4	Mutation	Colon Carcinoma	We describe here frameshift mutations affecting the gene for the methyl-CpG binding thymine glycosylase, MBD4, in over 40% of microsatellite unstable sporadic colon cancers.									
27651311	KDM6B	Overexpression	Hepatocellular Carcinoma	Expression levels of JMJD3 in clinical specimens of HCC correlated inversely with patient survival.							SLUG	Positive regulation	Mechanistically, JMJD3 modulated H3K27me3 in the SLUG gene promoter, a histone mark associated with active SLUG transcription. SLUG silencing blocked JMJD3-induced EMT, stemness, and metastasis. Furthermore, SLUG expression in hepatocellular carcinoma clinical specimens correlated positively with JMJD3 expression.
26261509	KDM6B	Overexpression	Clear cell Renal Cell Carcinoma	Here, we reported KDM6B has high expression level in ccRCC and is positively correlated with poor ccRCC prognosis.							SLUG	Positive regulation	ChIP assays revealed that KDM6B stimulated SLUG expression by demethylate histone H3K27me3.
25652587	KDM6B	Overexpression	Glioma	Querying patient expression profile databases confirmed JMJD3 overexpression in high-grade glioma.							SASP-assoicated genes; SA-β-gal activity	Positive regulation	Overexpressing wild-type JMJD3 (JMJD3wt) activated SASP-associated genes, enhanced SA-β-gal activity, and induced nuclear blebbing.
23538751	KDM6B	Overexpression	myelodysplastic syndrome	We then analyzed expression of histone demethylases and observed significant overexpression of the JmjC-domain histone demethylase JMJD3 (KDM6b) in MDS CD34+ cells.							NF-κB	Positive regulation	Furthermore, we demonstrate that JMJD3 has a positive effect on transcription of multiple CHIP-Seq identified genes involved in NF-κB activation
23508829	KDM6B	Mutation	lymphoblastic Leukemia	Whole-exome- and whole-genome-sequencing of MHH-CALL-2 revealed homozygous non-synonymous coding mutations predicted to be deleterious for the protein function of 63 genes, among them known cancer-associated genes, such as FANCA, NF1, TCF7L2, CARD11, EP400, histone demethylases, and transferases (KDM6B, KDM1A, PRDM11).									
23236496	KDM6B	Overexpression	Breast Carcinoma	Consistently, our analysis of the Oncomine database found that KDM6B expression was significantly increased in invasive breast carcinoma compared with normal breast tissues.	TGF-β	Positive regulation	KDM6B was induced by TGF-β, and the knockdown of KDM6B inhibited EMT induced by TGF-β.				SNAI1	Positive regulation	Chromatin immunoprecipitation (ChIP) assays revealed that KDM6B promoted SNAI1 expression by removing histone H3 lysine trimethylation marks
23057811	KDM6B	Overexpression	Renal Cell Carcinoma	This study demonstrated that UTX and JMJD3 were upregulated in cancer tissues, suggesting that they may be involved in the development of primary RCC.									
21242977	KDM6B	Overexpression	Hodgkin's Lymphoma	KDM6B is over-expressed in primary HL and induced by the EBV oncogene, latent membrane protein (LMP1) in GC B cells, the presumptive progenitors of HL.									
17923864	KDM6B	Overexpression	Prostate Carcinoma	In addition, we found that JMJD3 is upregulated in prostate cancer, and its expression is higher in metastatic prostate cancer.									
27738314	UHRF2	Underexpression	Leukemia	In contrast, UHRF2 immunostaining in human cancer tissues revealed widespread reduction or abnormal cytoplasmic localization which correlated with a higher Ki-67 and reduced 5hmC. UHRF2 expression is reduced in some leukemia cell lines, this correlates with promoter hypermethylation, and similar UHRF2 methylation profiles are seen in primary human leukemia samples. Thus, UHRF2 and 5hmC are widely present in differentiated human tissues, and UHRF2 protein is poorly expressed or mislocalized in diverse human cancers.				UHRF2	Negative correlation	In contrast, UHRF2 immunostaining in human cancer tissues revealed widespread reduction or abnormal cytoplasmic localization which correlated with a higher Ki-67 and reduced 5hmC.			
24573556	UHRF2	Overexpression	Colon Carcinoma	In the present study, we investigated the expression of ubiquitin-like with PHD and ring finger domains 2 (UHRF2) in colon cancer and adjacent normal tissues and estimated the clinicopathological significance and predictive value of UHRF2 expression in colon cancer. Using quantitative real-time PCR, tissue microarray (TMA), western blot analysis and immunohistochemical staining, we evaluated UHRF2 mRNA and protein levels in tumor tissues and paired adjacent normal epithelium. We found that UHRF2 was upregulated at both the transcriptional and translational levels in tumor tissues.									
23244124	UHRF2	Underexpression	malignant Glioma	The expression of UHRF2 mRNA was significantly lower in the grade III and grade IV groups compared with the noncancerous brain tissue group, whereas its expression was high in A172, U251, and U373 glioma cell lines.									
21666724	UHRF2	Overexpression (Copy Number Gain)	Breast Carcinoma	Among these, four genes (GASC1 UHRF2, KIAA1432 and C9orf123) are overexpressed only in the context of gene amplification while two genes (ERMP1 and IL33) are overexpressed independent of the copy number increase.							p16; p21; p27	negative regulation	Furthermore, we demonstrated that UHRF2 has the ability to suppress the expression of key cell-cycle inhibitors, such as p16(INK4a), p21(Waf1/Cip1) and p27(Kip1).
26072331	KAT7	Underexpression	Acute Myeloid Leukemia	In the current study, we identified MYST2, a core histone acetyltransferase, to be suppressed in blast cells from AML patients compared with nonmalignant hematopoietic progenitor cells.									
22101407	KAT7	Underexpression	Breast Carcinoma	Reduced amounts of H4K16ac and H4K20me3 correlated with lower levels of MYST2 and SUV420H2 in mesenchymal cells and, along with reduced amounts of histone H3 lysine 9 acetylation (H3K9ac), were found to distinguish epithelial from mesenchymal cells.									
21040551	KAT7	Overexpression	Breast Carcinoma	HBO1 was highly expressed in breast cancer tissues and significantly correlated with estrogen receptor α (ERα) (p<0.001) and progestational hormone (PR) (p=0.002).	E2; ERα	Positive regulation	HBO1 protein level also correlated positively with histology grade in ERα positive tumors (p=0.016) rather than ERα negative tumors. 17β-estradiol (E2) could upregulate HBO1 gene expression which was significantly inhibited by ICI 182,780 or ERα RNAi. E2-increased HBO1 protein expression was significantly suppressed by treatment with inhibitor of MEK1/2 (U0126) in T47 D and MCF-7 cells. HBO1 was an important downstream molecule of ERα, and ERK1/2 signaling pathway may involved in the expression of HBO1 increased by E2.						
19393168	KAT7	Overexpression	Testicular carcinoma; Ovarian Carcinoma; Breast Carcinoma; Gastric Carcinoma; Bladder Carcinoma	Immunohistochemistry for Hbo1 in 11 primary human tumor types revealed strong Hbo1 protein expression in carcinomas of the testis, ovary, breast, stomach/esophagus, and bladder.									
19372580	KAT7	copy number change	Breast Carcinoma	We set out to characterize the genetic alterations observed in different breast cancer subtypes and to identify specific candidate genes and pathways associated with subtype biology. We identified and validated seven regions of copy number alteration associated with different subtypes, and used integrative bioinformatics analysis to identify candidate oncogenes and tumor suppressors, including ERBB2, GRB7, MYST2, PPM1D, CCND1, HDAC2, FOXA1, and RASA1.									
27742014	KDM4C	Overexpression	Esophageal Squamous Cell Carcinoma	Our studies investigating the existence of tumor-initiating cell (TIC) populations in human esophageal squamous cell carcinoma (ESCC) had identified a subpopulation of cells isolated from ESCC patient-derived tumor specimens marked by an ALDHbri+ phenotype bear stem cell-like features. Importantly, KDM4C, a histone demethylase was enhanced in ALDHbri+subpopulation, suggesting that strategies interfering with KDM4C may be able to target these putative TICs.				SOX2; ALDH1	correlation	Such staining pattern of intracellular KDM4C appeared to overlap with the expression of SOX2 and ALDH1.			
26248577	KDM4C	Overexpression	Osteosarcoma	JMJD2B and JMJD2C were up-regulated in osteosarcoma tissues when compared to paired adjacent non-tumor tissues.							FGF2	Positive regulation	Elevated levels of FGF2 promoted the proliferation, migration, and invasion of osteosarcoma cell, while FGF2 was up-regulated by JMJD2B or JMJD2C.
24952432	KDM4C	Polymorphism	Breast Carcinoma	Importantly, we determined that D396N polymorphism is significantly associated with the prognosis of human breast cancer.							γ-H2AX;  caspase-3	Negative regulation; regulation	We also show that knockdown of JMJD2C expression results in up-regulation of basal γ-H2AX. We propose that D396N polymorphism of JMJD2C affects the prognosis of human breast cancer via altering the cleavage by caspase-3 and the ability of DSB repair which may contribute to therapy resistance.
24952432	KDM4C	Overexpression	Colon Carcinoma	We demonstrate that the histone demethylases JMJD2A, JMJD2B and JMJD2C are overexpressed in colon cancer cell lines, whereas another related protein, JMJD2D, is not.				β-catenin	Binding	Moreover, we show that JMJD2C (also called KDM4C) forms complexes with β-catenin, an oncoprotein whose overexpression is crucial for the development of most colonic tumors.	FRA1; cyclin D1; BCL2	Regulation	. Further, JMJD2C was required for efficient expression of the growth stimulatory proteins FRA1 and cyclin D1 as well as the survival factor BCL2.
24418035	KDM4C	Overexpression	Gastric Carcinoma	The positive expression rates of JMJD2C and HIF-1α in GC (69.1% (76/110) and 73.6% (81/110) ) were significantly higher than those in normal tissues (both 0, both P < 0.05).				MJD2C	Positive correlation	MJD2C expression was positively correlated with HIF-1α expression (r = 0.219, P < 0.05) .			
24371038	KDM4C	Overexpression	Esophageal Squamous Cell Carcinoma	Strong nuclear staining for GASC1 was observed in a subset of ESCC samples. The nuclear expression of GASC1 was significantly associated with lymph node metastasis (P=0.030) and tumor-node metastasis stages (P=0.013). Kaplan-Meier survival analysis showed a tendency that high expression of GASC1 in the nucleus was associated with poor survival of ESCC patients, with a 5-year survival rate of 26.5%, as compared to 43.7% for patients with GASC1-negative/low expression									
23698634	KDM4C	Overexpression	Colorectal Carcinoma	The expression of KDM4C gene was increased in spheres from colorectal cancer (CRC) cells and the knockdown (KD) of KDM4C eliminated colonosphere formation.				β-Catenin	Binding	β-Catenin bound to the KDM4C promoter, suggesting that KDM4C is involved in the sphere-forming ability downstream of β-catenin in CRC cells.	JAG1	Positive regulation	KDM4C KD decreased the expression of JAG1 gene, and the downregulation of JAG1 gene recapitulated the impaired colonosphere formation.
23644528	KDM4C	Overexpression	Breast neoplasm; colorectal neoplasm; lung neoplasm; protate neoplasm	Various studies have shown that KDM4A/JMJD2A, KDM4B/JMJD2B, and/or KDM4C/JMJD2C are overexpressed in breast, colorectal, lung, prostate, and other tumors and are required for efficient cancer cell growth.									
23148692	KDM4C	Loss of Expression	Breast Carcinoma	In our material, 56% of the cases were GASC1 negative and 44% positive in IHC staining. Women with GASC1 negative tumors had two years shorter breast cancer specific survival and time to relapse than the women with GASC1 positive tumors (p=0.017 and p=0.034 respectively).									
21666724	KDM4C	Overexpression (Copy Number Gain)	Breast Carcinoma	In the current study, we aimed to comprehensively characterize the genes in the 9p24 amplicon in human breast cancer. Based on statistical analysis of copy number increase and overexpression, the 9p24 amplicon contains six candidate oncogenes. Among these, four genes (GASC1 UHRF2, KIAA1432 and C9orf123) are overexpressed only in the context of gene amplification while two genes (ERMP1 and IL33) are overexpressed independent of the copy number increase.									
20082691	KDM4C	Mutation	Chronic Myeloid Leukemia	Here we report multiple genome aberrations in a collection of 78 CML and 14 control samples by oligonucleotide array comparative genomic hybridization. We found a unique signature of genome deletions within the immunoglobulin heavy chain (IGH) and T cell receptor regions (TCR), frequently accompanied by concomitant loss of sequences within the short arm regions of chromosomes 7 and 9, including IKZF1, HOXA7, CDKN2A/2B, MLLT3, IFNA/B, RNF38, PAX5, JMJD2C and PDCD1LG2 genes.									
19784073	KDM4C	Copy Number Gain	Breast Carcinoma	In this study, we identified GASC1 as one of the amplified genes for the 9p23-24 region in breast cancer, particularly in basal-like subtypes.									
19339270	KDM4C	SNP	Oral cavity carsinoma; pharynx carcinoma; larynx carsinoma; esophagus carsinoma	Variants in two SNPs of GASC1 were found to be strongly associated with increased UADT cancer risk									
18068534	KDM4C	Copy Number Gain	Polycythemia Vera	 We report the case of a 54-year-old man whose disease was classified as an acute myeloid transformation of PV.  Complementary FISH analysis established amplification of the 9p22 approximately p24.3 region including several known genes: MLLT3 (alias AF9), JMJD2C (alias GASC1), JAK2, and SMARCA2 (alias BRM). JAK2(V617F) mutation status was quantitatively assessed by allele-specific quantitative polymerase chain reaction.									
16400626	KDM4C	Copy Number Gain	Desmoplastic medulloblastoma	Further analysis of the 9p and 17q22-q24 amplicons by array-based CGH (matrix-CGH) and candidate gene analyses revealed amplification of JMJD2C at 9p24 in one DMB and amplification of RPS6KB1, APPBP2, PPM1D and BCAS3 from 17q23 in three DMBs.									
15805246	KDM4C	Copy Number Gain	Esophageal Squamous Cell Carcinoma	Many of these genes are involved in various cancers, including GASC1, shown previously to be amplified in ESCCs, and EPHB1 and PIK3C3.									
11346465	KDM4C	Copy Number Gain	Esophageal Squamous Cell Carcinoma	Since different regions within the same chromosome arm are often involved in amplification in a syntenic or non-syntenic manner, we characterized the amplicon at 9p23 - 24 in 35 ESC cell lines (29 KYSE series and 6 YES series), and examined possible involvement of non-syntenic amplifications at 9p23 - 24 in 32 primary ESCs. Our results clearly indicated that two target regions for DNA amplification exist at 9p23 - 24; the major amplicon contains GASC1, and the minor one harbors a transcription factor, NFIB, centromeric to the GASC1 locus.									
10987278	KDM4C	Overexpression (Copy Number Gain)	Esophageal Carcinoma	We then screened target genes/transcripts present within this amplicon by Northern blotting. With this strategy, we successfully cloned a novel gene, designated gene amplified in squamous cell carcinoma 1 (GASC1), that was amplified and overexpressed in several ESC cell lines.									
27472901	KDM3A	Underexpression	Breast Carcinoma	Finally, we find defective KDM3A expression in human breast cancer cell lines and tumors.							BNIP3; BNIP3L	Positive regulation	We find that KDM3A promotes anoikis through transcriptional activation of BNIP3 and BNIP3L, which encode pro-apoptotic proteins.
27034728	KDM3A	Overexpression	Breast Carcinoma	A breast cancer transformation model was established via stably expressing three oncogenes in primary breast epithelial cells. Chromatin immunoprecipitation followed by the next-generation sequencing of histone methylations was performed to determine epigenetic events during transformation. KDM3A/JMJD1A, a demethylase for H3K9me1 and me2, gradually increases during cancer transformation and is elevated in patient tissues.							MYC; PAX3	Regulation	Genome-wide ChIP-seq analysis reveals that the boundaries of decreased H3K9me2 large organized chromatin K9 modifications (LOCKs) are enriched with cancer-related genes, such as MYC and PAX3. Further studies show that KDM3A/JMJD1A directly binds to these oncogenes and regulates their transcription by removing H3K9me2 mark.
26945572	KDM3A	Overexpression	Non-Small Cell Lung Carcinoma	In the present study, JMJD1A was frequently upregulated in NSCLC compared with para-carcinoma tissues.							EZH2; let-7c	Positive regulation; negative regulation	Further experiments demonstrated that JMJD1A knockdown could decrease the expression of EZH2, which has been shown to play a crucial role in the carcinogenesis of NSCLC and, in turn, increase the expression of anti-tumor microRNA let-7c.
26617828	KDM3A	Overexpression	Gastric Carcinoma	JMJD1A was found to be upregulated in gastric cancer tissues and cell lines.							MAPK pathway; MALAT1	Positive regulation	In addition, in vitro experiment revealed that knockdown of JMJD1A expression inhibited the gastric cancer cell proliferation, and further study suggested that JMJD1A knockdown suppressed MAPK pathway via transcriptional downregulation the expression of long noncoding RNA MALAT1.
25189356	KDM3A	Mutation	Prostate carsinoma	From this genome-wide approach, mutations were found in a series of genes with prostate cancer relevance, including AR, NCOR1, KDM3A, KDM4A, CHD1, SETD5, SETD7, INPP4B, RASGRP3, RASA1, TP53BP1, and CDH1, and a novel SND1:BRAF gene fusion.									
25071150	KDM3A	Underexpression	seminoma; yolk sac tumor; embryonal carcinoma	We reveal a striking downregulation of the hypoxia-inducible histone H3 lysine 9 (H3K9) demethylase JMJD1A as a hallmark of clinical human germ cell-derived tumors, such as seminomas, yolk sac tumors, and embryonal carcinomas.				G9a	Collaboration	Finally, Jmjd1a and G9a drive mutually opposing expression of the antiangiogenic factor genes Robo4, Igfbp4, Notch4, and Tfpi accompanied by changes in H3K9 methylation status.	Robo4; Igfbp4; Notch4; Tfpi	Regulation	Finally, Jmjd1a and G9a drive mutually opposing expression of the antiangiogenic factor genes Robo4, Igfbp4, Notch4, and Tfpi accompanied by changes in H3K9 methylation status.
24742640	KDM3A	Overexpression	Neuroblastoma	Here we demonstrated that N-Myc up-regulated the expression of JMJD1A in N-Myc oncogene-amplified human neuroblastoma cells by directly binding to the JMJD1A gene promoter.	MALAT1	Positive regulation	Affymetrix microarray studies revealed that the gene second most significantly up-regulated by JMJD1A was MALAT1.						
24362521	KDM3A	Overexpression	Ewing Sarcoma	We show that KDM3A is overexpressed in Ewing Sarcoma, and that its depletion inhibits clonogenic and anchorage-independent growth in multiple patient-derived cell lines, and tumorigenesis in a xenograft model.	miR-22	Negative regulation	Here we show that miR-22, an EWS/Fli1-repressed miR, is inhibitory to Ewing Sarcoma clonogenic and anchorage-independent cell growth, even at modest overexpression levels. Our studies further identify the H3K9me1/2 histone demethylase KDM3A (JMJD1A/JHDM2A) as a new miR-22-regulated gene. We show that KDM3A is overexpressed in Ewing Sarcoma, and that its depletion inhibits clonogenic and anchorage-independent growth in multiple patient-derived cell lines, and tumorigenesis in a xenograft model.						
23884959	KDM3A	Overexpression	Prostate Carcinoma	This study showed that pathological hypoxia (<0.5% O2) increased the expression of androgen receptor (AR) target genes such as prostate-specific antigen (PSA) and kallikrein-related peptidase 2 in LNCaP human prostate cancer cells by modifying the quantity and activity of related Jumonji C domain-containing histone demethylases (JMJDs). Furthermore, hypoxia increased the expression of JMJD1A. Hypoxia and androgen additively increased the recruitment of JMJD1A and p300 on the enhancer region of PSA through interaction with the hypoxia-inducible factor-1α and AR, both of which bind the PSA enhancer.				AR; hypoxia-inducible factor-1α	interaction	Furthermore, hypoxia increased the expression of JMJD1A. Hypoxia and androgen additively increased the recruitment of JMJD1A and p300 on the enhancer region of PSA through interaction with the hypoxia-inducible factor-1α and AR, both of which bind the PSA enhancer.			
22120715	KDM3A	Overexpression	Prostate Carcinoma	Our results show that the KDMs JARID1B, PHF8, KDM3A, KDM3B and KDM4A were highly expressed in clinical PrCa samples.									
22020899	KDM3A	Overexpression	Bladder Carcinoma; Lung Carcinoma	Expression levels of KDM3A were significantly elevated in human bladder carcinomas compared with nonneoplastic bladder tissues (p < 0.0001), when assessed by real-time PCR. We confirmed that some other cancers including lung cancer also overexpressed KDM3A, using cDNA microarray analysis.							HOXA1	Positive regulation	Importantly, we found that KDM3A activates transcription of the HOXA1 gene through demethylating histone H3 at lysine 9 di-methylation by binding to its promoter region.
21607773	KDM3A	Overexpression	Hepatocellular Carcinoma	We examined Jumonji domain containing 1A expression in 110 hepatocellular carcinoma samples with quantitative real-time polymerase chain reaction and immunohistochemistry. The level of Jumonji domain containing 1A in cancer tissues was higher than in normal tissues (P < 0.0001). Protein expression was significantly related to gene expression (P < 0.0001).									
21541331	KDM3A	Underexpression	Nasopharyngeal Carcinoma	Taken together, up-regulation of miR-155 in NPC is partly driven by LMP1 and LMP2A, and results in downregulation of JMJD1A, which is associated with N stage and poor prognosis of NPC patients.	miR-155	Negative regulation	Taken together, up-regulation of miR-155 in NPC is partly driven by LMP1 and LMP2A, and results in downregulation of JMJD1A, which is associated with N stage and poor prognosis of NPC patients.						
21275466	KDM3A	Overexpression	Renal Cell Carcinoma	The expression of JMJD1A was determined in 10 kidney cancer tissue and adjacent tissue by quantitative polymerase chain reaction, western blotting and immunohistochemistry. The expression of JMJD1A was higher in cancer tissue than adjacent tissue, and in hypoxic environment than normal environment.									
18984585	KDM3A	Overexpression	Renal Cell Carcinoma	Furthermore, we find increased expression of JMJD1A and JMJD2B in renal cancer cells that have lost the von Hippel Lindau tumor suppressor protein VHL and therefore display a deregulated expression of hypoxia-inducible factor.	HIF-1alpha	Positive regulation	Here we show that the hypoxia-inducible factor HIF-1alpha binds to specific recognition sites in the genes encoding the jumonji family histone demethylases JMJD1A and JMJD2B and induces their expression.						
26863915	LMNA	Mutation	paediatric haemangiopericytoma-like sarcoma 	Following detection of a LMNA-NTRK1 gene fusion in an index case of paediatric haemangiopericytoma-like sarcoma by combined whole-genome and RNA sequencing, we identified three additional sarcomas harbouring NTRK1 gene fusions, termed 'spindle cell sarcoma, NOS with myo/haemangiopericytic growth pattern'.				NTRK1	Fusion	Following detection of a LMNA-NTRK1 gene fusion in an index case of paediatric haemangiopericytoma-like sarcoma by combined whole-genome and RNA sequencing, we identified three additional sarcomas harbouring NTRK1 gene fusions, termed 'spindle cell sarcoma, NOS with myo/haemangiopericytic growth pattern'.			
26716414	LMNA	Mutation	Colon Carcinoma	Here we identified recurrent LMNA-NTRK1 and TPM3-NTRK1 fusions in Korean patients with colon cancer (3 out of 147, 2%) through next-generation RNA sequencing (RNA-seq).				NTRK1	Fusion	Here we identified recurrent LMNA-NTRK1 and TPM3-NTRK1 fusions in Korean patients with colon cancer (3 out of 147, 2%) through next-generation RNA sequencing (RNA-seq).			
26563355	LMNA	Mutation	Colon Carcinoma	Molecular characterization unveiled a novel LMNA-NTRK1 rearrangement within chromosome 1 with oncogenic potential, and the patient was treated with the pan-TRK inhibitor entrectinib, achieving partial response with decrease in hepatic target lesions from 6.8 and 8.2cm in longest diameter to 4.7 and 4.3cm, respectively.				NTRK1	Fusion	Molecular characterization unveiled a novel LMNA-NTRK1 rearrangement within chromosome 1 with oncogenic potential, and the patient was treated with the pan-TRK inhibitor entrectinib, achieving partial response with decrease in hepatic target lesions from 6.8 and 8.2cm in longest diameter to 4.7 and 4.3cm, respectively.			
26546295	LMNA	Mutation	Colorectal Carcinoma	A patient with metastatic colorectal cancer harboring an LMNA-NTRK1 rearrangement displayed a remarkable response to treatment with entrectinib, which was followed by the emergence of resistance.				NTRK1	Fusion	A patient with metastatic colorectal cancer harboring an LMNA-NTRK1 rearrangement displayed a remarkable response to treatment with entrectinib, which was followed by the emergence of resistance.			
26537870	LMNA	Underexpression; Loss of Expression	Cervical Carcinoma	Normal lamin A/C expression (group A) was observed in 39% of the CUS, weak lamin A/C expression (group B) was observed in 28% of the CUS and no lamin A/C expression (group C) was observed in 33% of the CUS tested.									
26469707	LMNA	Underexpression	Prostate Carcinoma	Reduced amounts of lamin A/C and B2 increase risk for lymph node metastasis and disease specific death possibly through increased nuclear deformability while high expression of lamin B1 predicts disease recurrence.									
26439802	LMNA	Underexpression	human Neuroblastoma	We also demonstrates that the development of TICs is due to an increased expression of MYCN gene and that in neuroblastoma exists an inverse relationship between LMNA and MYCN expression.				MYCN	Negative correlation	We also demonstrates that the development of TICs is due to an increased expression of MYCN gene and that in neuroblastoma exists an inverse relationship between LMNA and MYCN expression.			
26254781	LMNA	Overexpression	papillary carcinoma; meduallary carcinoma	In papillary carcinomas (PCs), the nuclear proteins most frequently expressed at high levels were emerin (82 % positive), lamin A/C (64 %), and LAP2 (82 %). In all medullary carcinomas (MCs), intermediate to high levels of expression of lamin A/C and LAP2 were found.									
26216294	LMNA	Mutation	soft-tissue sarcoma metastatic to the lung	The tumor of a 41-year-old woman with soft-tissue sarcoma metastatic to the lung was found to harbor an LMNA-NTRK1 gene fusion encoding a functional LMNA-TRKA fusion oncoprotein as determined by an in situ proximity ligation assay.				NTRK1	fusion	The tumor of a 41-year-old woman with soft-tissue sarcoma metastatic to the lung was found to harbor an LMNA-NTRK1 gene fusion encoding a functional LMNA-TRKA fusion oncoprotein as determined by an in situ proximity ligation assay.			
26175118	LMNA	Underexpression	Breast Carcinoma	Using immunohistology, we found that a nuclear lamina component, lamin A/C and all of the investigated LINC complex components, SUN1, SUN2, and nesprin-2, were downregulated in human breast cancer tissues				HER2	Negative correlation	Statistical analysis showed that the frequencies of recurrence and HER2 expression were negatively correlated with lamin A/C expression (P < 0.05), and intrinsic subtype and ki-67 level were associated with nesprin-2 expression (P < 0.05).			
25770192	LMNA	altered expression	Pancreatic Carcinoma	In order to investigate known stress-evasion strategies observed in pancreatic cancer, the stress-resistant KLM1-derived cell lines KLM1-R (Gemcitabine (GEM)-induced stress) and KLM1-S (growth factor restriction-induced stress) were employed. Proteomic analysis revealed changes in the expression levels of 6 proteins, namely: transitional endoplasmic reticulum ATPase, lamin A/C, PDZ and LIM protein 1, calmodulin, heat shock protein 60 and alpha enolase.									
25192722	LMNA	Underexpression	Ovarian Carcinoma	This study is to investigate the key proteins which may play an important role in the VEGF-induced progress of ovarian cancer cells.  A total of 17 expressed differential proteins were identified, 8 proteins were upregulated (ACTB, TIM, PDIA3, PDIA1, DCTN2, KIC17, SIAS, and KIC10) and 9 downregulated (KIC18, GRP78, CAPG, PPIA, ROA2, LMNA, EZRI, ADRM1, and ENOA).									
24608381	LMNA	Underexpression	Ovarian Carcinoma	The relative expression levels of Ezrin and Lamin A/C mRNA in the epithelial ovarian cancer specimens were (0.026±0.003) and (0.060±0.007), respectively, which were significantly lower than those in the normal ovarian specimens (P<0.05)									
24293108	LMNA	altered expression	Bladder Carcinoma	In this study, we have studied the relationships between the mRNA expressions of A-type lamins, LMNB1 and LBR and the clinicopathological parameters in human breast cancer. Higher lamin A/C expression was associated with the early clinical stage (TNM1 vs. TNM3 - 13 vs. 0.21; p = 0.0515), with better clinical outcomes (disease-free survival vs. mortality - 11 vs. 1; p = 0.0326), and with better overall (p = 0.004) and disease-free survival (p = 0.062).									
22057372	LMNA	Hypomethylation	Gastric Carcinoma	Eighteen gastric cancer cell lines showed 95% unmethylation of lamin A/C and 1 cell line showed partial methylation. In colorectal cancer, only 1 out of 5 cancer cell lines (20%) was partially methylated and the remaining cell lines, including 1 normal colon cell line was unmethylated. With RT-PCR, all cell lines demonstrated mRNA expression of lamin A/C regardless of methylation status.									
21627864	LMNA	Loss of Expression	Breast Carcinoma	We found that nuclear lamina proteins lamin A/C are absent in a significant fraction (38%) of human breast cancer tissues									
21621406	LMNA	Underexpression	Colon Carcinoma	Low levels of LMNA expression were observed in 17.8% of colon tumours, with disease recurrence occurring in 45.5% of stage II and III colon cancer patients with LMNA-low expressing tumours compared to 29.6% of patients with LMNA-high expressing tumours (p=0.01).									
21439080	LMNA	Loss of Expression	Ovarian Carcinoma	We found that nuclear lamina proteins lamin A/C are often absent (47%) in ovarian cancer cells and tissues.									
19144202	LMNA	Underexpression	Primary gastric cancer 	Both lamin A/C mRNA and protein expression were downregulated in the majority of tumours compared with corresponding normal gastric tissues (p = 0.011 and p = 0.036, respectively).									
19121265	LMNA	Overexpression	Colorectal Carcinoma	CRC (colorectal cancer) patients expressing lamin A/C in their tumour tissue were found to have a 2-fold greater risk of CRC-related mortality compared with patients with lamin A/C-negative tumours.									
18320592	LMNA	Overexpression	Esophageal Carcinoma	Fifteen proteins were identified with differences of more than five folds, comprising the down-regulation of annexin A2, histone deacetylase 10 isoform beta and protein disulfide-isomerase ER-60 precursor, and the up-regulation of heat shock 70 kDa protein 9B precursor, solute carrier family 44 Member 3, heterogeneous nuclear ribonucleoprotein L (hnRNP L), eukaryotic translation initiation factor 4A isoform 2, triosephosphate isomerase1 (TPI), peroxiredoxin1 (PRX1), forminotransferase cyclodeaminase form (FTCD), fibrinogen gamma-A chain precursor, kinesin-like DNA binding protein, lamin A/C, cyclophilin A (CypA), and transcription factor MTSG1.									
17954908	LMNA	Overexpression	Ovarian Carcinoma	We have used protein microarrays and autoantibodies from cancer patients to identify proteins that are aberrantly expressed in ovarian tissue. Lamin A/C, SSRP1, and RALBP1 were found to exhibit increased expression in the cancer tissue relative to controls.									
16518869	LMNA	Mutation	Colon Carcinoma	The study investigated the molecular basis of resveratrol (RSV)-evoked apoptosis in four (Bax+/-, Bax-/-, p53+/+, and p53-/-) HCT116 colon cancer cell lines. RSV induced apoptosis in all the cells in a dose-dependent manner; however, Bax+/- and p53+/+ cells were more susceptible than their knockout counterparts (Bax-/- and p53-/-, respectively). Using Bax+/- cells as a model, proteomic analysis revealed four RSV-responsive events: fragmentation of lamin A/C protein; increase in concentration of a more basic isoelectric variant of the ribosomal protein P0; and decrease in concentration of dUTPase as well as stathmin 1.									
15867203	LMNA	loss of expression (hypermethylation)	Leukemia; Lymphoma	Epigenetic silencing of the lamin A/C gene by CpG island promoter hypermethylation is responsible for the Loss of expression of A-type lamins in leukemias and lymphomas.									
10517909	LMNA	Underexpression	Colon Carcinoma; adenoma; Gastric Carcinoma	The expression of lamin A/C was reduced and was frequently undetectable by immunohistochemistry in all primary colon carcinomas and adenomas, and in 7/8 primary gastric cancers									
24522517	MINA	Overexpression	Pancreatic Carcinoma	In this study, we found markedly increased Mina53 expression in pancreatic cancer tissue specimens.	c-Myc	Positive regulation 	Myc-induced nuclear antigen (Mina53) is a protein with a molecular weight of 53kDa expression of which is induced by c-Myc.						
24505346	MINA	Overexpression	Lung Carcinoma	Clinically, we found that increased expression of mdig in cancer tissues correlates with poorer overall survival of the lung cancer patients, esp., for those without lymph node metastasis.									
24337011	MINA	Overexpression	Gastric Carcinoma	The expression levels of mina53 and c-myc mRNA in the gastric carcinomas were found to be higher when compared to these levels in the adjacent normal tissues.									
20070393	MINA	Overexpression	Hepatocellular Carcinoma	Surgically resected 53 HCC tissues were immunohistochemically examined for Mina53 and mimitin expressions and their relationship to clinicopathological factors.Mina53 expression was high in the tumors of >2 cm of diameter than in </=2 cm (P < 0.01).				MIB-1	Positive correlation	The cases with a high Mina53 expression also had a high expression of a proliferation marker MIB-1			
19756735	MINA	Overexpression	Lung Carcinoma	We observed that 62% of patients evidenced overexpression of Mina53 from the early clinical stages of lung cancer.	c-Myc	positive regulation	Mina53, whose expression is directly induced by c-Myc, is overexpressed in various cancers and plays an important role in cell growth.						
18629780	MINA	Overexpression	Gastric Carcinoma	Elevated expression of Mina53 was observed in 72 (91.1%) of the gastric carcinomas.				PCNA	Positive correlation	Mina53 expression was positively associated with PCNA level (r=0.756, p<0.01).			
18022432	MINA	Overexpression	Neuroblastoma	The Cap43 expression score was significantly high in the cases that had one of the good prognostic factors (<1 year old, early stage, mass screening case, no MYCN gene amplification), whereas the Mina53 expression score was high in those with poor prognostic factors. Regarding the MYCN expression site, the Cap43 expression score was significantly high in the cases demonstrating cytoplasm expression, whereas the Mina53 expression score was significantly high in the cases demonstrating nucleus expression.				ki-67	Correlation 	A significant relationship was found between Cap43 and TrkA, between Mina53 and Ki-67, and between Mina53 and TrkA.			
17803656	MINA	Overexpression	Renal Cell Carcinoma	In conclusion, Mina53 is overexpressed in RCC tissue from patients with poor prognostic factors, suggesting that Mina53 overexpression is one of the factors for poor prognosis in RCC.									
17786344	MINA	Overexpression	Colon Carcinoma; Esophageal Squamous Cell Carcinoma; Lymphoma	Elevated expression of Mina53 protein was found in >80% of colon cancer and esophageal squamous cell carcinoma (ESCC). Although the expression of Mina53 as well as c-Myc was less frequent in lymphoma compared with those of colon and ESCC, increased expression of Mina53 was found in Burkitt-like lymphoma (1/1), Hodgkin's lymphoma (3/5), diffuse large B cell lymphoma (DLBCL) (5/13), lymphomas with a transition from follicular to DLBCL (1/2), with none in follicular (0/4) and T cell lymphoma (0/3).	c-Myc	Positive regulation	Mina53 (mina) was identified as a gene, which is directly induced by the oncogene c-myc. Mina53 expression correlated well with c-Myc expression in lymphoma, suggesting that c-Myc is a controlling factor for mina53 expression also in lymphomas.						
15534111	MINA	Overexpression	Esophageal Squamous Cell Carcinoma	Western blot analysis of surgically resected ESCC specimens indicated that the expression of Mina53 in tumors was increased compared with that in adjacent nonneoplastic tissues in all four specimens examined.									
14695334	MINA	Overexpression	Colon Neoplasm; adenoma; colon adenocarcinoma	We also found that expression of Mina53 was elevated in colon tumor tissues by immunoblotting analysis. Tissue sections of 23 surgical cases of adenocarcinoma and 1 case of adenoma were stained immunohistochemically, and the expression of Mina53 was found to be elevated in all of the adenocarcinomas compared to adjacent nonneoplastic tissues, which showed little staining.									
26645717	JMJD6	Overexpression	Oral Cavity Squamous Cell Carcinoma	JMJD6 is highly expressed in CSC-enriched populations of human oral squamous cell carcinoma (OSCC) cell lines							ALDH1; IL4	positive regulation	Conversely, ectopic expression of JMJD6 enhanced CSC characteristics including self-renewal, ALDH1 activity, migration/invasion and drug resistance. Mechanistically, JMJD6 induces interleukin 4 (IL4) transcription by binding to its promoter region.
25951181	JMJD6	Overexpression	Breast Carcinoma	The analysis of JMJD6 expression in a cohort of breast tumour samples indicates that JMJD6 was highly expressed in aggressive breast tumours.									
23595221	JMJD6	Overexpression	Lung Adenocarcinoma	By qRT-PCR and Western blot, the relative expression levels of JMJD6 mRNA and protein were significantly higher in lung adenocarcinoma tissues than in corresponding non-tumorous lung tissues (P < 0.001).									
22621393	JMJD6	Overexpression	Breast Carcinoma	Through microarray informatics, Cox proportional hazards regression was used to analyze the correlation between gene expression and distant metastasis-free survival (DMFS) of patients in 14 independent breast cancer cohorts. JMJD6 emerged as a top candidate gene robustly associated with poor patient survival. JMJD6 was expressed at highest levels in tumors associated with worse outcomes, including ER- and basal-like, Claudin-low, Her2-enriched, and ER+ Luminal B tumors.									
26072331	KAT7	Underexpression	Acute Myeloid Leukemia	Chromatin-modifying enzymes are frequently altered in acute myeloid leukemia (AML). In the current study, we identified MYST2, a core histone acetyltransferase, to be suppressed in blast cells from AML patients compared with nonmalignant hematopoietic progenitor cells.									
22101407	KAT7	Underexpression 	Breast Carcinoma 	In this study, we used microarray data from the GEO database to compare gene expression for regulators of metabolism and epigenetic alterations among non-invasive epithelial (MCF-7, MDA-MB-361, and T-47D) and invasive mesenchymal (MDA-MB-231, Hs-578T, and BT-549) breast cancer cell lines. The expression of genes, including GLS1, GFPT2, LDHA, HDAC9, MYST2, and SUV420H2, was assessed using RT-PCR. There was differential expression between epithelial and mesenchymal cell lines. MYST2 and SUV420H2 regulate the levels of the epigenetic biomarkers histone H4 lysine 16 acetylation (H4K16ac) and histone H4 lysine 20 trimethylation (H4K20me3), respectively. Reduced amounts of H4K16ac and H4K20me3 correlated with lower levels of MYST2 and SUV420H2 in mesenchymal cells and, along with reduced amounts of histone H3 lysine 9 acetylation (H3K9ac), were found to distinguish epithelial from mesenchymal cells.				H4K16ac; H4K20me3		Reduced amounts of H4K16ac and H4K20me3 correlated with lower levels of MYST2 and SUV420H2 in mesenchymal cells and, along with reduced amounts of histone H3 lysine 9 acetylation (H3K9ac), were found to distinguish epithelial from mesenchymal cells.			
21040551	KAT7	Overexpression	Breast Carcinoma	HBO1 was highly expressed in breast cancer tissues and significantly correlated with estrogen receptor α (ERα) (p<0.001) and progestational hormone (PR) (p=0.002).	E2; ICI 182; ICI 780; ERα	positive regulation; negative regulation; negative regulation; negative regulation	17β-estradiol (E2) could upregulate HBO1 gene expression which was significantly inhibited by ICI 182,780 or ERα RNAi.						
19393168	KAT7	Overexpression	Testis carcinoma; Ovarian Carcinomaa; Breast Carcinoma; Gastric Carcinoma; esophagus carcinoma; Bladder Carcinoma	Immunohistochemistry for Hbo1 in 11 primary human tumor types revealed strong Hbo1 protein expression in carcinomas of the testis, ovary, breast, stomach/esophagus, and bladder.									
19372580	KAT7	copy number change	Breast Carcinoma	We identified and validated seven regions of copy number alteration associated with different subtypes, and used integrative bioinformatics analysis to identify candidate oncogenes and tumor suppressors, including ERBB2, GRB7, MYST2, PPM1D, CCND1, HDAC2, FOXA1, and RASA1.									
27471561	MTA3	Overexpression	Prostate Carcinoma	Protein expression changes and altered pathway associations were identified in prostate cancer generally and in African American prostate cancer specifically. The Metastasis Associated Protein 3 (MTA3) pathway was significantly enriched in tumor samples compared to non-malignant samples.									
26028330	MTA3	Underexpression	Breast Carcinoma 	We demonstrate that the GATA3/G9A/NuRD(MTA3) complex inhibits the invasive potential of breast cancer cells in vitro and suppresses breast cancer metastasis in vivo. Strikingly, the expression of GATA3, G9A, and MTA3 is concurrently downregulated during breast cancer progression, leading to an elevated expression of ZEB2, which, in turn, represses the expression of G9A and MTA3 through the recruitment of G9A/NuRD(MTA1).				GATA3; G9A	Binding	We demonstrate that the GATA3/G9A/NuRD(MTA3) complex inhibits the invasive potential of breast cancer cells in vitro and suppresses breast cancer metastasis in vivo	ZEB2	Negative regulation	Strikingly, the expression of GATA3, G9A, and MTA3 is concurrently downregulated during breast cancer progression, leading to an elevated expression of ZEB2, which, in turn, represses the expression of G9A and MTA3 through the recruitment of G9A/NuRD(MTA1).
26002011	MTA3	Underexpression	Glioma	Results showed that MTA3 expression was decreased in glioma compared with that in normal brain (P < 0.05).									
24366407	MTA3	Overexpression	Breast Carcinoma	In estrogen-sensitive breast cancer, high levels of E-cadherin fit with high levels of ERα and MTA3 (a component of the transcription Mi-2/NuRD complex with intrinsic DAC activity).									
24293376	MTA3	Overexpression	Non-Small Cell Lung Carcinoma	qRT-PCR data showed significant downregulation of miR-495 in 56 NSCLC tissue samples and 5 lung cancer cell lines, compared with their adjacent normal tissue; furthermore, western blotting analysis revealed MTA3 protein was overexpressed in the tumor samples compared with the matched adjacent normal tissue.	miR-495	Negative regulation	The purpose of this study was to elucidate the molecular mechanisms by which miR-495 acts as a tumor suppressor in NSCLC. qRT-PCR data showed significant downregulation of miR-495 in 56 NSCLC tissue samples and 5 lung cancer cell lines, compared with their adjacent normal tissue; furthermore, western blotting analysis revealed MTA3 protein was overexpressed in the tumor samples compared with the matched adjacent normal tissue. MiR-495 was shown to not only inhibit the proliferation of lung cancer cells (A549 and Calu-3) but also to inhibit cell migration in vitro. Using western blotting and luciferase assays, MTA3 was identified as a target of miR-495						
23840517	MTA3	Overexpression	Non-Small Cell Lung Carcinoma	MTA3 was overexpressed in 62 of 108 (57.4%) human lung cancer samples and correlated with p-TNM stage (p<0.0001), nodal metastasis (p=0.0009) and poor prognosis (p<0.05).							cyclin A; cyclin D1; p-Rb	Positive regulation	Western blotting analysis revealed that the knockdown of MTA3 decreased the protein levels of cyclin A, cyclin D1 and p-Rb.
23671646	MTA3	Underexpression	gastroesophageal junction adenocarcinoma.	Here, we evaluated the expression pattern of the components of MTA3 pathway and the corresponding prognostic significance in GEJ adenocarcinoma. MTA3 expression was decreased at both protein and mRNA levels in tumor tissues compared to the non-tumorous and lowed MTA3 levels were noted in tumor cell lines with stronger metastatic potential.				Mi-2/NuRD complex	Binding	The metastasis-associated gene MTA3, a novel component of the Mi-2/NuRD transcriptional repression complex, was identified as master regulator of EMT through inhibition of Snail to increase E-cadherin expression in breast cancer.			
23612572	MTA3	copy number change	Li-Fraumeni syndrome	 Using a custom-designed high-resolution array CGH, we evaluated the presence of rare germline CNVs in 64 patients fulfilling the Chompret criteria for LFS, but without any detectable TP53 alteration. Remarkably, in four patients who had developed each brain tumour, the detected CNV overlap the KDM1A, MTA3, TRRAP or SIRT3 genes encoding p53 partners involved in histone methylation or acetylation.									
20865667	MTA3	Underexpression	Endometrioid Adenocarcinoma	Overall, endometrioid adeno-carcinomas of histological differentiation grade 3 demonstrated a significantly lower expression of MTA3 compared to carcinomas of histological grade 1 and 2 (p<0.05). MTA3 expression is reduced in endometrioid adenocarcinomas of poor differentiation, though without any correlation to ER-alpha and ER-beta expression. Furthermore, the expression of MTA3 did not affect progression-free, cause-specific and overall survival.									
19363681	MTA3	Overexpression	Choriocarcinoma	A high expression level of MTA1 and MTA3 was further observed in the nuclei of human chorionic carcinoma cells, as shown by immunofluorescence analysis, and confirmed by Western blot and RT-PCR analysis.									
16502042	MTA3	SNP	Breast Carcinoma	Since E-Cad may play an initiating role during breast tumorigenesis, we hypothesized that this ER-signaling pathway may also determine susceptibility to breast cancer, and examined this in a multigenic case-control study of 468 incident breast cancer patients and 470 healthy controls by genotyping the single nucleotide polymorphisms (SNPs) in five genes (ER, MTA3, Snail, E-Cad, and MTA1) in the ER-signaling pathways. Support for this hypothesis came from the observations that (a) with the exception of Snail, which interacted differently with reproductive risk factors in relation to breast cancer risk, there was a joint effect of the SNPs of these genes and estrogen-related risk factors (age at first full-term pregnancy and obesity, measured by the body mass index) on breast cancer risk (p < 0.05);							E-cadherin; Snail; ER	Regulation	The invasion-suppressor gene, E-Cadherin (E-Cad), has recently been identified as a downstream target gene regulated by the ER-MTA3 pathway via the transcriptional repressor, Snail, and the ER-MTA3-Snail-E-Cad pathway has therefore been evoked to explain the clinical observation that ER expression in breast cancer is generally associated with a better clinical outcome.
12705869	MTA2	Overexpression	Glioma	miR-548b was underexpressed in human glioma tissues and cell lines. Re-expression of miR-548b significantly inhibited the proliferation and colony formation of U87 and U373 glioma cells. Enforced expression of miR-548b significantly impaired the invasiveness of glioma cells. Notably, metastasis tumor-associated protein-2 (MTA2) was a direct target of miR-548b. Overexpression of miR-548b negatively regulated endogenous MTA2 expression in U87 cells.	mR-548b	Negative regulation	miR-548b was underexpressed in human glioma tissues and cell lines. Re-expression of miR-548b significantly inhibited the proliferation and colony formation of U87 and U373 glioma cells. Enforced expression of miR-548b significantly impaired the invasiveness of glioma cells. Notably, metastasis tumor-associated protein-2 (MTA2) was a direct target of miR-548b. Overexpression of miR-548b negatively regulated endogenous MTA2 expression in U87 cells.						
27509928	MTA2	genetic alteration	Gastric Carcinoma	The development of gastric cancer involves various alterations in mRNAs, genes (GOLPH3, MTA2) and proteins (Coronins). miRNAs, Hsamir135b, MiR21, miR106b, miR17, miR18a, MiR21, miR106b, miR17, miR18a and MiRNA375, miRNA1955p are the latest diagnostic biomarkers which can facilitate the early diagnosis of gastric carcinomas.									
27051300	MTA2	Overexpression	Nasopharyngeal Carcinoma	MTA2 was upregulated in NPC tissues and three NPC cell lines detected (CNE1, CNE2, and HNE1).							Akt; matrix metalloproteinase 7; cyclin D1	Positive regulation	MTA2 overexpression activated Akt and upregulated the expression of matrix metalloproteinase 7 and cyclin D1.
26722504	MTA2	Overexpression	Hepatocellular Carcinoma	We found MTA2 and Ki-67 were both increased in HCC tissues than those in adjacent tissues and nuclear MTA2 was associated with Ki-67 (P = 0.019).				Ki-67	Positive correlation	We found MTA2 and Ki-67 were both increased in HCC tissues than those in adjacent tissues and nuclear MTA2 was associated with Ki-67 (P = 0.019).			
26261611	MTA2	Overexpression	Colorectal Carcinoma	Expression of MTA2 in CRC tissues were notably higher than their adjacent tissues (P < 0.001) and showed significant positive correlation with tumor grade (r(2) > 0, P < 0.01).									
26254420	MTA2	Underexpression	Pleural Malignant Mesothelioma	In the Gordon Mesothelioma Study, 34 of them were assessed out of which SUMO1, UBC3, KIAA0101, HDAC2, DAXX, RBBP4, BBS1, NONO, RBBP7, HTRA2, and STUB1 were significantly overexpressed whereas TRAF6 and MTA2 were significantly underexpressed in MPM patients (network 2).									
25969565	MTA2	Overexpression	Lung Carcinoma	The patient samples collected in our hospital show that metastasis-associated protein 2 was expressed in aggressive lung cancer cells, and its higher expression is correlated with poor prognosis							Ep-CAM; E-cadherin	Negative regulation	Metastasis-associated protein 2 promoted cell migration and invasion in vitro and in vivo through binding on the promoter of Ep-CAM and E-cadherin. Luciferase reporter assays showed repressed or enhanced E-cadherin or Ep-CAM promoter-driven luciferase reporter under metastasis-associated protein 2 overexpression or depletion.
24468085	MTA2	Overexpression	Colon Carcinoma	MTA2 is a member of metastasis associated family, which is highly expressed in several solid tumors and associated with tumor cells migration and invasion.				p300	Acetylation	Here, we report that MTA2 is acetylated at K152 and histone acetyltransferase p300 binds to and acetylates MTA2.			
23400716	MTA2	Overexpression	Pancreatic Ductal Adenocarcinoma	We found that MTA2 mRNA and protein expression levels were both significantly upregulated in PDA lesions compared with adjacent noncancerous tissues.									
23158992	MTA2	Overexpression	Gastric Carcinoma	The expression of MTA2 protein was significantly higher in primary lesions of the gastric cancer than that in non-cancerous mucosa by IHC (31.3% vs 12.0%, P < 0.01).				Sp1	Positive correlation	Furthermore, MTA2 expression was concomitant with Sp1 expression (r = 0.320, P < 0.05). Elevated MTA2 expression was observed in Sp1 positive cancer tissues (χ(2) = 9.565, P < 0.01). RT-PCR results also demonstrated that MTA2 mRNA was also highly expressed in the tissue samples with Sp1 expression.			
22585429	MTA2	Overexpression	non-Small Cell Lung Carcinoma	Nuclear MTA2 expression was detected in 148 cases of NSCLC (66.4%), and was correlated with advanced TNM stages (p=0.023), tumor size (p=0.036), and lymph node metastasis (p=0.004).									
20704817	MTA2	Overexpression	non-Small Cell Lung Carcinoma	The positive rate of MTA2 was 58.18% (64/110) in 110 NSCLC cases.									
19702911	MTA2	Overexpression	Hepatocellular Carcinoma	Notably, the MTA2 expression level strongly increased depending on the size and differentiation of HCC.									
16961294	MTA2	Overexpression	Ovarian Carcinoma	The expression of MTA2 mRNA and protein was detected in all of 4 cell lines of ovarian epithelial cancer. The expression of MTA2 mRNA and protein was higher in strong migration cell lines than in weak migration ones. In borderline and malignant ovarian tissues tested, MTA2 staining was dramatically stronger than in normal and benign tissues (P < 0.01). The expression levels in malignant ovarian tissues were significantly higher than that in borderline epithelial ovarian tissues (P < 0.01).									
27282883	MLLT10	Mutation	Acute Lymphoblastic Leukemia	Of the KMT2A fusion partner genes, MLLT3 was present in five patients, all with acute lymphoblastic leukemia, MLLT1 in two patients, and MLLT10, MLLT4, MLLT11, and AFF1 in one patient each				KMT2A	Fusion	Of the KMT2A fusion partner genes, MLLT3 was present in five patients, all with acute lymphoblastic leukemia, MLLT1 in two patients, and MLLT10, MLLT4, MLLT11, and AFF1 in one patient each			
26477762	MLLT10	Mutation	mixed lineage Leukemia	The MLL-AF10 positive patients were mostly young men, the majority FAB classification was M5 or M4, often onset with fever, low white blood cells and low level of fusion gene, usually associated with WT1 mutation.				MLL; WT1	Fusion; association	The MLL-AF10 positive patients were mostly young men, the majority FAB classification was M5 or M4, often onset with fever, low white blood cells and low level of fusion gene, usually associated with WT1 mutation.			
25740345	MLLT10	Mutation	Leukemia	Chromosomal rearrangements of the MLL gene are associated with high-risk infant, pediatric, adult, and therapy-induced acute leukemias. So far, about 80 different direct MLL fusions and about 120 reciprocal MLL fusions have been characterized at the molecular level.				wild-type AF4 multiprotein complex	Binding	In addition, the most frequent MLL fusions (MLL-AF4, MLL-AF9, MLL-AF10, and MLL-ENL) are all recruiting the wild-type AF4 multiprotein complex that contains the target proteins P-TEFb, BRD4, and DOT1L.			
25725124	MLLT10	Mutation	Acute Myeloid Leukemia	Here we investigated an 11-month-old male presenting with hyperleukocytosis being diagnosed with AML subtype FAB-M5b. In banding cytogenetics a der(19)t(19;)(q13.3;) and del(Y)(q11.23) were found as sole aberrations. Molecular cytogenetics revealed that the MLL gene was disrupted and even partially lost due to a t(10;19;11)(p12.31;q13.31;q23.3), an MLL/MLLT10 fusion appeared, and the der(Y) was an asymmetric inverted duplication with breakpoints in Yp11.2 and Yq11.23.				FAB	Fusion	Here we investigated an 11-month-old male presenting with hyperleukocytosis being diagnosed with AML subtype FAB-M5b. In banding cytogenetics a der(19)t(19;)(q13.3;) and del(Y)(q11.23) were found as sole aberrations. Molecular cytogenetics revealed that the MLL gene was disrupted and even partially lost due to a t(10;19;11)(p12.31;q13.31;q23.3), an MLL/MLLT10 fusion appeared, and the der(Y) was an asymmetric inverted duplication with breakpoints in Yp11.2 and Yq11.23.			
25464900	MLLT10	Mutation	Acute Lymphoblastic Leukemia	In the present study, a 16-year-old male was diagnosed with T-precursor cell ALL and a normal karyotype after standard GTG-banding, was studied retrospectively (>10 years after diagnosis) in frame of a research project by molecular approaches. In addition to molecular cytogenetics, multiplex ligation-dependent probe amplification (MLPA) and high resolution array-comparative genomic hybridization (aCGH) were also applied. Thus, the following yet unrecognized balanced chromosomal aberrations were detected: der(3)t(3;5)(p23;q31.1), der(5)t(3;5)(p23;q35.3), der(5)t(5;10)(q31.1;p12.3) and der(10)t(5;10)(q35.3;p12.3). The oncogene MLLT10 was involved in this rearrangement as was the IL3 gene; in addition, trisomy 4 was present. All of these clonal aberrations were found in 40% of the cells.									
25027513	MLLT10	Mutation	Leukemia	Elevated expression of HOXA genes is critical for leukemia maintenance and progression; however, the precise mechanism by which CALM-AF10 alters HOXA gene expression is unclear. We previously determined that CALM contains a CRM1-dependent nuclear export signal (NES), which is both necessary and sufficient for CALM-AF10-mediated leukemogenesis. Here, we find that interaction of CALM-AF10 with the nuclear export receptor CRM1 is necessary for activating HOXA gene expression. We show that CRM1 localizes to HOXA loci where it recruits CALM-AF10, leading to transcriptional and epigenetic activation of HOXA genes.				CALM; CRM1	Fusion; binding	Here, we find that interaction of CALM-AF10 with the nuclear export receptor CRM1 is necessary for activating HOXA gene expression. We show that CRM1 localizes to HOXA loci where it recruits CALM-AF10, leading to transcriptional and epigenetic activation of HOXA genes	HOXA	Positive regulation	Here, we find that interaction of CALM-AF10 with the nuclear export receptor CRM1 is necessary for activating HOXA gene expression. We show that CRM1 localizes to HOXA loci where it recruits CALM-AF10, leading to transcriptional and epigenetic activation of HOXA genes
24755950	MLLT10	SNP	meningioma	We genotyped two tightly linked single-nucleotide polymorphisms (SNPs) at MLLT10 associated with meningioma (rs12770228) or ovarian cancer (rs1243180), and tested for associations among 295 meningioma cases, 606 glioma cases and 646 noncancer controls, all of European descent. The variant 'A' allele in MLLT10 rs12770228 was associated with an increased risk of meningioma (per allele odds ratio: 1.25; 95% confidence interval: 1.02, 1.53; P=0.031). Similar associations were observed for rs1243180.									
24635731	MLLT10	Mutation	Lymphoblastic Lymphoma	Fluorescence in situ hybridization screening of paraffin-embedded formalin-fixed tissue indeed revealed the presence of an MLL rearrangement. The genomic fusion partner was identified as AF10 by DNA sequencing of the MLL breakpoint region. The MLL-AF10 fusion gene was further detected in cytologically normal pretreated bone marrow.									
24367274	MLLT10	Mutation	Acute Lymphoblastic Leukemia	Finally, we detected gene fusions, of which several can explain the over-expression of key driver genes such as TLX1, PLAG1, LMO1, or NKX2-1; and others result in novel fusion transcripts encoding activated kinases (SSBP2-FER and TPM3-JAK2) or involving MLLT10.									
23831922	MLLT10	Mutation	T Acute Lymphoblastic Leukemia	CALM-AF10 fusion within early T-cell precursor acute lymphoblastic leukemia (21%) did, however, identify a group with a poor prognosis with regards to event-free survival (P=0.04).				CALM	Fusion	CALM-AF10 fusion within early T-cell precursor acute lymphoblastic leukemia (21%) did, however, identify a group with a poor prognosis with regards to event-free survival (P=0.04).			
23673860	MLLT10	Mutation	T Acute Lymphoblastic Leukemia	The MLLT10 gene, located at 10p13, is a known partner of MLL and PICALM in specific leukemic fusions generated from recurrent 11q23 and 11q14 chromosome translocations. Deep sequencing recently identified NAP1L1/12q21 as another MLLT10 partner in T-cell acute lymphoblastic leukemia (T-ALL).				NAP1L1; HNRNPH1; DDX3X	Fusion	Deep sequencing recently identified NAP1L1/12q21 as another MLLT10 partner in T-cell acute lymphoblastic leukemia (T-ALL). In pediatric T-ALL, we have identified 2 RNA processing genes, that is, HNRNPH1/5q35 and DDX3X/Xp11.3 as new MLLT10 fusion partners. Gene expression profile signatures of the HNRNPH1- and DDX3X-MLLT10 fusions placed them in the HOXA subgroup. Remarkably, they were highly similar only to PICALM-MLLT10-positive cases.			
23628958	MLLT10	Mutation	Leukemia	All patients were classified according to their gender (852 females and 745 males), age at diagnosis (558 infant, 416 pediatric and 616 adult leukemia patients) and other clinical criteria. Combined data of our study and recently published data revealed a total of 121 different MLL rearrangements, of which 79 TPGs are now characterized at the molecular level. However, only seven rearrangements seem to be predominantly associated with illegitimate recombinations of the MLL gene (�?90%): AFF1/AF4, MLLT3/AF9, MLLT1/ENL, MLLT10/AF10, ELL, partial tandem duplications (MLL PTDs) and MLLT4/AF6, respectively.									
22871473	MLLT10	Mutation	Acute Myeloid Leukemia	In this study, we assessed the characteristics and outcome of 18 PICALM-MLLT10 AML patients. As compared with non PICALM-MLLT10 patients (n=72), PICALM-MLLT10 AML were characterized by more frequent extramedullary diseases, CD7 expression and higher platelet counts.				CD7	Correlation	In this study, we assessed the characteristics and outcome of 18 PICALM-MLLT10 AML patients. As compared with non PICALM-MLLT10 patients (n=72), PICALM-MLLT10 AML were characterized by more frequent extramedullary diseases, CD7 expression and higher platelet counts.			
22064352	MLLT10	Mutation	Leukemia	We analyzed the fusion transcripts in 20 new cases of CALM/AF10-positive leukemias, and compared the gene expression profile of 10 of these to 125 patients with other types of leukemia and 10 normal bone marrow samples.				CALM	Fusion	The t(10;11)(p12;q14) is a recurring chromosomal translocation that gives rise to the CALM/AF10 fusion gene, which is found in acute myeloid leukemia, acute lymphoblastic leukemia and malignant lymphoma. We analyzed the fusion transcripts in 20 new cases of CALM/AF10-positive leukemias, and compared the gene expression profile of 10 of these to 125 patients with other types of leukemia and 10 normal bone marrow samples.	COMMD3; BMI1; DNAJC1; SPAG6	Positive regulation	Interestingly, we observed a striking upregulation of four genes located immediately centromeric to the break point of the t(10;11)(p12;q14) on 10p12 (COMMD3 (COMM domain containing 3), BMI1 (B lymphoma Mo-MLV insertion region 1 homolog), DNAJC1 (DnaJ (Hsp40) homolog subfamily C member 1) and SPAG6 (sperm associated antigen 6)).
21880637	MLLT10	Mutation	T Acute Lymphoblastic Leukemia	We analyzed the incidence and prognostic value of PHF6 mutations in 96 Chinese patients with T-cell acute lymphoblastic leukemia. NOTCH1 mutations, FBXW7 mutations, WT1 mutations, JAK1 mutations, SIL-TAL1 fusions, SET-NUP214 fusions and CALM-AF10 fusions were present in 44/96 (45.8%), 9/96 (9.4%), 4/96 (4.1%), 3/49 (6.1%), 9/48 (18.8%), 3/48 (6.3%) and 0/48 (0%) of patients, respectively.				CALM	Fusion	NOTCH1 mutations, FBXW7 mutations, WT1 mutations, JAK1 mutations, SIL-TAL1 fusions, SET-NUP214 fusions and CALM-AF10 fusions were present in 44/96 (45.8%), 9/96 (9.4%), 4/96 (4.1%), 3/49 (6.1%), 9/48 (18.8%), 3/48 (6.3%) and 0/48 (0%) of patients, respectively.			
20875875	MLLT10	Mutation	acute myeloblastic Leukemia	A 27-year-old woman was diagnosed with AML with the PICALM-MLLT10 fusion gene.				PICALM	Fusion	A 27-year-old woman was diagnosed with AML with the PICALM-MLLT10 fusion gene.			
20494936	MLLT10	Mutation	Acute Lymphoblastic Leukemia	We demonstrated that high expression of miR-196b is not unique to MLL-rearranged acute lymphoblastic leukemia but also occurs in patients with T-cell acute lymphoblastic leukemia patients carrying CALM-AF10, SET-NUP214 and inversion of chromosome 7.				CALM	Fusion	We demonstrated that high expression of miR-196b is not unique to MLL-rearranged acute lymphoblastic leukemia but also occurs in patients with T-cell acute lymphoblastic leukemia patients carrying CALM-AF10, SET-NUP214 and inversion of chromosome 7.			
20445327	MLLT10	Mutation	Acute Lymphoblastic Leukmia; Acute Myeloid Leukemia	Because the CALM-AF10 rearrangement is a rare chromosomal abnormality, it is not included in routine molecular tests for acute leukemia. Here, we describe the cases of 2 patients with the CALM-AF10 fusion gene.				HOXA; hDOT1L	Correlation	Here, we describe the cases of 2 patients with the CALM-AF10 fusion gene. The first patient (case 1) was diagnosed with T-cell ALL, and the second patient (case 2) was diagnosed with AML. Both patient samples showed expression of the homeobox A gene cluster and the histone methyltransferase hDOT1L, which suggests that they mediate leukemic transformation in CALM-AF10-positive and mixed-lineage leukemia-AF10-positive leukemias.			
20362230	MLLT10	Mutation	Leukemia	Here we describe a new MLL fusion partner gene, NEBL, which was identified in a case of acute myeloid leukemia in an infant. The chromosomal breakpoints of the MLL-NEBL and NEBL-MLL fusion genes were cloned by long-distance inverse polymerase chain reaction. The chromosomal breakpoints were located at 10p12, approximately 570 kb telomic of the MLLT10 (AF10) gene. AF10 and NEBL are localized in such close vicinity that they cannot be distinguished cytogenetically by G banding.				NEBL	fusion	Here we describe a new MLL fusion partner gene, NEBL, which was identified in a case of acute myeloid leukemia in an infant. The chromosomal breakpoints of the MLL-NEBL and NEBL-MLL fusion genes were cloned by long-distance inverse polymerase chain reaction. The chromosomal breakpoints were located at 10p12, approximately 570 kb telomic of the MLLT10 (AF10) gene. AF10 and NEBL are localized in such close vicinity that they cannot be distinguished cytogenetically by G banding.			
20299091	MLLT10	Mutation	mixed phenotype acute Leukemia; bilineal and biphenotypic immunophenotype	We report a case of a 6-month-old boy with a mixed phenotype acute leukemia (MPAL), bilineal and biphenotypic immunophenotype (B-lymphoid lineage and combined B-lymphoid and monocytic lineage) with t(10;11)(p12;q23);MLL-MLLT10.				MPAL	fusion	To the best of our knowledge, this is the first reported MLL-MLLT10 rearranged case presenting as MPAL in an infant.			
20065082	MLLT10	Mutation	T Acute Lymphoblastic Leukemia	The combined hybridization was abnormal in 21/23 patients (91%), and revealed multiple genomic changes in 13 (56%). It found abnormalities known to be associated with T-cell acute lymphoblastic leukemias, i.e. CDKN2A-B/9p21 and GRIK2/6q16 deletions, TCR and TLX3 rearrangements, SIL-TAL1, CALM-AF10, MLL-translocations, del(17)(q12)/NF1 and other cryptic genomic imbalances, i.e. 9q34, 11p, 12p, and 17q11 duplication, del(5)(q35), del(7)(q34), del(9)(q34), del(12)(p13), and del(14)(q11).				CALM	Fusion	The combined hybridization was abnormal in 21/23 patients (91%), and revealed multiple genomic changes in 13 (56%). It found abnormalities known to be associated with T-cell acute lymphoblastic leukemias, i.e. CDKN2A-B/9p21 and GRIK2/6q16 deletions, TCR and TLX3 rearrangements, SIL-TAL1, CALM-AF10, MLL-translocations, del(17)(q12)/NF1 and other cryptic genomic imbalances, i.e. 9q34, 11p, 12p, and 17q11 duplication, del(5)(q35), del(7)(q34), del(9)(q34), del(12)(p13), and del(14)(q11).			
19840468	MLLT10	Mutation	 B Acute Lymphoblastic Leukemia	4 kind partner genes of MLL-AF4, AF9, AF10 and ENL were detected.									
19443658	MLLT10	Mutation	Leukemia	In this study, we show that the CALM-AF10 fusion protein can also greatly reduce global H3K79 methylation in both human and murine leukemic cells by disrupting the AF10-mediated association of hDOT1L with chromatin.				CALM	Fusion	In this study, we show that the CALM-AF10 fusion protein can also greatly reduce global H3K79 methylation in both human and murine leukemic cells by disrupting the AF10-mediated association of hDOT1L with chromatin.	hDOT1L	Negative regulation	In this study, we show that the CALM-AF10 fusion protein can also greatly reduce global H3K79 methylation in both human and murine leukemic cells by disrupting the AF10-mediated association of hDOT1L with chromatin.
18299449	MLLT10	Mutation	T Acute Lymphoblastic Leukemia	One subgroup, including MLL-rearranged, CALM-AF10 or inv (7)(p15q34) patients, is characterized by elevated expression of HOXA genes.				CALM; HOXA	Fusion; Association	One subgroup, including MLL-rearranged, CALM-AF10 or inv (7)(p15q34) patients, is characterized by elevated expression of HOXA genes.			
18245528	MLLT10	Mutation	T lymphoblastic Lymphoma	Fourteen intermediate LBL (Int-LBL) showed complete TCRD VDJ and TCRG VJ rearrangement, with TCRB VDJ rearrangement in the majority. All Int-LBL expressed HOX11/TLX1 or HOXA9 transcripts and a proportion of the latter were associated with CALM-AF10 or NUP214-ABL fusion transcripts.				CALM; HOXA11; HOXA9	Fusion; positive correlation; positive correlation	All Int-LBL expressed HOX11/TLX1 or HOXA9 transcripts and a proportion of the latter were associated with CALM-AF10 or NUP214-ABL fusion transcripts.			
17928886	MLLT10	Mutation	T Acute Lymphoblastic Leukemia	TAL1 or HOX11L2 rearrangements were associated with trends to good and poor outcomes, respectively. Also cases with high vs low TAL1 expression levels demonstrated a trend toward good outcome. Most cases with lower TAL1 levels were HOX11L2 or CALM-AF10 positive.				CALM	Fusion	TAL1 or HOX11L2 rearrangements were associated with trends to good and poor outcomes, respectively. Also cases with high vs low TAL1 expression levels demonstrated a trend toward good outcome. Most cases with lower TAL1 levels were HOX11L2 or CALM-AF10 positive.			
17927867	MLLT10	Mutation	Acute Myeloid Leukemia	Fusion genes, including AML1/ETO, PML/RARalpha, CBFbeta/MYH11, MLL gene rearrangements (that is, MLL/AF6, MLL/AF9, MLL/AF10, and MLL/MLL), DEK/CAN, TEL/PDGFR, and AML1/MDS1 (EVI-1), were detected in 28 (46.7%) patients by multiplex RT-PCR.				MLL	Fusion	Fusion genes, including AML1/ETO, PML/RARalpha, CBFbeta/MYH11, MLL gene rearrangements (that is, MLL/AF6, MLL/AF9, MLL/AF10, and MLL/MLL), DEK/CAN, TEL/PDGFR, and AML1/MDS1 (EVI-1), were detected in 28 (46.7%) patients by multiplex RT-PCR.			
17459201	MLLT10	Mutation	Leukemia	Fourteen fusion genes, including PML/RARalpha, PLZF/RARalpha, BCR/ABL, MLL/AF1, MLL/AF6, MLL/AF10, AML/Eto, CBFbeta/MYH11, TLS/ERG, TEL/AML1, MOZ/CBP, MLL/hCDCrel, LAF4/MLLT2, and FIP1L1/PDGFRalpha, and activation of all 4 proto-oncogenes were found in the 31 samples.				MLL	Fusion	That array was used on the specimens of bone marrow or peripheral blood from 31 patients with leukemia to detect simultaneously 37 fusion genes and 4 proto-oncogene activations often occurring in patients with leukemia. The established PCR array showed high efficiency of amplification and good sensibility (232 copies/microl) in the fusion gene detected. The standard curve had a satisfying linear range (10(2) approximately 10(8) copies/microl), showing a good reproducibility. Fourteen fusion genes, including PML/RARalpha, PLZF/RARalpha, BCR/ABL, MLL/AF1, MLL/AF6, MLL/AF10, AML/Eto, CBFbeta/MYH11, TLS/ERG, TEL/AML1, MOZ/CBP, MLL/hCDCrel, LAF4/MLLT2, and FIP1L1/PDGFRalpha, and activation of all 4 proto-oncogenes were found in the 31 samples.			
17039236	MLLT10	Mutation	Acute Leukemia 	Among nine cases of acute leukemia with translocation breakpoints at 10p13 and 11q14-21, a CALM/AF10 rearrangement was found in seven and was confirmed by reverse transcriptase polymerase chain reaction (RT-PCR) in all.				CALM; MLL	Fusion	Among nine cases of acute leukemia with translocation breakpoints at 10p13 and 11q14-21, a CALM/AF10 rearrangement was found in seven and was confirmed by reverse transcriptase polymerase chain reaction (RT-PCR) in all. This new FISH assay reliably discriminates between MLL/AF10 and CALM/AF10 genomic rearrangements, identifies variant and complex CALM/AF10 translocations and detects the CALM/AF10 rearrangement in extramedullary leukemic infiltrations.			
16956820	MLLT10	Mutation	T Acute Lymphoblastic Leukemia	Our data on CALM-AF10 rearranged T-ALL, albeit based on only three patients, suggest that this type of leukemia is associated with a poor outcome.				CALM	Fusion	Our data on CALM-AF10 rearranged T-ALL, albeit based on only three patients, suggest that this type of leukemia is associated with a poor outcome.			
16518848	MLLT10	Mutation	Leukemia	We also identified overexpression of HOXA9, a gene essential to myeloid differentiation that is expressed in PICALM-MLLT10 and MLL-rearranged acute leukemias.				PICALM; HOXA9; BCR-ABL1	Fusion; correlation; correlation	We also identified overexpression of HOXA9, a gene essential to myeloid differentiation that is expressed in PICALM-MLLT10 and MLL-rearranged acute leukemias. This case fits with and extends a recently proposed multistage AML model in which constitutive activation of tyrosine kinases by mutations (BCR-ABL1) are associated with deregulation of transcription factors central to myeloid differentiation (HOXA9 secondary to PICALM-MLLT10).			
16511515	MLLT10	Mutation	Leukemia	The precise localization of genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) was determined and several new TPGs were identified. The combined data of our study and published data revealed a total of 87 different MLL rearrangements of which 51 TPGs are now characterized at the molecular level. Interestingly, the four most frequently found TPGs (AF4, AF9, ENL and AF10) encode nuclear proteins that are part of a protein network involved in histone H3K79 methylation.									
16215946	MLLT10	Mutation	Acute Lymphoblastic Leukemia	Of the 62 patients, 23(37.1%) were found to carry 13 different fusion genes. The patients with immunophenotype of Pre-B-ALL were found to carry: TEL/AML1(3 cases); E2A/PBX1, E2A/HLF, TLS/ERG, MLL/AF4, MLL/AF9, MLL/AF10, MLL/AFX-MLL/AF6-MLL/ELL, MLL/AF6-MLL/ELL, dupMLL (one case for each); and HOX11 (6 cases).				MLL	Fusion	Of the 62 patients, 23(37.1%) were found to carry 13 different fusion genes. The patients with immunophenotype of Pre-B-ALL were found to carry: TEL/AML1(3 cases); E2A/PBX1, E2A/HLF, TLS/ERG, MLL/AF4, MLL/AF9, MLL/AF10, MLL/AFX-MLL/AF6-MLL/ELL, MLL/AF6-MLL/ELL, dupMLL (one case for each); and HOX11 (6 cases).			
16107895	MLLT10	Mutation	Leukemia	The t(10;11)(p13;q14-21) is found in T-ALL and acute myeloid leukemia and fuses CALM (Clathrin-Assembly protein-like Lymphoid-Myeloid leukemia gene) to AF10. In order to gain insight into the transcriptional consequences of this fusion, microarray-based comparison of CALM-AF10+ vs CALM-AF10- T-ALL was performed. This analysis showed upregulation of HOXA5, HOXA9, HOXA10 and BMI1 in the CALM-AF10+ cases.				HOXA5; HOXA9; HOXA10; BMI1	Positive correlation	This analysis showed upregulation of HOXA5, HOXA9, HOXA10 and BMI1 in the CALM-AF10+ cases. 			
15968309	MLLT10	Mutation	Leukemia	Ten fusion genes were detected in 115 cases of leukemia, including AML1/ETO, PML/RAR alpha, PLZF/RAR alpha, dupMLL, MLL/AF6, MLL/AF10, CBFbeta/MYH11, BCR/ABL, Hox11, and EVI1 BCR/ABL was positive in all the 52 cases of chronic myeloid leukemia; PML/RAR alpha was found in 21 of 25 acute promyelocytic leukemia (APL), and PLZF/RAR alpha was detected in one case of APL.				MLL	Fusion	Ten fusion genes were detected in 115 cases of leukemia, including AML1/ETO, PML/RAR alpha, PLZF/RAR alpha, dupMLL, MLL/AF6, MLL/AF10, CBFbeta/MYH11, BCR/ABL, Hox11, and EVI1 BCR/ABL was positive in all the 52 cases of chronic myeloid leukemia; PML/RAR alpha was found in 21 of 25 acute promyelocytic leukemia (APL), and PLZF/RAR alpha was detected in one case of APL.			
15851025	MLLT10	Mutation	Leukemia	We demonstrate that direct fusion of hDOT1L to MLL results in leukemic transformation in an hDOT1L methyltransferase activity-dependent manner. Transformation by MLL-hDOT1L and MLL-AF10 results in upregulation of a number of leukemia-relevant genes, such as Hoxa9, concomitant with hypermethylation of H3-K79.				MLL	Fusion	We demonstrate that direct fusion of hDOT1L to MLL results in leukemic transformation in an hDOT1L methyltransferase activity-dependent manner. Transformation by MLL-hDOT1L and MLL-AF10 results in upregulation of a number of leukemia-relevant genes, such as Hoxa9, concomitant with hypermethylation of H3-K79.	Hoxa9	Positive regulation	We demonstrate that direct fusion of hDOT1L to MLL results in leukemic transformation in an hDOT1L methyltransferase activity-dependent manner. Transformation by MLL-hDOT1L and MLL-AF10 results in upregulation of a number of leukemia-relevant genes, such as Hoxa9, concomitant with hypermethylation of H3-K79.
15843827	MLLT10	Mutation	Leukemia	Using cDNA microarrays, we determined the gene expression profiles of 40 cell lines as well as of primary leukemias harboring 11q23/MLL rearrangements, t(1;19)[TCF3/PBX1], t(12;21)[ETV6/RUNX1], t(8;21)[RUNX1/CBFA2T1], t(8;14)[IGH@/MYC], t(8;14)[TRA@/MYC], t(9;22)[BCR/ABL1], t(10;11)[PICALM/MLLT10], t(15;17)[PML/RARA], or inv(16)[CBFB/MYH11].				PICALM	Fusion	Using cDNA microarrays, we determined the gene expression profiles of 40 cell lines as well as of primary leukemias harboring 11q23/MLL rearrangements, t(1;19)[TCF3/PBX1], t(12;21)[ETV6/RUNX1], t(8;21)[RUNX1/CBFA2T1], t(8;14)[IGH@/MYC], t(8;14)[TRA@/MYC], t(9;22)[BCR/ABL1], t(10;11)[PICALM/MLLT10], t(15;17)[PML/RARA], or inv(16)[CBFB/MYH11].			
15637138	MLLT10	Mutation	T Acute Lymphoblastic Leukemia	Representative patients with T-ALL (91 patients) were classified into surface T-cell receptor (TCR)-expressing T-ALL patients (TCRalphabeta+ or TCRgammadelta+), pre-alphabeta T-ALL patients (cTCRbeta+, TCR-), and immature (IM) cTCRbeta-, TCR- T-ALL patients; 81 patients underwent genotyping for SIL-TAL1, CALM-AF10, HOX11, and HOX11L2.				CALM	Fusion	Representative patients with T-ALL (91 patients) were classified into surface T-cell receptor (TCR)-expressing T-ALL patients (TCRalphabeta+ or TCRgammadelta+), pre-alphabeta T-ALL patients (cTCRbeta+, TCR-), and immature (IM) cTCRbeta-, TCR- T-ALL patients; 81 patients underwent genotyping for SIL-TAL1, CALM-AF10, HOX11, and HOX11L2.			
15631658	MLLT10	Mutation	Leukemia	In order to determine the involvement of CALM-AF10 fusion transcripted in primary leukemias with t(10;11) and its chemotherapy sensitivity in vitro, the AF10-CALM fusion transcripts were detected by reverse transcription-polymerase chain reaction (RT-PCR), and the chemotherapy sensitivity testing in vitro was undergone by MTT assay in five t(10;11) leukemia samples from patients with ALL, AML and lymphoblastic lymphoma. The results showed that five different-sized AF10-CALM product and four different-sized CALM-AF10 products were detected.				CALM	Fusion	In order to determine the involvement of CALM-AF10 fusion transcripted in primary leukemias with t(10;11) and its chemotherapy sensitivity in vitro, the AF10-CALM fusion transcripts were detected by reverse transcription-polymerase chain reaction (RT-PCR), and the chemotherapy sensitivity testing in vitro was undergone by MTT assay in five t(10;11) leukemia samples from patients with ALL, AML and lymphoblastic lymphoma. The results showed that five different-sized AF10-CALM product and four different-sized CALM-AF10 products were detected.			
15381373	MLLT10	Mutation	Acute Lymphoblastic Leukemia	We report the case of an 11-month-old patient with a clinical diagnosis of infantile acute lymphoblastic leukemia and an MLL (11q23) rearrangement in 69% of nuclei, revealed with interphase fluorescence in situ hybridization (FISH). These both resulted in a large derivative chromosome 10 and transcription of an MLL/MLLT10 fusion product.				MLL	Fusion	hese both resulted in a large derivative chromosome 10 and transcription of an MLL/MLLT10 fusion product.			
15355694	MLLT10	Mutation	Acute Lymphoblastic Leukemia	Of the 50 childhood ALL patients, 18 (36.0%) carried 11 types of fusion genes including E2A/PBX1, TEL/AML1, TLS/ERG, MLL/AF4, MLL/AF9, MLL/AF10, MLL/AFX, MLL/AF6, MLL/ELL, TAL1D, and HOX11, revealed by multiplex RT-PCR, and in 48 cases, 24 (57.1%) had chromosome abnormalities.				MLL	Fusion	Of the 50 childhood ALL patients, 18 (36.0%) carried 11 types of fusion genes including E2A/PBX1, TEL/AML1, TLS/ERG, MLL/AF4, MLL/AF9, MLL/AF10, MLL/AFX, MLL/AF6, MLL/ELL, TAL1D, and HOX11, revealed by multiplex RT-PCR, and in 48 cases, 24 (57.1%) had chromosome abnormalities.			
15262427	MLLT10	Mutation	acute monoblastic Leukemia	We present two new pediatric cases (French-American-British type M5) with MLL-MLLT10 fusion, which we studied with fluorescence in situ hybridization.				MLL	Fusion	We present two new pediatric cases (French-American-British type M5) with MLL-MLLT10 fusion, which we studied with fluorescence in situ hybridization.			
14676124	MLLT10	Mutation	Pancreatic Neuroendocrine Neoplasm	Sixty-six transcripts were overexpressed > or =3-fold in PENs compared with normal islet cells, including putative oncogenes (MLLT10/AF10), growth factors [insulin-like growth factor-binding protein 3 (IGFBP3)], cell adhesion and migration molecules (fibronectin), and endothelial elements (MUC18/MelCAM and CD31).				MLL	Fusion	Sixty-six transcripts were overexpressed > or =3-fold in PENs compared with normal islet cells, including putative oncogenes (MLLT10/AF10), growth factors [insulin-like growth factor-binding protein 3 (IGFBP3)], cell adhesion and migration molecules (fibronectin), and endothelial elements (MUC18/MelCAM and CD31).			
12859878	MLLT10	Mutation	Leukemia	Of the 191 leukemic samples, 86 (45.0%) carried 14 types of fusion genes including SIL/TAL1, MLL/AF1q, E2A/PBX1, MLL/AF6, AML1/ETO, MLL/AF9, TEL/ABL, BCR/ABL, MLL/AF10, dupMLL, MLL/ENL, TEL/AML1, PML/RARalpha and CBFbeta/MYH11.				MLL	Fusion	Of the 191 leukemic samples, 86 (45.0%) carried 14 types of fusion genes including SIL/TAL1, MLL/AF1q, E2A/PBX1, MLL/AF6, AML1/ETO, MLL/AF9, TEL/ABL, BCR/ABL, MLL/AF10, dupMLL, MLL/ENL, TEL/AML1, PML/RARalpha and CBFbeta/MYH11.			
12676784	MLLT10	Mutation	T Acute Lymphoblastic Leukemia	CALM-AF10 is therefore the most common fusion protein in T-ALL.				CALM	Fusion	Twelve (9%) of 131 unselected T-cell acute lymphoid leukemias (T-ALLs) expressed CALM-AF10 by reverse transcription-polymerase chain reaction or fluorescence in situ hybridization (or both), including 8% of children and 10% of adults, of whom only half demonstrated a t(10;11) by classical cytogenetics.			
12461747	MLLT10	Mutation	Acute Myeloid Leukemia	We used panhandle PCR to determine that this rearrangement juxtaposed the MLL (Mixed-Lineage Leukemia) gene to the CALM (Clathrin Assembly Lymphoid Myeloid leukemia) gene at 11q14-q21. The CALM protein participates in recruitment of clathrin to internal membrane surfaces, thereby regulating vesicle formation in both endocytosis and intracellular protein transport. Intriguingly, CALM has been identified in other cases of AML as a translocation partner for the AF10 gene, which has independently been found to be an MLL partner in AML. We identified the MLL-CALM fusion transcript (but not the reciprocal CALM-MLL transcript) in leukemia cell RNA by RT-PCR.				MLL	Fusion	We used panhandle PCR to determine that this rearrangement juxtaposed the MLL (Mixed-Lineage Leukemia) gene to the CALM (Clathrin Assembly Lymphoid Myeloid leukemia) gene at 11q14-q21. The CALM protein participates in recruitment of clathrin to internal membrane surfaces, thereby regulating vesicle formation in both endocytosis and intracellular protein transport. Intriguingly, CALM has been identified in other cases of AML as a translocation partner for the AF10 gene, which has independently been found to be an MLL partner in AML. We identified the MLL-CALM fusion transcript (but not the reciprocal CALM-MLL transcript) in leukemia cell RNA by RT-PCR.			
12127405	MLLT10	Mutation	acute monocytic Leukemia	Fluorescence in situ hybridization (FISH) analysis in a case of infant acute monocytic leukemia M5 revealed a complex rearrangement between chromosomes 10 and 11, leading to the disruption of the MLL gene. Using two painting probes for chromosomes 10 and 11 and a specific probe for the MLL gene localized on 11q23, we observed a paracentric inversion of the 11q13-q23 fragment translocated to 10p12. Molecular analysis showed that AF10 localized on 10p12 was the fusion partner gene of MLL in this rearrangement (10;11).				MLL	Fusion	Fluorescence in situ hybridization (FISH) analysis in a case of infant acute monocytic leukemia M5 revealed a complex rearrangement between chromosomes 10 and 11, leading to the disruption of the MLL gene. Using two painting probes for chromosomes 10 and 11 and a specific probe for the MLL gene localized on 11q23, we observed a paracentric inversion of the 11q13-q23 fragment translocated to 10p12. Molecular analysis showed that AF10 localized on 10p12 was the fusion partner gene of MLL in this rearrangement (10;11).			
11911106	MLLT10	Mutation	Acute Myeloid Leukemia	To determine the incidence of the mixed lineage leukemia (MLL) gene rearrangements in acute myeloid leukemia (AML) without cytogenetically-detected 11q23 abnormalities, we screened 64 cases of AML at diagnosis for MLL rearrangement by FISH. One further case with a cytogenetic abnormality close to 11q23 was studied; it was found to have a t(10;11)(p13;q21), and the breakpoints were shown by FISH to involve the Clathrin Assembly Lymphoid Myeloid (CALM) gene at 11q21 and the AF10 gene at 10p13.				CALM	Fusion	To determine the incidence of the mixed lineage leukemia (MLL) gene rearrangements in acute myeloid leukemia (AML) without cytogenetically-detected 11q23 abnormalities, we screened 64 cases of AML at diagnosis for MLL rearrangement by FISH. One further case with a cytogenetic abnormality close to 11q23 was studied; it was found to have a t(10;11)(p13;q21), and the breakpoints were shown by FISH to involve the Clathrin Assembly Lymphoid Myeloid (CALM) gene at 11q21 and the AF10 gene at 10p13.			
11896537	MLLT10	Mutation	Acute Myeloid Leukemia	In this study, we describe a detailed molecular cytogenetic analysis of MLL-MLLT10 positive 10;11 rearrangements in two patients. We observed an as yet unreported chromosomal mechanism with at least four breakpoints, leading to MLL-MLLT10 gene fusion in a 24-year-old male.				MLL	Fusion	In this study, we describe a detailed molecular cytogenetic analysis of MLL-MLLT10 positive 10;11 rearrangements in two patients. We observed an as yet unreported chromosomal mechanism with at least four breakpoints, leading to MLL-MLLT10 gene fusion in a 24-year-old male.			
11477655	MLLT10	Mutation	Acute Leukemia 	To clarify the clinical features of t(10;11)-leukemias, we investigated 6 samples from acute leukemia patients with t(10;11) and MLL rearrangement and detected MLL-AF10 chimeric transcripts in 5 samples and MLL-ABI1 in one.				MLL	Fusion	To clarify the clinical features of t(10;11)-leukemias, we investigated 6 samples from acute leukemia patients with t(10;11) and MLL rearrangement and detected MLL-AF10 chimeric transcripts in 5 samples and MLL-ABI1 in one.			
11187895	MLLT10	Mutation	Leukemia	The MLL-AF10 fusion produced by the t(10;11)(p12;q23) or ins(10;11)(p12;q23q13) occurs in a small percentage of acute leukemias, most commonly acute myelogenous leukemia (AML) of the M5 FAB subtype. We report two cases of AML (M5a and M0) and one case of acute lymphoblastic leukemia containing MLL-AF10 fusion. Each case had varied clinical characteristics, despite expressing similar MLL-AF10 fusion transcripts. Including the three cases described in this report, we identified a total of 38 cases of leukemia with MLL-AF10 fusion.				MLL	Fusion	The MLL-AF10 fusion produced by the t(10;11)(p12;q23) or ins(10;11)(p12;q23q13) occurs in a small percentage of acute leukemias, most commonly acute myelogenous leukemia (AML) of the M5 FAB subtype. We report two cases of AML (M5a and M0) and one case of acute lymphoblastic leukemia containing MLL-AF10 fusion. Each case had varied clinical characteristics, despite expressing similar MLL-AF10 fusion transcripts. Including the three cases described in this report, we identified a total of 38 cases of leukemia with MLL-AF10 fusion.			
11106826	MLLT10	Mutation	acute eosinophilic Leukemia; T Acute Lymphoblastic Leukemia	A translocation (10;11)(p12;q14) was observed in two children, one with acute eosinophilic leukemia and the other with acute T-cell lymphoblastic leukemia. The presence of CALM-AF10 fusion was ascertained by reverse transcriptase-polymerase chain reaction (RT-PCR) analysis. Fluorescence in situ hybridization (FISH) analysis showed that AF10 gene splitting was associated with partial inversion of chromosome 11 in the first patient				CALM	Fusion	A translocation (10;11)(p12;q14) was observed in two children, one with acute eosinophilic leukemia and the other with acute T-cell lymphoblastic leukemia. The presence of CALM-AF10 fusion was ascertained by reverse transcriptase-polymerase chain reaction (RT-PCR) analysis. Fluorescence in situ hybridization (FISH) analysis showed that AF10 gene splitting was associated with partial inversion of chromosome 11 in the first patient			
10997963	MLLT10	Mutation	extramedullary Acute Myeloid Leukemia	A diagnosis of granulocytic sarcoma was made in a 2-year-old child based on the detection of myelomonocytic blasts in tissue obtained from a subcutaneous nodule with no evidence of concomitant disease in the bone marrow. The child responded to systemic chemotherapy and is in remission 3 years later. An identical clone with an in frame fusion of the MLL and AF10 genes was identified from both tissue and bone marrow samples.				MLL	Fusion	A diagnosis of granulocytic sarcoma was made in a 2-year-old child based on the detection of myelomonocytic blasts in tissue obtained from a subcutaneous nodule with no evidence of concomitant disease in the bone marrow. The child responded to systemic chemotherapy and is in remission 3 years later. An identical clone with an in frame fusion of the MLL and AF10 genes was identified from both tissue and bone marrow samples.			
10637483	MLLT10	Mutation	Lymphoid Leukemia; Myeloid Leukemia	In order to understand the relationship between MLL, AF10, CALM and the leukemic process, fluorescence in situ hybridization and reverse transcriptase polymerase chain reaction were used to study a series of nine leukemia patients with a t(10;11). Six had myeloid leukemia (AML-M0, AML-M1, AML-M4 and AML-M5) and three had T cell lymphoblastic leukemia. We identified four different CALM/AF10 fusion products in five patients and AF10/CALM reciprocal message in one. We conclude that fusion of CALM and AF10 is a recurring abnormality in both lymphoid and myeloid leukemias of various types including AML-M5, and that the breakpoints in the two types of leukemia do not differ.				CALM	Fusion	In order to understand the relationship between MLL, AF10, CALM and the leukemic process, fluorescence in situ hybridization and reverse transcriptase polymerase chain reaction were used to study a series of nine leukemia patients with a t(10;11). Six had myeloid leukemia (AML-M0, AML-M1, AML-M4 and AML-M5) and three had T cell lymphoblastic leukemia. We identified four different CALM/AF10 fusion products in five patients and AF10/CALM reciprocal message in one. We conclude that fusion of CALM and AF10 is a recurring abnormality in both lymphoid and myeloid leukemias of various types including AML-M5, and that the breakpoints in the two types of leukemia do not differ.			
10637482	MLLT10	Mutation	Acute Myeloid Leukemia	In this study we analyzed the CALM/AF10 and AF10/CALM fusion mRNAs in a series of three patients with AML, one patient with T-ALL and two patients with precusor T lymphoblastic lymphoma.				MLL	Fusion	In this study we analyzed the CALM/AF10 and AF10/CALM fusion mRNAs in a series of three patients with AML, one patient with T-ALL and two patients with precusor T lymphoblastic lymphoma.			
10221337	MLLT10	Mutation	Leukemia	We performed reverse transcription-polymerase chain reaction and sequencing analysis on the t(10;11) leukemia samples obtained from four patients and one cell line, and we identified reciprocal fusion transcripts of AF10 and CALM in all the samples.				CALM	Fusion	We performed reverse transcription-polymerase chain reaction and sequencing analysis on the t(10;11) leukemia samples obtained from four patients and one cell line, and we identified reciprocal fusion transcripts of AF10 and CALM in all the samples.			
10554802	MLLT10	Mutation	Leukemia	The CALM-AF10 fusion transcript was detected in all samples; however, the AF10-CALM fusion was not detected in two patient samples and one cell line. In RT-PCR analysis there were six isoforms of the CALM-AF10 fusion transcripts and five of AF10-CALM fusion transcripts. We also detected novel transcripts in U937. Sequence analysis revealed that all these isoforms had in-frame junctions and that some of them resulted from alternative splicing at different exons of CALM and others from different breakpoints at CALM and/or AF10. There were at least two different breakpoints of CALM and three of AF10 gene. Our results suggest that the CALM-AF10 fusion gene is a constant feature and is involved in the pathogenesis of haematological malignancies with t(10;11)(p13-14;q14-21), showing various and often multilineage phenotypes.				CALM	Fusion	The CALM-AF10 fusion transcript was detected in all samples; however, the AF10-CALM fusion was not detected in two patient samples and one cell line. In RT-PCR analysis there were six isoforms of the CALM-AF10 fusion transcripts and five of AF10-CALM fusion transcripts. We also detected novel transcripts in U937. Sequence analysis revealed that all these isoforms had in-frame junctions and that some of them resulted from alternative splicing at different exons of CALM and others from different breakpoints at CALM and/or AF10. There were at least two different breakpoints of CALM and three of AF10 gene. Our results suggest that the CALM-AF10 fusion gene is a constant feature and is involved in the pathogenesis of haematological malignancies with t(10;11)(p13-14;q14-21), showing various and often multilineage phenotypes.			
27449098	CBX7	Loss of Expression	Prostate Carcinoma	Tissue analysis showed association of CBX7 loss with advanced prostate cancer.	miR-375	Negative regulation	Integration of tissue and gene ontology data prioritized miR-375 targets and identified the tumor suppressor gene CBX7, a member of Polycomb repressive complex 1, as a major miR-375 target. MiR-375-mediated repression of CBX7 was accompanied by increased expression of its homolog CBX8 and activated transcriptional programs linked to malignant progression in prostate cancer cells.						
27326334	CBX7	Underexpression	Invasive Breast Carcinoma	We observed significant overexpression in IBCs of ANRIL (19.7%) and EZH2 (77.0%) and an underexpression of CBX7 (39.7%).				miRNAs	negative correlation	In addition, several miRNAs negatively associated with CBX7 underexpression and EZH2 overexpression.			
26216446	CBX7	Underexpression	Lung Carcinoma	Since CBX7 is drastically downregulated in human lung carcinomas, we investigated whether restoration of CBX7 expression could affect growth property of lung cancer cells and modulate their sensitivity to treatment with irinotecan and etoposide, two chemoterapy drugs most commonly used in lung cancer therapy.							phosphorylated EPK; phosphorylated p38	Negative regulation	Here, we demonstrate that restoration of CBX7 in two human lung carcinoma cell lines (A549 and H1299), in which this protein is not detectable, leads to a decreased proliferation (at least in part through a downregulation of phosphorylated ERK and phosphorylated p38) and an increased apoptotic cell death after drug exposure (at least in part through the downregulation of Bcl-2, phosphorylated Akt, and phosphorylated JNK).
26175930	CBX7	Loss of Expression; Underexpression	Malignant neoplasm	Apart from few exceptions, CBX7 expression is lost in human malignant neoplasias and a clear correlation between its downregulated expression and a cancer aggressiveness and poor prognosis has been observed.							Osteopontin; E-cadherin	Regulation	Consistently, CBX7 is able to differentially regulate crucial genes involved in cancer progression and in epithelial-mesenchymal transition, as osteopontin and E-cadherin
25881303	CBX7	Underexpression	Colon Carcinoma	Cbx7 is downregulated in CCs, and Cbx7 expression-low tumors correlated with lymph metastasis and poor overall survival of CC patients.									
25759796	CBX7	Underexpression; Loss of Expression	Hürthle adenoma	CBX7 expression was low or null in 68% of Hürthle adenomas, whereas it was comparable to normal thyroid tissue in Hürthle hyperplasias and follicular adenomas.									
25351982	CBX7	Underexpression	Breast Carcinoma	Taken together, these findings indicate that CBX7-mediated epigenetic induction of DKK-1 is crucial for the inhibition of breast tumorigenicity, suggesting that CBX7 could be a potential tumor suppressor in human breast cancer.				p300 acetyltransferase	Collaboration	In particular, CBX7 increased DKK-1 transcription by cooperating with p300 acetyltransferase and subsequently enhancing the histone acetylation of the DKK-1 promoter	 Wnt/β-catenin/T cell factor pathway; DKK-1	Negative regulation; positive regulation	We also found that CBX7 inhibits the Wnt/β-catenin/T cell factor pathway by enhancing the expression of Dickkopf-1 (DKK-1), a Wnt antagonist.
23502315	CBX7	Overexpression	Leukemia	Cbx7 is specifically expressed in haematopoietic stem cells (HSCs), and its overexpression enhances self-renewal and induces leukemia.				PRC1; H3K27me3	Binding	This effect is dependent on integration into polycomb repressive complex-1 (PRC1) and requires H3K27me3 binding			
22544325	CBX7	Loss of Expression	Lung Carcinoma	A similar mechanism is likely involved in human lung carcinogenesis, since cyclin E upregulation associated with the loss of CBX7 expression has been observed in most of the human lung carcinomas analyzed.				cyclin E	Negative correlation	A similar mechanism is likely involved in human lung carcinogenesis, since cyclin E upregulation associated with the loss of CBX7 expression has been observed in most of the human lung carcinomas analyzed.			
22214847	CBX7	Loss of Expression	Lung Carcinoma	Finally, we found that the lack of CBX7 protein expression in human lung carcinomas correlated with CCNE1 overexpression.							CCNE1	Negative regulation	In in vivo and in vitro experiments, we demonstrated that CBX7 bound to the CCNE1 promoter in a complex that included HDAC2 and negatively regulated CCNE1 expression.
22041561	CBX7	Underexpression	Colorectal Carcinoma; Gastric Carcinoma; Hepatocellular Carcinoma	Compared with the corresponding normal tissues, cbx7 expression was significantly downregulated in CRCs, GCs, and HCCs (t = -7.351, -5.417 and -6.680, respectively, P < 0.01).									
20723236	CBX7	Overexpression	Gastric Carcinoma; Gastric Neoplasm	CBX7 was found to be overexpressed in gastric cancer cell lines and gastric tumors.							p16	Negative regulation	Knockdown of CBX7 expression in gastric cancer cells led to increased cellular senescence, decreased cellular proliferation and migration ability, accompanied by upregulation of p16(INK4a).
20542683	CBX7	Underexpression; Loss of Expression	Colorectal Carcinoma	CBX7 expression is reduced or absent in a significant number of CRC samples in comparison to the normal colonic mucosa and the loss of CBX7 expression correlates with a poor outcome of CRC (p<0.001).									
20541999	CBX7	Overexpression	Prostate Carcinoma	Here we report that chromobox 7 (CBX7) within the polycomb repressive complex 1 binds to ANRIL, and both CBX7 and ANRIL are found at elevated levels in prostate cancer tissues.				ANRLL	Binding	Here we report that chromobox 7 (CBX7) within the polycomb repressive complex 1 binds to ANRIL, and both CBX7 and ANRIL are found at elevated levels in prostate cancer tissues.	INK4b; ARF; INK4a	Negative regulation	The antisense noncoding RNA ANRIL of the INK4b/ARF/INK4a locus is also important for expression of the protein-coding genes in cis, but its mechanism has remained elusive. Here we report that chromobox 7 (CBX7) within the polycomb repressive complex 1 binds to ANRIL, and both CBX7 and ANRIL are found at elevated levels in prostate cancer tissues. In concert with H3K27me recognition, binding to RNA contributes to CBX7 function, and disruption of either interaction impacts the ability of CBX7 to repress the INK4b/ARF/INK4a locus and control senescence.
21779448	CBX7	Underexpression	Breast Carcinoma	Among the microRNAs induced by HMGA1, we focused on miR-181b, which was overexpressed in several malignant neoplasias including breast carcinomas. We show that miR-181b regulates CBX7 protein levels, which are down-regulated in cancer, and promotes cell cycle progression.	HMGA	Negative regulation	We also demonstrate that CBX7, being negatively regulated by HMGA, is able to negatively regulate miR-181b expression.						
20185297	CBX7	Underexpression; Loss of Expression	Invasive Ductal Carcinoma; Pancreatic Adenocarcinoma	A significantly differential, and progressively decreasing CBX7 protein expression was found between normal pancreatic tissue, PanINs and invasive ductal adenocarcinoma. Loss of CBX7 expression was associated with increasing malignancy grade in pancreatic adenocarcinoma, whereas the maintenance of CBX7 expression showed a trend toward a longer survival.							E-cadherin	Positive regulation	Expression of E-cadherin, a protein positively regulated by CBX7, was also assessed.
18984978	CBX7	Underexpression	Bladder Urothelial Carcinoma	Expression levels of CBX7 inversely correlate with the progression of tumor stage and grade in urothelial carcinomas of the bladder, suggesting that downregulation of CBX7 indicates aggressive urothelial carcinoma phenotype.									
18701502	CBX7	Underexpression	Thyroid Gland Carcinoma	Using gene expression profiling, we found that the CBX7 gene was drastically down-regulated in six thyroid carcinoma cell lines versus control cells.									
18686603	CBX7	Underexpression	Glioma	No obvious difference in the CBX7 mRNA level between normal and tumor tissues was observed, while the protein level of CBX7 was abrogated or markedly reduced in glioma tissues and cell lines.	miR-9	negative regulation	In human glioma, CBX7 is down-regulated by the inhibition of miR-9 at posttranscriptional level.						
17374722	CBX7	Overexpression	Follicular Lymphoma	CBX7 was expressed at high levels in germinal center lymphocytes and germinal center-derived follicular lymphomas, where elevated expression correlated with high c-Myc expression and a more advanced tumor grade.							Ink4a/Arf	negative regulation	Furthermore, Cbx7 repressed transcription from the Ink4a/Arf locus and acted epistatically to the Arf-p53 pathway during tumorigenesis.
15897876	CBX7	Overexpression	Prostate Carcinoma	CBX7 was highly expressed in three different prostate cancer cell lines and present at elevated levels in normal prostate.				c-Myc	Collaboration	Moreover, CBX7 expression cooperated with c-Myc in rendering LNCaP cells insensitive to growth arrest by androgen receptor inhibition.	p16Ink4a; p14Arf	Negative regulation	Ablation of CBX7 expression using short hairpin RNAs (shRNA) resulted in upregulation of p16Ink4a and p14Arf in both LNCaP and PC-3 prostate cell lines.
27346616	CLOCK	Underexpression	Breast Carcinoma	The major findings from human studies indicate that expression of circadian genes is deregulated in breast cancer. Breast cancer etiology and prognosis-associated PERs, CRYs, CLOCK downregulation, and TIMELESS upregulation may be related to relevant gene methylation in tumor tissue.									
27079271	CLOCK	altered expression	Tongue Carcinoma	In the in vitro systems, SCC9 tongue cancer cells displayed rhythmic expression of PFKFB3 and CLOCK that was distinct from control KC cells.							PFKFB3	Positive regulation	Furthermore, PFKFB3 expression in SCC9 cells was stimulated by CLOCK through binding and enhancing the transcription activity of PFKFB3 promoter.
25622901	CLOCK	Overexpression	Hepatocellular Carcinoma	Moreover, immunohistochemistry staining and quantitative real-time polymerase chain reaction validated that the levels of CLOCK were elevated in HCC tissues, and the expression levels of HULC were positively associated with those of CLOCK in clinical HCC samples.	HULC	Positive regulation	Taken together, our data show that an lncRNA, HULC, is responsible for the perturbations in circadian rhythm through upregulating circadian oscillator CLOCK in hepatoma cells, resulting in the promotion of hepatocarcinogenesis.						
25485508	CLOCK	Loss of Expression	Breast Carcinoma	Stratification according to molecular subtype revealed prognostic relevance for PER1, PER3, CRY2 and NFIL3 in the ER+/HER2- subgroup, CLOCK and NPAS2 in the ER-/HER2- subtype, and ARNTL2 in HER2+ breast cancer. In conclusion, loss of clock genes is associated with worse prognosis in breast cancer. 									
25229211	CLOCK	SNP	Breast Carcinoma	In the subgroup of shift workers, rare homozygotes for rs10462028 in the CLOCK gene had an elevated risk of breast cancer (OR for AA vs. GG: 3.53; 95% CI 1.09-11.42).									
24789043	CLOCK	Overexpression	Breast Carcinoma	Immunohistochemical analysis of human breast tumor samples revealed high expression of CLOCK in ERα-positive breast tumor samples.	E2; ERα	Positive regulation	Subsequent experiments using ERα-positive human breast cancer cell lines showed that both protein and mRNA levels of CLOCK were up-regulated by E2 and ERα.						
24135790	CLOCK	SNP	Oligodendroglioma	The variant allele for CLOCK rs11133391 under a recessive model increased risk of oligodendroglioma (OR 2.41; 95% CI 1.31-4.42; p=0.005), though not other glioma subtypes (p for heterogeneity=0.0033).									
23970287	CLOCK	Overexpression	Colorectal Carcinoma	Higher levels of hCLOCK expression were observed in human CRC tissues compared with the paired non-cancerous tissues.				ARNT; HIF-1α; VEGF	Positive correlation	A strong positive linear correlation was also found between hClock gene expression and ARNT, HIF-1α and VEGF expression in human CRCs.			
23822714	CLOCK	SNP	Breast Carcinoma	In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477).									
23792158	CLOCK	Overexpression	Glioma	Here we show that the expression level of CLOCK is significantly increased in high-grade human glioma tissues and glioblastoma cell lines.	miR-124	Negative regulation	Further studies show that Clock is a direct target of miR-124, and either restoration of miR-124 or silencing of CLOCK can reduce the activation of NF-κB.				NF-κB	Positive regulation	In conclusion, we suggest that as a target of glioma suppressor miR-124, CLOCK positively regulates glioma proliferation and migration by reinforcing NF-κB activity.
23784787	CLOCK	Underexpression	Head and Neck Squamous Cell Carcinoma	All the 9 CCGs were significantly downregulated in the PB of preoperative patients (p < .0001). Recovery of PER1 and CLOCK expression was observed in postoperative patients with good prognosis but not in patients that died within 1 year after surgery.									
23254314	CLOCK	Underexpression	Pancreatic Ductal Adenocarcinoma	In the tumor tissue of PDA patients, compared to their matched adjacent tissue, expression levels of all circadian genes were lower, with statistical significance for Per1, Per2, Per3, Cry1, Cry2, Tipin, Tim, CK1ε, Bmal-ARNTL, and Clock (p<0.025).									
22905804	CLOCK	altered expression	Glioma	Using reverse transcription polymerase chain reaction and immunohistochemistry techniques, we examined the expression of the most important clock genes, clock, in 67 gliomas.Our results revealed that asynchronized expression of the clock gene was found in cancerous tissues in comparison with paired non-cancerous tissues. The intensity of immunoactivity for Clock in highgrade gliomas was significantly higher than that of low-grade gliomas (r =-0.403, P50.012,< 0.05), non-tumor tissues around high-grade gliomas (r =-0.376, P =0.027< 0.05), while there was no difference in the intensity of immunoactivity for Clock between low-grade gliomas and the surrounding non-tumor tissues (P >0.05).									
21773969	CLOCK	Polymorphism	Colorectal Carcinoma	The results suggest for the first time that CLOCK gene polymorphisms may serve as an independent prognostic marker for CRC patients.									
21454294	CLOCK	altered expression	Chronic Myeloid Leukemia	The expression of CLOCK and TIM did not show a time-dependent variation among the healthy and patients with CML.									
21380491	CLOCK	Overexpression	Colorectal Carcinoma	Expression of the Clock gene and the CKIε gene in cancer tissue were significantly higher compared to that in adjacent normal mucosa.									
20978934	CLOCK	Polymorphism	Breast Carcinoma	Univariate logistic regression analysis showed that polymorphisms of the CLOCK and CRY1 genes were associated with breast cancer risk.									
20551151	CLOCK	Mutation	Colorectal Carcinoma	CLOCK mutations occurred in 53% of MSI CRCs.									
20524973	CLOCK	Underexpression	Prostate Carcinoma	We found that Clock and Per2 protein levels were downregulated whereas Bmal1 protein levels were upregulated in PCa cells, compared to normal prostate cells.									
20124474	CLOCK	overexpression (hypomethylation)	Breast Carcinoma	We also found that hypermethylation in the CLOCK promoter reduced the risk of breast cancer, and lower levels of CLOCK expression were documented in healthy controls relative to normal or tumor tissue from patients with breast cancer.									
19934327	CLOCK	SNP	Prostate Carcinoma	Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER1; rs7602358 in PER2; rs1012477 in PER3; rs1534891 in CSNK1E; rs12315175 in CRY1; rs2292912 in CRY2; rs7950226 in ARNTL; rs11133373 in CLOCK; and rs1369481, rs895521, and rs17024926 in NPAS2) was significantly associated with susceptibility to prostate cancer (either overall risk or risk of aggressive disease), and the risk estimate for four SNPs in three genes (rs885747 and rs2289591 in PER1, rs1012477 in PER3, and rs11133373 in CLOCK) varied by disease aggressiveness									
19296127	CLOCK	altered expression 	Breast Carcinoma	Heterogeneous expression of CLOCK is associated significantly with 3-year survival. In conclusion, the expression pattern of circadian genes might be a biomarker for the prognosis of breast cancer.									
19148895	CLOCK	Overexpression	Colorectal Carcinoma	Expression of CLOCK was significantly elevated in G(2) tumors of male patients (1.63-fold, P = 0.01).									
27635108	KDM5B	Overexpression	Colorectal Carcinoma	We report that 6 out of 18 (33%) CTAs tested (MAGEA3, OIP5, TTK, PLU1, DKKL1, and FBXO39) were significantly (p < 0.05) overexpressed in tumor tissue compared with healthy colon samples isolated from the same patients.									
27246838	KDM5B	Overexpression	Glioma	In addition, RT-PCR, western blot analysis and immunohistochemical analysis were performed using glioma tissue samples and the results revealed that JARID1B expression increased according to the histological grade of glioma.									
26917489	KDM5B	Overexpression	Triple-Negative Breast Carcinoma	Increased expression of KDM5B correlating with disease progression and poor clinical outcome in breast cancer was reversed by hsa-miR-448.	has-miR-448	Negative regulation	Our findings demonstrate the critical role of KDM5B and its negative regulator hsa-miR-448 in TNBC metastasis and progression. Hsa-miR-448 disrupting KDM5B-MALAT1 signalling axis and associated activities in TNBC cells, projects it as a putative therapeutic factor for selective eradication of TNBC cells.						
26911146	KDM5B	Overexpression	Hepatocellular Carcinoma	KDM5B is frequently up-regulated in HCC specimens compared with adjacent normal tissues and its expression level was significantly correlated with tumor size, TNM stage, and Edmondson grade.							p15; p27	negative regulation	Knockdown of KDM5B notably inhibits HCC cell proliferation both in vivo and in vitro via arresting the cell cycle at G1/S phase partly through up-regulation of p15 and p27.
26655717	KDM5B	Overexpression	Leukemia	In leukemia, JARID1B is overexpressed, and its inhibition results in cellular growth arrest.	Ikaros-HDAC1 complex	Negative regulation	Ikaros-mediated repression of JARID1B in leukemia is impaired by pro-oncogenic casein kinase 2 (CK2). Inhibition of CK2 results in increased binding of the Ikaros-HDAC1 complex to the promoter of JARID1B, with increased formation of trimethylated histone H3 lysine 27 and decreased histone H3 Lys-9 acetylation.						
26184998	KDM5B	Overexpression	Oral Squamous Cell Carcinoma	JARID1B overexpression is a dependent prognostic factor in OSCC patients.									
26131109	KDM5B	Overexpression	Prostate Carcinoma	KDM5B was highly expressed in PCa cancer cells.	miR29a	Negative regulation	Moreover, the enforced expression of miR-29a in PC-3 and LNCaP cells inhibited proliferation, and induced apoptosis by repressing the expression of KDM5B.						
26125737	KDM5B	Overexpression	invasive ductal carcinoma	The positive staining rate of JARID1B/KDM5B and p16 protein in cancer tissue was 74.43 and 35.8%, respectively. JARID1B/KDM5B protein expression was positively associated with T grade, Bloom and Richardson (B&R) score and axillary lymph node metastasis (P < 0.05).				p16	Negative correlation	JARID1B/KDM5B and p16 protein expression in breast cancer and adjacent normal breast tissue were negatively correlated (r = -0.303, P < 0.001).			
25909289	KDM5B	Overexpression	Hepatocellular Carcinoma	Here we show that JARID1B is elevated in HCC and its expression level is positively correlated with metastasis.							PTEN	negative regulation	Mechanistically, we found JARID1B exerts its function through modulation of H3K4me3 at the PTEN gene promoter, which was associated with inactive PTEN transcription. PTEN overexpression blocked JARID1B-driven proliferation, EMT, and metastasis.
25877751	KDM5B	Overexpression	Lung Carcinoma	In present study, we found that JARID1B was overexpressed in lung cancer cell lines and lung cancer tissues but not in normal lung tissues.							p53	Negative regulation	Overexpressed JARID1B cell exhibited greatly decreased p53 expression, whereas silencing of JARID1B expression dramatically increased p53 expression at both the messenger RNA (mRNA) and protein levels.
25777981	KDM5B	Overexpression	HHead and Neck Squamous Cell Carcinoma	In the present study, we found that PLU-1/JARID1B mRNA was upregulated in all tested HNSCC cell lines.				Ki-67	Positive correlation	A positive association was observed between high PLU-1/JARID1B expression and higher Ki-67 labeling in the HNSCC samples (Pearson r=0.6514, P=0.0003).			
25755704	KDM5B	Overexpression	mantle cell Lymphoma	We demonstrated that JARID1B was upregulated and histone tri-methylated H3K4 was downregulated in MCL compared to proliferative lymphadenitis, P < 0.05.							Cyclin D1	Positive regulation	Interestingly, depletion of JARID1B inhibits Cyclin D1, which is one of the genes contributes to MCL pathogenesis.
25663457	KDM5B	Overexpression	Ovarian Carcinoma	JARID1B level was significantly increased in EOC, as compared to normal ovaries and BOT.									
25628922	KDM5B	Overexpression	Gastric Carcinoma	In clinical gastric cancer samples, we found that KDM5B expression was significantly up-regulated in cancer lesions compared with paired normal gastric tissues.									
25450384	KDM5B	Overexpression	Glioma	In clinical glioma samples, we found that KDM5B expression was significantly upregulated in cancer lesions compared with normal brain tissues.									
24937458	KDM5B	Overexpression (copy number gain)	Breast Neoplasm	Here, we show that JARID1B, encoding a histone H3 lysine 4 (H3K4) demethylase, is frequently amplified and overexpressed in luminal breast tumors and a somatic mutation in a basal-like breast cancer results in the gain of unique chromatin binding and luminal expression and splicing patterns.									
23579952	KDM5B	Overexpression	Bladder Carcinoma	Connexin 26 (Cx26) expression is down-regulated and KDM5B (H3K4 demethylase) is up-regulated in the progression of bladder cancer, suggesting that Cx26 expression may be down-regulated by KDM5B in bladder cancer.							Cx26	Negative regulation	Connexin 26 (Cx26) expression is down-regulated and KDM5B (H3K4 demethylase) is up-regulated in the progression of bladder cancer, suggesting that Cx26 expression may be down-regulated by KDM5B in bladder cancer.
23408432	KDM5B	Overexpression	Breast Carcinoma; Prostate Carcinoma; Lung Carcinoma	JARID1B is overexpressed in several cancers, including breast cancer, prostate cancer, and lung cancer.									
23262439	KDM5B	Overexpression	Melanoma	Contrary to earlier reports, this study shows enhanced expression of JARID1B by melanoma cells and indicates that such an enhancement may be an early event in the disease progression, is not correlated with melanoma invasiveness, and therefore may not be a suitable candidate as a prognostic marker.									
22669717	KDM5B	Overexpression	Uveal Melanoma	This study demonstrates that JARID1B is expressed by UM cells. Despite that JARID1B was highly expressed in UM, a statistically significant association (P < 0.05) between JARID1B expression and OS could not be obtained.									
22534467	KDM5B	Overexpression	Esophageal Squamous Cell Carcinoma	Our results showed that JARID1B and PHF2 were overexpressed in ESCCs.									
22371483	KDM5B	Overexpression	Breast Carcinoma	Overexpression of all three proteins resulted in forced S-phase entry and attenuation of checkpoint activation, even in the presence of chemotherapy drugs. Since each protein has been linked to poor prognosis in breast cancer, our findings suggest that the TFAP2C-Myc-KDM5B complex promotes cell cycle progression via direct CDKN1A repression, thereby contributing to tumorigenesis and therapy failure.				TFAP2C; Myc	Binding	Overexpression of all three proteins resulted in forced S-phase entry and attenuation of checkpoint activation, even in the presence of chemotherapy drugs. Since each protein has been linked to poor prognosis in breast cancer, our findings suggest that the TFAP2C-Myc-KDM5B complex promotes cell cycle progression via direct CDKN1A repression, thereby contributing to tumorigenesis and therapy failure.	CDKN1A	Negative regulation	Overexpression of all three proteins resulted in forced S-phase entry and attenuation of checkpoint activation, even in the presence of chemotherapy drugs. Since each protein has been linked to poor prognosis in breast cancer, our findings suggest that the TFAP2C-Myc-KDM5B complex promotes cell cycle progression via direct CDKN1A repression, thereby contributing to tumorigenesis and therapy failure.
22120715	KDM5B	Overexpression	Prostate Carcinoma	Our results show that the KDMs JARID1B, PHF8, KDM3A, KDM3B and KDM4A were highly expressed in clinical PrCa samples.									
21369698	KDM5B	Overexpression	Breast Carcinoma	JARID1B is widely expressed in ER+ breast cancers and breast cancer cell lines, and interaction with ERα was demonstrated by co-immunoprecipitations in cells transfected with tagged ERα and JARID1B genes									
20863814	KDM5B	Underexpression	Melanoma	Notably, both TIEG1 and JARID1B are downregulated in melanomas, suggesting that they indeed cooperate physiologically.				TIEG1	Collaboration	Thus, TIEG1 and JARID1B may cooperate to suppress tumorigenesis by enhancing TGF-β signaling.	Smad7; TGF-β signaling	Negative regulation	Conversely, JARID1B knock-down leads to increased Smad7 mRNA levels. Thus, TIEG1 and JARID1B may cooperate to suppress tumorigenesis by enhancing TGF-β signaling.
20726502	KDM5B	Overexpression	B cell malignancy; T cell malignancy	Our extensive analysis revealed multiple CT transcripts exhibiting widespread expression across cell lines derived from 21 B- and 4 T-cell malignancies. The broadest mRNA expression profiles were observed for the following eight CT genes: Sp17 (25/25), PRAME (25/25), CSAGE (24/25), PASD1 (22/25), CAGE/DDX53 (19/25), CTAGE1 (19/25), HAGE/DDX43 (16/25) and PLU-1/JARID1B (15/25).									
20226085	KDM5B	Overexpression	Bladder Carcinoma	Quantitative RT-PCR analysis confirmed that expression levels of KDM5B are significantly higher in human bladder cancer tissues than in their corresponding non-neoplastic bladder tissues (P < 0.0001).							E2F1; E2F2	Regulation	Microarray expression analysis indicated that E2F1 and E2F2 are downstream genes in the KDM5B pathway.
18048344	KDM5B	Overexpression	Prostate Carcinoma	Furthermore, we found that JARID1B is up-regulated in prostate cancer tissues, compared with benign prostate samples.							AR	regulation	We also demonstrated that JARID1B associates with androgen receptor and regulates its transcriptional activity.
17973255	KDM5B	Loss of Expression	Melanoma	The RBP2-H1/JARID1B nuclear protein belongs to the ARID family of DNA-binding proteins and is a potential tumor suppressor that is lost during melanoma development.									
15803180	KDM5B	Loss of Expression	Malignant melonoma	We conclude that loss of RBP2-H1 is a common finding in the progression of malignant melanomas.				pRb	Collaboration	Since a direct interaction of RBP2-H1 and pRb seems possible, the loss of RBP2-H1 may possibly contribute to uncontrolled growth in malignant melanomas.			
12237901	KDM5B	Overexpression	Breast Carcinoma	The PLU-1 gene is expressed at the level of message in breast cancers and breast cancer cell lines and shows restricted expression in normal adult tissues with the exception of testis.									
10336460	KDM5B	Overexpression	Breast Carcinoma	Although expression of PLU-1 in ce-1 cells is regulated by signaling from c-ErbB2, the gene is expressed in all the breast cancer cell lines examined, in cells cultured from primary breast cancers, and in the invasive and in situ components of primary breast cancers.	c-ErbB2	regulation	Although expression of PLU-1 in ce-1 cells is regulated by signaling from c-ErbB2, the gene is expressed in all the breast cancer cell lines examined, in cells cultured from primary breast cancers, and in the invasive and in situ components of primary breast cancers.						
26943038	CHD5	Underexpression (hypermethylation); Loss of Expression (hypermethylation)	Renal Cell Carcinoma	We found that CHD5 was broadly expressed in most normal genitourinary tissues including kidney, but frequently silenced or downregulated by promoter CpG methylation in 78% of RCC cell lines and 44% (24/55) of primary tumors.							MYC; MDM2; STAT; CCND1; YAP1	Negative regulation	Moreover, we found that CHD5, as a chromatin remodeling factor, suppressed the expression of multiple targets including oncogenes (MYC, MDM2, STAT3, CCND1, YAP1), epigenetic master genes (Bmi-1, EZH2, JMJD2C), as well as epithelial-mesenchymal transition and stem cell markers (SNAI1, FN1, OCT4).
26753653	CHD5	Underexpression (hypermethylation)	Adenoma; Colorectal Carcinoma	Results revealed that the expression rate of CHD5 methylation in 40 normal mucosal tissues, para-carcinoma tissues, adenoma tissues and CRC tissues was 12.5% (5/40), 22.5% (9/40), 47.5% (19/40) and 72.5% (33/40), respectively. The mRNA expression of CHD5 in the above tissues was 0.225±0.276, 0.169±0.231, 0.147±0.159 and 0.013±0.011 and the protein expression of CHD5 was 0.438±0.205, 0.398±0.180, 0.156±0.1 and 0.024±0.311, respectively. Methylation rate of CHD5 was 87% (20/23) in 23 cases of CHD5 protein loss expression and 52.9% (9/17) in 17 cases of CHD5 protein expression. Results of chi-squared test indicated that there was a significant difference in methylation rate (P less than 0.05), that is, the methylation rate of negatively expressed CHD5 protein was obviously higher than positively expressed protein.									
26625313	CHD5	altered expression 	Bladder Carcinoma	We uncovered that MLL, EP400, PRDM2, ANK3 and CHD5 exclusively altered in recurrent BCs.									
26517514	CHD5	Loss of expression (hypermethylation)	Hepatocellular Carcinoma	In the present study, we demonstrated that reduced levels of CHD5 in hepatocellular carcinoma (HCC) tissues were significantly associated with metastasis and poor prognosis. Gain-of-function assays revealed that CHD5 suppressed motility and invasion of HCC cells. Subsequent investigations showed that CHD5 was epigenetically silenced by polycomb repressive complex 2 (PRC2)-mediated the trimethylation of histone H3 at lysine 27 (H3K27me3) in HCC cells.				EZH2	mutual exclusive 	Chromatin immunoprecipitation and luciferase reporter assays also showed that CHD5 and EZH2 bind to each other's promoters and inhibit transcription.			
26245651	CHD5	Underexpression	Hepatocellular Carcinoma	CHD5 was downregulated in HCC tissues and cell lines and the expression level of CHD5 was inversely correlated with the expression of miR-454 in HCC tissues.				miR-454	Negative correlation	CHD5 was downregulated in HCC tissues and cell lines and the expression level of CHD5 was inversely correlated with the expression of miR-454 in HCC tissues.			
25825869	CHD5	Mutation	Neuroblastoma	CHD5 (chromodomain helicase DNA-binding protein 5) is a tumour suppressor gene (TSG) that maps to a region of consistent deletion on 1p36.31in neuroblastomas (NBs) and other tumour types.									
25247294	CHD5	Loss of Expression	Neuroblastoma	Loss of the chromatin remodeling ATPase CHD5 has been linked to the progression of neuroblastoma tumors, yet the underlying mechanisms behind the tumor suppressor role of CHD5 are unknown.				NuRD; CHD4/NuRD	Binding; mutually exclusive	In this study, we purified the human CHD5 complex and found that CHD5 is a component of the full NuRD transcriptional repressor complex, which also contains methyl-CpG binding proteins and histone deacetylase. The CHD5/NuRD complex appears mutually exclusive with the related CHD4/NuRD complex as overexpression of CHD5 results in loss of the CHD4 protein in cells.	WEE1	Negative regulation	Reintroduction of CHD5 into neuroblastoma cells represses WEE1 expression, demonstrating that CHD5 can function as a repressor in cells.
24529164	CHD5	Underexpression (hypermethylation)	Hepatocellular Carcinoma	CHD5 expression was sinificantly down-regulated in HCC cell lines and tissues examined, and the -841 to -470 region of CHD5 promoter was hypermethylated in these samples.									
24454811	CHD5	Underexpression (hypermethylation)	Leukemia	In this study, quantitative reverse-transcriptase polymerase chain reaction and western blotting analyses revealed that CHD5 was down-regulated in human leukemia cell lines and samples. Thus, CHD5 expression was inversely correlated with promoter DNA methylation in these samples.									
24419087	CHD5	Copy Number Loss	Neuroblastoma; Breast Carcinoma; Colon Carcinoma; Lung Carcinoma; Ovarian Carcinomaa; Prostate Carcinoma	CHD5 was first identified because of its location on 1p36 in a region of frequent deletion in neuroblastomas. Evidence soon emerged that CHD5 also functioned as a TSG in gliomas and a variety of other tumor types, including breast, colon, lung, ovary, and prostate cancers.				NuRD	Binding	CHD5 (chromodomain-helicase-DNA-binding-5) is the fifth member of a family of chromatin remodeling proteins, and it probably functions by forming a nucleosome remodeling and deacetylation (NuRD) complex that regulates transcription of particular genes.			
24276239	CHD5	Underexpression; Loss of Expression	Pancreatic Carcinoma	CHD5 depletion and low CHD5 expression in human pancreatic cancer cells lead to increased H2AX-Ser139 and CHK2-Thr68 phosphorylation and accumulation into nuclear foci.							H2AX-Ser139 phosphorylation; CHK2-Thr68	Positive regulation	CHD5 depletion and low CHD5 expression in human pancreatic cancer cells lead to increased H2AX-Ser139 and CHK2-Thr68 phosphorylation and accumulation into nuclear foci.
24243398	CHD5	Loss of Expression (hypermethylation)	Adenoma	In most adenoma samples, CHD5 expression was not detected in contrast to normal tissues. In RKO cells, CHD5 silencing was associated with DNA methylation and repressive histone modifications.									
23707602	CHD5	Underexpression	Glioma	Genetic and protein expression of CHD5 were downregulated in glioma tissues compared to corresponding non-neoplastic brain tissues (both p<0.001).									
22910690	CHD5	SNP	Ovarian Carcinoma	Associations were observed for 3 SNPs in the CHD5 gene: rs1883603 (OR 1.31, 95% CI 1.00-1.71), rs9434741 (OR 1.41, 95% CI 1.16-1.71) and rs17436816 (OR 1.24, 95% CI 1.02-1.50).									
22855185	CHD5	Underexpression	Gallbladder Carcinoma	The expression levels of CHD5 mRNA and protein in PGC tissues were both significantly lower than those in the normal epithelium of the gallbladder (mRNA: P = 0.006; protein: P = 0.01).									
22569290	CHD5	Mutation; Underexpression (hypermethylation)	Breast Carcinoma	Although only one mutation was detected, CHD5 mRNA expression was significantly reduced, accompanied by frequent genomic deletion and promoter methylation, in breast cancer.							vimentin; N-cadherin; ZEB1	Negative regulation	Consistent with the inhibition of invasion, CHD5 down-regulated mesenchymal markers vimentin, N-cadherin and ZEB1 in breast cancer cells.
22294723	CHD5	Mutation; Loss of Expression (hypermethylation); Deletion; Underexpression (hypermethylation)	Neuroblastoma	We conclude that (i) somatically acquired CHD5 mutations are rare in primary NBs, so inactivation probably occurs by deletion and epigenetic silencing; (ii) CHD5 expression and promoter methylation are associated with MYCN amplification, suggesting a possible interaction between these 2 genes; and (iii) high CHD5 expression is strongly correlated with favorable clinical/biological features and outcome.									
22186629	CHD5	Underexpression (hypermethylation); Loss of Expression (hypermethylation)	Lung Carcinoma	CHD5 expression ranged from low to absent in the lung cancer cell lines and tissues examined; the CHD5 promoter was hyperethylated in these samples.									
21860208	CHD5	Underexpression	Ovarian Carcinoma	CHD5 expression was downregulated by at least twofold in 32 of 72 (41%) invasive epithelial ovarian carcinomas when compared to 12 controls in Hong Kong Chinese women.									
21636313	CHD5	Underexpression	Laryngeal Squamous Cell Carcinoma	Our results revealed that the mRNA and protein expression levels of CHD5 in LSCC tissues were significantly lower than those in clear surgical margin tissues (p<0.05), and there is a significant correlation between the mRNA and protein expression levels of CHD5 (p<0.01).									
21250965	CHD5	SNP	Cutaneous Melanoma	The CHD5 gene was not excluded by linkage analysis in any of the families. On SNP genotyping, the CHD5 rs7513548 SNP was found to be significantly associated with sporadic melanoma (odds ratio 1·53, 95% confidence interval 1·13-2·06). The AG genotype was found in 208 cases and 169 controls (cf. 141 and 175 cases and controls, respectively, for the AA genotype). On CHD5 mutation screening, a total of 50 single-base substitutions were detected.									
21147910	CHD5	Mutation	Prostate Carcinoma	Furthermore, targeted mutational analysis of normal-tumor pairs has identified somatic mutations in genes known to be associated with prostate cancer including AR and TP53, but has also revealed novel somatic point mutations in genes including MTOR, BRCA2, ARHGEF12, and CHD5.									
20950435	CHD5	altered expression 	Neuroblastoma	 An immunohistochemical analysis of 90 primary NTs highlighted a strong association of CHD5 expression with favorable prognostic variables (age at diagnosis <12 months, low clinical stage, and favorable histology; P < 0.001 for all), overall survival (OS) (P < 0.001) and event-free survival (EFS) (P < 0.001).									
19840376	CHD5	Underexpression (hypermethylation)	Gastric Carcinoma	CHD5 expression was down-regulated in all of gastric cancer cell lines used (100%, 7/7) and significantly restored after pharmacological demethylation.									
19750230	CHD5	Hypermethylation	Colorectal Carcinoma	A significantly higher methylation rate was found for GPNMB, ICAM5, and CHD5 genes in AA patients compared to Iranians.									
18953434	CHD5	Mutation	Ovarian Carcinoma; Breast Carcinoma	We analyzed all 41 coding exons of CHD5 for somatic mutations in 123 primary ovarian cancers as well as 60 primary breast cancers using high-resolution melt analysis.									
18698156	CHD5	Loss of Expression (hypermethylation)	Glioma; Breast Carcinoma	For all CHDs, CpG island hypermethylation was only observed at the CHD5 promoter in human cancer cell lines and primary tumors, particularly gliomas and colon and breast carcinomas. RT-qPCR analyses correlated CHD5 Loss of expression with hypermethylation of the promoter, and restoration of CHD5 mRNA levels upon treatment with a DNA demethylating agent.									
18672103	CHD5	Mutation	Neuroblastoma	Among the best candidate genes predisposing to the development of neuroblastoma located in 1p36, the AJAP1 gene is the only gene present in the duplication while CHD5, TNFRSF25 and CAMTA1 are located outside of the rearrangement. Therefore, a gene-dosage effect involving a gene located in the duplication including AJAP1 might explain the neuroblastoma observed in our patient. The rearrangement might equally interfere with the expression of a gene located outside of it (including CHD5 located 1Mb away from the rearrangement) playing a role in the tumorigenesis.									
18577749	CHD5	Underexpression (hypermethylation); Loss of Expression (hypermethylation); copy number loss	Neuroblastoma	CHD5 expression was very low or absent in neuroblastoma cell lines. The CHD5 promoter was highly methylated in NLF and IMR5 lines, and CHD5 expression increased after treatment with 5-aza-2-deoxycytidine. CHD5 is the strongest candidate tumor suppressor gene that is deleted from 1p36.31 in neuroblastomas, and inactivation of the second allele may occur by an epigenetic mechanism.									
17667943	CHD5	Copy Number Loss	Neuroblastoma	Our mutation and expression analysis in neuroblastoma cell lines, combined with expression analysis in normal tissues, putative function and prior implication in neuroblastoma pathogenesis, suggests that the most promising TSG deleted from the 1p36 SRD is CHD5, but TNFRSF25, CAMTA1 and AJAP1 are also viable candidates.									
12592387	CHD5	Underexpression; Loss of Expression	Neuroblastoma	We examined a panel of neuroblastoma cell lines for CHD5 expression, which was consistently low or undetectable in all these lines.									
27683039	DOT1L	Mutation	Leukemia	Mutations in FLT3 significantly co-occurred with DOT1L (p=0.04), suggesting functional cooperation in leukemogenesis.				FLT3	Collaboration	Mutations in FLT3 significantly co-occurred with DOT1L (p=0.04), suggesting functional cooperation in leukemogenesis.			
27158780	DOT1L	Mutation	Lung Adenocarcinoma	New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types.									
26927674	DOT1L	Mutation	Acute Myeloid Leukemia	Here, we have shown that this program is controlled by two histone methyltransferases, MLL1 and DOT1L, as deletion of either Mll1 or Dot1l in MN1-expressing cells abrogated the cell of origin-derived gene expression program, including the expression of Hoxa cluster genes.									
26783998	DOT1L	Overexpression	Malignant Breast Neoplasm	The expression of DOT1L was up-regulated in malignant breast cancer tissues.									
26385168	DOT1L	inactivation	mixed lineage Leukemia	DOT1L activity is dysregulated in the pathophysiology of rearranged mixed lineage leukemia (MLL-r).									
26199140	DOT1L	altered expression	Breast Carcinoma	Clinically, DOT1L expression is associated with poorer survival and aggressiveness of breast cancers.				c-Myc-p300 complex; SNAIL	Collaboration; binding	DOT1L recognizes SNAIL, ZEB1 and ZEB2 promoters via interacting with the c-Myc-p300 complex and facilitates lysine-79 methylation and acetylation towards histone H3, leading to the dissociation of HDAC1 and DNMT1 in the regions.	HDAC1; DNMT1	Negative regulation	DOT1L recognizes SNAIL, ZEB1 and ZEB2 promoters via interacting with the c-Myc-p300 complex and facilitates lysine-79 methylation and acetylation towards histone H3, leading to the dissociation of HDAC1 and DNMT1 in the regions.
26045981	DOT1L	Overexpression	Esophageal Squamous Cell Carcinoma	Higher expression of enzymes regulating methylation (DOT1L and PRMT1) and acetylation (KAT7, KAT8, KAT2A and KAT6A) of histone was found associated with ESCC risk.									
25592767	DOT1L	Mutation	Leukemia	Histone methyltransferases, including MLL1, DOT1L, EZH2, and SETD2 are recurrently deregulated in human leukemia, either directly by gene mutations or balanced translocations, or indirectly as components of protein complexes that are disturbed in leukemia due to alterations of the other components in these complexes.									
25576241	DOT1L	Mutation	Gastric Carcinoma	The shared variants which were predicted deleterious in silico and could not be found in databases or in a control set of over 4,000 individuals were Sanger sequenced in a third family member. Three candidate variants were identified: p.Glu1313Lys in Insulin receptor (INSR), p.Arg81Pro in F-box protein 24 (FBXO24) and p.Pro1146Leu in DOT1-like histone H3K79 methyltransferase (DOT1L). 									
24816405	DOT1L	Overexpression	Colorectal Carcinoma	Furthermore, high DOT1L expression and H3K79me2 in colorectal cancer tissues was a predictor of poor patient survival.									
23998575	DOT1L	Underexpression	Acute Monocytic Leukemia	The results indicated that the expression of DOT1L was statistically lower than that in the control groups.									
20230194	DOT1L	Underexpression	Leukemia	Studies from stem cells and certain leukemias suggest a second mechanism of leukemogenesis, in which reduced or mistargeted DOT1L activity yields altered centromeric chromatin and consequent chromosomal instability.									
27742788	DAXX	Mutation	Pancreatic Neuroendocrine Tumor	The most frequent alterations found in sporadic PNETs are in MEN1, DAXX/ATRX, and a variety of genes in the mTOR pathway.									
27663587	DAXX	Loss of Expression	Pancreatic Neuroendocrine Tumor	In PanNETs, ALT or loss of ATRX/DAXX nuclear expression was observed in 20.8% and 19.3%, respectively, while microadenomas were not altered.									
27407094	DAXX	Loss of Expression	Pancreatic Neuroendocrine Tumor	ALT and DAXX/ATRX loss in PanNETs was associated with shorter DFS and DSS and likely plays a significant role in driving metastatic disease.									
27259015	DAXX	Loss of Expression	Neuroendocrine Neoplasm	Loss of DAXX or ATRX protein expression defined WD-NET, and abnormal p53, Rb, SMAD4 expression signified PD-NEC.									
27228211	DAXX	Mutation	Glioma	Pediatric gliomas harbor mutations for H3F3A, ATRX and DAXX but not IDH.									
27162024	DAXX	Loss of Expression	Pancreatic Neuroendocrine Tumor	Loss of ATRX/DAXX expression is frequent in PanNETs, indicating a role in their pathogenesis.									
26891131	DAXX	Mutation	Uterine leiomyosarcoma	Exome data also revealed one nonsense mutation in death-domain associated protein (DAXX), another gene previously associated with ALT, and the tumor showed ALT positivity.									
26814089	DAXX	Overexpression	Cervical Intraepithelial Neoplasia; cervical Squamous Cell Carcinoma	(1) The positive expression rate of Daxx was 28.57% (12/42), 40.00% (18/45), 65.91% (29/44), 66.67% (42/63), respectively, in chronic cervicitis, cervical intraepithelial neoplasia I-II (CIN I-II), CIN III and cervical squamous cell carcinoma.									
26205068	DAXX	Overexpression	Oral Squamous Cell Carcinoma	Daxx mRNA and protein expression are elevated in several OSCC cell lines and human OSCC samples in comparison to those in normal tissue.				TCF4	Binding	Daxx silencing reduces cyclin D1 expression via a Daxx-TCF4 interaction, whereas the Daxx depletion-mediated G1 arrest can be relieved by ectopic expression of cyclin D1.	Cyclin D1	Negative regulation	Daxx silencing reduces cyclin D1 expression via a Daxx-TCF4 interaction, whereas the Daxx depletion-mediated G1 arrest can be relieved by ectopic expression of cyclin D1.
26190196	DAXX	Loss of Expression	Liver Angiosarcoma; Epithelioid Hemangioendothelioma	Loss of ATRX expression was observed in 21% (16/77) of the primary angiosarcomas and 9% (1/11) of epithelioid hemangioendotheliomas.									
26087898	DAXX	SNP	Pancreatic Neuroendocrine Tumor	We detected a total of 1,764 nonsynonymous single nucleotide variants at a rate of 8 per Mb in BP-NET and 4.3 per Mb in panNET cell lines, including 52 mutated COSMIC cancer genes in these cell lines, such as TP53, BRCA1, RB1, TSC2, NOTCH1, EP300, GNAS, KDR, STK11, and APC but not ATRX, DAXX, nor MEN1.									
26026117	DAXX	Loss of Expression	Pancreatic Neoplasm	The ALT-positive phenotype was significantly associated with tumors of pancreatic origin (7/10) and loss of ATRX or DAXX protein (8/10).									
26004297	DAXX	Mutation	Glioma	Pediatric gliomas differ in their spectrum of disease from those in adults; high grade gliomas occurring in children frequently have mutations in H3F3A, ATRX and DAXX, but not IDH.									
25903140	DAXX	Overexpression	Prostate Carcinoma; pancreatic carcinoma	Finally, interrogation of the Oncomine(TM) database suggests that DAXX overexpression is associated with malignant transformation in several human cancers, including prostate and pancreatic cancers.									
25479829	DAXX	Mutation	Pediatric Glioblastoma multiforme	H3F3A, HIST1H3B, IDH1, ATRX, DAXX and Tp53 mutations were identified by sequencing/immunohistochemistry in 27 pediatric GBMs.									
25210493	DAXX	Mutation	Pancreatic Neuroendocrine Tumor	The somatic mutation frequencies of the DAXX/ATRX, KRAS, MEN1, mTOR pathway genes (PTEN and TSC2), SMAD4/DPC, TP53, and VHL in Chinese pNET patients were 54.05%, 10.81%, 35.14%, 54.05%, 2.70%, 13.51%, and 40.54%, respectively, while the same figures in Caucasians pNET patients were 43%, 0%, 44%, 15%, 0%, 3%, and 0%, respectively.									
24747642	DAXX	Mutation 	adrenocortical carcinoma	We performed exome sequencing and SNP array analysis of 45 ACCs and identified recurrent alterations in known driver genes (CTNNB1, TP53, CDKN2A, RB1 and MEN1) and in genes not previously reported in ACC (ZNRF3, DAXX, TERT and MED12), which we validated in an independent cohort of 77 ACCs.									
24436263	DAXX	Mutation; Loss of Expression	Pancreatic Neuroendocrine Tumor	Mutation in DAXX/ATRX is only seen in pancreatic neuroendocrine tumors, making it a useful potential marker in distinguishing these tumors from mimics. Loss of expression of DAXX and ATRX proteins has been recently identified in 45 %.									
24430597	DAXX	Loss of Expression	Pancreatic Neuroendocrine Tumor	Molecular alterations of PanNETs are also very different than that of ductal or acinar tumors. Loss of expression of DAXX and ATRX proteins has been recently identified in 45 %.									
24375391	DAXX	Mutation; altered expression	Neuroendocrine Neoplasm	Biological understanding and derived treatment options for NETs have changed markedly in recent years. Over the last decade, the genomic landscape of these tumors has been extensively investigated. This has resulted in the discovery of mutations and expression anomalies in genes and pathways such as the PI3K/Akt/mTOR, DAXX/ATRX, and MEN1, which are promising predictive and prognostic biomarkers and future candidates for targeted therapies.				ATRX	Binding	Biological understanding and derived treatment options for NETs have changed markedly in recent years. Over the last decade, the genomic landscape of these tumors has been extensively investigated. This has resulted in the discovery of mutations and expression anomalies in genes and pathways such as the PI3K/Akt/mTOR, DAXX/ATRX, and MEN1, which are promising predictive and prognostic biomarkers and future candidates for targeted therapies.			
24148618	DAXX	Loss of Expression	Pancreatic Neuroendocrine Tumor	Loss of DAXX or ATRX protein and alternative lengthening of telomeres were associated with CIN in pNETs.									
23954140	DAXX	Loss of Expression	Neuroendocrine Neoplasm	At least 1 loss of ATRX and DAXX immunoreactivity was detected in all neuroendocrine tumor cases but not in any of nonneoplastic pancreatic tissues or pancreatic adenocarcinomas.									
23819605	DAXX	altered expression	Urothelial Carcinoma	The quantitative immunohistochemical analysis shows an altered protein expression of chromatin remodeler DAXX in UC and in its preinvasive phases, when compared to NU. DAXX evaluation, if associated with markers related to global DNA methylation and histone acetylation, could be used in clinical practice as a marker of aggressiveness.									
23642739	DAXX	Overexpression	Prostate Carcinoma	DAXX expression was analyzed by immunohistochemistry on a tissue microarray containing 7478 prostate cancer specimens. Results were compared with tumor phenotype, biochemical recurrence, and v-ets erythroblastosis virus E26 oncogene homolog (ERG) status. DAXX expression was predominantly seen in the nucleus. DAXX expression was detectable in 4609 (80.6%) of 5718 interpretable cancers and considered strong in 5.9%, moderate in 45.8%, and weak in 28.9%. Strong DAXX expression was associated with both transmembrane protease, serine 2 (TMPRSS2)/ERG rearrangement and ERG expression (P < .0001 each). Strong DAXX expression was tightly linked to high Gleason grade, advanced pT stage, increased cell proliferation index, and early prostate-specific antigen recurrence (P < .0001 each).									
23539629	DAXX	Overexpression	Ovarian Epithelial Tumor	In this study, we found that DAXX was highly expressed in human ovarian surface epithelial tumors but not in granulosa cell tumors.				PML	Binding	In cultured ovarian cancer cells, DAXX interacted with promyelocytic leukemia protein (PML) and localized to subnuclear domains (so-called PML nuclear bodies).			
23429748	DAXX	Mutation	Pancreatic Neuroendocrine Tumor	Recent progress has been facilitated by development of high-throughput tools including second-generation sequencing and arrays for analysis of the 'epigenome' of tumour and normal tissue, permitting unbiased approaches such as exome sequencing that identified mutations of chromatin-remodelling genes ATRX/DAXX in 44% of pancreatic NETs.									
22575867	DAXX	Loss of Expression	Pancreatic Carcinoma	ATRX and/or DAXX expression was lost in 3 of 50 (6%) pancreatic neuroendocrine tumors.									
22310917	DAXX	Mutation	Pancreatic Neuroendocrine Tumor	In particular, we discuss two genes (DAXX and ATRX) that have collectively been identified as mutated in >40% of PanNETs, and the biological and prognostic implications of these novel mutations.									
22251937	DAXX	Loss of Expression	Pancreatic Neuroendocrine Tumor	In contrast, DAXX and ATRX labeling was lost in 45% of PanNETs, whereas p53 and Rb immunolabeling was intact in these same cases.									
21719641	DAXX	Mutation; Loss of Expression	Pancreatic Neuroendocrine Tumor	All of the PanNETs exhibiting these abnormal telomeres had ATRX or DAXX mutations or loss of nuclear ATRX or DAXX protein.									
21252315	DAXX	Mutation 	Pancreatic Neuroendocrine Tumor	The most frequently mutated genes specify proteins implicated in chromatin remodeling: 44% of the tumors had somatic inactivating mutations in MEN1, which encodes menin, a component of a histone methyltransferase complex, and 43% had mutations in genes encoding either of the two subunits of a transcription/chromatin remodeling complex consisting of DAXX (death-domain-associated protein) and ATRX (α thalassemia/mental retardation syndrome X-linked).									
17306074	DAXX	Overexpression	Acute Leukemia 	The expression of Daxx protein was detected by immunohistochemical assay in 50 children with newly diagnosed acute leukemia (34 cases of acute lymphocytic leukemia and 16 cases of acute non-lymphocytic leukemia). Daxx protein was expressed in 38.0% of 50 children with acute leukemia, which was significantly higher than that of the control group (5.0%) (P < 0.05).									
16101141	DAXX	Underexpression	Colon adenocarcinoma	A reduction in Daxx protein expression was also observed in colon adenocarcinoma tissue when compared with normal colon tissue.							cyclin D1; Hath-1	Regulation	Overexpression of Daxx altered the expression of genes downstream of Tcf4, including cyclin D1 and Hath-1, and induced G1 phase arrest in colon cancer cells
11358857	DAXX	Overexpression	Prostate Carcinoma	Some genes (e.g., E2F4) were overexpressed in tumor epithelial cells and some (e.g., Daxx) were increased in tumor stroma.									
26690953	PRDM2	Underexpression	Glioma	Real-time polymerase chain reaction and western blot analysis showed that RIZ1 was downregulated in high-grade gliomas compared with low-grade gliomas and normal brain tissue.				Ki-67	Negative correlation	There was a negative correlation between RIZ1 and Ki-67 immunoreactivity.			
26108676	PRDM2	SNP	Colorectal Carcinoma	Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P<.05).									
25987089	PRDM2	Underexpression (hypermethylation); Loss of Expression	Renal Cell Carcinoma	RIZ1 expression was down-regulated or lost in OS-RC-2, 769-P, Caki-1, 786-O and A498 RCC cell lines. RIZ1 expression is down-regulated in human RCC, and this down-regulation is associated with methylation.									
25722013	PRDM2	altered expression	Parathyroid Gland Neoplasm	Impaired expression of the histone methyltransferases EZH2, BMI1, and RIZ1 have been described in parathyroid tumors.									
25437343	PRDM2	Hypermethylation	lung neoplasm	In concordance with DNMT1 elevation, promoter hypermethylation of tumor suppressor genes Cdh13, Prdm2, and Runx3 was observed in lung tissues at Day 3 and in lung tumors.									
25233927	PRDM2	Hypermethylation	HPV-induced Cervical Carcinoma	Promoter methylation of the transcription factor PRDM14 (PRDI-BF1 and RIZ domain containing 14) represents a highly frequent event in human papillomavirus (HPV)-induced cervical cancers and cancer precursor lesions.									
24966940	PRDM2	Underexpression (hypermethylation)	Lung Carcinoma	PRDM2, PRDM5, PRDM16 promoters are methylated and their expression is suppressed in lung cancer cells.									
24755471	PRDM2	Mutation	Colorectal Carcinoma	Notably, we found that exome mutation and DNA copy-number spectra in colorectal cancer cell lines closely resembled those seen in primary colorectal tumors. Similarities included the presence of two hypermutation phenotypes, as defined by signatures for defective DNA mismatch repair and DNA polymerase ε proofreading deficiency, along with concordant mutation profiles in the broadly altered WNT, MAPK, PI3K, TGFβ, and p53 pathways. Furthermore, we documented mutations enriched in genes involved in chromatin remodeling (ARID1A, CHD6, and SRCAP) and histone methylation or acetylation (ASH1L, EP300, EP400, MLL2, MLL3, PRDM2, and TRRAP).									
24577895	PRDM2	Hypermethylation	Bladder Carcinoma	PRDM2, HLTF, ID4, DLC1, BNIP3, H2AFX, CACNA1G, TGIF, and CACNA1A were discovered methylated in bladder cancer.									
24441146	PRDM2	Overexpression	pediatric Myeloid Leukemia	Gene expression profiling showed a unique signature characterized by significantly higher expression of EYA3, SESN1, PRDM2/RIZ, and HIST2H4 genes. In conclusion, t(6;9)/DEK-NUP214 represents a unique subtype of acute myeloid leukemia with a high risk of relapse, high frequency of FLT3-ITD, and a specific gene expression signature.									
24040155	PRDM2	altered expression	Rectal cacinoma	Twenty seven out of 35 patients were finally included in the study. We performed a multiple t-test using Significance Analysis of Microarrays, to find those genes differing significantly in expression, between responders (n=11) and non-responders (n=16) to CRT. The differently expressed genes were: BC 035656.1, CIR, PRDM2, CAPG, FALZ, HLA-DPB2, NUPL2, and ZFP36.									
23485510	PRDM2	Hypermethylation	Bladder Carcinoma	PRDM2, HLTF, ID4, DLC1, BNIP3, H2AFX, CACNA1G, TGIF and CACNA1A were methylated in bladder cancer.									
22614009	PRDM2	Underexpression	Malignant meningioma	These results from our study indicate that RIZ1 expression is significantly downregulated as the formation of meningiomas progressed, and suggest that RIZ1 may represent a promising candidate tumor suppressor gene that contributes to malignant meningiomas.				c-myc	Negative correlation	Furthermore, RIZ1 overexpression in malignant meningioma cells was associated with the downregulation of c-myc expression.			
22372344	PRDM2	Underexpression (hypermethylation)	Esophageal Squamous Cell Carcinoma	In the 28 ESCC patient samples, RIZ1 expression was significantly lower in the tumor tissues than that in their adjacent non-cancerous tissues (p < 0.05). Methylation of the RIZ1 promoter and loss of RIZ1 expression in human ESCC are independent biomarkers.									
22363126	PRDM2	Underexpression (hypermethylation)	Esophageal Squamous Cell Carcinoma	The expression of RIZ1 mRNA in TE-13 was up-regulated after treatment with 5-aza-CdR. Promoter methylation may play an important role in the epigenetic silencing of RIZ1 gene expression in human ESCC.									
22300346	PRDM2	Loss of Expression (hypermethylation)	T Acute Lymphoblastic Leukemia	These results suggest that RIZ1 is inactivated in adult ALL, and this inactivation is associated with methylation in T-ALL.									
21535891	PRDM2	Hypermethylation	Nasopharyngeal Carcinoma	NPC paraffin and brushing DNA revealed an 81.8% concordance so that MSP analysis was done using either one of both specimens. NPC samples showed methylation for individual TSGs (DAPK1 79.2%, CDH13 77.4%, DLC1 76.9%, RASSF1A 75.5%, CADM1 69.8%, p16 66.0%, WIF1 61.2%, CHFR 58.5%, RIZ1 56.6% and RASSF2A 29.2%).									
21369371	PRDM2	Overexpression	Prostate Carcinoma	In this study, we showed that RIZ1 mRNA expression level was elevated in stage IV of eight different types of cancer (stage III for prostate cancer), indicating that RIZ1 might play an important role in tumor metastasis, and the PR domain alone possessed anticancer activity.									
20878080	PRDM2	Underexpression	Neuroblastoma	However, RIZ1 and RIZ1+2 mRNA were significantly under-expressed in biologically unfavourable tumors characterized by 1p loss (p<0.005) or MYCN amplification (p<0.005).									
20828818	PRDM2	Underexpression (hypermethylation)	Acute Myeloid Leukemia	Decreased RIZ1 expression was accompanied by methylation in six of nine samples examined, while it was also observed in seven of 13 without methylation.									
20736025	PRDM2	Hypermethylation	Hepatocellular Carcinoma	Methylation frequencies in P16(INK4a), RASSF1A, APC, GSTP1, and RIZ1 genes were significantly greater in tumorous versus non-tumorous tissues.									
20675009	PRDM2	Loss of Expression (hypermethylation)	Hepatocellular Carcinoma	RIZ1 methylation was detected in 66.7% (32/48) HCC tissues, 6.3% (3/48) corresponding non-cancerous tissues, and 66.7% (4/6) HCC cell lines. All 32 HCC tissues with promoter methylation showed complete loss of RIZ1 protein, whereas RIZ1 protein was present in all the corresponding non-cancerous tissues.									
22993552	PRDM2	Hypermethylation; Mutation	Cholangiocarcinoma	An understanding of the molecular mechanisms underlying the carcinogenesis and pathogenesis of CCA is necessary to improve patient survival. Therefore, we determined the genetic and epigenetic alterations of RIZ1 in 81 CCA samples and 69 matched non-tumor tissues. Methylation was found in 31 of 81 (38%) tumor samples and in 5 of 69 (7%) matched non-tumor tissues. Frameshift mutations (2 of 81) and loss of heterozygosity (LOH) (14 of 81) were not common.									
20159667	PRDM2	Underexpression (hypermethylation); Loss of Expression (hypermethylation)	Cervical Carcinoma	RIZ1 expression is reduced or lost in cervical cancers, compared with normal cervical tissues (P <0.05). The current study results also showed that loss of RIZ1 is mediated by aberrant cytosine methylation of the RIZ1 promoter. RIZ1 mRNA expression was significantly higher (P = 0.000) in unmethylated (0.3494 +/- 0.0466, mean +/-SD), compared with methylated tissues (0.1422 +/- 0.1073, mean +/-SD)									
19746436	PRDM2	Underexpression	Prostate Carcinoma	Our data demonstrate that RIZ1 is expressed in normal PECs and down-regulated in cancer cells, with a switch of its sub-cellular localization from the nucleus to the cytoplasm upon cancer grade progression.									
19602237	PRDM2	Underexpression	Chronic Myelogenous Leukemia	RIZ1 is a candidate tumor suppressor gene whose expression is decreased in blast crisis. Loss of RIZ1 activity results in decreased apoptosis and differentiation and enhanced proliferation. Together these results suggest that loss of RIZ1 expression will lead to an increase in myeloid blast cell population resulting in CML progression.									
19173828	PRDM2	Hypermethylation	Hepatocellular Carcinoma	Methylation of the 8 TSGs was quite frequent in HCC, with a methylation rate of 95.0% in RASSF1A, 90.0% in APC, 73.3% in GSTP1, 65.0% in p16, 61.6% in RIZ1 and 60.0% in MGMT. Methylation of the 6 genes was more frequent in HCC than that in adjacent tissues (P < 0.05).									
18819746	PRDM2	Hypermethylation	Neuroblastoma	Seven of the investigated genes (CD44, RASSF1A, CASP8, PTEN, ZMYND10, CDH1, PRDM2) showed high frequencies (> or =30%) of methylation in 33 neuroblastoma cell lines.									
18712668	PRDM2	Loss of Expression (hypermethylation)	Hepatocellular Carcinoma	These results suggest that the inactivation of the RIZ1 by DNA methylation at its promoter region is involved in the tumorigenesis of HCC, particularly in the early stage of disease.									
17968429	PRDM2	Hypermethylation	Hepatocellular Carcinoma	The frequency of the methylation in tumour tissue was 57.1% in p16, 2.4% in DAP-kinase, 23.8% in GSTP1, 90.5% in APC, 45.2% in RIZ1, 64.3% in SFRP1, 59.5% in SFRP2, 28.6% in SFRP5, 47.6% in RUNX3, and 54.8% in SOCS1, while in MGMT, no aberrant methylation was detected.									
17963297	PRDM2	Underexpression (hypermethylation)	Hepatocellular Carcinoma	SMYD3 over-expression in HCC was associated with RIZ1 hypermethylation and mRNA down-expression.				SMYD3	Negative correlation	SMYD3 over-expression in HCC was associated with RIZ1 hypermethylation and mRNA down-expression.			
17922684	PRDM2	Underexpression (hypermethylation)	Ovarian Carcinoma	DNA methylation status of RIZ1 was also studied. All (6/6) of the normal, 5/9 of benign, and 4/9 of borderline tissues were positive for RIZ1 protein. In ovarian cancer tissues 32.9% (54/164) were positive for RIZ1. Decreased expression of RIZ1 was significantly correlated with histological subtypes (P < 0.0001), high tumor grade (P = 0.0153) and advanced clinical stage (P = 0.0345), and high Ki67 index (P = 0.0117) but was not associated with the overall prognoses of the patients (P = 0.519). The presence of methylated band was detected in 2/9 cell lines, and 5/69 ovarian cancer tissues. Median values of relative RIZ1 expression in cell lines with methylation were significantly lower than those without methylation (P = 0.0404), and treatment of 5-aza-2'deoxycitidine resulted in demethylation and re-expression of RIZ1.									
17693662	PRDM2	Polymorphism	Lung Adenocarcinoma; Lung Carcinoma	One haplotype (Ht5) in LD block 3 of RIZ was significantly associated with the reduced risk of lung adenocarcinomas (aOR = 0.28, 95% CI = 0.13-0.58) as well as overall lung cancer (aOR = 0.50, 95% CI = 0.30-0.82). This study suggested that RIZ polymorphisms may be important predictive markers for lung cancer susceptibility.									
17103461	PRDM2	Underexpression (hypermethylation); Loss of Expression (hypermethylation)	Thyroid Gland Carcinoma; Thyroid Gland Neoplasm	The authors demonstrated that RIZ1 expression is lost in thyroid tumor cell lines and is also significantly reduced in thyroid carcinomas, when compared with normal thyroid tissues (P < .0001) and benign tumors (P = .0003). The current study results also showed that loss of RIZ1 is mediated by aberrant cytosine methylation of the RIZ1 promoter. RIZ1 mRNA expression was significantly higher (P = .02) in unmethylated (1.22 +/- 1.2, mean +/- standard deviation [SD]), compared with methylated tissues (0.37 +/- 0.42, mean +/- SD).									
17052263	PRDM2	Underexpression (hypermethylation)	Prostate Carcinoma	DNA methylation of the RIZ1 gene was detected in 20 (42.6%) of the 47 PCa tissues by methylation-specific polymerase chain reaction. Of the three PCa cell lines, only the PC3 cell line showed loss of RIZ1 mRNA due to DNA methylation, and this loss was rectified by treatment with a demethylating agent, 5-Aza-2'-deoxycytidine.				p53	Association	All four PCa specimens with nuclear accumulation of p53 were stage III disease and showed DNA methylation of RIZ1.			
16928264	PRDM2	Hypermethylation	Ovarian Carcinoma	Specific methylation was found in cervical cancer (including CDH1, DAPK, MGMT and MINT2), endometrial cancer (CASP8, CDH13, hMLH1 and p73), and ovarian cancer (BRCA1, p14, p15, RIZ1 and TMS1).									
16888795	PRDM2	Hypermethylation	non-Small Cell Lung Carcinoma	Hypermethylation of p16, RARbeta2, H-cadherin, GSTP1, RIZ, and FHIT occurred in 37%, 38%, 34%, 18%, 9%, and 31% of patients, respectively.									
16706806	PRDM2	Loss of Expression (hypermethylation)	Hepatocellular Carcinoma	Frequent promoter hypermethylation and subsequent loss of protein expression has also been demonstrated in HCC at tumor suppressor gene (TSG), p16, p14, p15, SOCS1, RIZ1, E-cadherin and 14-3-3 sigma.									
16501248	PRDM2	SNP	Breast Carcinoma	To evaluate this hypothesis, we examined common variants in 12 genes coding for DNA methyltransferases (DNMT), histone acetyltransferases, histone deacetyltransferases, histone methyltrasferases and methyl-CpG binding domain proteins, for association with breast cancer in a large case-control study (N cases = 4474 and N controls = 4580). We identified 63 single nucleotide polymorphisms (SNPs) that efficiently tag all the known common variants in these genes, and are also expected to tag any unknown SNP in each gene. We found some evidence for association for six SNPs: DNMT3b-c31721t [P (2 df) = 0.007], PRDM2-c99243 t [P (2 df) = 0.03] and t105413c [P-recessive = 0.05], EHMT1-g-9441a [P (2df) = 0.05] and g41451t (P-trend = 0.04), and EHMT2-S237S [P (2df) = 0.04].									
16421660	PRDM2	Mutation	Hereditary Nonpolyposis Colorectal Cancer	Mutations of the hMSH3, TCF4, CASP5, RIZ, RAD50, and MBD4 genes were comparatively frequent (>35 percent) in all stages.									
15824739	PRDM2	Hypermethylation	Esophageal Adenocarcinoma	Using real-time quantitative methylation-specific PCR, we screened 10 genes (HPP1, RUNX3, RIZ1, CRBP1, 3-OST-2, APC, TIMP3, p16, MGMT, p14) for promoter hypermethylation in 77 EAC, 93 BE, and 64 normal esophagus (NE) specimens. A subset of genes manifesting significant differences in methylation frequencies between BE and EAC was then analysed in 20 dysplastic specimens. All 10 genes except p14 were frequently methylated in EACs, with RUNX3, HPP1, CRBP1, RIZ1, and OST-2 representing novel methylation targets in EAC and/or BE.									
15809732	PRDM2	Underexpression	Adrenal Gland Pheochromocytoma; abdominal paraganGlioma	RIZ1 mRNA appeared to be significantly under-expressed in the tumour samples compared to normal adrenal controls (mean 0.6 vs. 1.0, p<0.001).									
15447999	PRDM2	Hypermethylation	Gallbladder Carcinoma	Ten genes demonstrated relatively high frequencies of aberrant methylation: SHP1 (80%), 3-OST-2 (72%), CDH13 (44%), P15INK4B (44%), CDH1 (38%), RUNX3 (32%), APC (30%), RIZ1 (26%), P16INK4A (24%), and HPP1 (20%).									
15309726	PRDM2	Mutation	Gastric Carcinoma	Frameshift mutations of RIZ may play an important role in gastric cancers with MSI.									
15069684	PRDM2	Underexpression (hypermethylation)	Gastric Carcinoma	Promoter hypermethylation of the RIZ1 gene was found in 31 (69%) of 45 gastric carcinoma tissues and in 3 (21%) of 14 corresponding non-neoplastic mucosae, the incidence being significantly different (p = 0.002). Promoter hypermethylation was associated with reduced RIZ1 expression in gastric carcinoma tissues (p = 0.029).									
14668725	PRDM2	Hypermethylation	Parathyroid Gland Neoplasm	Promoter hypermethylation of RIZ1 was detected in 36% of the parathyroid tumors and was related to LOH at the RIZ1 locus (P=.01), and absence of somatic mutation of the MEN1 gene (P=.044).									
14534544	PRDM2	Mutation	Gastric Carcinoma	In this study, we evaluated RIZ1 in 30 primary gastric cancers and found frameshift mutations in two cases (6.7%).									
12631603	PRDM2	Loss of Expression (hypermethylation)	Nasopharyngeal Carcinoma	The methylated RIZ1 gene was detected in both CNE-2 and M1, 18 (60%) NP tumors, but not in any of the normal controls. Of 30 matched body fluid samples, methylated RIZ1 DNA was found in 11 (37%) NP swabs, 9 (30%) M & T rinsing fluid, 7 (23%) plasma, and 3 (10%) buffy coat samples. Sequencing analysis confirmed all cytosines to uracils conversion, excluding cytosines in CpG dinucleotides in methylated PCR products. Promoter methylation correlated with loss of RIZ1 mRNA expression, and 5-aza-2'-deoxycytidine treatment restored its expression in CNE-2.									
12472571	PRDM2	altered expression	Leukemia; Acute Myeloid Leukemia	Our results showed that the expression of RIZ1 was significantly decreased in leukemia cell lines (14 out of 17, 82%) and in patients with acute myeloblastic leukemia (eight out of 14, 57%). In contrast, RIZ2 expression was increased in patients with acute lymphoblastic leukemia (eight out of 11, 73%), compared with normal bone marrow cells.									
12082534	PRDM2	Mutation	Melanoma	Frameshift mutations in the RIZ gene were found in 17% of melanoma samples and 8.6% of naevi, but we could not demonstrate any missense mutations in the exons of RIZ1.									
12002276	PRDM2	SNP	Leukemia	We analyzed nucleotide alteration of RIZ gene in human leukemia. The results revealed a single nucleotide polymorphism (SNP), T1704 to A, near the conserved Rb-binding domain, leading to an amino acid change, Asp283 to Glu. 									
11719434	PRDM2	Underexpression (hypermethylation); Loss of Expression	Breast Carcinoma; liver carcinoma; Colon Carcinoma; Lung Carcinoma	Methylation of the RIZ1 promoter strongly correlated with lost or decreased RIZ1 mRNA expression in breast, liver, colon, and lung cancer cell lines as well as in liver cancer tissues.									
11544182	PRDM2	Mutation	diffuse large B-cell Lymphoma	Finally, several missense mutations of RIZ1 were found in human tumor tissues and cell lines; one of these was particularly common in human DLBL tumors. These missense mutations, as well as the previously described frameshift mutation, all mapped to the MTase functional domains.									
11259086	PRDM2	Polymorphism	Breast Carcinoma; Colon Carcinoma; hepatocelluar cell carcinoma	Here, we analysed RIZ gene mutations and LOH in HCC, breast cancer, familial melanoma, colon cancer, and stomach cancer. We found 7 polymorphisms but no mutations. By analysing the Pro704-deletion polymorphism, we detected LOH of RIZ in 31 of 79 (39%) informative HCC cases, 11 of 47 (23%) colon cancer cases, 8 of 43 (19%) breast cancer cases, 8 of 66 (12%) stomach cancer cases.									
11135439	PRDM2	Mutation	Pancreatic Carcinoma; Gastric Carcinoma; Colorectal Carcinoma	In this study, we examined mutations of two poly adenine tracts, A(8) and A(9), within the coding region of the RIZ gene, in MSI-high (MSI-H) primary cancers occurring in the pancreas, stomach, and colorectum. Frameshift mutations were found in one (10%) of 10 pancreatic, four (36%) of 11 gastric, and two (25%) of eight colorectal cancers.									
10987271	PRDM2	Mutation; Loss of Expression	Gastric Carcinoma; Endometrial Carcinomaertrial carcinoma; Colorectal Carcinoma	Frameshift mutations in the two coding polyadenosine tracks of RIZ were found in 19 (48%) of 40 gastric carcinomas, 6 (33%) of 18 endometrial carcinomas, 14 (26%) of 51 of colorectal carcinomas, and 7 (54%) of 13 cell lines. Eleven tumor tissues showed biallelic inactivation of RIZ.									
10688904	PRDM2	Mutation; Underexpression; Loss of Expression	Colorectal Carcinoma	Four of eleven microsatellite-unstable colorectal cancer cell lines, three of which had frameshifts, showed reduced or absent mRNA expression of RIZ1.	p1	Regulation	We propose that RIZ is a target of the observed 1p alterations, with impairment of the PR domain-mediated function through either frameshift mutation or genomic deletion.						
10508492	PRDM2	Underexpression	hepatoma tumor	RIZ1 expression was also decreased in hepatoma tumor specimens.									
27129178	RNF2	Overexpression	Cystadenoma; Ovarian Carcinoma; Borderline Ovarian Epithelial Tumor	Our result showed that overexpression of RNF2 was observed in none of the normal ovaries, in 7% of cystadenomas, in 15% of borderline tumors, and in 41% of ovarian carcinomas, respectively (P<0.01).									
26936624	RNF2	Overexpression	Esophageal Carcinoma	We demonstrate that expression of RNF2 was markedly upregulated in esophageal cancer cell lines and surgically resected cancer specimens.				r-H2AX; H2AK119ub	Binding	Co-immunoprecipitation (Co-IP) assay and western blot analysis were employed to detect the interaction between RNF2 and r-H2AX, H2AK119ub, and the expression of proteins associated with cell cycle and apoptosis, respectively			
26869491	RNF2	Overexpression (copy number gain)	Urothelial Carcinoma	Overexpression of RNF2 was observed in 44.0% of UCBs and was found to significantly associate with shortened overall and cancer-specific survival (P<0.001). Additionally, RNF2 overexpression was significantly associated with RNF2 gene amplification (P=0.004) and cell proliferation (P=0.003).									
25470042	RNF2	Underexpression	Breast Carcinoma	We find that in human breast cancer cell lines containing amplified 17q23, TRIM37 is upregulated and, reciprocally, the major H2A ubiquitin ligase RNF2 (also known as RING1B) is downregulated.									
25431952	RNF2	Overexpression	Pancreatic Carcinoma	More than 50% of the tumor cells showed a high expression of H2AK119Ub1, Ring1B, and EZH2, whereas more than 50% of the tumor cells showed a low level of H3K27Me3.									
24903147	RNF2	Overexpression	Pancreatic Ductal Adenocarcinoma	Here, we report that in pancreatic ductal adenocarcinoma (PDAC), elevated levels of the ubiquitin E3 ligase Ring1B and Snail, along with elevated monoubiquitination of H2A at K119 (H2AK119Ub1), are highly correlated with poor survival.				EZH2	Binding	We found that Ring1B and the SNAG-associated chromatin modifier EZH2 formed distinct protein complexes with Snail and that EZH2 was required for Snail-Ring1A/B recruitment to the target promoter.	Snail	Positive regulation	Simultaneous depletion of Ring1A and Ring1B in pancreatic cancer cells decreased Snail binding to the target chromatin, abolished H2AK119Ub1 modification, and thereby compromised Snail-mediated transcriptional repression and cell migration
24742605	RNF2	Overexpression	Ductal Breast Carcinoma;  Breast Carcinoma	Here we report that the expression of the Polycomb epigenetic repressor Ring1B is enhanced in tumoral cells that invade the stroma in human ductal breast carcinoma and its expression is coincident with that of Fak in these tumors. Our findings provide new insights in the biology of the breast carcinoma and open new avenues for breast cancer prognosis and therapy.							Fak; p63	Positive regulation; negative regulation	Ring1B knockdown in breast cancer cell lines revealed that Ring1B is required to sustain Fak expression in basal conditions as well as in Tgfβ-treated cells.  Finally we identify p63 as a target of Ring1B to regulate Fak expression: Ring1B depletion results in enhanced p63 expression, which in turns represses Fak expression. 
20491773	RNF2	Underexpression	Osteosarcoma	Intriguingly, polycomb repressive complex 1 members, Bmi1 and Ring1b proteins, were reduced in PHC3-expressing osteosarcoma cells.				PHC3	Negative correlation	Intriguingly, polycomb repressive complex 1 members, Bmi1 and Ring1b proteins, were reduced in PHC3-expressing osteosarcoma cells.			
19585519	RNF2	Overexpression	Pancreatic Ductal Adenocarcinoma; Pancreatic Intraepithelial Neoplasia	In contrast, Ring1B expression was only significantly and persistently up-regulated in high-grade PanINs and in PDAC.									
16528373	RNF2	Overexpression	Gastrointestinal tumor; digestive System Neoplasm; pituitary adenoma; parathyroid adenoma; Lymphoma	Changes in expression associated with tumoral transformation have been found for BMI1 and RNF2, which exhibited increased expression in a large series of tumors, including gastrointestinal tumors, pituitary and parathyroid adenomas, and lymphomas, compared with their expression in normal-cell counterparts.									
27738815	SUZ12	Mutation	uterine neoplasm	Low grade stromal neoplasms frequently show gene fusions, such as JAZF1/SUZ12									
27311868	SUZ12	Overexpression	B cell neoplasm; natural killer cell neoplasm	B-cell neoplasms showed a significant over-expression of EZH2, EED and SUZ12 in the aggressive subtypes compared to the indolent subtypes and normal tissue (p= 0.000-0.046) while expression of EZH1 was decreased in mantle cell lymphoma compared to normal tissue (p= 0.011).									
27142911	SUZ12	Mutation	Endometrial Stromal Sarcoma	The positive rate of JAZF1-SUZ12 fusion gene was 30.8% (12/39) in low-grade ESS.				JAZF1	Fusion	The positive rate of JAZF1-SUZ12 fusion gene was 30.8% (12/39) in low-grade ESS.			
26990975	SUZ12	Mutation	Malignant peripheral nerve sheath tumor	Furthermore, both SUZ12 and EED mutations in MPNSTs were associated with loss of H3K27 tri-methylation, a downstream target of PRC2.									
26880370	SUZ12	Mutation	HTLV-I-induced acute adult T-cell Leukemia	Here we used whole genome next generation sequencing (NGS) of uncultured freshly isolated ATL samples and identified the presence of mutations in SUZ12, DNMT1, DNMT3A, DNMT3B, TET1, TET2, IDH1, IDH2, MLL, MLL2, MLL3 and MLL4.									
26879382	SUZ12	Mutation	Endometrial Carcinoma; stromal sarcoma	To date the JAZF1/SUZ12 gene fusion is by far the most frequent and seems to be the cytogenetic hallmark of ESN and LG-ESS.				JAZF1	Fusion	To date the JAZF1/SUZ12 gene fusion is by far the most frequent and seems to be the cytogenetic hallmark of ESN and LG-ESS.			
26442588	SUZ12	Mutation (gain of function); Mutation (loss of function)	Hepatocellular Carcinoma	Furthermore, gain or loss of function in polycomb repressive complex 2 (PRC2) components, including EZH2, SUZ12, and EED, elucidated epigenetic control of H3K27me3-arbitrated PAK6 down-regulation in hepatoma cells.									
26429873	SUZ12	Mutation	Endometrioid Stromal Sarcoma	 All three LG-ESSs exhibited either one of JAZF1-SUZ12, JAZF1-PHF1 and MEAF6-PHF1 fusions, whereas the two UUSs did not.				JAZF1	Fusion	In this study, we performed whole-exome sequencing, transcriptome sequencing and copy number profiling for five ESSs (three low-grade ESS (LG-ESS) and two undifferentiated uterine sarcomas (UUSs)). All three LG-ESSs exhibited either one of JAZF1-SUZ12, JAZF1-PHF1 and MEAF6-PHF1 fusions, whereas the two UUSs did not.			
26017281	SUZ12	Overexpression	Chronic Myeloid Leukemia	Here, luciferase data confirmed significantly higher and specificer promoter activity of the ARE/SUZ12 composite component in CML blast crisis-derived cell lines (K562, KCL22, and K562/G01) compared to HepG2 cells, and Ad-AS-TK/GCV system could exhibit enhanced apoptotic effects and decreased cell viability for BP-CML cell lines.									
25855382	SUZ12	Underexpression	HBV-associated hepatocellular neoplasm	Clinically, similar effects were documented in a set of HBV-related liver tumors consistent with the likelihood that downregulation of SUZ12 and ZNF198 leads to epigenetic reprogramming of infected hepatocytes.									
25699394	SUZ12	Overexpression	Gastric Carcinoma	We found the expression of SUZ12 in gastric carcinoma tissues (23.58±9.89%) was obviously higher than that in para-cancer tissue (1.12%±0.12%) (p<0.01).							VEGF; MMP-2; MMP-9 	Positive regulation	Inhibition of SUZ12 caused an obviously descent of VEGF, MMP-2 and MMP-9 (0.22±0.06, 0.12±0.03, 0.08±0.02) compared to non transfected group (0.87±0.08, 0.92±0.16, 1.05±0.18) respectively (p<0.01).
25672609	SUZ12	Overexpression	Gastric Carcinoma	In this study, we found that SUZ12 expression was significantly increased in 64 gastric tumor tissues compared with normal tissues.							EMT; KLF2	regulation	Upregulation of SUZ12 was found to play a key role in gastric cancer cell proliferation and metastasis through the regulation of EMT and KLF2 expression.
25355621	SUZ12	Mutation	Endometrial Stromal Sarcoma	Low-grade ESSs frequently contain chromosomal rearrangements that result in JAZF1-SUZ12 fusion or equivalent genetic fusions.				JAZF1	Fusion	Low-grade ESSs frequently contain chromosomal rearrangements that result in JAZF1-SUZ12 fusion or equivalent genetic fusions.			
25326896	SUZ12	Overexpression	Colorectal Carcinoma	We found that overall EZH2, EED and SUZ12 mRNA expression in the CRC tissues was significantly increased than in the non-cancerous tissue (p < 0.05).									
25305755	SUZ12	Mutation	malignant peripheral nerve sheath tumor	Sixteen MPNSTs but none of the neurofibromas tested were found to have somatic mutations in SUZ12, implicating it as having a central role in malignant transformation.									
25299308	SUZ12	Mutation	Endometrial Stromal Nodule; Endometrial Stromal Sarcoma	Specifically, the JAZF1-SUZ12 (formerly JAZF1-JJAZ1) fusion identifies a large proportion of ESN and LG-ESSs, whereas the YWHAE-FAM22 translocation identifies HG-ESSs.				JAZF1	Fusion	Specifically, the JAZF1-SUZ12 (formerly JAZF1-JJAZ1) fusion identifies a large proportion of ESN and LG-ESSs, whereas the YWHAE-FAM22 translocation identifies HG-ESSs.			
25244093	SUZ12	Mutation	 myeloid neoplasm	In addition to mutations in PIGA, mutations were found in genes known to be involved in myeloid neoplasm pathogenesis, including TET2, SUZ12, U2AF1, and JAK2.									
25243792	SUZ12	Overexpression	Colorectal Carcinoma	In search for new biomarkers, we investigated the expression of Polycomb-group (PcG) proteins EZH2, BMI1 and SUZ12 and associated histone modification H3K27me3 in colorectal cancer. Nuclear expression of PcG proteins and histone modification H3K27me3 were immunohistochemically (IHC) stained on a tissue microarray (TMA), including 247 tumor tissues and 47 normal tissues, and scored using the semi-automated Ariol system. Tumor tissues showed higher expression of EZH2 (p=0.05) and H3K27me3 (p<0.001) as compared to their normal counterparts. Combined marker trend analyses indicated that an increase in the number of markers showing high expression was associated with better prognosis. High expression of all four markers in the combined marker analyses was correlated with the best patient survival and the longest recurrence-free survival, with overall survival (p=0.01, HR 0.42(0.21-0.84)), disease-free survival (p=0.007, HR 0.23(0.08-0.67) and local recurrence-free survival (p=0.02, HR 0.30(0.11-0.84)).									
26176059	SUZ12	Overexpression	Gastric Carcinoma	We found the expression of SUZ12 in gastric carcinoma tissues (23.58 ± 9.89%) was obviously higher than that in para-cancer tissue (1.12% ± 0.12%) (p < 0.01).							VEGF; MMP2; MMP-9	Positive regulation	Inhibition of SUZ12 caused an obviously descent of VEGF, MMP-2 and MMP-9 (0.22 ± 0.06, 0.12 ± 0.03, 0.08 ± 0.02) compared to non transfected group (0.87 ± 0.08, 0.92 ± 0.16, 1.05 ± 0.18) respectively (p < 0.01).
24750188	SUZ12	Mutation	Endometrial  stromal tumor	Here we report an unusual case of ESTs. Sudden colonic perforation occurred to the patient, and emergency surgery was performed. Pathological findings suggested metastatic ESS. Thorough medical examination of the genital organs detected a 1cm-sized well-demarcated uterine tumor. Microscopically, the tumor lacked infiltrative features, conforming to the definition of ESN. Both lesions demonstrated identical cytology and shared JAZF1-SUZ12 gene fusion.				JAZF-1	Fusion	Both lesions demonstrated identical cytology and shared JAZF1-SUZ12 gene fusion.			
24633887	SUZ12	Overexpression	non-Small Cell Lung Carcinoma	The results showed that SUZ12 was anomalously expressed in NSCLC tissues compared to adjacent noncancerous tissues (P<0.05) and was highly correlated to tumor size, lymph node metastasis, and clinical stages (P<0.05).							E2F1; ROCK1; ROBO1	Negative regulation	Altogether, we provide evidences suggesting that SUZ12 is an oncogene in NSCLC and can regulate NSCLC cells proliferation and metastasis partly via reducing E2F1, ROCK1, and ROBO1.
24089088	SUZ12	Hypermethylation	Cholangiocarcinoma	Gene ontology and gene set enrichment analyses identified gene sets significantly associated with hypermethylation at linked CpG sites in cholangiocarcinoma including homeobox genes and target genes of PRC2, EED, SUZ12, and histone H3 trimethylation at lysine 27.									
23486531	SUZ12	Mutation 	Myeloid Neoplasm	When we assessed the mutational status in myeloid malignancies (N=469 cases examined), we found EZH2 and EED/SUZ12 mutations in 8% and 3.3% of cases, respectively.									
23211293	SUZ12	Mutation 	Uterine Neoplasm; Endometrial Stromal Nodule; Endometrial Stromal Sarcoma	A tissue microarray was prepared, and FISH analysis was performed using break-apart and fusion probes for JAZF1, SUZ12, EPC1, and PHF1 genes. FISH was successful in 22 cases, and rearrangements involving JAZF1, SUZ12, EPC1, and PHF1 genes were detected in 10 of the 22 (45%) uterine tumors, including 2 of the 3 ESNs and 8 of 12 ESSs.									
23159154	SUZ12	Mutation 	Endometrioid Stromal Sarcoma	We studied a series of 6 YWHAE-FAM22 endometrial stromal sarcomas, 7 JAZF-SUZ12 endometrial stromal sarcomas, 3 JAZF1-PHF1/EPC1-PHF1 endometrial stromal sarcomas, 6 undifferentiated endometrial sarcomas, 4 uterine leiomyosarcomas, and 4 uterine adenosarcomas.				JAZF	Fusion	We studied a series of 6 YWHAE-FAM22 endometrial stromal sarcomas, 7 JAZF-SUZ12 endometrial stromal sarcomas, 3 JAZF1-PHF1/EPC1-PHF1 endometrial stromal sarcomas, 6 undifferentiated endometrial sarcomas, 4 uterine leiomyosarcomas, and 4 uterine adenosarcomas.			
22964433	SUZ12	Overexpression	Ovarian Carcinoma	Here, we show that SUZ12 is expressed at significantly higher levels in human EOC (n = 117) compared with either normal human ovarian surface epithelium (n = 35, P < 0.001) or fallopian tube epithelium (n = 15, P < 0.001).				EZH2; Ki67	Positive correlation	There is a positive correlation between expression of SUZ12 and EZH2 in human EOC (P < 0.001). In addition, expression of SUZ12 positively correlates with Ki67, a marker of cell proliferation (P < 0.001), and predicts shorter overall survival (P = 0.0078).	HPK	Negative regulation	Mechanistically, we identified Harakiri (HRK), a proapoptotic gene, as a novel SUZ12 target gene, and showed that HRK upregulation mediates apoptosis induced by SUZ12 knockdown in human EOC cells.
22489043	SUZ12	Mutation	myeloproliferative neoplasm	Mutations in the other genes were rare (CBL, DNMT3A, IDH2, MPL, SF3B1, SUZ12, NF1) or absent (IDH1).									
22371884	SUZ12	Mutation	Acute Myeloid Leukemia	The other 9 mutations were only apparent in the AML cells and affected known AML-associated genes (RUNX1 and ASXL1) and chromatin remodelers (SUZ12 and EP300).									
22308277	SUZ12	Mutation	Myelodysplastic Syndrome; Myeloproliferative Neoplasm	An unexpected revelation of cancer genome studies has been frequent abnormality in genes for factors that modify chromatin, underscored in this issue of Blood by reports from Score et al and Kroeze et al of inactivating mutations and chromosome loss in SUZ12, EED and JARID2 in myelodysplastic syndrome (MDS) and myeloproliferative disease (MPD).									
22237151	SUZ12	Mutation (loss of function); copy number loss	T Acute Lymphoblastic Leukemia	In this study we report the presence of loss-of-function mutations and deletions of the EZH2 and SUZ12 genes, which encode crucial components of the Polycomb repressive complex 2 (PRC2), in 25% of T-ALLs.									
22237106	SUZ12	Mutation 	T Acute Lymphoblastic Leukemia	ETP ALL was characterized by activating mutations in genes regulating cytokine receptor and RAS signalling (67% of cases; NRAS, KRAS, FLT3, IL7R, JAK3, JAK1, SH2B3 and BRAF), inactivating lesions disrupting haematopoietic development (58%; GATA3, ETV6, RUNX1, IKZF1 and EP300) and histone-modifying genes									
22053108	SUZ12	Mutation 	myelodysplastic syndrome; Myeloproliferative Neoplasm	SUZ12 mutations were identified in 1 of 2 patients with myelodysplastic syndrome/myeloproliferative neoplasms with 17q acquired uniparental disomy and in 2 of 2 myelofibrosis cases with focal 17q11 deletions.									
21836477	SUZ12	Mutation 	Endometrial Stromal Nodule; Endometrial Stromal Sarcoma	Rearrangements were detected in 42 of 78 (54%) uterine ESTs, with JAZF1-SUZ12 fusion found in 50% of ESNs and in 33% of ESSs and JAZF1-PHF1 and EPC1-PHF1 fusions found in 1% and <1% of ESSs, respectively.									
21480320	SUZ12	Underexpression	HBV-associated Hepatocellular Carcinoma	Elevated Plk1 and reduced protein levels of ZNF198 and SUZ12 were also observed in human liver cancer cell lines derived from HBV-related tumors and in the presence of HBV replication.									
21480320	SUZ12	Mutation	 Endometrioid Stromal Sarcoma	In one of the 6 extrauterine endometrial stromal sarcoma cases, JAZF1-JJAZ1 fusion transcripts were detected by reverse transcriptase-polymerase chain reaction.				JAZF1	Fusion	In one of the 6 extrauterine endometrial stromal sarcoma cases, JAZF1-JJAZ1 fusion transcripts were detected by reverse transcriptase-polymerase chain reaction.			
21115743	SUZ12	Overexpression	Ovarian Carcinoma	Here, we investigated the expression and function of EZH2 in epithelial ovarian cancer (EOC). When compared with primary human ovarian surface epithelial (pHOSE) cells, EZH2, SUZ12, and EED were expressed at higher levels in all 8 human EOC cell lines tested.									
20558579	SUZ12	altered expression; Copy Number Gain 	mantle cell Lymphoma; pulmonary carcinoma; Melanoma	Here we show that SUZ12 is anomalously expressed in human primary tumors, especially in mantle cell lymphoma (MCL), pulmonary carcinomas and melanoma, and is associated with gene locus amplification in some cases.									
26838781	SUZ12	Mutation	Endometrial Stromal Tumor	Genomic analysis techniques have revealed important genetic aberrations such as the t(7;17) translocation, resulting in JAZF1-JJAZ1 gene fusion, characteristic of endometrial stromal tumors.									
18580489	SUZ12	Mutation	Endometrial Stromal Sarcoma; undifferentiated Endometrial Carcinomaetrial sarcoma	JAZF1-JJAZ1 fusion transcript was detected in 6 (50%) out of 12 ESS-LG and in 1 (33%) of 3 UES-U, whereas it was not detected in any of the cases of UES-P.				JAZF1	Fusion	JAZF1-JJAZ1 fusion transcript was detected in 6 (50%) out of 12 ESS-LG and in 1 (33%) of 3 UES-U, whereas it was not detected in any of the cases of UES-P.			
18264096	SUZ12	Mutation	Endometrial Carcinoma	Loci on chromosome 10 include MSMB, which encodes beta-microseminoprotein, a primary constituent of semen and a proposed prostate cancer biomarker, and CTBP2, a gene with antiapoptotic activity; the locus on chromosome 7 is at JAZF1, a transcriptional repressor that is fused by chromosome translocation to SUZ12 in endometrial cancer.				JAZF1	Fusion	Loci on chromosome 10 include MSMB, which encodes beta-microseminoprotein, a primary constituent of semen and a proposed prostate cancer biomarker, and CTBP2, a gene with antiapoptotic activity; the locus on chromosome 7 is at JAZF1, a transcriptional repressor that is fused by chromosome translocation to SUZ12 in endometrial cancer.			
17365822	SUZ12	Mutation	Endometrial Stromal Nodule; Endometrial Stromal Sarcoma	ESS and ESN share the fusion gene JAZF1/JJAZ1 caused by a t(7;17)(p15;q21) translocation, whereas UES lacks a distinctive molecular alteration so far.				JAZF1	Fusion	ESS and ESN share the fusion gene JAZF1/JJAZ1 caused by a t(7;17)(p15;q21) translocation, whereas UES lacks a distinctive molecular alteration so far.			
17197920	SUZ12	Mutation	Endometrioid Stromal Sarcoma; Endometrial Stromal Nodule	Overall, evidence for the JAZF1-JJAZ1 fusion was found in 60% of endometrial stromal neoplasms analyzed (8/16 ESS and 4/4 stromal nodules).				JAZF1	Fusion	Overall, evidence for the JAZF1-JJAZ1 fusion was found in 60% of endometrial stromal neoplasms analyzed (8/16 ESS and 4/4 stromal nodules).			
16049311	SUZ12	Mutation	Endometrioid Stromal Sarcoma	Hitherto only 31 cases, described by three different research groups, have shown JAZF1/JJAZ1 fusion in approximately 50% of all analyzed low-grade ESSs whereas it is less frequent in UESs.				JAZF1	Fusion	Hitherto only 31 cases, described by three different research groups, have shown JAZF1/JJAZ1 fusion in approximately 50% of all analyzed low-grade ESSs whereas it is less frequent in UESs.			
15043312	SUZ12	Mutation	Endometrial stromal tumor	JAZF1-JJAZ1 gene fusion transcripts were detected in five (33%) of 15 ESTs, including three of eight primary uterine, one of four metastatic, one of one extrauterine, and none of two recurrent cases. Most ESTs of classic histology showed evidence of JAZF1-JJAZ1 fusion (4 of 5 cases), whereas only one mixed smooth muscle ESN of 10 variant cases was positive.				JAZF1	Fusion	JAZF1-JJAZ1 gene fusion transcripts were detected in five (33%) of 15 ESTs, including three of eight primary uterine, one of four metastatic, one of one extrauterine, and none of two recurrent cases. Most ESTs of classic histology showed evidence of JAZF1-JJAZ1 fusion (4 of 5 cases), whereas only one mixed smooth muscle ESN of 10 variant cases was positive.			
12850374	SUZ12	Mutation	Endometrioid Stromal Sarcoma	We report three additional cases of ESS with abnormal karyotypes, whose interpretation was based on the combined analysis by conventional cytogenetics and cross-species color banding FISH (RxFISH). The combination of G-banding and RxFISH in every case gave additional information beyond that obtained by either technique alone, determining the identity of even complex inter- as well as intrachromosomal rearrangements. In one of the three tumors, a t(7;17) was seen; molecular genetic studies identified the JAZF1/JJAZ1 fusion gene in this case.				JAZF1	Fusion	We report three additional cases of ESS with abnormal karyotypes, whose interpretation was based on the combined analysis by conventional cytogenetics and cross-species color banding FISH (RxFISH). The combination of G-banding and RxFISH in every case gave additional information beyond that obtained by either technique alone, determining the identity of even complex inter- as well as intrachromosomal rearrangements. In one of the three tumors, a t(7;17) was seen; molecular genetic studies identified the JAZF1/JJAZ1 fusion gene in this case.			
11371647	SUZ12	Mutation	Endometrial Carcinomaetrial stromal tumor	Analyses of tumor RNA indicate that a JAZF1/JJAZ1 fusion is present in all types of endometrial stromal tumors; however, the fusion appears to be rarer among endometrial stromal sarcomas that would be considered high-grade according to certain classification schemes.				JAZF1	Fusion	Analyses of tumor RNA indicate that a JAZF1/JJAZ1 fusion is present in all types of endometrial stromal tumors; however, the fusion appears to be rarer among endometrial stromal sarcomas that would be considered high-grade according to certain classification schemes.			
27656868	SMARCA2	Loss of Expression	Endometrial Carcinomaetrial undifferentiated carcinoma	Our study shows that almost a third of endometrial undifferentiated carcinomas exhibit loss of SMARCA4 and SMARCA2 and a subset show rhabdoid morphology									
27487558	SMARCA2	Polymorphism	Pancreatic Carcinoma	In conclusion, two functional promoter BRM polymorphisms were not associated with pancreatic adenocarcinoma risk, but are strongly associated with survival.									
26356327	SMARCA2	Loss of Expression	Ovarian Small Cell Carcinoma	Among ovarian tumours, the SMARCA4/SMARCA2 dual loss phenotype appears completely specific for SCCOHT.									
25948779	SMARCA2	Overexpression	HBV-associated Hepatocellular Carcinoma	The DCLK1 overexpression also correlates with increased levels of S100A9, c-Myc, and BRM levels in HCV/HBV-positive patients with cirrhosis and HCC				DCLK1	Positive correlation	The DCLK1 overexpression also correlates with increased levels of S100A9, c-Myc, and BRM levels in HCV/HBV-positive patients with cirrhosis and HCC			
25808524	SMARCA2	Overexpression	Bladder Carcinoma	Here, we report that both BRG1 and BRM are overexpressed in most primary breast cancers independent of the tumor's receptor status.									
25712539	SMARCA2	Mutation	B cell Lymphoma	Here, we performed bacterial artificial chromosome capture sequencing on three archival, formalin-fixed, paraffin-embedded tissue biopsies, interrogating 20 known rearrangement hotspots in B cell lymphomas. We report novel CIITA, FOXP1 and PDL rearrangements involving IGHG4, FLJ45248, RFX3, SMARCA2 and SNX29.									
25561201	SMARCA2	Mutation	Squamous Cell Carcinoma	Mutations in key genes, including TP53, BRM, PTCH1, and HRAS, contribute to skin carcinogenesis.									
25496315	SMARCA2	Mutation; Loss of Expression	Malignant rhabdoid tumor	Complete loss of SMARCB1, SMARCA2 and PBRM1 expression and corresponding mutations in the same genes were observed in all cases. The mutations included seven missense, three same-sense, four frameshift and two truncating mutations.									
25462860	SMARCA2	Mutation	Gastric Carcinoma	Moreover, somatic mutations of additional chromatin remodelers, such as ARID1A, SMARCA2, and SMARCA4, were found in 30% of gastric cancers.									
25200863	SMARCA2	Loss of Expression	Rhabdoid Tumor	The concurrent loss of BRM, PBRM1, and INI1expression was detected in 2 cases with pure rhabdoid tumor features.									
24913006	SMARCA2	Loss of Expression	Rhabdoid tumor	We show that BRM is an epigenetically silenced gene in 10/11 Rhabdoid cell lines and in 70% of Rhabdoid tumors.									
24471421	SMARCA2	Loss of Expression	Renal Cell Carcinoma	We have shown that loss of BRM expression is a common feature among poorly differentiated tumours in clear cell RCCs.									
24336158	SMARCA2	Loss of Expression	Ovarian Clear Cell Carcinoma	Loss of ARID1A expression was present in 35 cases (52%) and loss of SMARCA2 expression occurred in 1 case.									
23685749	SMARCA2	Mutation	Adenoid cystic carcinoma	Notably, we found mutations in genes encoding chromatin-state regulators, such as SMARCA2, CREBBP and KDM6A, suggesting that there is aberrant epigenetic regulation in ACC oncogenesis.									
23359823	SMARCA2	Polymorphism; Overexpression	Hepatocellular Carcinoma	Quantitative PCR analyses demonstrated that the genotypes of BRM-1321 and the corresponding haplotypes were significantly correlated with BRM expression in vivo. Compared with ins/ins genotype, subjects carrying ins/del and del/del genotype had 2.30 and 4.99 fold higher BRM expression in HCC tissue samples, respectively. Our findings suggest that BRM promoter polymorphism (BRM-1321) could regulate BRM expression and may serve as a potential marker for genetic susceptibility to HCC.									
23349796	SMARCA2	Overexpression	Melanoma	Immunohistochemistry showed high expression of both BRM and BRG1 in primary melanomas.									
23276717	SMARCA2	Mutation	Oligodendroglioma	Our findings suggest that genetic variants in SMARCA2 and SMARCA4 influence the risk of oligodendroglioma.									
23163725	SMARCA2	Loss of Expression	Lung Adenocarcinoma	Here, we present evidence that loss of BRG1 and BRM is involved in the progression of lung adenocarcinomas.									
23088494	SMARCA2	Underexpression (copy number loss)	Hepatocellular Carcinoma	Copy number losses of BRG1 and BRM genes were observed in 14 (26%) and 7 (13%) of 54 primary HCC tumours respectively. Expression of BRM mRNA, but not BRG1 mRNA, was significantly reduced in primary HCC tumours, compared to non-tumour tissue counterparts.									
21564052	SMARCA2	Underexpression	Squamous Cell Carcinoma	We found reduced levels of mRNA coding for BRM but not BRG1 in SCC.									
21478907	SMARCA2	Polymorphism; Loss of Expression	Lung Carcinoma	We found an increased risk of lung cancer when both BRM homozygous promoter insertion variants were present: adjusted odds ratio of 2.19 (95% confidence interval, 1.40-3.43). Thus, we here demonstrate a strong functional association between these polymorphisms and loss of BRM expression.									
19074882	SMARCA2	Underexpression	Prostate Carcinoma	Third, investigation of human specimens revealed that Brm mRNA and protein levels are attenuated in prostate cancer.							E2F1	regulation	Lastly, gene expression profiling showed that Brm loss alters factors upstream of E2F1; this was confirmed in murine models, wherein Brm loss induced E2F1 deregulation in a tissue-specific manner.
18006815	SMARCA2	Loss of Expression	Gastric Carcinoma	We observed frequent loss of Brm expression but not of BRG1 in human gastric cancer cell lines.									
17075831	SMARCA2	altered expression	Prostate Carcinoma	Microarray data showed an aberrant expression of BRG1 and BRM but not SNF5/INI1 genes in different stages of the disease course									
16247481	SMARCA2	Loss of Expression	Non-Small Cell Lung Carcinoma	Patients with Brm/BRG1-deficient lung carcinoma have been reported to carry poor prognosis; derepression of NRSF-regulated genes including these neuron-specific genes could contribute to enhance tumorigenicity and also would provide selective markers for Brm/BRG1-deficient tumors.									
15887247	SMARCA2	Loss of Expression; Underexpression	adenocarcinoma	BRG1 and/or BRM protein is absent or disrupted in approximately 17% of all human adenocarcinomas.									
12566296	SMARCA2	Loss of Expression	Non-Small Cell Lung Carcinoma	In addition, Western blot data have shown that the SWI/SNF ATPase subunits cell, BRG1 and BRM (BRG1/BRM), are lost in approximately 30% of human non-small lung cancer cell lines.									
11147808	SMARCA2	Loss of Expression	Pancreatic Carcinoma	In this study, we identified the first cell line negative for the BAF57 protein as well as a pancreatic carcinoma cell line negative for both the BRG-1 and hBRM proteins.									
24338710	MBD3	Underexpression	gastric neoplasm	The promoter methylation status was determined by bisulfite sequencing, and we found reduced MBD2 and MBD3 levels in the neoplastic samples compared with the other groups. Therefore, our data suggest that DNA methylation plays a minor role in the regulation of MBD2 and MBD3 expression, and the presence of methylation at CpGs that interact with transcription factor complexes might also be involved in the modulation of these genes.				MBD2	Negative correlation	Moreover, a strong correlation between the MBD2 and MBD3 expression levels was observed in each set of paired samples.			
21196933	MBD3	Loss of Expression	Colon Carcinoma	Mbd3 depletion in colon cancer cells increased histone acetylation at AP-1-dependent promoters, which resulted in increased target gene expression.									
12101420	MBD3	Overexpression	Small cell Lung Carcinoma; non-small cell Lung Carcinoma	When beta-actin was used as an internal control, the mRNA expression of three DNMTs (DNMT1, DNMT3A, and DNMT3B) and five MBPs (MBD1, MBD2, MBD3, MBD4, and MeCP2) was upregulated in SCLC, while only that of DNMT1, DNMT3B and MBD3 was upregulated in NSCLC, compared with normal lung tissues.									
27453350	KAT2B	Overexpression	Alveolar Rhabdomyosarcoma	The present work shows that the histone acetyltransferase P/CAF (KAT2B) is overexpressed in primary tumours from ARMS patients.							PAX3-FOXO1 	Positive regulation	Silencing P/CAF, or pharmacological inhibition of its acetyltransferase activity, down-regulates PAX3-FOXO1 levels concomitant with reduced proliferation and tumour burden in xenograft mouse models.
27019369	KAT2B	abnormal cytoplasmic accumulation	Skin Squamous Cell Carcinoma	Our results suggest that increase in nuclear expression of p300, as well as the presence of cytoplasmic but loss of nuclear expression of PCAF, could play an important role in the development and progression of cutaneous SCC.									
26945969	KAT2B	Underexpression	Hepatocellular Carcinoma	In present research, we detected that PCAF was down-regulated in hepatocellular carcinoma (HCC) tissues compared with the adjacent non-tumor tissues and significantly associated with malignant portal vein invasion (p<0.05) and poor survival (p<0.05) of HCC patients.							Gli1	Negative regulation	PCAF is an anti-oncogene that plays an important role in the development of HCC by suppressing HCC cell metastasis and EMT by targeting Gli1, which indicates the potential therapeutic value of PCAF for suppression of metastasis of HCC.
26662507	KAT2B	Mutation; Copy Number change	Clear Cell Renal Cell Carcinoma	We have in this study studied the genetic alteration (mutation and copy number variance) of Notch gene set in the Cancer Genome Atlas (TCGA) Kidney Renal Clear Cell Carcinoma (KIRC) database. We found that Notch pathway was frequently altered in ccRCC. The Notch gene set was genetically altered in 182 (44%) of the 415 ccRCC patients. CNV was the predominant type of alteration in most genes. Alterations in KAT2B and MAML1 occurred in 13% and 19% of patients, respectively, both of which were functionally active in ccRCC.									
25855960	KAT2B	Underexpression	Hepatocellular Carcinoma	Gene expression microarray studies showed that PCAF was downregulated in HCC tissues compared with adjacent liver tissues and that PCAF expression was significantly associated with longer overall survival and recurrence-free survival after surgery.							Bcl-2; BAX; GLI1	Negative regulation; positive regulation; regulation	Interestingly, forced expression of PCAF reduced Bcl-2 expression, upregulated BAX and repressed cell apoptosis. Here, we show that PCAF can directly acetylate cytoplasmic GLI1 protein at lysine 518, preventing its nuclear translocation and promoter occupancy, and consequently suppressing Hedgehog (Hh) signaling in HCC.
24668547	KAT2B	Underexpression	Gastric Carcinoma	Our results demonstrated downregulation of HDAC1, PCAF, and CDKN1A in gastric tumors compared with adjacent nontumors (P < 0.05).									
23981651	KAT2B	Underexpression	Hepatocellular Carcinoma	PCAF was found to be expressed at the low level in most of HCC cell lines.							AKT signaling	Negative regulation	PCAF overexpression induced cell apoptosis and growth arrest with increased Histone H4 acetylation and inactivation of AKT signaling in Huh7 and HepG2 cells.
23643089	KAT2B	Underexpression	Hepatocellular Carcinoma	PCAF expression is down-regulated in HCC and constitutes a promising biomarker for the prognosis after curative liver resection.									
23095762	KAT2B	Overexpression	Pancreatic Carcinoma	PCAF was upregulated in several PCa cell lines.	miR-17-5p	Negative regulation	Expression of PCAF in PCa cells was associated with the downregulation of miR-17-5p.				AR	Positive regulation	Upregulation of PCAF promoted AR transcriptional activation and cell growth in cultured PCa cells.
22709982	KAT2B	Mutation 	Hepatocellular Carcinoma	Sequencing methods were used to determine the genotype at the Ile997Val and Asn386Ser on EP300 and PCAF. It appears that variants of the transcriptional coactivator genes (EP300 and PCAF) may influence HCC risk in populations with low mutations or chromosomal instability rates.									
20026908	KAT2B	Underexpression	Gastric Carcinoma; intestinal type Gastric Carcinoma 	The expression of PCAF was markedly down-regulated in GC cell lines and ITGC tissues.				p53	Correlation	A reduced PCAF protein expression correlated significantly with a mutant type p53 protein expression (P<0.01).			
27705940	SET	Overexpression	T Acute Lymphoblastic Leukemia	Here we demonstrate that both SET and c-MYC expression are frequently elevated in T-ALL cell lines and primary samples compared to healthy T cells.									
27698810	SET	Overexpression	Glioma	Positive protein expression of SET was observed in the cell nucleus, with the expression level of SET significantly higher in glioma tissues compared with normal brain tissue (P=0.001).							Bcl-2; Bax; caspase-3	Positive regulation; negative regulation; negative regulation	Thus, the current data suggests that SET may regulate the proliferation and apoptosis of glioblastoma cells by upregulating Bcl-2, and downregulating Bax and caspase-3.
27517624	SET	Overexpression	Colorectal Carcinoma	MiR-199b was found downregulated in 25% of cases, and associated with lymph metastasis (p = 0.049), presence of synchronous metastasis at diagnosis (p = 0.026) and SET overexpression (p < 0.001).	miR199b	negative regulation	We show here miR-199b downregulation in 4 out of 5 CRC SET-overexpressing cell lines and its inverse correlation with SET overexpression in CRC patients.						
27383536	SET	Overexpression	Ovarian Carcinoma	miR-125b expression was markedly lower in the EOC specimens. Ectopic expression of miR-125b in EOC cells significantly inhibited tumor invasion.miR-125b expression was negatively associated with both EMT and SET expression, in vivo and in vitro.	miR-125b	negative regulation	miR-125b expression was markedly lower in the EOC specimens. Ectopic expression of miR-125b in EOC cells significantly inhibited tumor invasion.miR-125b expression was negatively associated with both EMT and SET expression, in vivo and in vitro.						
27283489	SET	Overexpression	Acute Myeloid Leukemia	Altogether, this study opens new directions for understanding the mechanisms that lead to SET overexpression, and demonstrates that MYC, SP1, RUNX1 and GATA2 are key transcriptional regulators of SET expression in AML.							MYC; SP1; RUNX1; GATA2	Positive regulation	Altogether, this study opens new directions for understanding the mechanisms that lead to SET overexpression, and demonstrates that MYC, SP1, RUNX1 and GATA2 are key transcriptional regulators of SET expression in AML
25945834	SET	Overexpression	non-Small Cell Lung Carcinoma	In this study, we showed that SET was evidently overexpressed in human NSCLC cell lines and NSCLC tissues.									
25388166	SET	Overexpression	Colorectal Carcinoma	SET overexpression was detected in 24.8% (60 of 242) of patients with mCRC and determined significantly shorter overall (8.6 vs. 27 months; P < 0.001) and progression-free survival (7.1 vs. 13.7 months; P < 0.001), and poor response to oxaliplatin-based chemotherapy (P = 0.004).									
24944693	SET	Overexpression	Colorectal Adenocarcinoma	mRNA expression levels of SET and β-catenin were found to be elevated in 22 (70.9%) samples, while PP2A expression levels were upregulated in eight (25.8%) samples.							PP2A; c-Myc; β-catenin; E-cadherin; p53	Positive regulation; positive regulation; negative regulation; negative regulation; negative regulation	In addition, the knockdown of SET mRNA expression caused the upregulation of PP2A and c-Myc in the two cell lines, whereas β-catenin, E-cadherin and p53 mRNA expression was downregulated.
24927563	SET	Overexpression	Breast Carcinoma	Here we show that SET is overexpressed in about 50-60% and CIP2A in about 90% of breast cancers.									
24857208	SET	Overexpression	Acute Myeloid Leukemia	Multivariate COX regression analysis showed SET overexpression was an independent prognostic factor for OS.									
24621013	SET	Overexpression	Alveolar soft part sarcoma	Immunohistochemistry confirmed overexpression of SET in all 15 ASPS cases examined.									
23319340	SET	altered expression	Thyroid Gland Carcinoma	Furthermore, differential expression of amyloid beta A4 protein, AXL, heterogeneous nuclear ribonucleoprotein K, phosphoglycerate kinase 1, pyruvate kinase muscle isozyme M2, and SET was observed in TC tissues compared to benign nodules.									
23210573	SET	Mutation	Acute Lymphoblastic Leukemia	Our RT-nPCR assay had a positive detection rate of 35.15% (90/256) for the 10 fusion genes. BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively.				NUP214; HOX	Fusion; correlation	Our RT-nPCR assay had a positive detection rate of 35.15% (90/256) for the 10 fusion genes. BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively. JAK2 and IKZF1 mutations were commonly detected in patients with BCR-ABL1 ALL, and HOX overexpression was highly correlated with MLL fusions and SET-NUP214			
23180565	SET	Overexpression	Lung Carcinoma	Because I2PP2A/SET was found overexpressed, whereas ceramide was downregulated in lung tumours, a sphingolipid analogue drug, FTY720, was identified to mimick ceramide for binding and targeting I2PP2A/SET, leading to PP2A reactivation, lung cancer cell death, and tumour suppression in vivo.							FTY720	Negative regulation	Accordingly, while molecular targeting of I2PP2A/SET by stable knockdown prevented further tumour suppression by FTY720, reconstitution of WT-I2PP2A/SET expression restored this process.
23131782	SET	Overexpression	canine Lymphoma	We observed SET protein levels increased in multiple canine lymphoma cell lines compared with primary peripheral blood cells.									
23114116	SET	Mutation 	T Acute Lymphoblastic Leukemia	The results showed that 6 out of 58 T-ALL cases (10.3%) were detected to have the SET-NUP214 fusion gene by RT-PCR.				NUP214	Fusion	The results showed that 6 out of 58 T-ALL cases (10.3%) were detected to have the SET-NUP214 fusion gene by RT-PCR.			
23106910	SET	Overexpression	Head and Neck Squamous Cell Carcinoma	Cells with SET overexpression (HEK293/SET, HN13 and HN12) showed lower ALDH2 and GSTP1 mRNA levels and trichostatinA increased them (real-time PCR).							ALDH2; GSTP1	Negative regulation	Cells with SET overexpression (HEK293/SET, HN13 and HN12) showed lower ALDH2 and GSTP1 mRNA levels and trichostatinA increased them (real-time PCR).
23023584	SET	Overexpression	Colon Carcinoma	In addition, the mRNA expression of SET and E-cadherin was upregulated in the SW480-FBXL20 and SW620-FBXL20 cells, whereas that of β-catenin, c-Myc, cyclinD1, p53 and PP2A was downregulated.									
22739068	SET	Overexpression	Head and Neck Squamous Cell Carcinoma	SET levels were up-regulated in 97% tumor tissue samples and in HNSCC cell lineages.									
22677993	SET	Overexpression	B Acute Lymphoblastic Leukemia; T Acute Lymphoblastic Leukemia	We showed that SET expression was significantly upregulated in 96.5% of B-acute lymphoblastic leukemia (28 of 29; 16.6 fold) and 93% of T-acute lymphoblastic leukemia (28 of 30; 47.6 fold) patients.									
22169284	SET	Mutation 	Leukemia; Lymphoma	The purpose of this study was to analyze the gene rearrangement pattern of immunoglobulin and T-cell receptor (Ig/TR) and its clinical characteristics in three children with SET-NUP214 fusion gene positive leukemia/lymphoma. The transcript of SET-NUP214 fusion gene was detected by RT-nested PCR.				NUP214	Fusion	The purpose of this study was to analyze the gene rearrangement pattern of immunoglobulin and T-cell receptor (Ig/TR) and its clinical characteristics in three children with SET-NUP214 fusion gene positive leukemia/lymphoma. The transcript of SET-NUP214 fusion gene was detected by RT-nested PCR.			
22133779	SET	Overexpression	Acute Myeloid Leukemia	We quantified SET expression by real time reverse transcriptase polymerase chain reaction in 214 acute myeloid leukemia patients at diagnosis. SET overexpression was found in 60/214 patients, for a prevalence of 28%.	EVI1	Regulation	These findings suggest that SET overexpression is a key mechanism in the inhibition of PP2A in acute myeloid leukemia, and that EVI1 overexpression contributes to the deregulation of SET.						
22082227	SET	Overexpression	Hepatocellular Carcinoma	The SET complex, a central component in the GzmA pathway, was significantly up-regulated in HCC tissue.									
22075511	SET	Mutation	T Acute Lymphoblastic Leukemia	Here, we describe a novel case of T-ALL associated with a mediastinal mass and a SET-NUP214 rearrangement, which was masked by a complex karyotype at the time of initial diagnosis. Using multiplex reverse transcriptase-polymerase chain reaction analysis, we detected a cryptic SET-NUP214 rearrangement in our patient.				NUP-214	Rearrangement	Using multiplex reverse transcriptase-polymerase chain reaction analysis, we detected a cryptic SET-NUP214 rearrangement in our patient.			
21880637	SET	Mutation	T Acute Lymphoblastic Leukemia	We analyzed the incidence and prognostic value of PHF6 mutations in 96 Chinese patients with T-cell acute lymphoblastic leukemia.. NOTCH1 mutations, FBXW7 mutations, WT1 mutations, JAK1 mutations, SIL-TAL1 fusions, SET-NUP214 fusions and CALM-AF10 fusions were present in 44/96 (45.8%), 9/96 (9.4%), 4/96 (4.1%), 3/49 (6.1%), 9/48 (18.8%), 3/48 (6.3%) and 0/48 (0%) of patients, respectively.				NUP-214	Fusion	NOTCH1 mutations, FBXW7 mutations, WT1 mutations, JAK1 mutations, SIL-TAL1 fusions, SET-NUP214 fusions and CALM-AF10 fusions were present in 44/96 (45.8%), 9/96 (9.4%), 4/96 (4.1%), 3/49 (6.1%), 9/48 (18.8%), 3/48 (6.3%) and 0/48 (0%) of patients, respectively.			
21843667	SET	Overexpression	Colorectal Carcinoma	We have also identified many previously unknown changes including overexpression of ACY1, HSC70, HnRNP I, HnRNP A3, SET, ANP32A and TUFM in CRC, which have been further verified by western blotting and immunohistochemistry.									
21720744	SET	Mutation 	T Acute Lymphoblastic Leukemia	Four cases (10%) of SET-NUP214 translocation were identified in our study.				NUP214	Rearrangement	Four cases (10%) of SET-NUP214 translocation were identified in our study.			
20682390	SET	Mutation 	acute undifferentiated Leukemia	Herein we present a novel case of acute undifferentiated leukemia with SET-NUP214 rearrangement due to the cryptic deletion of the 9q34 region producing two different types of fusion transcripts by alternative splicing and molecular characterization of the fusion transcripts by fluorescence in situ hybridization, reverse transcriptase-polymerase chain reaction, and array comparative genomic hybridization analyses.				NUP214	Fusion	Herein we present a novel case of acute undifferentiated leukemia with SET-NUP214 rearrangement due to the cryptic deletion of the 9q34 region producing two different types of fusion transcripts by alternative splicing and molecular characterization of the fusion transcripts by fluorescence in situ hybridization, reverse transcriptase-polymerase chain reaction, and array comparative genomic hybridization analyses.			
20494936	SET	Mutation 	Acute Lymphoblastic Leukemia	We demonstrated that high expression of miR-196b is not unique to MLL-rearranged acute lymphoblastic leukemia but also occurs in patients with T-cell acute lymphoblastic leukemia patients carrying CALM-AF10, SET-NUP214 and inversion of chromosome 7.				NUP214	Fusion	We demonstrated that high expression of miR-196b is not unique to MLL-rearranged acute lymphoblastic leukemia but also occurs in patients with T-cell acute lymphoblastic leukemia patients carrying CALM-AF10, SET-NUP214 and inversion of chromosome 7.			
20417863	SET	Mutation 	B Acute Lymphoblastic Leukemia	The results demonstrate cryptic deletions of 9q34 involving SET, PKN3, NUP188, ABL1, and NUP214 in three of the samples. The smallest deletion resulted in the likely juxtaposition of the SET and NUP214 genes.				NUP214	Fusion	The smallest deletion resulted in the likely juxtaposition of the SET and NUP214 genes.			
27707735	TET2	Mutation 	Chronic Myelomonocytic Leukemia	Exome sequencing studies in Chronic Myelomonocytic Leukemia (CMML) illustrate a mutational landscape characterized by few somatic mutations involving a subset of recurrent gene mutations in ASXL1, SRSF2, and TET2, each approaching 40% in incidence.									
27741277	TET2	Mutation 	Myelodysplastic Syndrome; Myeloproliferative Neoplasm	Moreover, in the whole series, the integrative analysis of aCGH and NGS enabled the identification of cryptic recurrent deletions in 2p23.3 (DNMT3A; n = 2.8%), 4q24 (TET2; n = 10%) 17p13 (TP53; n = 8.5%), 21q22 (RUNX1; n = 7%), and Xp11.4 (BCOR; n = 2.8%), while mutations in the non-deleted allele where found only in DNMT3A (n = 1), TET2 (n = 3), and TP53 (n = 4).									
27694501	TET2	Mutation	Hematopoietic and Lymphoid Cell Neoplasm	These include TET2, SRSF2, ASXL1, RUNX1, JAK2, and/or RAS mutations, which may adversely impact prognosis and survival in particular systemic mastocytosis with an associated hematological neoplasm.									
27644645	TET2	Underexpression (hypermethylation)	Acute Lymphoblastic Leukemia	The results revealed that hypermethylation and downregulation of TET2 gene may play a role in predisposition to childhood ALL.									
27594918	TET2	Mutation 	Primary Myelofibrosis	Genomic profiling showed that TET2 and SRSF2 mutations were also present.									
27486019	TET2	Mutation 	Prostate Carcinoma	TET2 in African Americans was associated with aggressive disease, with 24.4% of cases harboring a rare deleterious variant compared with 9.6% of controls (FET P = 1.84 × 10(-5), OR = 3.0; SKAT-O P = 2.74 × 10(-5)).									
27449473	TET2	Mutation 	Myeloproliferative neoplasm	Our assay reliably detects well characterized mutations in JAK2, CALR, and MPL, but also rarer mutations in ASXL1, TET2, SH2B3, and other genes.									
27027260	TET2	Underexpression	Gastric Carcinoma	Here, we show that TET2 mRNA and protein levels are downregulated in human gastric cancer tissues when compared with normal gastric mucosa.							ANRIL; INK4a; INK4b; ARF	regulation	The mechanism study shows that TET2 binds to the promoter region of the oncogenic long noncoding RNA (lncRNA-ANRIL) and regulates the expression of ANRIL and its downstream genes (INK4a, INK4b, and ARF).
27010584	TET2	Mutation	Thyroid Gland Carcinoma	New mutations were found in an additional 13 genes known to have altered protein expression in thyroid cancer: BLM, CBL, CIITA, EP300, GSTM5, LMO2, PRAME, SBDS, SF1, TET2, TNFAIP3, XPO1, and ZRSR2.									
26984174	TET2	Mutation; Underexpression	Myeloid neoplasm; myelodysplastic syndrome; Acute Myeloid Leukemia	TET2 mutations were observed in 8 out of 19 patients (42%) with myeloid neoplasms. Our results suggest that TET2 expression is reduced in MDS/AML patients, independently of mutational status.									
26880370	TET2	Mutation	T Acute Lymphoblastic Leukemia	TET2 was the most frequently mutated gene, occurring in 32% (10/31) of ATL samples analyzed.									
26851753	TET2	Underexpression	Cervical Squamous Cell Carcinoma	Moreover, expression of TET2, but not TET1 and TET3, was decreased in cervical squamous cell carcinoma.									
26816554	TET2	altered expression	Colorectal Carcinoma	In CRC cells, nuclear expression of TET2 were absent but not TET3.									
26666262	TET2	Mutation 	Acute Myeloid Leukemia	We identified TET2 and PTPN11 mutations in both mouse and human AML and then demonstrated the ability of Tet2 loss and PTPN11 D61Y to initiate leukemogenesis in concert with expression of AML1-ETO in vivo.									
26366235	TET2	Underexpression	Hepatocellular Carcinoma	Our data applying qPCR, immunofluorescence, and Western blotting clearly show that TET2 and TET3 but not TET1 were significantly decreased in HCC tissue and different HCC cell lines compared to non-tumor liver tissues and hHeps.									
26354892	TET2	SNP	Breast Carcinoma	Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue.									
26297264	TET2	Mutation	Chronic Myeloid Leukemia	Mutations in genes other than BCR-ABL1 include ASXL1, TET2, RUNX1, DNMT3A, EZH2, and TP53 in chronic phase patients and RUNX1, ASXL1, IKZF1, WT1, TET2, NPM1, IDH1, IDH2, NRAS, KRAS, CBL, TP53, CDKN2A, RB1, and GATA-2 mutations in advanced phase patients.									
26284134	TET2	Mutation	Glioma	In this study, we genetically characterized TET2 and TET3 alterations in 50 human gliomas (WHO-Grade II-IV) and in 19 healthy brain samples. We identified 7 genetic alterations within TET2 (p.V218M, p.G355N, p.P363L, p.L1721W, p.P1723S, p.I1762V, p.H1778R).									
26277372	TET2	Mutation; Underexpression	Myelodysplastic Syndrome	Mutations in TET2 gene are found in about 20-25% of adult MDS and are associated with a decrease in 5-hydroxymethylcytosine (5-hmC) content. TET2 expression and 5-hmC levels were decreased in patients when compared to a disease-free group.				miR-22; TET2	Negative correlation; positive correlation	Mutations in TET2 gene are found in about 20-25% of adult MDS and are associated with a decrease in 5-hydroxymethylcytosine (5-hmC) content. TET2 expression and 5-hmC levels were decreased in patients when compared to a disease-free group. These findings suggested that TET2 downregulation and low levels of 5-hmC are inversely related to miR-22 expression.			
26253945	TET2	Underexpression	Invasive Ductal Breast Carcinoma	5 mC, 5 hmC, TET1-n, and TET2-n were significantly decreased during DCIS and IDC progression.									
26122388	TET2	Mutation	Chronic Myelomonocytic Leukemia	Gene mutations in ten-eleven translocation (TET) oncogene family member 2 (TET2) (60%), SRSF2 (50%), ASXL1 (40%), and RAS (20-30%) are frequent, with only frame shift and nonsense ASXL1 mutations negatively impacting overall survival.									
26093090	TET2	Underexpression	Esophageal Squamous Cell Carcinoma	TET2 expression was significantly lower in ESCCs than paired normal tissues (P < 0.0001), and significantly associated with 5-hmC levels in ESCCs (P = 0.003, r = 0.33).				5-hmC	Association	In conclusion, 5-hmC expression was decreased in ESCC tissues, and was associated with TET2 expression level			
26019984	TET2	Mutation	Chronic Myelomonocytic Leukemia	Forty-seven (32%) had a mutation in TET2, 42 (29%), a mutation in SRSF2, 65 (45%), a mutation (nonsense and frame-shift) in ASXL1 and 26 (18%), a mutation in SETBP1.									
25886910	TET2	Mutation	Acute Myeloid Leukemia	The methylcytosine dioxygenase TET2 is frequently mutated in hematological disorders, including acute myeloid leukemia (AML), and has been suggested to protect CG dinucleotide (CpG) islands and promoters from aberrant DNA methylation.									
25827305	TET2	Underexpression	Ovarian Carcinoma	We discovered a significant decrease in 5-hmC and TET2 expression in EOC compared with normal ovarian tissues.									
25601757	TET2	Mutation 	Acute Myeloid Leukemia	Here we report thatWT1, a sequence-specific transcription factor, is mutated in a mutually exclusive manner withTET2, IDH1, and IDH2 in acute myeloid leukemia (AML).WT1physically interacts with and recruitsTET2to its target genes to activate their expression. TheinteractionbetweenWT1andTET2isdisruptedbymultipleAML-derivedTET2mutations.				WT1	mutual exclusive 	Our results also provide an explanation for the mutual exclusivity ofWT1andTET2mutationsin AML, and suggest an IDH1/2-TET2-WT1pathway in suppressing AML.			
25567135	TET2	Mutation 	systemic mastocytosis	All patients with (A)SM-AHNMD (n=12) carried 1-4 (median 3) additional mutations in 11 genes tested, most frequently TET2, SRSF2, ASXL1, CBL and EZH2.									
25557833	TET2	Underexpression	Colorectal Carcinoma	We found reduced transcript levels of TET1, TET2 and TET3 in cancerous tissue compared with their histopathologically unchanged counterparts (p = 0.000011; p = 0.000001; p = 0.00031, respectively).									
25482724	TET2	Mutation	Thymic Carcinoma	Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n = 2; 4%)], chromatin remodeling [SMARCA4 (n = 2; 4%)], and DNA methylation [DNMT3A (n = 3; 7%), TET2 (n = 2; 4%), WT1 (n = 2; 4%)] pathways were recurrently mutated in TCs, but not in thymomas.									
25362856	TET2	Mutation	Leukemia	Genetic mutations of TET2 gene were associated with leukemia, whereas TET1 downregulation has been shown to promote malignancy in breast cancer.									
25246247	TET2	Underexpression	 Acute Myeloid Leukemia	The level of TET2 mRNA is significantly lower in patients with CN-AML and it is an independent negative prognostic factor.									
25200248	TET2	Underexpression	 Acute Myeloid Leukemia; myelodysplastic syndrome	A significantly decreased TET2 expression was observed in bone marrow cells from AML (n = 53) and patients with MDS (n = 64), compared to normal donors (n = 22).									
25177364	TET2	Mutation 	Myelodysplastic Syndrome	Loss of heterozygosity affecting these two chromosomes and mutations in TET2 and EZH2 are indicative of a myelodysplastic syndrome with a poor prognosis.									
25098926	TET2	Underexpression	Gastric Carcinoma	The expressions of TET1, TET2, TET3, TDG and IDH2, but not IDH1, were notably decreased in GCs, compared with the adjacent non-tumor portion.									
25092778	TET2	Mutation 	Myelodysplastic Syndrome	Mutations in TP53, TET2, or DNMT3A identify patients with MDS with shorter OS after HSCT.									
24994606	TET2	Underexpression	Acute Myeloid Leukemia	Notably, also AML patients with low TET2 mRNA expression levels showed inferior overall survival.									
24980573	TET2	Mutation	Melanoma	This study is the first to implicate TET2 genetic variation and mutation in melanoma.									
24859829	TET2	Mutation	Cytogenetically normal Acute Myeloid Leukemia	We found that 16.1 % of patients had TET2 mutations, 31.6 % had FLT3 internal tandem duplications (ITDs), 6.2 % had FLT3 tyrosine kinase domain mutations, 2.4 % had c-KIT mutations, 37.8 % had NPM1 mutations, 11.3 % had WT1 mutations, 5.9 % had RUNX1 mutations, 11.5 % had ASXL1 mutations, 3.8 % had MLL-PTDs, 7.8 % had IDH1 mutations, 7.8 % had NRAS mutations, 12.3 % had IDH2 mutations, 1.6 % had EZH2 mutations, and 14.7 % had DNMT3A mutations, while none had CBL mutations. Gene mutations were detected in 76.94 % (287/373) of all patients.									
24832084	TET2	SNP	Endometrial Carcinoma	SNP rs7679673, ~6.3kb upstream of TET2 and previously reported to be associated with prostate cancer risk, was associated with endometrial cancer risk in the direction opposite to that for prostate cancer [meta-analysis odds ratio = 0.87 (per copy of the C allele), 95% confidence interval = 0.81, 0.93; P = 7.37×10(-5)] with no evidence of heterogeneity across studies (P heterogeneity = 0.66).									
24795056	TET2	Mutation	myeloproliferative neoplasm	The overall TET2 mutational frequency was 12.1% (22.2% in polycythemia vera (PV), 9.7% in essential thrombocythemia (ET), 18.2% in primary myelofibrosis (PMF,) and 0% in unclassified MPNs), and 11 mutations (p.Lys95Asnfs*18, p.Gln967Asnfs*40, p.Lys1022Glufs*4, p.Asp1314Metfs*49, p.Gln1534Alafs*43, p.Tyr1618Leufs*4, p.Leu1609Glufs*45, p.Gly1735*, Q599R, c.3409+1G>T, c.4044+2insT) were identified.									
24740812	TET2	Mutation	myeloproliferative neoplasm	We also identified a transcriptional signature of TET2 mutations in MPN patent samples.									
24693539	TET2	Overexpression	Chronic Lymphocytic Leukemia	Overexpression of TET2 was observed in B-cell lymphocytes from CLL patients compared with healthy donors (P = 0.004).									
24598796	TET2	SNP	Prostate Carcinoma	In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, including variants for lung (rs401681 in TERT: OR per C allele=0.89, p=3.7 × E-03; rs4975616 in TERT: OR per A allele=0.90, p=0.01; rs3131379 in MSH5: OR per T allele=1.16, p=0.03), prostate (rs7679673 in TET2: OR per C allele=0.89, p=5.7 × E-03; rs10993994 in MSMB: OR per T allele=1.09, p=0.04), and breast (rs3817198 in LSP1: OR per C allele=1.12, p=0.01) cancers, but none of these associations remained significant after multiple test correction.									
24521710	TET2	Hypermethylation	Urothelial Carcinoma	Nine of these 11 tumors had hypermethylation of TET2.									
24413734	TET2	Mutation	Angioimmunoblastic T-Cell Lymphoma	These analyses identified highly recurrent epigenetic factor mutations in TET2, DNMT3A and IDH2 as well as a new highly prevalent RHOA mutation encoding a p.Gly17Val alteration present in 22 of 35 (67%) angioimmunoblastic T cell lymphoma (AITL) samples and in 8 of 44 (18%) PTCL, not otherwise specified (PTCL-NOS) samples.									
24345752	TET2	Mutation 	Angioimmunoblastic T-Cell Lymphoma	TET2 was mutated in 65 (76%) AITLs, including 43 that harbored 2 or 3 TET2 mutations.									
24202323	TET2	Mutation 	Myelodysplastic Syndrome	Genes implicated in epigenetic control, like DNMT3A, ASXL1, EZH2 and TET2, have been discovered to be mutated in MDS.									
24164563	TET2	Mutation 	Chronic Myelomonocytic Leukemia	We screened 45 patients with chronic myelomonocytic leukemia (n=39 patients, including seven with transformed-acute myeloid leukemia), MDS/MPN unclassifiable (n=5), and atypical BCR-ABL1-negative CML (n=1) for mutations in ASXL1, CBL, NRAS, and TET2 genes by molecular genetics including a sensitive next-generation sequencing (NGS) technique.									
24122999	TET2	Underexpression	Oral Squamous Cell Carcinoma	A significant decrease in 5hmC and TET2 expression was found in OSCC compared to healthy oral epithelium.									
23996483	TET2	Mutation	Myelodysplastic Syndrome	Among the 168 de novo myelodysplastic syndrome patients, the frequency of TET2, IDH1, and IDH2 mutations was 18.5%, 4.2% and 6.0%, respectively.									
23996481	TET2	Mutation	Myelofibrosis	We found that 88% of the cases were mutated, mainly in signaling pathway (JAK2 69%, NF1 6%) and epigenetic genes (ASXL1 26%, TET2 14%, EZH2 8%).									
23985253	TET2	SNP	Prostate Carcinoma	There may be obvious association of FAM84B (rs12543663, C) gene with prostate cancer risk and the stages, and the synergistic effects of TET2 (rs7679673, A), LMTK2 (rs6465657, T) and FAM84B (rs12543663, C) genes may have an association with prostate cancer risk in Chinese population.				FAM84B; LMTK2; FAM84B	Collaboration	There may be obvious association of FAM84B (rs12543663, C) gene with prostate cancer risk and the stages, and the synergistic effects of TET2 (rs7679673, A), LMTK2 (rs6465657, T) and FAM84B (rs12543663, C) genes may have an association with prostate cancer risk in Chinese population.			
23940084	TET2	Mutation	Blastic Plasmacytoid Dendritic Cell Neoplasm	Targeted next-generation sequencing performed on five BPDCN cases identified TET2 (ten eleven translocation 2) mutations and no other AML-associated mutations.									
23831920	TET2	Mutation	Diffuse Large B-Cell Lymphoma	Here, we show TET2 mutations in 12 of 100 diffuse large B-cell lymphomas with 7% carrying loss-of-function and 5% carrying missense mutations.									
23827711	TET2	Underexpression	myelodysplastic syndrome	Downregulation of TET2 protein also correlated with poor clinical outcomes and miR-22 overexpression in MDS patients.									
23781511	TET2	Mutation	 myeloproliferative neoplasm	On multivariate analysis the diagnosis of an unclassifiable MPN was significantly related to the presence of TET2 mutations (P = 0.02; OR: 2.81; 95% CI 1.11-7.06).									
23521373	TET2	Mutation	Acute Myeloid Leukemia	TET2 was found to be most frequently mutated (34·0%) gene, followed by GATA2 (21·0%), WT1 (13·7%), DNMT3A (9·6%), ASXL1 (9·5%), NRAS (8·4%), KRAS (3·2%), IDH1/2 (6·3%), FLT3-internal tandem duplication (6·3%), FLT3-tyrosine kinase domain (2·1%), NPM1 (2·1%), and RUNX1 (1/94).									
23458759	TET2	Underexpression	Melanoma	We have shown that 5hmC levels and TET2 expression are significantly reduced in advanced melanomas compared with nevi and thin melanomas.									
23389918	TET2	genetic alteration	Acute Myeloid Leukemia	The search for alterations in TET2 gene may be important for the prediction of prognosis in normal/altered AML patients' karyotype or in the disease evolution of patients with MNP and MDS.									
23099237	TET2	Mutation	Myelodysplastic Syndrome	TET2 mutations were detected in 35 patients (23%), ASXL1 in 33 patients (22%) and EZH2 in 8 (5%).									
23015417	TET2	genetic alteration	Myeloid Neoplasm	Intriguingly, many of the alterations affecting DNA cytosine modifications in myeloid malignancies (mutations in DNMT3A, IDH1/2, and TET2) have also been found in patients with T-cell lymphomas, and EZH2 mutations appear to be critical in T-cell acute lymphoblastic leukemia development as well.									
22912701	TET2	Mutation	Acute Myeloid Leukemia	We aimed to study the frequency and relationship of a wide range of genes previously reported as mutated in AML (ASXL1, NPM1, FLT3, TET2, IDH1/2, RUNX1, DNMT3A, NRAS, JAK2, WT1, CBL, SF3B1, TP53, KRAS and MPL) in a series of 84 CN-AML cases.									
22912701	TET2	Mutation	Acute Myeloid Leukemia	The most frequently mutated genes in primary cases were NPM1 (60.8%) and FLT3 (50.0%), and in secondary cases ASXL1 (48.5%) and TET2 (30.3%).									
22773603	TET2	Mutation	Chronic Myelomonocytic Leukemia	SRSF2 and U2AF1 along with TET2 (48%) and ASXL1 (38%) are frequently affected by somatic mutations in chronic myelomonocytic leukemia, quite distinctly from the profile seen in juvenile myelomonocytic leukemia.									
22760778	TET2	Mutation	Angioimmunoblastic T-Cell Lymphoma; t cell Lymphoma	TET2 mutations were identified in 40 of 86 (47%) cases of angioimmunoblastic T-cell lymphoma (AITL) and in 22 of 58 (38%) cases of peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS), but were absent in all other PTCL entities, with the exception of 2 of 10 cases of enteropathy-associated T-cell lymphoma.									
22749034	TET2	Mutation	Myelodysplastic Syndrome	Thus, a TET2 deletion was observed in a total of six patients (14.6%).									
22535592	TET2	Mutation	Acute Myeloid Leukemia	In 48 MRC-AML patients analyzed, we found 17 mutations in ASXL1 (35%), eight in RUNX1 (17%), seven in TET2 (15%), 12 in IDH (n = 2) or IDH2 (n = 10) (25%), four in DNMT3A (8%), four in NPM1 (8%), and one in FLT3 (2%).									
22507776	TET2	Mutation	Acute Myeloid Leukemia	Nonetheless, mutations in DNMT3A, TET2, and ASXL1 are emerging as important adverse prognosticators in subsets of patients with AML independent of FLT3 mutations whereas mutations in IDH2 at residue 140 are potential predictors of improved outcome in AML.									
22511494	TET2	Mutation	Chronic Myelomonocytic Leukemia	TET2 mutations were distributed across all entities but were most frequent in suspected chronic myelomonocytic leukemia (77.8%).									
22430270	TET2	Mutation	Acute Myeloid Leukemia	In total, 66 TET2(mut) were found in 60 patients (60 of 783 patients; 7.6%), including missense (n = 37), frameshift (n = 16), and nonsense (n = 13) mutations, which, with one exception, were all heterozygous.									
22395470	TET2	Mutation	Chronic Myeloid Leukemia	We found that two non-CpG island promoters, AIM2 and SP140, were hypermethylated in patients with mutant TET2.									
23691452	TET2	Underexpression	Myelodysplastic Syndrome	The expression of TET2 mRNA in BMMNC was down-regulated in MDS patients compared with the donor group [(0.41±0.28)% vs. (1.07±0.56)%] (P<0.001).									
22328940	TET2	Mutation	Chronic myelomonocytic Leukemia	Mutations of TET2, JAK2 and EZH2 were found in 15 patients (65%), 4 patients (17%) and 1 patient (4%) respectively while no mutations in the IDH1 and IDH2 genes were identified.									
22116554	TET2	Mutation	Acute Myeloid Leukemia	By deep-sequencing, 131 somatic TET2 mutations were identified in 87/318 (27.4%) patients.									
22093580	TET2	Mutation	Acute Myeloid Leukemia	The studies highlighted in this article suggest that mutations in TET2 mutations may impart adverse outcome in patients with CN-AML, whereas mutations in DNMT3a may have adverse implications in a broader set of patients with AML.									
22017486	TET2	Mutation	Acute Myeloid Leukemia; Chronic Myelomonocytic Leukemia; Myelodsplastic syndrome; Myeloporliferative neoplasm	We identified TET2 deletions in 50/893 patients (26 males, 24 females; 44-87 years) resulting in a 5.6% frequency [22/425 AML (5.2%), 15/217 chronic myelomonocytic leukemia (CMML; 6.9%), 9/188 myelodysplastic syndromes (4.8%), 4/63 myeloproliferative neoplasms (6.3%)].									
21904853	TET2	Mutation	myeloproliferative neoplasm	We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations.									
21828143	TET2	Mutation	Acute Myeloid Leukemia	TET2 mutation occurred in 13.2% of our patients and was closely associated with older age, higher white blood cell and blast counts, lower platelet numbers, normal karyotype, intermediate-risk cytogenetics, isolated trisomy 8, NPM1 mutation, and ASXL1 mutation but mutually exclusive with IDH mutation.									
21828135	TET2	Mutation	chronic myelomonocytic Leukemia	TET2 mutations were present in 49%, ASXL1 in 43%, CBL in 14%, IDH1/2 in 4%, KRAS in 7%, NRAS in 4%, and JAK2 V617F in 1% of patients.									
21794915	TET2	underexpression (mutation)	Chronic Myeloid Leukemia	In this study, we report a chronic myeloid leukemia (CML) case showing a TET2 single copy partial deletion associated to a t(4;6;11) rearrangement, appearing during the progression of the disease and responsible for a decreased TET2 gene expression.									
21729597	TET2	Mutation	Acute Myeloid Leukemia	Among 96 AML patients, TET2 gene mutation was detected in 13 (13.54%) patients (95%CI 6.70% - 20.38%).									
21508122	TET2	Mutation	Acute Myeloid Leukemia	Mutation of at least one copy of the TET2 gene was detected in 49 of 247 (19.8%) patients who presented with older age, higher hemoglobin level, higher neutrophil and monocyte counts, and lower platelet count.									
21346257	TET2	Mutation	Myeloproliferative neoplasm	On the basis of the detection of JAK2, CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations in myelodysplastic/myeloproliferative neoplasms, we hypothesized that they may also contribute to progression in CML.									
21343549	TET2	Mutation	Acute Myeloid Leukemia	TET2 mutations, found in 23% of patients, were associated with older age (P < .001) and higher pretreatment WBC (P = .04) compared with wild-type TET2 (TET2-wt).									
21188113	TET2	Mutation	myeloproliferative neoplasm	Among 146 MPN patients, we identified two patients (1.4%) who showed a common 4q24 deletion, including TET2.									
21087791	TET2	Mutation	Chronic Myelomonocytic Leukemia	A TET2 deletion was found in one patient with chronic myelomonocytic leukemia suggesting that fluorescence in situ hybridization may have a role in identification of TET2 deletions, at least in this group of patients.									
20068184	TET2	Mutation	Myeloproliferative Neoplasm	Analysis of 14 patients for which paired samples from MPN and sAML were available showed that TET2 mutations were frequently acquired at leukemic transformation [6 of 14 (43%)].									
20061559	TET2	Mutation	Myeloproliferative Neoplasm	In 4 of 8 myeloproliferative neoplasm patients, we found that some colonies with mutated TET2 carried wild-type JAK2, whereas others were JAK2-V617F positive, indicating that TET2 occurred before JAK2-V617F.									
27764136	STED2	Loss of Expression	Clear Cell Renal Cell Carcinoma	We found that 49/160 (31%), 81/160 (51%), 23/160 (14%), 24/160 (15%), and 61/160 (38%) of ccRCC showed loss of expression of PBRM1, ARID1A, SETD2, BRG1, and BRM, respectively, and that IHC could successfully detect a high prevalence of ITH.									
27764136	STED2	altered expression	Bladder Carcinoma	Expression of a number of proangiogenic factors, including HIF-1, VEGF, bFGF, IL-8 and MMPs, as well as anti-angiogenic factor TSP-1, was found to be altered in bladder tumors.									
27713405	STED2	Mutation	Renal Cell Carcinoma	Here we perform a molecular analysis of 62 high-grade primary uRCC, incorporating targeted cancer gene sequencing, RNA sequencing, single-nucleotide polymorphism array, fluorescence in situ hybridization, immunohistochemistry and cell-based assays. We identify recurrent somatic mutations in 29 genes, including NF2 (18%), SETD2 (18%), BAP1 (13%), KMT2C (10%) and MTOR (8%).									
27687306	STED2	Mutation	Lung Adenocarcinoma	LUADs in this cohort exhibited an average of 243 coding mutations. We identified 28 genes with significant enrichment for mutation. SETD2-mutated LUADs exhibited relatively poor recurrence- free survival (RFS) and mutations in STK11 and ATM were associated with poor RFS among KRAS-mutant tumors.									
27600764	STED2	Mutation (loss of function)	Type II Enteropathy-Associated T-Cell Lymphoma	Enteropathy-associated T-cell lymphoma (EATL), a rare and aggressive intestinal malignancy of intraepithelial T lymphocytes, comprises two disease variants (EATL-I and EATL-II) differing in clinical characteristics and pathological features. Here we report findings derived from whole-exome sequencing of 15 EATL-II tumour-normal tissue pairs. The tumour suppressor gene SETD2 encoding a non-redundant H3K36-specific trimethyltransferase is altered in 14/15 cases (93%), mainly by loss-of-function mutations and/or loss of the corresponding locus (3p21.31).									
27462774	STED2	inactivation	Acute Myeloid Leukemia	We also found a previously undescribed feature of AML, consisting of a hypermutator phenotype caused by SETD2 inactivation.									
27446567	STED2	Overexpression	Lung Carcinoma 	In conclusion, HIF-1 was highly expressed in certain subgroups of lung cancer with specific histopathology and images.									
27359055	STED2	Mutation	Acute Myeloid Leukemia	We selected 19 significantly-mutated genes in AMLs, including FLT3, DNMT3A, NPM1, TET2, RUNX1, CEBPA, WT1, IDH1, IDH2, NRAS, ASXL1, SETD2, PTPN11, TP53, KIT, JAK2, KRAS, BRAF and CBL, and performed massively parallel sequencing for 114 patients with acute myeloid leukemias, mainly including those with normal karyotypes (CN-AML). More than 80% of patients had at least one mutation in the genes tested.									
27191981	STED2	Overexpression	Oral Squamous Cell Carcinoma	Our results confirm that TLR3 and TLR4 are highly expressed in oral squamous cell carcinoma (OSCC). Activation of TLR3 and TLR4 stimulated the expression of HIF-1 through NF-κB. In addition, HIF-1 increased the expression of TLR3 and TLR4 through direct promoter binding. Thus, the TLR/NF-κB pathway forms a positive feedback loop with HIF-1.	TLR3; TLR4; NF-κB	Positive regulation	Activation of TLR3 and TLR4 stimulated the expression of HIF-1 through NF-κB.				TLR3; TLR4	Positive regulation	Our results confirm that TLR3 and TLR4 are highly expressed in oral squamous cell carcinoma (OSCC). Activation of TLR3 and TLR4 stimulated the expression of HIF-1 through NF-κB. In addition, HIF-1 increased the expression of TLR3 and TLR4 through direct promoter binding. Thus, the TLR/NF-κB pathway forms a positive feedback loop with HIF-1.
27072194	STED2	Mutation	Chordoma	The combined copy number and mutation profiling revealed that SETD2 is the single gene affected most frequently in chordomas, either by deletion or by mutations.									
26928227	STED2	Mutation	Pleural Malignant Mesothelioma	Through exome analysis, we found BAP1, NF2, TP53, SETD2, DDX3X, ULK2, RYR2, CFAP45, SETDB1 and DDX51 to be significantly mutated (q-score �?0.8) in MPMs.									
26832993	STED2	Mutation	Phyllodes Tumor	Recurrent MED12 mutations were found in 56% of PTs; in addition, mutations affecting cancer genes (eg TP53, RB1, SETD2 and EGFR) were exclusively detected in borderline and malignant PTs.									
26657503	STED2	Overexpression	Hilar Cholangiocarcinoma	HIF-1, which is activated in human hilar cholangiocarcinomas, contributes to tumor cell survival following PDT in vitro.									
26646321	STED2	Mutation	Renal Cell Carcinoma	SETD2 mutant primary ccRCCs, papillary renal cell carcinomas, and lung adenocarcinomas all demonstrated a DNA hypermethylation phenotype that segregated tumors by SETD2 genotype and advanced grade. These findings collectively demonstrate that SETD2 mutations drive tumorigenesis by coordinated disruption of the epigenome and transcriptome,and they have important implications for future therapeutic strategies targeting chromatin regulator mutant tumors.									
26575290	STED2	Mutation (loss of function)	Clear Cell Renal Cell Carcinoma	Amongst the genes most frequently mutated in ccRCC, we identified SETD2 inactivation as a potent enhancer of transcription read-through.									
26559293	STED2	Mutation	Clear Cell Renal Cell Carcinoma	DNA sequencing revealed that mutations in SETD2 occur in 3% to 12% of clear-cell renal cell carcinoma (ccRCC) cases and are associated with poor clinical outcome.									
26536169	STED2	Mutation	Papillary Renal Cell Carcinoma	Type 1 and type 2 papillary renal-cell carcinomas were shown to be different types of renal cancer characterized by specific genetic alterations, with type 2 further classified into three individual subgroups on the basis of molecular differences associated with patient survival. Type 1 tumors were associated with MET alterations, whereas type 2 tumors were characterized by CDKN2A silencing, SETD2 mutations, TFE3 fusions, and increased expression of the NRF2-antioxidant response element (ARE) pathway.									
26452128	STED2	Mutation	Clear Cell Renal Cell Carcinoma	Clear cell Renal Cell Carcinoma (ccRCC) is due to loss of von Hippel-Lindau (VHL) gene and at least one out of three chromatin regulating genes BRCA1-associated protein-1 (BAP1), Polybromo-1 (PBRM1) and Set domain-containing 2 (SETD2). By bioinformatic tools, we performed predictions of the molecular effects of all mutations lying in BAP1, PBRM1 and SETD2 genes.									
26338826	STED2	Mutation	Gastrointestinal Stromal Tumor	Combined, the frequency of SETD2 mutations was 11.2% (10/89) and 0% (0/34) in high-risk and low-risk GISTs respectively.				HOXC genes 	Association	In gastric GISTs, SETD2 mutations were associated with overexpression of HOXC cluster genes and a DNA methylation signature of hypomethylated heterochromatin.	H3K36me3	Negative regulation	SETD2 mutant GISTs exhibited decreased H3K36me3 expression while SETD2 silencing promoted DNA damage in GIST-T1 cells.
26111976	STED2	Mutation	Clear Cell Renal Cell Carcinoma	Rhabdoid clear-cell renal cell carcinoma is transcriptomically distinct and shows a high rate of SETD2 and BAP1 mutations and a low rate of PBRM1 mutations.									
26073078	STED2	Copy Number Loss	Clear Cell Renal Cell Carcinoma	To determine if progressive SETD2 and H3K36me3 dysregulation occurs in metastatic tumors, H3K36me3, SETD2 copy number (CN) or SETD2 mRNA abundance was assessed in two independent cohorts: metastatic ccRCC (n=71) and the Cancer Genome Atlas Kidney Renal Clear Cell Carcinoma data set (n=413). Although SETD2 CN loss occurs with high frequency (>90%), H3K36me3 is not significantly impacted by monoallelic loss of SETD2.									
25932084	STED2	SNP	Breast Carcinoma; Lung Carcinoma; Gynecologic Carcinoma	Our meta-analysis suggested that the HIF-1 rs11549465 (1772C/T) genetic polymorphism is significantly associated with higher risk among Asian population and lower risk among Caucasian population in breast and lung cancer, and this SNP was significantly associated with the gynecologic cancer among Caucasian population.									
25728682	STED2	Mutation	Clear Cell Renal Cell Carcinoma	Consistent with these data, we observe chromosomal breakpoint locations are biased away from H3K36me3 sites in SETD2 wild-type ccRCCs relative to tumours with bi-allelic SETD2 aberrations and that H3K36me3-negative ccRCCs display elevated DNA damage in vivo.									
25714014	STED2	Underexpression	Clear Cell Renal Cell Carcinoma	In the present study, we found that SETD2 was downregulated and inversely correlated with high expression of miR-106b-5p in ccRCC tissues and cell lines.	miR-106b-5p	Negative regulation	In the present study, we found that SETD2 was downregulated and inversely correlated with high expression of miR-106b-5p in ccRCC tissues and cell lines. Over-expression of miR-106b-5p resulted in the decreased mRNA and protein levels of SETD2 in ccRCC cells.						
25535359	STED2	Underexpression	Lung Carcinoma	In human lung cancer datasets, TAp73 strongly predicts good patient prognosis, and its expression is associated with low HIF-1 activation and angiogenesis.									
25528216	STED2	Mutation	Clear Cell Renal Cell Carcinoma	Besides the reported H3K36-trimethylation pathway, we found that SETD2 mutation also mediated MMR via AKT-induced PMS2 decrease and co-loss of MLH1 loss in ccRCC.							MMR; AKT-induced PMS2	Negative regulation	Besides the reported H3K36-trimethylation pathway, we found that SETD2 mutation also mediated MMR via AKT-induced PMS2 decrease and co-loss of MLH1 loss in ccRCC.
25482724	STED2	Mutation	Thymic Carcinoma	Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n = 2; 4%)], chromatin remodeling [SMARCA4 (n = 2; 4%)], and DNA methylation [DNMT3A (n = 3; 7%), TET2 (n = 2; 4%), WT1 (n = 2; 4%)] pathways were recurrently mutated in TCs, but not in thymomas.									
25365943	STED2	Mutation	Renal Cell Carcinoma 	In the past decade, our understanding of the genetic mutations associated with sporadic forms of RCC has increased considerably, with the most common mutations in clear cell RCC seen in the VHL, PBRM1, BAP1, and SETD2 genes.									
24843002	STED2	Mutation	Clear Cell Renal Cell Carcinoma	In agreement, SETD2-mutant clear cell renal cell carcinoma (ccRCC) cells displayed impaired DNA damage signaling.									
24662245	STED2	Mutation	Acute Lymphoblastic Leukemia	Somatic alterations in SETD2, including frameshift and nonsense mutations, are present at 12% in a large de novo ALL patient cohort.									
24576404	STED2	Mutation	Lung Adenocarcinoma	These included targetable genes involved in PI3K/mTOR signaling (TSC1, PIK3CA, AKT2) and receptor tyrosine kinase signaling (ERBB4) and genes not previously highlighted in lung adenocarcinomas, such as SETD2 and PBRM1 (chromatin remodeling), CHEK2 and CDC27 (cell cycle), CUL3 and SOD2 (oxidative stress), and CSMD3 and TFG (immune response). In the expansion cohort (N=70), TP53 was the most frequently altered gene (11%), followed by SETD2 (6%), CSMD3 (6%), ERBB2 (6%), and CDH10 (4%)									
24509477	STED2	Mutation (loss of function)	Acute Leukemia 	Moreover, loss-of-function point mutations in SETD2 were recurrent (6.2%) in 241 patients with acute leukemia and were associated with multiple major chromosomal aberrations.							H3K36me3 	Regulation	We observed a global loss of H3K36 trimethylation (H3K36me3) in leukemic blasts with mutations in SETD2.
24452734	STED2	altered expression	Lung Carcinoma	Hypoxia-inducible factor 1 (HIF-1) has been associated with distant tumor metastasis; however, its function in multiple metastatic processes has not yet been fully elucidated. In the present study, we demonstrated that cancer cells transiently upregulated HIF-1 activity during their metastatic colonization after extravasation in the lungs in hypoxia-independent and reactive oxygen species (ROS)-dependent manners.									
24186201	STED2	genetic aberration	Clear Cell Renal Cell Carcinoma	We have identified decreases in chromatin accessibility at key ccRCC-linked genes, including PBRM1, SETD2 and MLL2.									
24166983	STED2	Mutation	Clear Cell Renal Cell Carcinoma	In this study, targeted sequencing of VHL and JARID1c (entire genes) and coding regions of BAP1, PBRM1, SETD2, and KDM6A was performed on 132 ccRCCs and matched normal tissues. BAP1 (11%), PBRM1 (33%), SETD2 (16%), JARID1c (4%), and KDM6A (3%) mutations were identified.									
24029645	STED2	Mutation	Clear Cell Renal Cell Carcinoma	Mutation frequencies among clear cell RCCs were as follows: VHL, 53.2% (124 of 233); PBRM1, 28.8% (67 of 233); SETD2, 7.3% (17 of 233); KDM5C, 6.9% (16 of 233); and BAP1, 6.0% (14 of 233).									
23867514	STED2	Mutation	Clear Cell Renal Cell Carcinoma	Most genes are mutated at low frequencies, but 3 genes are mutated in more than 10% of ccRCC, PBRM1 (mutated in ~50%), BAP1 (~15%), and SETD2 (~15%).									
23832661	STED2	Mutation	Clear Cell Renal Cell Carcinoma	The four most commonly mutated genes in RCC of clear-cell type (the most common type) are two-hit tumor suppressor genes, and they cluster in a 43-Mb region on chromosome 3p that is deleted in approximately 90% of tumors: VHL (mutated in 80%), PBRM1 (50%), BAP1 (15%), and SETD2 (15%).				PBRM1	Collaboration	Meta-analyses that we conducted show that mutations in PBRM1 and SETD2 co-occur in tumors at a frequency higher than expected by chance alone, indicating that these mutations may cooperate in tumorigenesis.			
23644518	STED2	Hypomethylation	Clear Cell Renal Cell Carcinoma	 PBRM1, KDM6A, SETD2 and BAP1 were unmethylated in all tumor and normal specimens.									
23620406	STED2	Mutation	Clear Cell Renal Cell Carcinoma	These findings were compared with analyses of the genomic and clinical dataset from our nonoverlapping The Cancer Genome Atlas (TCGA) cohort of 421 patients with primary ccRCC. 3p21 tumor suppressors are frequently mutated in both the MSKCC (PBRM1, 30.3%; SETD2, 7.4%; BAP1, 6.4%) and the TCGA (PBRM1, 33.5%; SETD2, 11.6%; BAP1, 9.7%) cohorts.									
23417712	STED2	Mutation (loss of function)	Malignant Glioma	We identified mutations in SETD2, a H3K36 trimethyltransferase, in 15% of pediatric HGGs, a result that was genome-wide significant (FDR = 0.029). SETD2 is the only H3K36 trimethyltransferase in humans, and SETD2-mutant tumors showed a substantial decrease in H3K36me3 levels (P < 0.001), indicating that the mutations are loss-of-function.				H3F3A	Mutual exclusive	Furthermore, SETD2 mutations were mutually exclusive with H3F3A mutations in HGGs (P = 0.0492) while they partly overlapped with IDH1 mutations (4/14), and SETD2-mutant tumors were found exclusively in the cerebral hemispheres (P = 0.0055).			
23036577	STED2	Mutation	Clear Cell Renal Cell Carcinoma	Targeted sequencing was performed in 185 ccRCCs and matched normal tissues from a single institution. Pathologic features, baseline patient characteristics, and follow-up data were recorded. PBRM1, BAP1, SETD2, and KDM5C are mutated at 29%, 6%, 8%, and 8%, respectively. Tumors with mutations in PBRM1 or any of BAP1, SETD2, or KDM5C (19%) are more likely to present with stage III disease or higher (p = 0.01 and p = 0.001, respectively). 									
22237106	STED2	Mutation	 T-cell precursor Acute Lymphoblastic Leukemia	ETP ALL was characterized by activating mutations in genes regulating cytokine receptor and RAS signalling (67% of cases; NRAS, KRAS, FLT3, IL7R, JAK3, JAK1, SH2B3 and BRAF), inactivating lesions disrupting haematopoietic development (58%; GATA3, ETV6, RUNX1, IKZF1 and EP300) and histone-modifying genes (48%; EZH2, EED, SUZ12, SETD2 and EP300).									
22231744	STED2	Overexpression	Breast Carcinoma	Patients with HIF-1 α-overexpressing breast cancers are at increased risk of metastasis and mortality and our results suggest that such patients may benefit from aggressive therapy that includes a HIF inhibitor.									
20953377	STED2	Overexpression	Colon Carcinoma	We investigated the clinicopathologic significance of HIF-1, CXCR4, and VEGF expression using immumohistochemistry in human colon cancer. HIF-1, CXCR4, and VEGF high expression levels were correlated positively with TNM stage, lymph node involvement, and distant metastasis Furthermore, we found that combined high expression of any two of the three molecules (P = .028 for HIF-1/CXCR4, P = .007 for HIF-1/VEGF, and P = .004 for CXCR4/VEGF) had stronger correlation with lymph node metastasis than did each alone.				CXCR4; VEGF	Positive correlation	HIF-1, CXCR4, and VEGF high expression levels were correlated positively with TNM stage, lymph node involvement, and distant metastasis Furthermore, we found that combined high expression of any two of the three molecules (P = .028 for HIF-1/CXCR4, P = .007 for HIF-1/VEGF, and P = .004 for CXCR4/VEGF) had stronger correlation with lymph node metastasis than did each alone.			
20944102	STED2	Underexpression	Breast Carcinoma	The aim of this study was to compare SETD2 expression in breast cancer with that in adjacent non-cancerous breast tissue (ANCT) in paired samples. Levels of SETD2 mRNA were significantly higher in ANCT when compared to those in tumour samples (p=0.01).									
20501857	STED2	Mutation (loss of function)	Clear Cell Renal Cell Carcinoma	This revealed inactivation of the histone methyltransferase gene SETD2, located on 3p21.31, as a common event in cRCC cells. Identification of missense mutations in 2 out of 10 primary cRCC tumor samples added support to the involvement of loss of SETD2 function in the development of cRCC tumors.									
20032376	STED2	Mutation (loss of function)	Renal Cell Carcinoma 	The detection of a loss-of-function HIF1A mutation in a primary RCC is consistent with HIF-1 and HIF-2 having different roles in renal tumourigenesis, However, somatic mutations of HIF1A are not frequently implicated in the pathogenesis of RCC.									
27705736	KMT2A	Mutation	Castrate Resistant Prostate Carcinoma	We describe two cases of metastatic CRPC with a translocation in the MLL gene detected by a specific fluorescent in situ hybridization (FISH) assay.									
26846095	KMT2A	Mutation	Acute Myeloid Leukemia	We present an unusual case of retro-orbital myeloid sarcoma as an initial presentation of acute myeloid leukemia in a 43-year-old Caucasian man, with rearrangement of chromosome 11q23 involving the MLL gene.									
26829724	KMT2A	Copy Number Gain	Acute Lymphoblastic Leukemia	With the eight-probe FISH (using probes for MYC, P16, E2A, CHIC2/D10Z1/D17Z1, TEL/AMLl, MLL, BCR/ABL1, and IGH) and R-banding karyotype analysis, 237 cases of ALL were analyzed. Cytogenetic changes were detected in 135 (56.96%) of all cases, which have involved MYC, P16, E2A, CHIC2/D10Z1/D17Z1, TEL/AMLl, MLL, BCR/ABL1, and IGH polyploidies.									
26237430	KMT2A	Mutation	Acute Myeloid Leukemia	Using next-generation sequencing of primary acute myeloid leukemia (AML) specimens, we identified to our knowledge the first unifying genetic network common to the two subgroups of KMT2A (MLL)-rearranged leukemia, namely having MLL fusions or partial tandem duplications.				ENAH	Fusion	Within this network, we experimentally confirmed upregulation of the gene with the most subtype-specific increase in expression, LOC100289656, and identified cryptic MLL fusions, including a new MLL-ENAH fusion.			
26159683	KMT2A	Mutation	Acute Myeloid Leukemia	Contrary to previous findings, the subtypes of AML with t(9;11)(p22;q23)MLLT3-MLL, AML without maturation and acute myelomonocytic leukemia emerged to be indicative of poor outcome				MLLT3	Fusion	Contrary to previous findings, the subtypes of AML with t(9;11)(p22;q23)MLLT3-MLL, AML without maturation and acute myelomonocytic leukemia emerged to be indicative of poor outcome			
25948177	KMT2A	Mutation	Acute Lymphoblastic Leukemia	Cytogenetic abnormalities of 163 children with newly diagnosed ALL (0-17 years of age) were evaluated by conventional cytogenetic analysis and fluorescent in situ hybridization findings. Chromosome abnormalities were detected in 87.7% of patients (143/163). The ploidy levels most frequently observed among ALL patients were high hyperdiploidy (51-67 chromosomes) (45 cases, 27.6%), Chromosomes X and 21 were gained in 100% of these cases. The most common genetic alterations were t(12;21)/ETV6/RUNX1 (26 cases, 16.0%), followed by t(1;19)/TCF3/PBX1 (13 patients, 8.0%), t(4;11)/MLL rearrangement and t(8;14) IGH/MYC (6 cases, 3.7%), t(9;22)/BCR/ABL(2 cases, 1.2%), and iAMP21 (1 patient, 0.6%). The no-classical structural abnormalities included dup(1q) in 20.2%, del(6q) and del(9p) in 10.4%, del(12p) in 12.9% and del(13q) in 5.5%.									
25919550	KMT2A	Mutation	Acute Lymphoblastic Leukemia	To evaluate the efficiency of one-step multiplex RT-PCR for identifying four common fusion transcripts (TEL/AML1, E2A/PBX1, MLL/AF4 and BCR/ABL) in children with acute lymphoblastic leukemia (ALL). TEL/AML1 was found in 12 cases (the length of products was 298 bp in 9 cases and 259 bp in 3 cases), E2A/PBX1 was found in 3 cases (the length of products was 373 bp), BCR/ABL was found in 1 case (the length of products was 2124 bp), and MLL/AF4 was found in 7 cases (the length of products was 427 bp in 1 case and 673 bp in 6 cases) using one-step multiplex RT-PCR combined with DNA sequencing.				AF4	Fusion	TEL/AML1 was found in 12 cases (the length of products was 298 bp in 9 cases and 259 bp in 3 cases), E2A/PBX1 was found in 3 cases (the length of products was 373 bp), BCR/ABL was found in 1 case (the length of products was 2124 bp), and MLL/AF4 was found in 7 cases (the length of products was 427 bp in 1 case and 673 bp in 6 cases) using one-step multiplex RT-PCR combined with DNA sequencing.			
25892123	KMT2A	Mutation	Acute Myeloid Leukemia	In this report, we describe a case study of a 7-month-old boy who presented with AML-M4; however, no obvious 11q23 rearrangement was detected in the analyzed karyotype. Fluorescence in situ hybridization evaluation showed a nonstandard signal distribution in blast cells, corresponding to the presence of two KMT2A copies and one additional copy of 5'-KMT2A inserted into the long arm of the X chromosome (ins(X;11)(q28;q23q23)).				FLNA	Fusion	Subsequent molecular analysis showed a novel variant form of the previously described KMT2A-FLNA fusion gene, in which the KMT2A intron 9 is fused to the FLNA exon16.			
25843568	KMT2A	Mutation	Acute Lymphoblastic Leukemia	We present a rare case of a child with acute lymphoblastic leukemia with a complex karyotype in which the classical t(9;11) (p22;q23) was cryptically relocated into a third chromosome in a balanced three-way translocation. At the genome level, however, the MLL-MLLT3 three-way translocation still displayed both reciprocal fusion transcripts.				MLLT3	fusion	We present a rare case of a child with acute lymphoblastic leukemia with a complex karyotype in which the classical t(9;11) (p22;q23) was cryptically relocated into a third chromosome in a balanced three-way translocation. At the genome level, however, the MLL-MLLT3 three-way translocation still displayed both reciprocal fusion transcripts.			
25805812	KMT2A	Underexpression; Mutation	Acute Myeloid Leukemia	Here, we investigated the functional and prognostic implications of CXXC5 expression in AML. CXXC5 mRNA was downregulated in AML with MLL rearrangements, t(8;21) and GATA2 mutations. In gene-expression profiling, lower CXXC5 expression was associated with upregulation of cell-cycling genes and co-downregulation of genes implicated in leukemogenesis (WT1, GATA2, MLL, DNMT3B, RUNX1).				CXXC5	Negative correlation	In gene-expression profiling, lower CXXC5 expression was associated with upregulation of cell-cycling genes and co-downregulation of genes implicated in leukemogenesis (WT1, GATA2, MLL, DNMT3B, RUNX1).			
25725124	KMT2A	Mutation	Acute Myeloid Leukemia	Molecular cytogenetics revealed that the MLL gene was disrupted and even partially lost due to a t(10;19;11)(p12.31;q13.31;q23.3), an MLL/MLLT10 fusion appeared, and the der(Y) was an asymmetric inverted duplication with breakpoints in Yp11.2 and Yq11.23.				MLLT10	Fusion	Here we investigated an 11-month-old male presenting with hyperleukocytosis being diagnosed with AML subtype FAB-M5b. In banding cytogenetics a der(19)t(19;)(q13.3;) and del(Y)(q11.23) were found as sole aberrations. Molecular cytogenetics revealed that the MLL gene was disrupted and even partially lost due to a t(10;19;11)(p12.31;q13.31;q23.3), an MLL/MLLT10 fusion appeared, and the der(Y) was an asymmetric inverted duplication with breakpoints in Yp11.2 and Yq11.23.			
25706938	KMT2A	copy number change	Acute Lymphoblastic Leukemia	The recurrently targeted copy number abnormalities involved several leukemia-related genes-CDKN2A/B, MLL, IKZF1, PAX5, RB1, TP53, and ETV6.									
25699572	KMT2A	Mutation	B Acute Lymphoblastic Leukemia	Here we describe a 69-year-old female with adult B cell precursor acute lymphoblastic leukemia (BCP-ALL) with hyperleukocytosis and immunophenotype CD10- and CD19+ with cryptic MLL rearrangements.									
25692130	KMT2A	Mutation	Acute Lymphoblastic Leukemia	 ETV6-RUNX1 was detected in 21 (7.4%) patients, TCF3-PBX1 in 20 (7.1%) patients, BCR-ABL1 in 5 (1.8%) patients, and MLL rearrangements in 4 (1.4%) patients.									
25633166	KMT2A	Underexpression	Larynx Carcinoma	We analyzed the expression profile of 5 MLL genes in 13 cases of larynx carcinoma and their adjacent non-tumor tissues using quantitative real-time PCR. MLL3 was significantly downregulated in tumor samples compared to their normal counterparts, and all MLL genes showed decreased expression in advanced tumors compared to tumors in the initial stage.									
25592767	KMT2A	Underexpression	Leukemia	Histone methyltransferases, including MLL1, DOT1L, EZH2, and SETD2 are recurrently deregulated in human leukemia, either directly by gene mutations or balanced translocations, or indirectly as components of protein complexes that are disturbed in leukemia due to alterations of the other components in these complexes.									
25567132	KMT2A	Mutation	Acute Myeloid Leukemia	High EVI1 expression was detected mainly in myelomonocytic-lineage (designated as e-M4/M5 subtype) leukemia with MLL rearrangements and in megakaryocytic-lineage (designated as e-M7 subtype) leukemia, and its prognostic association was observed in the e-M4/M5 subtype but not in the e-M7 subtype									
25493458	KMT2A	Mutation	bilateral ovarian B-lineage lymphoblastic lymphom	We present a case of an infant with bilateral ovarian B-lineage lymphoblastic lymphoma with MLL gene rearrangement.									
25422805	KMT2A	Mutation	Acute Myeloid Leukemia	We aimed to evaluate the frequency of MLL/AF9 fusion gene in de novo AML patients, its impact on clinical features, and its prognostic significance. Four patients with MLL/AF9 fusion gene were newly diagnosed, two cases were at relapse and no patient at remission showed positivity.				AF9	Fusion	Four patients with MLL/AF9 fusion gene were newly diagnosed, two cases were at relapse and no patient at remission showed positivity.			
25322685	KMT2A	Mutation	Acute Myeloid Leukemia	By performing targeted amplicon sequencing in 38 MLL-AF9(+) and 125 cytogenetically normal AML patient samples, we found a high additional mutation rate for genes involved in growth factor signaling in 79% of all MLL-AF9(+) samples, which could lead to a possible benefit of this cohort.				AF9	Fusion	By performing targeted amplicon sequencing in 38 MLL-AF9(+) and 125 cytogenetically normal AML patient samples, we found a high additional mutation rate for genes involved in growth factor signaling in 79% of all MLL-AF9(+) samples, which could lead to a possible benefit of this cohort.			
25081372	KMT2A	Mutation	Acute Myeloid Leukemia	The specific t(10;11)(p12;q23) MLL translocation is a rare recurrent translocation partner, most commonly seen in pediatric and young adult AML.									
24828867	KMT2A	Mutation	Acute Myeloid Leukemia	Interestingly, we found that EVI1 expression was negatively associated with presence of the Philadelphia chromosome (Ph+) and MLL rearrangements in AML.				EVI1	Negative correlation	Interestingly, we found that EVI1 expression was negatively associated with presence of the Philadelphia chromosome (Ph+) and MLL rearrangements in AML.			
24764564	KMT2A	Mutation	Acute Myeloid Leukemia	We used a functional genetic approach to uncover that AML cells driven by MLL-AF9 are exceptionally reliant on the cell-cycle regulator CDK6, but not its functional homolog CDK4, and that the preferential growth inhibition induced by CDK6 depletion is mediated through enhanced myeloid differentiation.				AF9; CDK6	Fusion; reliance	We used a functional genetic approach to uncover that AML cells driven by MLL-AF9 are exceptionally reliant on the cell-cycle regulator CDK6, but not its functional homolog CDK4, and that the preferential growth inhibition induced by CDK6 depletion is mediated through enhanced myeloid differentiation.			
24744582	KMT2A	Mutation	Gastric Carcinoma	Mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) have been found in 47% of GCs.									
24739837	KMT2A	Mutation	Acute Lymphoblastic Leukemia	We report a case of CD10+, CD19- pediatric ALL with rearrangements of MLL gene as a result of t(9;11)(p21;q23), thus conferring a very poor prognosis.									
24695851	KMT2A	Mutation	Acute Myeloid Leukemia	Altogether, these data point to a novel role of the MLL-AF6 chimera and show that its gene partner, AF6, is crucial in AML development.				AF6	Fusion	Altogether, these data point to a novel role of the MLL-AF6 chimera and show that its gene partner, AF6, is crucial in AML development.			
24659740	KMT2A	Mutation	Acute Myeloid Leukemia	In multivariate analysis, the independent predictors of higher cumulative incidence of relapse were unfavorable karyotype (P = 0.013) and randomization in the control arm (P = 0.007) in the whole cohort, and MLL partial tandem duplications (P = 0.014) and DNMT3A mutations (P = 0.010) in CN-AML.									
24612538	KMT2A	Mutation	Acute Leukemia 	A total of 84 patients with acute leukemia (AL) who had MLL rearrangements detected by florescence in situ hybridization (FISH) were enrolled in the study.									
24564228	KMT2A	Mutation	Acute Leukemia 	Acute leukemia in early age (EAL) is characterized by acquired genetic alterations such as MLL rearrangements (MLL-r). IKZF1 and CEBPE variants seem to play a minor role in genetic susceptibility to EAL, while ARID5B rs10821936 increased the risk of MLL-MLLT3.				MLLT3; ARID5B	Fusion; association	IKZF1 and CEBPE variants seem to play a minor role in genetic susceptibility to EAL, while ARID5B rs10821936 increased the risk of MLL-MLLT3.			
24370025	KMT2A	Mutation	Acute Myeloid Leukemia	This study was aimed to explore the value of detecting the expression levels of MLL-AF9 (mixed lineage leukemia, MLL) fusion gene during the treatment of acute myeloid leukemia (AML) by real-time fluorescence quantitative PCR (RQ-PCR), and to evaluate its prognostic significance in monitoring minimal residual disease (MRD). The results showed that the expression levels of MLL-AF9 fusion gene in patients at initial diagnosis were 1.3%-55.28%.				AF9	Fusion	The results showed that the expression levels of MLL-AF9 fusion gene in patients at initial diagnosis were 1.3%-55.28%.			
24310817	KMT2A	Mutation	Therapy related acute Leukemia	Using asymmetric multiplex PCR strategy followed by direct DNA sequencing, we characterized the genomic breakpoints of the MLL and AFF1 genes in two patients who developed t-AL with t(4;11)(q21;q23).									
24156422	KMT2A	Mutation	Acute Erythroleukemia	The aim of this study was to investigate the clinical characteristics and prognosis of acute erythroleukemia (AEL, AML-M6). The molecular biological detection found that the poor prognosis gene existed in 5 cases [38.5% (5/13)], including 3 cases with MLL-MLL fusion gene, 1 case with MLL mutation, and 1 cases with NRAS gene mutation, the abnormal genes were not detected in remainder 8 cases.				MLL	Fusion	The molecular biological detection found that the poor prognosis gene existed in 5 cases [38.5% (5/13)], including 3 cases with MLL-MLL fusion gene, 1 case with MLL mutation, and 1 cases with NRAS gene mutation, the abnormal genes were not detected in remainder 8 cases.			
24150221	KMT2A	Mutation	Leukemia	RNA-seq analysis showed reversible global gene expression patterns between these interchangeable leukemia and iPS cells on activation or reactivation of MLL-AF9, suggesting a sufficient epigenetic force in driving the leukemogenic process.				AF9	Fusion	RNA-seq analysis showed reversible global gene expression patterns between these interchangeable leukemia and iPS cells on activation or reactivation of MLL-AF9, suggesting a sufficient epigenetic force in driving the leukemogenic process.			
24057258	KMT2A	Mutation	Acute Lymphoblastic Leukemia	In this study, we showed that microRNA (miR)-142-3p was significantly downregulated in ALL patients expressing MLL-AF4.	miR-142-3p	Negative regulation	Upregulation of miR-142-3p decreased MLL-AF4 expression in the RS4;11 leukemic cell line, which suggests that MLL-AF4 is a direct target of miR-142-3p.	AF4	Fusion	In this study, we showed that microRNA (miR)-142-3p was significantly downregulated in ALL patients expressing MLL-AF4.	HOXA9; HOXA7; HOXA10	Positive regulation	We also found that exogenous expression of miR-142-3p strongly reduced the expression of MLL-AF4 target genes such as homeobox A (HOXA)9, HOXA7, and HOXA10 in RS4;11 cells.
23893660	KMT2A	Mutation	B Acute Lymphoblastic Leukemia	To gain insight into the genomic landscape of infant MLL-AF4 pro-B ALL we performed whole genome sequencing of diagnostic leukemic blasts and matched germline samples from three MLL-AF4 pro-B ALL infants. Our analysis revealed few somatic changes (copy number abnormalities, loss of heterozygosity, or single nucleotide variants), demonstrating that only a very small number of mutations are necessary to generate infant MLL-leukemia.									
23823658	KMT2A	Mutation	Acute Lymphoblastic Leukemia	 In univariate analyses, age (�?0 years), white blood cell counts (>100 × 10(9)/l), t(9;22)(q34;q11), MLL rearrangements, near-haploidy and deletions of ATP10A, IKZF1, SPRED1 and the pseudoautosomal 1 regions on Xp/Yp were significantly associated with decreased 10-year event-free survival, with IKZF1 abnormalities being an independent risk factor in multivariate analysis irrespective of the risk group.									
23754336	KMT2A	Underexpression	Breast Carcinoma	In the present study, we used quantitative PCR to investigate the expression profile of all five MLL genes [MLL (ALL-1), MLL2, MLL3, MLL4 and MLL5] in 7 breast cancer cell lines, 8 breast tumors and adjacent non-tumor tissues and in 12 normal tissues. We observed a diminished expression of all five genes in the breast cancer cell lines when compared to normal breast tissue.									
23728943	KMT2A	Mutation	Hepatocellular Carcinoma	The NFE2L2-KEAP1 and MLL pathways are recurrently mutated in multiple cohorts of HCC.									
23676645	KMT2A	Mutation	Acute Leukemia 	The leukemia cells exhibited myeloid (CD13 and MPO) and B cell (CD19 and CD79a) phenotypes. Chromosomal analysis and RT-PCR assay revealed tumor cells with the MLLT3-MLL fusion gene.				MLL3T	Fusion	We report a patient with mixed phenotype acute leukemia with MLLT3-MLL.			
23666221	KMT2A	Mutation	Acute Myeloid Leukemia	We here report a 2-year-old female with relapsed acute myeloid leukemia (AML) with MLL gene rearrangement in the bone marrow and central nervous system.				MLLT10	Fusion	The 3'-RACE (Rapid Amplification of cDNA Ends) method identified the MLLT10 gene as a fusion partner of the MLL gene.			
23649466	KMT2A	Mutation	Leukemia	Leukemias carrying MLL rearrangements are quintessential cancers driven by dysregulated epigenetic mechanisms in which fusion proteins containing N-terminal sequences of MLL require few or perhaps no additional mutations to cause human leukemia.									
23630019	KMT2A	Mutation	Acute Myeloid Leukemia	Their 4-year overall survival (OS) and event-free survival (EFS) were poor (33.3% in NUP98-NSD1-positive and 38.9% in NUP98-NSD1-like patients) compared with 100 NUP98-NSD1 signature-negative patients (4-year OS: 86.0%, 4-year EFS: 72.0%). Interestingly, t(7;11)(p15;p15)/NUP98-HOXA13, t(6;11)(q27;q23)/MLL-MLLT4 and t(6;9)(p22;q34)/DEK-NUP214, which are known as poor prognostic markers, were found in NUP98-NSD1-like patients. 				MLLT4	Fusion	Their 4-year overall survival (OS) and event-free survival (EFS) were poor (33.3% in NUP98-NSD1-positive and 38.9% in NUP98-NSD1-like patients) compared with 100 NUP98-NSD1 signature-negative patients (4-year OS: 86.0%, 4-year EFS: 72.0%). Interestingly, t(7;11)(p15;p15)/NUP98-HOXA13, t(6;11)(q27;q23)/MLL-MLLT4 and t(6;9)(p22;q34)/DEK-NUP214, which are known as poor prognostic markers, were found in NUP98-NSD1-like patients.			
23591360	KMT2A	Mutation	Acute Lymphoblastic Leukemia	Infant ALL Interfant-99 study found that MLL rearrangement, age younger than 6 months, poor response to a prednisone prophase and high WBC count were strong independent predictive factors for poor prognosis in infants with ALL.									
23484688	KMT2A	Mutation	Acute Promyelocytic Leukemia	This study was aimed to explore whether multiple common gene mutations of leukemia synergistically involved in acute promyelocytic leukemia (APL) pathogenesis, and to investigate their relevance to clinical features, cytogenetics and molecular risk stratification. Next, there were 12 cases WT1 mutation, 9 for FLT3-TKD, 7 for TET2, 5 for N-RAS, 4 for ASXL1, 2 for EZH2 mutation and 1 positive case in MLL-PTD, IDH1 and CBL mutation respectively.				PTD	Fusion	Next, there were 12 cases WT1 mutation, 9 for FLT3-TKD, 7 for TET2, 5 for N-RAS, 4 for ASXL1, 2 for EZH2 mutation and 1 positive case in MLL-PTD, IDH1 and CBL mutation respectively.			
23432364	KMT2A	Mutation	Acute Myeloid Leukemia	Moreover, we present first evidence that MLL-r patients with poor outcome preferentially displayed chromosomal breakpoints within MLL intron 11. Based on the literature, most MLL-r IL display a breakpoint localization towards intron 11, which in turn may explain their worse clinical course. In summary, the MLL breakpoint localization is of clinical importance and should be considered as a novel outcome predictor for MLL-r patients.									
26030291	KMT2A	Mutation	Chronic Myeloid Leukemia	We present unusual cytogenetic findings in a 65-year-old female with blast phase (BC) of Philadelphia chromosome positive chronic myeloid leukemia (CML). Fluorescence in situ hybridization (FISH) testing confirmed that the t(11;19) involved the MLL gene on 11q23.									
23259788	KMT2A	Mutation	Gastric Carcinoma; Clear Renal Carcinoma	We found MLL, MLL2, MLL3 and MLL5 frameshift mutations in two (one GC and one CRC), three (one GC and two CRC), 17 (14 GC and three CRC) and six (four GC and two CRC) cancers, respectively.									
23269277	KMT2A	Copy Number Gain	B Acute Lymphoblastic Leukemia	Although MLL amplification has been reported in therapy-related myeloid disease, to our knowledge this is the first report of MLL amplification occurring in therapy-related B cell ALL.									
23225048	KMT2A	Mutation	Acute Myeloid Leukemia	Karyotypes of 234 cases of de novo childhood AML were analyzed using short-term culture of bone marrow cells and R-banding. The fusion transcripts involving MLL gene and partial tandem duplication of MLL (MLL-PTD) were detected by multiple reverse transcription polymerase chain reaction (RT-PCR) assay.				PTD	Fusion	The fusion transcripts involving MLL gene and partial tandem duplication of MLL (MLL-PTD) were detected by multiple reverse transcription polymerase chain reaction (RT-PCR) assay.			
23210573	KMT2A	Mutation	Acute Lymphoblastic Leukemia	Our RT-nPCR assay had a positive detection rate of 35.15% (90/256) for the 10 fusion genes. BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively.				AF10; ENL; AF4	Fusion	Our RT-nPCR assay had a positive detection rate of 35.15% (90/256) for the 10 fusion genes. BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively.			
23132946	KMT2A	Mutation	Acute Myeloid Leukemia	Through a large-scale, genome-wide miRNA expression profiling assay of 85 human AML and 15 normal control samples, we show that among 48 miRNAs that are significantly differentially expressed between MLL- and non-MLL-rearranged AML samples, only one (miR-495) is expressed at a lower level in MLL-rearranged AML than in non-MLL-rearranged AML; meanwhile, miR-495 is also significantly down-regulated in MLL-rearranged AML samples compared with normal control samples.							miR-495	Negative regulation	Through a large-scale, genome-wide miRNA expression profiling assay of 85 human AML and 15 normal control samples, we show that among 48 miRNAs that are significantly differentially expressed between MLL- and non-MLL-rearranged AML samples, only one (miR-495) is expressed at a lower level in MLL-rearranged AML than in non-MLL-rearranged AML; meanwhile, miR-495 is also significantly down-regulated in MLL-rearranged AML samples compared with normal control samples.
23127113	KMT2A	Mutation	Neuroendocrine Neoplasm	Applying microarray based sequence capture resequencing including 4,935 Exons from of 203 cancer-associated genes and high-resolution copy number and genotype analysis identified multiple somatic mutations in the primary NET, affecting BRCA2, CTNNB1, ERCC5, HNF1A, KIT, MLL, RB1, ROS1, SMAD4, and TP53.									
23114129	KMT2A	Mutation	Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia	The results showed that the incidence of MLL rearrangements in adult patients with AL was low (8.2%), and MLL-AF4 fusion gene was most common and predominant in acute lymphoblastic leukemia (ALL), while the MLL-AF6 and MLL-AF9 were most frequent in acute myeloid leukemia (AML).				AF4; AF6; AF9	Fusion	The results showed that the incidence of MLL rearrangements in adult patients with AL was low (8.2%), and MLL-AF4 fusion gene was most common and predominant in acute lymphoblastic leukemia (ALL), while the MLL-AF6 and MLL-AF9 were most frequent in acute myeloid leukemia (AML).			
23091311	KMT2A	Mutation	Acute Leukemia 	A total of 121 diagnostic acute leukemia specimens were studied, comparing the mRT-PCR system with standard cytogenetics. Fifty-six cases (46.3%) had fusion transcripts revealed by our mRT-PCR assay. The concordance rate between mRT-PCR and cytogenetics was 91.7%. However, false negative results were found in three cases who have inv(16), t(4;11) or t(11;19)(q23;p13.1), respectively. Seven cryptic translocations including ETV6-RUNX1, MLL-MLLT3, MLL-MLLT4, and PML-RARA were detected.				MLLT3; MLLT4	Fusion	A total of 121 diagnostic acute leukemia specimens were studied, comparing the mRT-PCR system with standard cytogenetics. Fifty-six cases (46.3%) had fusion transcripts revealed by our mRT-PCR assay. The concordance rate between mRT-PCR and cytogenetics was 91.7%. However, false negative results were found in three cases who have inv(16), t(4;11) or t(11;19)(q23;p13.1), respectively. Seven cryptic translocations including ETV6-RUNX1, MLL-MLLT3, MLL-MLLT4, and PML-RARA were detected.			
22993334	KMT2A	Mutation	Acute Lymphoblastic Leukemia	Gene expression profiling (GEP) was performed for four adult patients with ALL. Their signatures were compared to those of ALL patients with a fusion gene involving c-abl oncogene 1, non-receptor tyrosine kinase (ABL1). The comparison of MLL-AFF1 cases with the ABL1 group identified 477 genes being differentially expressed at the statistically significant level of p<0.05, with 296 and 181 genes up- and down-regulated, respectively, in the MLL-AFF1 cases.				AFF1	Fusion	Gene expression profiling (GEP) was performed for four adult patients with ALL. Their signatures were compared to those of ALL patients with a fusion gene involving c-abl oncogene 1, non-receptor tyrosine kinase (ABL1). The comparison of MLL-AFF1 cases with the ABL1 group identified 477 genes being differentially expressed at the statistically significant level of p<0.05, with 296 and 181 genes up- and down-regulated, respectively, in the MLL-AFF1 cases.			
22927255	KMT2A	Mutation	T Acute Lymphoblastic Leukemia	In addition, they were investigated for common genetic lesions known in T-ALL. Twenty-two cases (9.5%) showed an abnormal MLL signal by FISH analysis. Most of these appeared to be deletions or gains but in five cases (2.1%) a chromosomal translocation involving the MLL gene was identified.				AF6; ELL	Fusion	Three T-ALLs had an MLL-AF6/t(6;11) and two biphenotypic leukemias had an MLL-ELL/t(11;19).			
22902925	KMT2A	Mutation	Acute Myeloid Leukemia	Although MLL-AF9 caused by the chromosomal translocation t(9;11) has a critical role in acute myeloid leukemia, the molecular pathogenesis is poorly understood. Here, we identified that the cell fate determination factor DACH1 is directly up-regulated by MLL-AF9.				AF9	Fusion	Here, we identified that the cell fate determination factor DACH1 is directly up-regulated by MLL-AF9.	DACH1	Positive regulation	Here, we identified that the cell fate determination factor DACH1 is directly up-regulated by MLL-AF9.
22886961	KMT2A	Mutation	Acute Myeloid Leukemia	The results showed that except unqualified samples, fusion genes were detected by multiplex RT-PCR in 211 of 474 patients (44.51%), including AML1-ETO, CBFβ-MYH11, PML-RARα, PLZF-RARα, NPM-RARα, MLL rearrangements, BCR-ABL, DEK-CAN, SET-CAN, TEL-PDGFR, TLS-ERG, AML1-MDS1 (EVI-1).									
22854283	KMT2A	Mutation	Acute Myeloid Leukemia	This unusual break site results in the creation of two in-frame MLL-MLLT11 fusion transcripts in this acute myeloid leukemia patient with t(1;11)(q21;q23).				MLLT11	Fusion	This unusual break site results in the creation of two in-frame MLL-MLLT11 fusion transcripts in this acute myeloid leukemia patient with t(1;11)(q21;q23).			
22846743	KMT2A	Mutation	Acute Lymphoblastic Leukemia; Leukemia	In the group of patients with acute lymphoblastic leukemia and an identified MLL fusion partner, 47% showed the presence of an MLL-AFF1 fusion, as a result of a t(4;11). In the remaining cases, a MLL-MLLT3 (27%), a MLL-MLLT1 (20%), or MLL-MLLT4 (7%) rearrangement was found.				AFF1; MLLT3; MLLT1; MLLT4	Fusion	In the group of patients with acute lymphoblastic leukemia and an identified MLL fusion partner, 47% showed the presence of an MLL-AFF1 fusion, as a result of a t(4;11). In the remaining cases, a MLL-MLLT3 (27%), a MLL-MLLT1 (20%), or MLL-MLLT4 (7%) rearrangement was found.			
22845170	KMT2A	Mutation	Acute Myeloid Leukemia	MLL rearrangements were analysed in the blood of a patient receiving chemotherapy for diffuse large B-cell lymphoma using inverse polymerase chain reaction targeting exon 12, parallel sequencing and a custom algorithm design. 				MLLT3; NKD1	Fusion	Of thirteen MLL rearrangements detected, five were capable of generating MLL fusion genes, including MLL-MLLT3, the most common fusion in acute myeloid leukaemia (AML). Other fusions, all previously clinically unobserved, included MLL-NKD1, a fusion to the negative regulator of Wnt/β-catenin signaling, a pathway linked to leukaemic cell proliferation.	Wnt/β-catenin signaling	Negative regulation	Other fusions, all previously clinically unobserved, included MLL-NKD1, a fusion to the negative regulator of Wnt/β-catenin signaling, a pathway linked to leukaemic cell proliferation.
22781718	KMT2A	Mutation	Acute Lymphoblastic Leukemia	Among these 55 ALL cases TEL/AML1, bcr-abl and MLL fusion genes were observed in 16 (29.1%), 3(5.5%) and 2(3.6%) cases, respectively.									
22682626	KMT2A	Mutation	Acute Myeloid Leukemia	We characterized a new three-way translocation involving MLL in an infant with acute myeloid leukemia who subsequently relapsed and underwent a hematopoietic stem cell transplant from an unrelated stem cell donor. The two reciprocal MLL fusion sites were cloned by long-distance inverse polymerase chain reaction, which led to the identification of MLL-MLLT11 and the reciprocal MYO18A-MLL fusion alleles.				MLLT11; MYO18A	Fusion	We characterized a new three-way translocation involving MLL in an infant with acute myeloid leukemia who subsequently relapsed and underwent a hematopoietic stem cell transplant from an unrelated stem cell donor. The two reciprocal MLL fusion sites were cloned by long-distance inverse polymerase chain reaction, which led to the identification of MLL-MLLT11 and the reciprocal MYO18A-MLL fusion alleles.			
22634756	KMT2A	Mutation	Hepatocellular Carcinoma	Statistical and functional analyses yielded a list of recurrently mutated genes. Multiple chromatin regulators, including ARID1A, ARID1B, ARID2, MLL and MLL3, were mutated in 50% of the tumors.									
22615413	KMT2A	Mutation	Therapy related acute Leukemia	We find that 2-3% of MLL alleles undergoing transcription do so in close proximity to one of its recurrent translocation partner genes, AF9 or AF4, consistent with their sharing transcription factories. 				AF9; AF4	Fusion	We find that 2-3% of MLL alleles undergoing transcription do so in close proximity to one of its recurrent translocation partner genes, AF9 or AF4, consistent with their sharing transcription factories. We show that most etoposide-induced chromosome breaks in the MLL locus and the overall genotoxicity of etoposide are dependent on topoisomerase IIβ, but that topoisomerase IIα and -β occupancy and etoposide-induced DNA cleavage data suggest factors other than local topoisomerase II concentration determine specific clustering of MLL translocation breakpoints in t-AML.			
22484628	KMT2A	Mutation	Gastric Carcinoma	Frequent mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) also occurred in 47% of the gastric cancers.									
22353710	KMT2A	Mutation	Leukemia	Here we show that they are direct targets of miRNA-196b, a microRNA (miRNA) located adjacent to and co-expressed with HOXA9, in MLL-rearranged leukaemic cells.									
22238115	KMT2A	Mutation	Acute Lymphoblastic Leukemia	We here report the frequency of TEL-AML1, E2A-PBX1, MLL-AF4, and BCR-ABL chimeric transcripts in 264 Iraqi children newly diagnosed with acute lymphoblastic leukemia (ALL), using FTA cards impregnated with bone marrow aspirate or whole blood.									
22213861	KMT2A	Mutation	B Acute Lymphoblastic Leukemia	MLL rearrangement was found in 12 cases, mainly pro-B ALL.									
22213612	KMT2A	Mutation	B Cell Lymphoblastic Lymphoma	Here we present a case of hypothalamic obesity syndrome as the primary presentation of a toddler found to have CNS+ B-cell lymphoblastic lymphoma. Cytogenetic studies on diagnostic cerebrospinal fluid revealed MLL gene rearrangement (11q23).									
22150308	KMT2A	Mutation	Acute Myeloid Leukemia	Aberrant expression of these homeodomain transcription factors is found in AML with chromosomal translocations involving the MLL, MYST3 and CREBBP genes, and in a poor prognosis subset with normal cytogenetics.							Hoemodomain transcription factors	Regulation	Aberrant expression of these homeodomain transcription factors is found in AML with chromosomal translocations involving the MLL, MYST3 and CREBBP genes, and in a poor prognosis subset with normal cytogenetics.
22052166	KMT2A	Mutation; Copy Number Gain	B Cell Lymphoblastic Lymphoma	Here, we describe a pediatric B-LBL patient who presented with extensive abdominal involvement and whose lymphoma cells displayed segmental duplication of the mixed lineage leukemia (MLL) gene. MLL duplication/amplification has been described primarily in acute myeloid leukemia and myelodysplastic syndrome with no published reports of discrete MLL duplication/amplification events in B-LBL.									
21953510	KMT2A	Mutation	Acute Lymphoblastic Leukemia	We analyzed 12 MLL/ENL positive ALL patients consecutively diagnosed between 1999 and 2009. The MLL/ENL fusion was identified in 4/150 (2.6%), 8/993 (0.8%), and 0/70 of pediatric, adult, and elderly patients, respectively.				ENL	Fusion	We analyzed 12 MLL/ENL positive ALL patients consecutively diagnosed between 1999 and 2009. The MLL/ENL fusion was identified in 4/150 (2.6%), 8/993 (0.8%), and 0/70 of pediatric, adult, and elderly patients, respectively.			
21937695	KMT2A	Mutation	Acute Myeloid Leukemia	 Both the co-occurrence of high BRE expression with MLL-AF9 and its prognostic impact were confirmed in an independent cohort of 436 AML patients.				AF9	Fusion	High BRE expression was mutually exclusive with FLT3 ITD, CEBPA, IDH1, and IDH2 mutations, EVI1 overexpression, and favorable karyotypes. In contrast, high BRE expression co-occurred strongly with FAB M5 morphology and MLL-AF9 fusions. Within the group of MLL-AF9-positive patients, high BRE expression predicted superior survival, while normal BRE expression predicted extremely poor survival (5-year overall survival of 80% vs 0%, respectively, P = .0002). Both the co-occurrence of high BRE expression with MLL-AF9 and its prognostic impact were confirmed in an independent cohort of 436 AML patients.			
21900057	KMT2A	Mutation	B cell Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia	Between 1995 and 2010, 27 patients with an acute leukemia were found to have a fusion gene involving MLL. All seven ALL patients with B cell acute lymphoblastic leukemia were characterized by the MLL/AFF1 fusion gene resulting from a translocation (5 patients) or an insertion (2 patients). In the 19 AML patients with acute myeloblastic leukemia, 31.6% of all characterized MLL fusion genes were MLL/MLLT3, 21.1% MLL/ELL, 10.5% MLL/MLLT6 and 10.5% MLL/EPS15.				AFF1; MLLT3; ELL; MLLT6; EPS15; KIAA0284; FLNA	Fusion	All seven ALL patients with B cell acute lymphoblastic leukemia were characterized by the MLL/AFF1 fusion gene resulting from a translocation (5 patients) or an insertion (2 patients). In the 19 AML patients with acute myeloblastic leukemia, 31.6% of all characterized MLL fusion genes were MLL/MLLT3, 21.1% MLL/ELL, 10.5% MLL/MLLT6 and 10.5% MLL/EPS15. Two patients had rare or undescribed fusion genes, MLL/KIAA0284 and MLL/FLNA.			
21822268	KMT2A	genetic aberration	Transitional Cell Carcinoma	Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC.									
21764696	KMT2A	Mutation	Acute Myeloid Leukemia	With multiprobe FISH panel, 22 of the 40 AML cases were found to carry 7 types of cytogenetic abnormalities, namely AML1/ETO transfusion gene, PML-RARα transfusion gene, MLL breakapart, P53 deletion, Del(5q), -7/Del(7q) and trisomy 8.									
21741597	KMT2A	Mutation	Larynx Carcinoma	We identified the MLL-fusion targets in an MLL-AF9 leukemia model, and conducted epigenetic profiling for H3K79me2, H3K4me3, H3K27me3, and H3K36me3 in hematopoietic progenitor and leukemia stem cells (LSCs). We found abnormal profiles only for H3K79me2 on MLL-AF9 fusion target loci in LSCs.	Dot1l	Positive regulation	Inactivation of Dot1l led to downregulation of direct MLL-AF9 targets and an MLL translocation-associated gene expression signature, whereas global gene expression remained largely unaffected. Suppression of MLL translocation-associated gene expression corresponded with dependence of MLL-AF9 leukemia on Dot1l in vivo. These data point to DOT1L as a potential therapeutic target in MLL-rearranged leukemia.	AF9	Fusion	We identified the MLL-fusion targets in an MLL-AF9 leukemia model, and conducted epigenetic profiling for H3K79me2, H3K4me3, H3K27me3, and H3K36me3 in hematopoietic progenitor and leukemia stem cells (LSCs). We found abnormal profiles only for H3K79me2 on MLL-AF9 fusion target loci in LSCs.			
21738341	KMT2A	Mutation	Acute Lymphoblastic Leukemia	The most common cytogenetic aberrations in acute myeloid leukemia patients was PML/PARA, followed by AML1/MGT8 and MLL1, and in acute lymphoid leukemia patients was BCR/ABL, followed by TEL/AML1 and MLL1 gene rearrangement.									
21706045	KMT2A	Mutation	Acute Lymphoblastic Leukemia	In this study, we show that miR-143 was identified as a regulator of MLL-AF4 expression in MLL-AF4 ALL samples.	miR-143	Negative regulation	Restoration of miR-143 in MLL-AF4-positive RS4;11 and MV4-11 cells induced apoptosis, negatively contributing to leukemia cell growth by reducing MLL-AF4 fusion protein levels.	AF4	Fusion	In this study, we show that miR-143 was identified as a regulator of MLL-AF4 expression in MLL-AF4 ALL samples.			
21665178	KMT2A	Mutation	Acute Myeloid Leukemia	In acute myeloid leukemia (AML), the mixed lineage leukemia (MLL) gene may be rearranged to generate a partial tandem duplication (PTD), or fused to partner genes through a chromosomal translocation (tMLL). In this study, we first explored the differentially expressed genes between MLL-PTD and tMLL using gene expression profiling of our cohort (15 MLL-PTD and 10 tMLL) and one published data set.									
21549623	KMT2A	Mutation	B cell acute lymphoblastic Lymphoma	We performed a comprehensive study using FISH, G-banding and IHC to identify PAX5 deletion and expression in 102 CD19+ clinical B-ALL cases (79 children and 33 adults) and investigated its relationship with common cytogenetic changes including BCR-ABL1, ETV6-RUNX1 and MLL rearrangements, and CDKN2A deletion.									
21518926	KMT2A	Mutation	Leukemia	By comparing patient-derived leukemic cell lines, we find that MLL fusion-bound genes are a small subset of that recognized by wild-type MLL. In an inducible MLL-ENL model, MLL fusion protein binding and changes in H3K79 methylation are limited to a specific portion of the genome, whereas wild-type MLL distributes to a much larger set of gene loci. Surprisingly, among 223 MLL-ENL-bound genes, only 12 demonstrate a significant increase in mRNA expression on induction of the fusion protein.									
21474990	KMT2A	Mutation	Acute Lymphoblastic Leukemia	The chromosome band 11q23 is a common target region of chromosomal translocation in different types of leukemia, including infantile leukemia and therapy-related leukemia. The target gene at 11q23, MLL, is disrupted by the translocation and becomes fused to various translocation partners. We report a case of AML with a rare 3-way translocation involving chromosomes 1, 9, and 11: t(1;9;11)(p34.2;p22;q23). A 3-yr-old Korean girl presented with a 5-day history of fever.				MLLT3	Fusion	To our knowledge, this is the first description of t(1;9;11) with clinical and laboratory data, including the data for the involved genes, MLL/MLLT3.			
21436736	KMT2A	Mutation	Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia	MLL-AF4 fusion/t(4;11) was detected in 3 out of 265 ALL and MLL-AF9 fusion/t(9;11) in 4 out of 103 of AML.				AF4; AF9	Fusion	MLL-AF4 fusion/t(4;11) was detected in 3 out of 265 ALL and MLL-AF9 fusion/t(9;11) in 4 out of 103 of AML.			
21239865	KMT2A	Mutation	Therapy related acute Leukemia	Here, we report a case of t-ALL with t(11;19)(q23;p13.3) and MLL-MLLT1 (alias ENL) gene rearrangement confirmed by cytogenetic analysis, multiplex reverse transcription-PCR (multiplex RT-PCR), and DNA sequencing in a patient who had undergone treatment for breast cancer.				MLLT1	Fusion	Here, we report a case of t-ALL with t(11;19)(q23;p13.3) and MLL-MLLT1 (alias ENL) gene rearrangement confirmed by cytogenetic analysis, multiplex reverse transcription-PCR (multiplex RT-PCR), and DNA sequencing in a patient who had undergone treatment for breast cancer.			
21156246	KMT2A	Mutation	Acute Myeloid Leukemia	We describe a 14-year-old boy with OS of the left ileum who developed secondary AML 15 months after completion of treatment. Cytogenetic analysis of the leukemic cells demonstrated deletion 11q23, whereas fluorescence in situ hybridization revealed rearrangement of the MLL gene. Only the addition of the long-distance inverse polymerase chain reaction technique identified the SEPT2 as the MLL fusion partner resulting in t(2;11)(q37;q23) that was reported in a very few secondary AML cases				SEPT2	Fusion	We describe a 14-year-old boy with OS of the left ileum who developed secondary AML 15 months after completion of treatment. Cytogenetic analysis of the leukemic cells demonstrated deletion 11q23, whereas fluorescence in situ hybridization revealed rearrangement of the MLL gene. Only the addition of the long-distance inverse polymerase chain reaction technique identified the SEPT2 as the MLL fusion partner resulting in t(2;11)(q37;q23) that was reported in a very few secondary AML cases			
21123134	KMT2A	Mutation	Leukemia	Therefore we developed a flow cytometric immunobead assay for detection of fusion proteins in lysates of leukemia cell samples by use of a bead-bound catching antibody against one side of the fusion protein and fluorochrome-conjugated detection antibody. So far, we have been able to design such fusion protein immunobead assays for BCR-ABL, PML-RARA, TEL-AML1, E2A-PBX1, MLL-AF4, AML1-ETO and CBFB-MYH11.				AF4	Fusion	Therefore we developed a flow cytometric immunobead assay for detection of fusion proteins in lysates of leukemia cell samples by use of a bead-bound catching antibody against one side of the fusion protein and fluorochrome-conjugated detection antibody. So far, we have been able to design such fusion protein immunobead assays for BCR-ABL, PML-RARA, TEL-AML1, E2A-PBX1, MLL-AF4, AML1-ETO and CBFB-MYH11.			
20869771	KMT2A	Mutation	Leukemia	Overall, these results demonstrate that in t(4;11) leukemia, the MLL-AF4 fusion protein is critical for leukemia cell proliferation and survival while the AF4-MLL fusion product is dispensable.				AF4	Fusion	Overall, these results demonstrate that in t(4;11) leukemia, the MLL-AF4 fusion protein is critical for leukemia cell proliferation and survival while the AF4-MLL fusion product is dispensable.			
20686504	KMT2A	Mutation	Acute Lymphoblastic Leukemia	We examined the influence of MLL/AF4 and AML1/MTG8 fusion genes on the expression of TERT coding for the telomerase protein subunit, and subsequently telomerase activity in t(4;11)-positive ALL and t(8;21)-positive cell lines, respectively.				AF4	Fusion	We examined the influence of MLL/AF4 and AML1/MTG8 fusion genes on the expression of TERT coding for the telomerase protein subunit, and subsequently telomerase activity in t(4;11)-positive ALL and t(8;21)-positive cell lines, respectively.			
20682395	KMT2A	Mutation	Acute Myeloid Leukemia	We report a case of acute myeloid leukemia (AML) with two unrelated clones, one of which was t(11;17)(q23;q25) carrying MLL-SEPT9 fusion transcripts.				SEPT9	Fusion	We report a case of acute myeloid leukemia (AML) with two unrelated clones, one of which was t(11;17)(q23;q25) carrying MLL-SEPT9 fusion transcripts.			
20638125	KMT2A	Mutation	B Acute Lymphoblastic Leukemia	Four novel monoallelic missense and two novel monoallelic synonymous mutations (G198R, R225Q, D486G, R509K, S388S and Q540Q) were identified in 9 B-ALL, of whom 7 cases carried BCR-ABL gene, one carried MLL-AF4 fusion gene, and one lost two chromosomes.				AF4	Fusion	Four novel monoallelic missense and two novel monoallelic synonymous mutations (G198R, R225Q, D486G, R509K, S388S and Q540Q) were identified in 9 B-ALL, of whom 7 cases carried BCR-ABL gene, one carried MLL-AF4 fusion gene, and one lost two chromosomes.			
20633769	KMT2A	Mutation	Acute Lymphoblastic Leukemia	This report expands the spectrum of ALL-related translocations and hypothesizes on the mechanism leading to the MLL-SEPT11 fusion.				SEPT11	Fusion	This report expands the spectrum of ALL-related translocations and hypothesizes on the mechanism leading to the MLL-SEPT11 fusion.			
20620601	KMT2A	Copy Number Gain	Acute Megakaryoblastic Leukemia	Here we describe the case of an infant with neurofibromatosis developing AMKL with a complex karyotype including 5q and 17q deletions, TP53 deletion, and an unusual unbalanced chromosomal translocation t(11;19)(q13;p13), leading to three copies of the MLL gene.									
20603585	KMT2A	Mutation	Therapy related acute Leukemia	We report a case of therapy-related ALL (t-ALL) with MLL gene rearrangement in a patient who had undergone treatment for breast cancer.									
20519822	KMT2A	Mutation	Therapy-Related Myelodysplastic/Myeloproliferative Neoplasm	These findings indicated a diagnosis of therapy-related myelodysplastic/myeloproliferative neoplasms (t-MDS/MPN). Fluorescence in situ hybridization revealed that the breakpoint at 11q23 was centromeric to the MLL gene.									
20350423	KMT2A	Mutation	Acute Myeloid Leukemia	Eighteen children were positive for TEL/AML1, 14 for E2A/PBX1, 11 for BCR/ABL,and 2 cases for MLL/AF4, and 35 cases were negative for all of the 4 fusion genes.				AF4	Fusion	Eighteen children were positive for TEL/AML1, 14 for E2A/PBX1, 11 for BCR/ABL,and 2 cases for MLL/AF4, and 35 cases were negative for all of the 4 fusion genes.			
20303016	KMT2A	Mutation; Copy Number Gain	Acute Monoblastic Leukemia	We report a case of acute monoblastic leukemia showing a jumping translocation with the MLL gene in a 17-year-old male. Classic cytogenetic and spectral karyotyping revealed a complex karyotype, and fluorescence in situ hybridization (FISH) demonstrated amplification of the MLL gene followed by translocation to chromosomes 15q, 17q, and 19q.									
20299091	KMT2A	Mutation	Mixed Phenotype Acute Leukemia	To the best of our knowledge, this is the first reported MLL-MLLT10 rearranged case presenting as MPAL in an infant.				MLLT10	Fusion	To the best of our knowledge, this is the first reported MLL-MLLT10 rearranged case presenting as MPAL in an infant.			
20139053	KMT2A	Mutation	Acute Lymphoblastic Leukemia	Although mixed lineage leukemia gene (MLL) rearrangement is the dominant genetic aberration in infantile acute leukemia, the occurrence of MLL gene rearrangement in maternal ALL occurring during pregnancy has not been reported. Three of the 5 patients had MLL gene rearrangement.									
20107154	KMT2A	Mutation	Acute Lymphoblastic Leukemia	The clinical outcome of 21 adults with ALL1(MLL)/AF4 positive acute lymphoblastic leukemia enrolled in the GIMEMA LAL 2000 trial and of 25 patients entered into the previous 0496 study is reported.				AF4	Fusion	The clinical outcome of 21 adults with ALL1(MLL)/AF4 positive acute lymphoblastic leukemia enrolled in the GIMEMA LAL 2000 trial and of 25 patients entered into the previous 0496 study is reported.			
20051780	KMT2A	Mutation	Acute Lymphoblastic Leukemia	Three of the 4 infant ALL samples showed complete rearrangements of the VDJH gene with productive joints. Bisulfite sequencing of CD10 type 1 and 2 promoters showed that more than 84% of the cytosine-phosphate-guanine (CpG) dinucleotides identified were methylated in all 3 CD10-negative infant ALL samples with MLL/AF4.				AF4	Fusion	Three of the 4 infant ALL samples showed complete rearrangements of the VDJH gene with productive joints. Bisulfite sequencing of CD10 type 1 and 2 promoters showed that more than 84% of the cytosine-phosphate-guanine (CpG) dinucleotides identified were methylated in all 3 CD10-negative infant ALL samples with MLL/AF4.			
20032505	KMT2A	Mutation	Acute Lymphoblastic Leukemia	Here we generated and analyzed primary infant ALL expression profiles (n = 73) typified by translocations t(4;11), t(11;19), and t(9;11), or the absence of MLL translocations.									
27748572	SIRT1	Overexpression	Hepatocellular Carcinoma	SIRT1 was overexpressed in human HCC tissues and was negatively related to miR-204-5p levels.	miR-204-5p	Negative regulation	SIRT1 was a potential oncogene in cancer, which was identified as a direct target of miR-204-5p. SIRT1 was overexpressed in human HCC tissues and was negatively related to miR-204-5p levels.						
27720890	SIRT1	Overexpression	Squamous Cell Carcinoma	All 24 cases of invasive and microinvasive SCC showed SIRT1 over-expression with 25% (6/24) showing cytoplasmic staining only, 4.2% (1/24) showing nuclear staining only, and 70.8% (17/24) showing both nuclear and cytoplasmic staining.									
27312708	SIRT1	Overexpression	Hepatocellular Carcinoma	Our data show that SIRT1 is highly expressed in liver CSCs and decreases during differentiation. In addition, high levels of SIRT1 predict a decreased probability of survival in patients with HCC.	Insulin growth factor	positive regulation	Furthermore, we demonstrated that insulin growth factor signaling plays an important role in maintaining SIRT1 expression through increased SIRT1 protein stability.				SOX2	Regulation	Mechanistically, SIRT1 regulates transcription of the SOX2 gene by way of chromatin-based epigenetic changes, which are dependent on DNA methylation
27277416	SIRT1	Overexpression	Breast Carcinoma; Triple-Negative Breast Carcinoma	Immunohistochemical expressions of FOXM1, FOXO3a, SIRT1 and SIRT6 were evaluated in tissue microarray blocks containing 688 consecutive breast cancer samples.				FOXM1	Positive correlation	High expression of FOXM1 was significantly correlated with high SIRT1 and SIRT6 expression, higher histologic grade and triple-negative breast cancer (TNBC).			
27145368	SIRT1	Overexpression	Colorectal Carcinoma	Moreover, Kaplan-Meier curves showed that CRC patients with high expression level of miR-199b had a longer median survival. Functional assays results indicated that the restoration of miR-199b considerably reduced cell invasion and migration in vitro and in vivo, and increased the sensitivity to 5-FU and oxaliplatin. Further dual-luciferase reporter gene assays revealed that SIRT1 was the direct target of miR-199b in CRC. The expression of miR-199b was inversely correlated with SIRT1 in CRC specimens.				miR-199b	Negative correlation	In the present study, by comparing the miRNA expression profiles of CRC tissues and corresponding hepatic metastasis tissues, we established the downregulation of miR-199b in CRC metastasis tissues. The decrease in miR-199b expression was significantly correlated to late TNM stage and distant metastasis. Moreover, Kaplan-Meier curves showed that CRC patients with high expression level of miR-199b had a longer median survival. Functional assays results indicated that the restoration of miR-199b considerably reduced cell invasion and migration in vitro and in vivo, and increased the sensitivity to 5-FU and oxaliplatin. Further dual-luciferase reporter gene assays revealed that SIRT1 was the direct target of miR-199b in CRC. The expression of miR-199b was inversely correlated with SIRT1 in CRC specimens.			
27080717	SIRT1	Underexpression	Breast Carcinoma	Particularly, expressions of SIRT1 and SIRT4 were found to be significantly down-regulated in breast cancer tissues and SKBR3 breast cancer cells.									
27072976	SIRT1	Overexpression	Gastric Carcinoma	A total of 1650 patients in 7 studies were included according to the inclusion criteria and exclusion criteria. The high expression of Sirt1 was found in 58.4% cases by immunohistochemistry.									
26999517	SIRT1	Overexpression; SNP	Breast Carcinoma	Breast cancer patients exhibited elevated serum SIRT1 levels which varied among different tumor grades. SIRT1 rs3758391 and rs12778366 TT genotypes were more frequent, exhibited higher SIRT1 levels than CC and CT genotypes and were associated with histologic grade and lymph node status.									
26902145	SIRT1	Underexpression	Breast Carcinoma	Importantly, this mechanism is manifested in breast cancer patient samples and TCGA database, which showed that low SIRT1 gene expression in tumor tissues compared with normal adjacent tissues predicts poor prognosis in patients with breast cancer.	BRCA1	Positive regulation	We reveal that overexpression of BRCA1 significantly inhibited expression of AR through activation of SIRT1 in breast cancer cells.				AR	Positive regulation	We reveal that overexpression of BRCA1 significantly inhibited expression of AR through activation of SIRT1 in breast cancer cells.
26862948	SIRT1	Overexpression	Endometrial Adenocarcinoma; Mucinous Adenocarcinoma; Clear Cell Adenocarcinoma	The expression of SIRT1 was higher in endometrioid, mucinous, and clear-cell carcinomas than in the inclusion cysts of normal ovaries, but not in serous carcinoma (P=0.038).									
26824501	SIRT1	Overexpression	Hepatocellular Carcinoma	SIRT1 levels were elevated in human HCC compared to adjacent normal liver tissue, and its expression correlated positively with p-p38 levels.							p38; MKK3; YAP	Positive regulation	SIRT1 levels were elevated in human HCC compared to adjacent normal liver tissue, and its expression correlated positively with p-p38 levels. Additionally, SIRT1-activated p38 increased liver cancer malignancy. SIRT1 increased phosphorylation and nuclear accumulation of p38, possibly by increasing MKK3 expression. SIRT1 also induced YAP expression, which in turn increased MKK3 transcription.
26794150	SIRT1	Overexpression	Chronic Lymphocytic Leukemia	We showed that both primary CLL cells and JVM-3 and MEC-2 cell lines overexpress high levels of functional SIRT1 and SIRT2.									
26763348	SIRT1	Overexpression	Colorectal Carcinoma	Simultaneously, SIRT1 overexpression predicted a poor OS in CRC patients, and SIRT1 is a candidate negative prognostic biomarker for CRC patients.									
26701732	SIRT1	Underexpression	Endometrial Carcinoma	Compared to NNE, ECs showed SIRT7 (p < 0.001) mRNA overexpression, whereas SIRT1 (p < 0.001), SIRT2 (p < 0.001), SIRT4 (p < 0.001) and SIRT5 (p < 0.001) were underexpressed.									
26662958	SIRT1	Overexpression	Esophageal Squamous Cell Carcinoma	Basal expression levels of SIRT1 protein in ESCC tumor tissues and cell lines were higher than those in the control groups.									
26655844	SIRT1	Overexpression	Pancreatic Carcinoma	We show that SIRT1 is highly expressed in pancreatic cancer cells and that the STACs SRT1720, SRT1460, and SRT3025 inhibited cell growth and survival of pancreatic cancer cells.									
26363315	SIRT1	Overexpression	Colorectal Carcinoma	Clinical analysis revealed a significant association between high SIRT1 expression and poor outcome in CRC patients.									
26318035	SIRT1	Overexpression	Lung Carcinoma	SIRT1 was overexpressed in the lung of B[a]P-exposed mice and in human lung cancer biopsies.							TNF-α; β-catenin; E-cadherin	Positive regulation; positive regulation; negative regulation	SIRT1 up-regulated TNF-α and β-catenin and down-regulated the membrane fraction of E-cadherin.
26091232	SIRT1	Overexpression	Adult T-Cell Leukemia/Lymphoma	We previously reported that ATL patients had significantly higher SIRT1 protein levels than healthy controls.									
25995644	SIRT1	Overexpression	Lung Adenocarcinoma	A high expression level of SIRT1 was observed in 74.7% (56/75) of patients with lung adenocarcinoma and 6.7% (5/75) of NCTs (P<0.001).				VEGF	Positive correlation	Moreover, the SIRT1 and VEGF expression statuses were significantly positively correlated (r=0.238, P=0.039), while SIRT1 and Survivin expression status were not significantly correlated (r=0.220, P=0.058).			
25915617	SIRT1	Overexpression	non-Small Cell Lung Carcinoma	High SIRT1 and SIRT2 protein levels were found in NSCLC cell lines compared with non-tumor lung epithelial cells.									
25884180	SIRT1	Overexpression	Acute Lymphoblastic Leukemia	In the present study, we initially found that the level of SIRT1, a class III histone deacetylase, was higher in primary ALL cells from patients than in peripheral blood mononuclear cells from healthy individuals.									
25785061	SIRT1	Overexpression	Colorectal Carcinoma	The expressions of SIRT1 and Phospho-SIRT1 were higher in colorectal cancer tissues than normal tissues.				Phospho-SIRT1; Ki67	Positive correlation; correlation	SIRT1 and Phospho-SIRT1 were highly correlated in cancer tissues and normal tissues. Phospho-SIRT1 expression in cancer tissues was associated with Ki67.			
25785036	SIRT1	Overexpression	Breast Carcinoma	The pooled analyses showed a significant correlation between SIRT1 expression and poor disease-free survival (DFS) (HR = 3.07, 95% CI: 1.92-4.91, Z = 4.69, P < 0.001) and overall survival (OS) (HR = 3.94, 95% CI: 2.19-7.10, Z = 4.57, P < 0.001).									
25652855	SIRT1	Overexpression	Hepatocellular Carcinoma	The expression of miR-204 in HCC tissues was significantly lower than that in tumor-adjacent normal tissues. miR-204 could inhibit HCC cell proliferation and induce apoptosis by down-regulating the expressions of Bcl-2 and Sirt1.	miR-204	Negative regulation	The expression of miR-204 in HCC tissues was significantly lower than that in tumor-adjacent normal tissues. miR-204 could inhibit HCC cell proliferation and induce apoptosis by down-regulating the expressions of Bcl-2 and Sirt1.						
25522783	SIRT1	Overexpression	Hepatocellular Carcinoma	SIRT1 expression was significantly overexpressed in the tumor tissues and HCC cell lines.									
25503141	SIRT1	Underexpression	Head and Neck Squamous Cell Carcinoma	The expression profiles of the 7 SIRT genes of PB leukocytes from 34 patients with HNSCC before and after surgery and 31 healthy individuals were investigated. In the cancer group, the expression level of SIRT1 was down-regulated (p<0.05); in contrast, SIRT6 and SIRT7 were significantly up-regulated (p<0.001).									
25503141	SIRT1	Overexpression	Colorectal Carcinoma	We found that many CRC specimens had strong SIRT1 expression, which had an obvious correlation with poor prognosis of CRC patients.							Oct4; Nanog; Cripto; Tert; Lin28	Positive regulation	Further study demonstrated that the expressions of several stemness-associated genes, including Oct4, Nanog, Cripto, Tert and Lin28, were reduced by SIRT1 knockdown in CRC cells.
25424420	SIRT1	Underexpression	Oral Squamous Cell Carcinoma	We found that compared with normal human oral keratinocytes (HOKs), SIRT1 was underexpressed in OSCC cells, and also in oral cancer tissues obtained from 14 of 21 OSCC patients compared with expression in their matched normal tissues.							E-cadherin; Smad4; TGF-β-induced signaling	Positive regulation; regulation; negative regulation	Furthermore, up-regulation of SIRT1 in metastatic OSCCs significantly inhibited the migration and invasion abilities of OSCC cells, while concomitantly increasing the expression of E-cadherin, and decreasing the expressions of mesenchymal markers. Overexpression of SIRT1 in OSCC cells led to decreased levels of acetylated Smad4, and inhibition of TGF-β-induced signaling.
25420528	SIRT1	Overexpression	Breast Carcinoma	SIRT1, N1IC, and Snail were all found to be highly expressed and an inverse correlation between SIRT1 and N1IC in breast cancer tissue.				N1IC	Negative correlation	SIRT1, N1IC, and Snail were all found to be highly expressed and an inverse correlation between SIRT1 and N1IC in breast cancer tissue.			
25341037	SIRT1	Overexpression	Synovial Sarcoma	We show that SIRT1 is overexpressed in synovial sarcoma biopsies and cell lines in comparison with normal mesenchymal cells.							LC3II	Positive regulation	Using siRNA to knock down SIRT1 and SIRT2, we show that the expression of both proteins is crucial for the survival of rhabdomyosarcoma cells and that the loss of SIRT1 expression results in a decreased LC3II expression.
25281719	SIRT1	Overexpression	Ewing Sarcoma	Using immunohistochemistry to analyze primary tissue specimens, we found that high SIRT1 expression was associated with Ewing sarcoma metastasis and poor prognosis.	NOTCH	Negative regulation	Restoration of NOTCH signaling caused growth arrest due to activation of the NOTCH effector HEY1, directly suppressing SIRT1 and thereby activating p53.				p53	Negative regulation	Restoration of NOTCH signaling caused growth arrest due to activation of the NOTCH effector HEY1, directly suppressing SIRT1 and thereby activating p53.
25270091	SIRT1	Overexpression	Endometrial Carcinoma	Expression levels of SIRT1 in EC were found to be significantly higher than in normal endometrium.							SREBP1	Positive regulation	Knockdown of SIRT1 could downregulate expression of SREBP1 and suppress cell proliferation.
25172416	SIRT1	Overexpression	Pancreatic Carcinoma	Consistently, miR-217 was obviously down-regulated in CP, PC and TGF-β1 treated PC cells, while negatively correlated to its direct target SIRT1. Moreover, either ectopic expression of miR-217 or inhibition of SIRT1 remarkably induced mesenchymal to epithelial transition (MET) in TGF-β1 treated PC cells.	miR-217	Negative regulation	Consistently, miR-217 was obviously down-regulated in CP, PC and TGF-β1 treated PC cells, while negatively correlated to its direct target SIRT1. Moreover, either ectopic expression of miR-217 or inhibition of SIRT1 remarkably induced mesenchymal to epithelial transition (MET) in TGF-β1 treated PC cells.						
25146318	SIRT1	Overexpression	Gastric Carcinoma	We found that SIRT1 high expression closely correlates with progression and prognosis in gastric cancer patients.									
25139823	SIRT1	Overexpression	Breast Carcinoma	Immunohistochemical staining for LSD1, HDAC2 and SIRT1 was performed on tissue microarrays of tumor and corresponding normal formalin-fixed paraffin-embedded tissues from breast cancer patients. Expression of LSD1 and SIRT1, but not of HDAC2, was significantly increased in tumor tissues compared to their normal counterparts (both p < 0.001).									
24959282	SIRT1	Overexpression	Lung Adenocarcinoma	Immunohistochemical staining was performed to investigate Sirt1 expression in cancer cells in 125 consecutive resected cases of primary lung adenocarcinoma. Sirt1 expression was found to be increased in 26 (20.8%) of the 125 cases, which correlated significantly with five clinicopathological factors: Ki67 index, hypoxia-inducible factor 1 (HIF1) molecule expression, tumor-node-metastasis (TNM) classification, pulmonary vein invasion and lymphatic duct invasion.				HIF1	Correlation	Immunohistochemical staining was performed to investigate Sirt1 expression in cancer cells in 125 consecutive resected cases of primary lung adenocarcinoma. Sirt1 expression was found to be increased in 26 (20.8%) of the 125 cases, which correlated significantly with five clinicopathological factors: Ki67 index, hypoxia-inducible factor 1 (HIF1) molecule expression, tumor-node-metastasis (TNM) classification, pulmonary vein invasion and lymphatic duct invasion.			
24927438	SIRT1	Overexpression	Acute Myeloid Leukemia	SIRT1 is overexpressed in some of pediatric AML patients, and the overexpression of SIRT1 is associated with poor prognosis.									
24855208	SIRT1	Overexpression	Acute Myeloid Leukemia	We show that SIRT1 protein, but not RNA levels, is overexpressed in AML samples harboring activating mutations in signaling pathways.									
24816737	SIRT1	Overexpression	Colorectal Adenocarcinoma	There was significant difference in SIRT1 overexpression between adenocarcinomas and normal mucosal tissues (P < 0.01, χ(2) test).									
24751483	SIRT1	Overexpression	Melanoma	We have found that SIRT1 is overexpressed in clinical human melanoma tissues and human melanoma cell lines (Sk-Mel-2, WM35, G361, A375, and Hs294T) compared to normal skin and normal melanocytes, respectively.							p53	Regulation	SIRT1 appears to be acting through the activity of the tumor suppressor p53, which is not mutated in the majority of melanomas.
24343700	SIRT1	Overexpression	Cutaneous T-Cell Non-Hodgkin Lymphoma	Our results indicate that SIRT1 is strongly expressed in CTCL.									
24338587	SIRT1	Overexpression	Hepatocellular Carcinoma	Finally, we found that human hepatocellular carcinoma (HCC) samples have increased presence of SIRT1, which correlated with the absence of FXR, suggesting its oncogenic potential.							FXR; mTOR; BA	Positive regulation; regulation; regulation	Finally, we found that human hepatocellular carcinoma (HCC) samples have increased presence of SIRT1, which correlated with the absence of FXR, suggesting its oncogenic potential. We define SIRT1 as a key regulator of the regenerative response in the liver through posttranscriptional modifications that regulate the activity of FXR, histones, and mTOR. Moreover, our data suggest that SIRT1 contributes to liver tumorigenesis through dysregulation of BA homeostasis by persistent FXR deacetylation.
24228097	SIRT1	Overexpression	non-Small Cell Lung Carcinoma	Furthermore, SIRT1 is found to be highly expressed in brain metastasis tissues of NSCLC, compared to the NSCLC tissues, suggesting that SIRT1 may play roles in brain metastasis of NSCL									
24223900	SIRT1	Overexpression	Non-Small Cell Lung Carcinoma	This study was to explore the association between the SIRT1 expression and the clinical characteristics, the responsiveness to chemotherapy and prognosis in Non-small cell lung cancer (NSCLC). We found that the SIRT1 expressions were significantly associated with the tumor stage, tumor size and differentiation status. Patients with high expression of SIRT1 had significantly shorter OS and DFS than those with low expression.									
24127549	SIRT1	Underexpression	Prostate Carcinoma	We found that H2AFZ and SIRT1 were up- and downregulated, respectively, at transcript level in primary prostate cancer and high-grade prostatic intraepithelial neoplasia compared to normal prostatic tissues.							H2A.Z	Negative regulation 	Induced SIRT1 overexpression in prostate cancer cell lines resulted in almost complete absence of H2A.Z.
24107295	SIRT1	Underexpression	Gastric Carcinoma	SIRT1 was present in all normal gastric mucosa specimens; however, it was only present in a portion of the matched gastric cancer tumor specimens. In SIRT1-positive tumors, both mRNA and protein levels were downregulated as compared with the corresponding nonneoplastic tissue.							Cyclin D1	Negative regulation 	At the molecular level, SIRT1 inhibited the transcription of Cyclin D1 (CCND1), and inhibition of NF-κB in SIRT1-depleted cells rescued Cyclin D1 expression.
24035280	SIRT1	Overexpression	Gastroesophageal Junction Cancer	Tissue microarray technique and immunohistochemical stains were applied to evaluate the SIRT1, p300/CBP, E-cadherin, and MLH1 expression in 176 GEJ cancer tissues and 32 normal GEJ region tissues. The results showed that the over-expression of SIRT1 was associated with a higher number of metastasis lymph nodes, more advanced staging, and shorter mean survival time.				E-cadherin	Negative correlation	SIRT1 and p300/CBP were negatively and positively correlated with the expression of E-cadherin and MLH1, respectively, in the cancer cases.			
24009628	SIRT1	Overexpression	Colorectal Carcinoma	Immunohistochemical expressions of SIRT1, DBC1, β-catenin, surviving, and p53 were evaluated using 2 mm tumor cores from 349 colorectal cancer patients for tissue microarray. Overexpression of SIRT1, DBC1, survivin, and p53 was seen in 235 (67%), 183 (52%), 193 (55%), and 190 (54%) patients, respectively.				DBC1; β-catenin; survivin 	Association	Expression of SIRT1 was significantly related to DBC1 (p=0.001), β-catenin (p=0.001), and survivin (p=0.002), but not with p53.			
23843607	SIRT1	Underexpression	Ovarian Carcinoma	Importantly, analysis of human ovarian tumor specimens indicated that PIASy expression was positively, whereas SIRT1 expression was inversely, correlated with cancer aggressiveness. In summary, our work has identified a new pathway that links downregulation of SIRT1 to hypoxia-induced EMT in ovarian cancer cells and, as such, sheds light on the development of novel anti-tumor therapeutics.									
23768087	SIRT1	Overexpression	Gastric Carcinoma	We verified that miR-204 levels were down-regulated and significantly associated with the up-regulation of SIRT1 mRNA levels in gastric cancer specimens.	miR-204	Negative regulation	SIRT1 was defined as the target gene and elucidated the biological functions of miR-204 with a luciferase reporter assay and Western blot analysis. We verified that miR-204 levels were down-regulated and significantly associated with the up-regulation of SIRT1 mRNA levels in gastric cancer specimens.	LKB1	Collaboration	Our results suggest that down-regulation of miR-204 promotes gastric cancer cell invasion by activating the SIRT1-LKB1 pathway.			
23728341	SIRT1	Overexpression	Hepatocellular Carcinoma	Aberrant SIRT1 overexpression was demonstrated in a subset of human HCCs.	miR-29c	Negative regulation	Taken together, we demonstrated that miR-29c suppresses oncogenic SIRT1 by way of binding to 3'-untranslated region of SIRT1 mRNA causing translational inhibition in liver cancer cells						
23542177	SIRT1	Overexpression	Hepatocellular Carcinoma	In our experiments, we observed that the expression of SIRT1 is significantly upregulated in the tumor samples of the hepatocarcinoma patients, and SIRT1 mRNA level positively correlates with connective tissue growth factor (CTGF) mRNA level.				CTGF	Positive correlation	In our experiments, we observed that the expression of SIRT1 is significantly upregulated in the tumor samples of the hepatocarcinoma patients, and SIRT1 mRNA level positively correlates with connective tissue growth factor (CTGF) mRNA level.	YAP2/TEAD4	Positive regulation	We then found that SIRT1 deacetylates YAP2 protein in HCC cells and SIRT1-mediated deacetylation increases the YAP2/TEAD4 association, leading to YAP2/TEAD4 transcriptional activation and upregulated cell growth in HCC cells.
23475622	SIRT1	Underexpression	Head and Neck Squamous Cell Carcinoma	Our results demonstrated that the expression levels of SIRT1, SIRT2, SIRT3, SIRT5, SIRT6, and SIRT7 were significantly downregulated in cancerous tissues compared with noncancerous tissues (all p<0.01).									
23453030	SIRT1	Underexpression	Head and Neck Squamous Cell Carcinoma	SIRT1 expression was assessed by immunohistochemistry (IHC) conducted using samples from 437 consecutive HNSCC patients. IHC revealed 79.6% staining of SIRT1 in HNSCC, while almost all normal tissues showed positive staining.									
23354305	SIRT1	Mutation	Squamous Cell Carcinoma	A global association between genetic variation in the haplotype block where SIRT1 resides and the risk for SCC in miners (P = 0.003) was identified.									
23340254	SIRT1	Overexpression	Invasive Ductal Carcinoma	Finally, we demonstrate by immunohistochemistry that SIRT1 is significantly up-regulated in invasive ductal carcinoma relative to normal tissue adjacent to tumor, further suggesting a role of SIRT1 in breast cancer.							PI.3/PII; PI.4; estrogen-related receptorα	Regulation	Additionally, by chromatin immunoprecipitation, we demonstrate that SIRT1 occupies the promoter regions PI.3/PII and PI.4, and its inhibition leads to increased acetylation of estrogen-related receptorα, a transcription factor that positively regulates CYP19A1 transcription in epithelial cells.
23339189	SIRT1	Overexpression	Hepatocellular Carcinoma	Our data show that compared with normal liver or surrounding tumor tissue, SIRT1 is strongly overexpressed in human hepatocellular carcinoma (HCC).									
23248098	SIRT1	Overexpression	Prostate Carcinoma	Androgen-independent prostate cancer cell lines (C42B, PC3, and DU145) express higher levels of SIRT1 than androgen-responsive (LNCaP) and nontumorigenic prostate cells (RWPE-1).									
23038275	SIRT1	Overexpression	Prostate Carcinoma	Furthermore, we determined that SIRT1 inhibition reduced prostate cancer cell invasion and SIRT1 is highly expressed in advanced prostate cancer tissues.							MMP2	Regulation	We show that SIRT1 associates and deacetylates MMP2 and SIRT1 regulates MMP2 expression by controlling MMP2 protein stability through the proteosomal pathway.
22986747	SIRT1	Overexpression	Non-Small Cell Lung Carcinoma	Using these profiles and four independent gene expression datasets, we found that SIRT1 activity is significantly upregulated in cytologically normal bronchial airway epithelial cells from active smokers compared with nonsmokers. In contrast, this activity is strikingly downregulated in non-small cell lung cancer.									
22986535	SIRT1	Overexpression	Thyroid Gland Carcinoma	Similarly, SIRT1 is overexpressed in human thyroid cancers and it is positively correlated with c-MYC protein levels.							c-MYC	Positive regulation	Based on mRNA expression analyses of pre-tumoral murine thyroids, we find that SIRT1 increases c-MYC transcriptional programs. Similarly, SIRT1 is overexpressed in human thyroid cancers and it is positively correlated with c-MYC protein levels. Finally, we show in cultured thyroid cancer cells that SIRT1 stabilizes c-MYC protein.
22554968	SIRT1	Underexpression	Colorectal Adenoma;Colorectal Adenocarcinoma; Colorectal Carcinoma	SIRT1 protein expression, determined by immunohistochemistry, was investigated in human normal colonic mucosa, adenoma, adenocarcinoma and metastatic tissue samples. All normal colonic mucosa showed SIRT1 expression with no exception, and 42 (80.8%) of 52 adenomatous polyps were positive for SIRT1. However, only 208 (41.9%) of 497 colorectal adenocarcinomas were positive. Moreover, 45 (35.7%) of 126 metastatic tissues were positive. Collectively, the SIRT1 expression was gradually decreased during carcinogenesis and tumour progression.									
22340598	SIRT1	Overexpression	Chronic Myelogenous Leukemia	We show that the NAD(+)-dependent deacetylase SIRT1 is overexpressed in human CML LSC.							p53	Negative regulation	Activation of p53 via SIRT1 inhibition represents a potential approach to target CML LSC.
22322739	SIRT1	Overexpression	Adult T-Cell Leukemia/Lymphoma	SIRT1 expression in ATL patients was significantly higher than that in healthy controls, especially in the acute type.									
22149272	SIRT1	Underexpression	Colorectal Carcinoma	In CRC, SIRT1 mean expression level was decreased.							PER1; CaCo2	Positive regulation; negative regulation	SIRT1 overexpression induced PER1 upregulation in CaCo2 and downregulation in SW480 cells.
22146883	SIRT1	Overexpression	Hepatocellular Carcinoma	SIRT1 was overexpressed in 95 of 172 HCCs (55%).				α-fetoprotein; β-catenin	Positive correlation; association	SIRT1 overexpression was associated with higher α-fetoprotein level, higher tumor grade, and absence of β-catenin mutation.			
21865267	SIRT1	Overexpression	Gastric Carcinoma	SIRT1 expression in gastric cardiac carcinoma was significantly higher than that in normal gastric cardiac tissues and was associated with lymphatic metastasis, TNM stage, survival rate and mean survival time.									
21677689	SIRT1	Overexpression	Pancreatic Carcinoma	SIRT1 was overexpressed in pancreatic cancer tissues at both the mRNA and protein levels, with increased SIRT1 positivity associated with tumors from patients over 60 years old, tumors larger than 4 cm, higher TNM (extent of tumor (T), the extent of spread to lymph nodes (N), and presence of distant metastasis (M)) stage or the presence of lymph node or hepatic metastases.									
21596753	SIRT1	Overexpression	Breast Carcinoma	Finally, we observed SIRT1 overexpression in association with decreased miR-200a in breast cancer patient samples.	miR-200	Positive regulation	These observations provide further evidence for a critical tumor suppressive role of the miR-200 family in breast epithelium in addition to identifying a novel regulatory mechanism, which may contribute to SIRT1 up-regulation in breast cancer.						
21567102	SIRT1	Overexpression	Hepatocellular Carcinoma	Overexpression of SIRT1 and p53 was observed in 56% (50 of 90) and in 30% (27 of 90) of the HCCs, respectively.				p53	Correlation	Expression of SIRT1 showed significant correlation with gender (p=0.023), serum AFP levels (p=0.030), viral infection (p=0.005) and p53 expression (p<0.021).			
21555002	SIRT1	Overexpression	Chronic Myeloid Leukemia	SIRT1 was also found to be up regulated in cell lines and in chronic myeloid leukemia patient samples where EVI1 was detected.							EVI1	Regulation	Our results thus identify an EVI1-SIRT1 axis in the regulation of EVI1 activity suggesting a possible role of SIRT1 in EVI1 positive neoplasms.
21527554	SIRT1	Overexpression	Hepatocellular Carcinoma	We showed that although SIRT1 was expressed at very low levels in normal livers, it was overexpressed in HCC cell lines and in a subset of HCC.							TERT; PTOP	Positive regulation	SIRT1 silencing also caused telomere dysfunction-induced foci and nuclear abnormality that were clearly associated with reduced expressions of telomerase reverse transcriptase (TERT), and PTOP, which is a member of the shelter in complex.
21149730	SIRT1	Underexpression	Skin Neoplasm	Finally, we show that SIRT1 levels are significantly reduced in human skin tumors from Caucasian patients, a population at highest risk.									
20956937	SIRT1	Overexpression	Prostate Carcinoma	In this study, we show that NAMPT is prominently overexpressed in human prostate cancer cells along with SIRT1.	NAMPT	Positive regulation	In this study, we show that NAMPT is prominently overexpressed in human prostate cancer cells along with SIRT1. We demonstrate that in addition to modulating SIRT1 functions, the NAMPT inhibition reduces forkhead box, class 'O' (FOXO)3a protein expression and its downstream anti-oxidant genes catalase and manganese superoxide dismutase.						
20412117	SIRT1	Overexpression	Breast Carcinoma	The aim of the present study was to simultaneously evaluate the expression levels of SIRT1 and DBC1 in the normal and tumor breast tissues from 28 breast cancer patients and to determine correlations with clinicopathological variables. SIRT1 and DBC1 expression was higher in tumor tissues than in matched normal tissues at the protein level, but not at the transcriptional level.	DBC1	Negative regulation	This suggests that the negative regulation of SIRT1 by DBC1 may retard tumorigenesis in breast tissue.						
28712119	ACTA1	Overexpression	Colorectal Carcinoma; Lung Carcinoma	Patients with high ActA (�?08pg/mL) had lower OS than those with low levels, regardless the type of cancer (OS in colorectal cancer, 50% vs. 79%, P<0.05; and in lung cancer, 27% vs. 67%, P=0.001).									
28533055	ACTA1	Overexpression	Breast Carcinoma	A total of 127 breast samples, including 96 malignant and 31 benign, were examined for ASMA, HMGB1, and RAGE by immunohistochemistry. ASMA+ fibroblast infiltration was significantly increased in the tumor stroma compared with that in benign breast tissue. The levels of cytoplasmic HMGB1 and RAGE were significantly greater in the breast cancer tissue than in the benign breast tissues. High ASMA expression correlated significantly with large tumor size, clinical stage III-IV, and angiolymphatic and perinodal invasion. 									
28498803	ACTB	altered expression 	Glioma; Glioblastoma	A small scale validation study confirmed significant changes in mRNA expression levels of VIM, DPYSL2, ACTB and TRIM28. This work helps to fill the information gap in this field by defining novel differences in biochemical profiles between gliomas and reference samples. Thus, selected genes can be used to distinguish glioblastoma from lower grade gliomas, and from reference samples.									
28260090	ACTL6A	Overexpression	Osteosarcoma	In this study, the results showed that, by analysis of frozen fresh primary tumor tissues, matched non-cancerous bone tissues(NCBTs) and biopsy lung metastatic nodule tissues from 30osteosarcoma patients after radical surgical resection, ACTL6A was overexpressed in osteosarcoma tissues compared with matched NCBTs, and its expression level was associated with osteosarcoma metastasis.									
28041841	ACTL6A	Overexpression (copy number gain)	Head and Neck Squamous Cell Carcinoma	Here, we reveal that ACTL6A, encoding an SWI/SNF subunit linked to stem cell and progenitor cell function, is frequently co-amplified and highly expressed together with the p53 family member p63 in head and neck squamous cell carcinoma (HNSCC).				p63	Collaboration	ACTL6A and p63 physically interact, cooperatively controlling a transcriptional program that promotes proliferation and suppresses differentiation, in part through activation of the Hippo-YAP pathway via regulators including WWC1.			
27753538	AIRE	altered expression 	Breast Carcinoma	Both in the RNA-seq and gene expression datasets analyzed, AIRE expression was an independent strong prognostic factor for relapse-free survival (RFS), particularly in estrogen receptor-positive tumors. Enrichment of translation-related pathways was observed in AIRE-expressing tumors by Ingenuity Pathway Analysis and a significant increase of cells in G1 phase and activation of caspase cascades was induced by AIRE transfection in breast cancer luminal cell lines, suggesting that AIRE-induced over-translation of proteins lead to cycle arrest and apoptosis. These data are the first to identify AIRE expression in breast cancer and an association with prognosis.									
27903678	ADNP	Overexpression	Colon Carcinoma	ADNP was overexpressed in colon cancer cells with high WNT activity, where it acted as a WNT repressor.							WNT	Negative regulation	ADNP was overexpressed in colon cancer cells with high WNT activity, where it acted as a WNT repressor.
28693209	AID	altered expression	Hypopharyngeal Squamous Cell Carcinoma; Double Esophageal Squamous Cell Carcinoma	The rate of aberrant AID and E-cadherin expression was 67 and 44% in HPSCCs and 44 and 44% in DESCC, respectively.									
28247997	AID	Mutation	Follicular Lymphoma	Here we evaluated the prognostic value of BCL2 mutations in a large prospective cohort of 252 patients with FL treated with immunochemotherapy in the PRIMA randomized trial. Using a DNA-targeted sequencing approach, we detected amino acid altering mutations in 135 patients (54%) and showed that these mutations were probably mediated by the over-activation of AICDA (activation-induced cytidine deaminase) in the context of the t(14;18) translocation.									
28569781	AKAP1	Overexpression	Glioblastoma; Lung Carcinoma	 High levels of AKAP1 were found in a wide variety of high-grade cancer tissues. In lung cancer, AKAP1 expression correlates with high levels of Myc, mTOR phosphorylation and reduced patient survival.				Myc; mTOR phosphorylation	Positive correlation	In lung cancer, AKAP1 expression correlates with high levels of Myc, mTOR phosphorylation and reduced patient survival.			
28679371	ALKBH3	Underexpression (hypermethylation)	Breast Carcinoma	We developed a quantitative alkylation DNA damage assay based on immunofluorescence and confocal imaging revealing higher levels of alkylation damage in association with epigenetic inactivation of the ALKBH3 gene (P=0.029). In our cohort of 265 primary breast cancer, we found 72 cases showing aberrantly high CpG promoter methylation over the ALKBH3 promoter (27%; 72 out of 265). We further show that increasingly higher degree of ALKBH3 promoter methylation is associated with reduced breast-cancer specific survival times in patients.									
28611940	ARID1A	Mutation	Ovarian Clear Cell Carcinoma	Genes involved in chromatin remodeling, including ARID1A, SPOP, and KMT2D were frequently mutated across OCCC tumors.									
28543794	ARID1A	Loss of Expression	Invasive Micropapillary Breast Carcinoma	The loss of ARID1A expression and Her-2 positivity have significant adverse effect clinical outcomes of IMPC patients.									
28524162	ARID1A	Mutation	Colorectal Carcinoma	Next-generation sequencing analysis identified 1107 mutations in 275 genes in UCHR subjects. In addition to TP53 (17%) and KRAS (22%) mutations, recurrent mutations in APC (33%), ACVR2A (61%), ARID1A (44%), RAF1 (39%) and MTOR (61%) were observed in UCHR subjects.									
28522256	ARID1A	Mutation	Hereditary Diffuse Gastric Adenocarcinoma	We identified somatic mutations in the following genes in a significant number of early-onset DGCs: the cadherin 1 gene (CDH1), TP53, ARID1A, KRAS, PIK3CA, ERBB3, TGFBR1, FBXW7, RHOA, and MAP2K1.									
28498284	ARID1A	Loss of Expression	Endometrial Carcinoma	Loss of ARID1A expression was observed in 9 of 19 cases (47%), loss of expression of at least 1 DNA mismatch repair protein in 7 (7/21; 33%), and p53 immunoreaction was aberrant (mutated/inactivated) in 11 cases (11/21; 52%).									
28485815	ARID1A	Mutation	Endometrial Carcinomaetrial Clear Cell Adenocarcinoma	Among the 63 cases of CCEC in this study, we identified frequent somatic mutations in TP53 (39.7%), PIK3CA (23.8%), PIK3R1 (15.9%), ARID1A (15.9%), PPP2R1A (15.9%), SPOP (14.3%), and TAF1 (9.5%), as well as MSI (11.3%).									
28448305	ARID1A	Mutation	Endometrial Carcinoma; Lung Carcinoma 	CDH10, ARID1A, and EMT-associated gene mutations were identified in metastatic tumor tissue but not in primary tumors from a patient with EEC and lung metastases.									
28440661	ARID1A	Loss of Expression	Esophageal Adenocarcinoma	Loss of ARID1A expression was seen in 12 of 120 EACs (10%).									
28413430	ARID1A	genetic alteration	Non-Small Cell Lung Carcinoma	Twenty-one (95%) of the specimens were adequate for full sequencing and yielded a total of 204 genomic alterations (average 8.9 per tumor), of which 17 (average 0.81 per tumor) were actionable and/or clinically relevant. Genomic alterations were found most commonly in theTP53,EGFR,EPHB1,MLL3,APC,SETD2,KRAS,DNMT3A,RB1,CDKN2A,ARID1A,EP300,KDM6B,RAD50,STK11, andBRCA2genes.									
28413127	ARID1A	genetic alteration	Metastatic Renal Cell Cancer	ctDNA clinical results from a nationwide cohort of 220 consecutive patients with mRCC were assessed (145 men, 75 women; median age: 63 yr, interquartile range: 57-70). GAs were detected in 78.6% of patients. The most frequent GAs in the overall cohort included TP53 (35%), VHL (23%), EGFR (17%), NF1 (16%), and ARID1A (12%).									
28401006	ARID1A	Mutation; Loss of Expression; Underexpression	Ampulla of Vater Adenocarcinoma	In the ampullary adenocarcinomas, the frequency of KRAS and ARID1A mutations was 34.7% and 8.2% respectively, with a loss or reduction of ARID1A protein in 17.2% of the cases.									
28302680	ARID1A	Mutation	Hepatocellular Carcinoma	Spatial genomic diversity was found in all 11 hepatocellular carcinoma cases, with 29% of driver mutations being heterogeneous, including TERT, ARID1A, NOTCH2, and STAG2.									
28297679	ARID1A	Underexpression (hypermethylation)	Cholangiocarcinoma	 Leveraging the multi-platform data, we observed that ARID1A exhibited DNA hypermethylation and decreased expression in the IDH mutant subtype.									
28294689	ARID1A	Mutation	Waldenstrom Macroglobulinemia	Next-generation sequencing has revealed recurring somatic mutations in Waldenstrm macroglobulinemia (WM). Commonly recurring mutations include MYD88 (95% to 97%), CXCR4 (30% to 40%), ARID1A (17%), and CD79B (8% to 15%).									
28271698	ARID1A	Mutation	Ovarian Carcinoma	Additionally, genetic mutations including PTEN, PIK3CA, ARID1A, Wnt/β-catenin, microsatellite instability, Src, and KRAS have been shown to be critical in the pathogenesis of endometriosis associated ovarian cancers									
28188630	ARID1A	Mutation	Pancreatic Intraepithelial Neoplasia	Mutations in TP53, GNAS, ARID1A, PIK3CA, and TGFBR2 were limited to one or two HG-PanINs.									
28153863	ARID1A	Mutation	Metaplastic Breast Carcinoma	MBCs harbored complex genomes with frequentTP53(69%) mutations. In contrast to triple-negative IDC-NSTs, MBCs more frequently harbored mutations inPIK3CA(29%),PIK3R1(11%),ARID1A(11%),FAT1(11%), andPTEN(11%).									
28125452	ARID1A	genetic alteration	Seromucinous carcinoma	Genomic and immunohistochemical alterations were detected in a number of target genes, including KRAS (70%), PIK3CA (37%), PTEN (19%), and ARID1A (16%); no CTNNB1 mutations were identified.									
28123592	ARID1A	Underexpression	Breast Carcinoma	In this study, we first evaluated ARID1A expression by immunohistochemistry in invasive breast cancer tissue specimens and assessed the correlation with the prognosis of patients with breast cancer. Interestingly, partial loss of ARID1A expression, score 2 to 3, was significantly correlated with poor disease free survival of the patients.							RAB11FIP1	Negative regulation	Interestingly, many genes were downregulated by partial loss of ARID1A, whereas RAB11FIP1 gene expression was significantly upregulated by partial loss of ARID1A expression in breast cancer cells.
28103826	ARID1A	Mutation	Lung Carcinoma; Endometrioid Adenocarcinoma	The patient developed a metachronous lung metastasis of an endometrioid adenocarcinoma four years after hyster- and adnexectomy, vaginal brachytherapy and treatment with the synthetic steroid tibolone. Removal of the metastasis and megestrol treatment for seven years led to a complete remission. A total of 409 genes from the Ampliseq Comprehensive Cancer Panel (Ion Torrent, Thermo Fisher) were analysed by next generation sequencing and mutations in 10 genes, including ARID1A, CTNNB1, PIK3CA and PTEN were identified and confirmed by Sanger sequencing.									
28031120	ARID1A	Underexpression	Gastric Carcinoma	Both cytoplasmic and nuclear ARID1A expressions significantly decreased in gastric cancer tissues compared with adjacent noncancerous tissues.									
27939411	ARID1A	Mutation	Ovarian Clear Cell Carcinoma	Seven genes (PIK3CA, ARID1A, CTNNB1, CSMD3, LPHN3, LRP1B, and TP53) were mutated in at least two independent OCCCs.									
27925203	ARID1A	Mutation	Endometrial Carcinoma	Somatic mutations, such as ARID1A, PIK3CA, and PTEN, may promote the progression of benign endometriosis to carcinoma									
27764136	ARID1A	Loss of Expression	Clear Cell Renal Cell Carcinoma	We found that 49/160 (31%), 81/160 (51%), 23/160 (14%), 24/160 (15%), and 61/160 (38%) of ccRCC showed loss of expression of PBRM1, ARID1A, SETD2, BRG1, and BRM, respectively, and that IHC could successfully detect a high prevalence of ITH.				PBRM1	Co-expression loss	For instance, ARID1A loss almost always accompanied PBRM1 loss, whereas BRM loss accompanied loss of BRG1, PBRM1 or ARID1A.			
27756662	ARID1A	Mutation	Meningioma	Three mutations were identified in all tumor samples exhibiting a high allelic frequency: ARID1A frameshift deletion, NF2 in-frame deletion, and missense variant of SRSF2. 									
27664537	ARID1A	Mutation	Sarcoma	Although we did not identify recurrent somatic mutations (point mutations or insertions/deletions), copy number analysis showed recurrent, broad copy number alterations, including gain of chromosome 8 and loss of 1p. In one sample pair (untreated primary and local recurrence resections), we identified similar copy number profiles and a somatic ARID1A R963X nonsense mutation exclusively in the local recurrence sample.									
27634656	ARID1A	Mutation	Hepatocellular Carcinoma; Cholangiocarcinoma	ARID1A mutations correlated with alcoholic liver disease, smaller tumour size, a lower grade of coexistent HCC, and α-fetoprotein (AFP) positivity, and were associated with cholangiolocellular carcinoma subtype predominance (P < 0.05).				AFP	Positive correlation	ARID1A mutations correlated with alcoholic liver disease, smaller tumour size, a lower grade of coexistent HCC, and α-fetoprotein (AFP) positivity, and were associated with cholangiolocellular carcinoma subtype predominance (P < 0.05).			
27622582	ARID1A	genetic aberration	Cholangiocarcinoma; Gallbladder Carcinoma	The most frequent genetic aberrations (GAs) observed were tumor protein 53 (TP53; 27%), cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B; 27%), KRAS (22%), AT-rich interactive domain-containing protein 1A (ARID1A; 18%), and isocitrate dehydrogenase 1 (IDH1; 16%) in IHCCA; KRAS (42%), TP53 (40%), CDKN2A/B (17%), and SMAD4 (21%) in EHCCA; and TP53 (59%), CDKN2A/B (19%), ARID1A (13%), and ERBB2 (16%) in GBCA.									
27562491	ARID1A	loss of expression (mutation)	Endometrial Carcinoma	All ARID1A and ARID1B co-mutated tumours displayed loss of ARID1A expression in the undifferentiated component with 11 of 12 tumours also displaying absent staining in the endometrioid component.									
27270441	ARID1A	Mutation	Bladder Carcinoma	Non-silent sequence alterations were confirmed in 76 cancer-associated genes, including mutations that likely activate oncogenes TERT and PIK3CA, and alter chromatin-associated proteins (MLL3, ARID1A, CHD6 and KDM6A) and established BCa genes (TP53, RB1, CDKN2A and TSC1).									
28569218	KMT2C	Mutation (loss of function)	Breast Carcinoma	Furthermore, we detected 183 variants that overlap with somatic mutations in cancer and 41 variants associated with 38 possible loss-of-function genes, including PIK3CB and KMT2C.									
28548470	KMT2C	Mutation	Acute Lymphoblastic Leukemia	A total of 86 variants were located in leukaemia-related genes of which 32 variants were located in the coding regions of GLI2, SP140, GATA2, SMAD5, KMT2C, CDH17, CDX2, FLT3, PML and MOV10L1.									
28548470	KMT2C	Mutation	Colorectal Carcinoma	Recurrent mutations in ARID1A (44%), SMARCA4 (17%), MLL2 (44%), MLL3 (67%), SETD2 (17%) and TET2 (50%) genes involved in histone modification and chromatin remodelling were identified in UCHR subjects.									
27997699	KMT2C	Mutation	Endometrial Carcinoma	For the first time, we show that mutations in chromatin remodelling-related genes (KMT2D, KMT2C, SETD1B and BCOR) and in DNA-repair-related genes (BRCA1, BRCA2, RAD50 and CHD4) are frequent in this subtype of endometrial cancer.									
27904775	KMT2C	Mutation	Bilateral Breast Carcinoma	Mutations were present in 80 tumors (54/76 patients; 71%), were mostly tumor-private (90%), more frequent in TP53 (19%), PIK3CA (14%), CDH1, GATA3, MLL3.									
27270441	KMT2C	Mutation	Bladder Carcinoma	Non-silent sequence alterations were confirmed in 76 cancer-associated genes, including mutations that likely activate oncogenes TERT and PIK3CA, and alter chromatin-associated proteins (MLL3, ARID1A, CHD6 and KDM6A) and established BCa genes (TP53, RB1, CDKN2A and TSC1).									
28608921	KMT2D	Mutation	Esophageal Squamous Cell Carcinoma	Metastatic ESCCs harbour frequent mutations of TP53, KMT2D, ZNF750, and IRF5.									
28007623	KMT2D	Mutation	Small Cell Lung Carcinoma	We found that KMT2D mutation in human SCLC cell lines was associated with reduced lysine methyltransferase 2D protein levels and reduced monomethylation of histone H3 lysine 4, a mark associated with transcriptional enhancers.				Lysine methyltransferase 2D protein; monomethylation of histone H3 lysine 4	Association; reduce monomethylation	We found that KMT2D mutation in human SCLC cell lines was associated with reduced lysine methyltransferase 2D protein levels and reduced monomethylation of histone H3 lysine 4, a mark associated with transcriptional enhancers.			
27997699	KMT2D	Mutation	Endometrial Carcinoma	For the first time, we show that mutations in chromatin remodelling-related genes (KMT2D, KMT2C, SETD1B and BCOR) and in DNA-repair-related genes (BRCA1, BRCA2, RAD50 and CHD4) are frequent in this subtype of endometrial cancer.									
27906449	KMT2D	Mutation	Skin Squamous Cell Carcinoma	The authors identified genes demonstrating higher mutation frequencies in metastatic cSCC compared with primary tumors, including the chromatin remodeling gene lysine methyltransferase 2D (KMT2D) and the classic skin tumor suppressor tumor protein p53 (TP53), which was found to be mutated in 54% of primary tumors compared with 85% of metastatic tumors (P<.0001).									
27389057	KMT2D	Mutation	Follicular Lymphoma	The genes most frequently mutated in tFL included KMT2D (MLL2), CREBBP, EZH2, BCL2 and MEF2B.									
28115406	L3MBTL3	Mutation	Colorectal Carcinoma; Breast Carcinoma; Ovarian clear cell Tumor; Prostate Carcinoma	Variants inL3MBTL3were associated with colorectal, overall breast, ER-negative breast, clear cell ovarian, and overall and aggressive prostate cancer risk (e.g., rs9388766: OR = 1.06; 95% CI = 1.03-1.08; q = 0.02).									
28473981	MBD1	Underexpression (hypermethylation)	Colorectal Carcinoma	After comparing the methylation level of screened genes, we found that MBD1 gene had downregulated mRNA expression and upregulated methylation levels in advanced CRC and continuously upregulated methylation level in the progression of CRC.				SP1	Binding	Further enrichment analysis of transcription factor binding site identified that SP1 binding site had higher enrichment and could bind withMBD1. In conclusion,MBD1may be a tumor suppressor gene in advanced CRC and affect the development and metastasis of CRC by regulating 8 tumor suppressor genes through binding with SP1.			
28683589	LMNA	Mutation	Mesenchymal Cell Neoplasm	Using next-generation DNA sequencing, TMP3-NTRK1 fusions were identified in 4 cases, an LMNA-NTRK1 fusion in one case, and a variant EML4-NTRK3 fusion in one case.				NTRK1	Fusion	Using next-generation DNA sequencing, TMP3-NTRK1 fusions were identified in 4 cases, an LMNA-NTRK1 fusion in one case, and a variant EML4-NTRK3 fusion in one case.			
27898661	MBD3	Underexpression	Pancreatic Carcinoma	First, we find that MBD3 expression is lower in pancreatic cancer tissues than that in non-tumour tissues, and patients with lower MBD3 levels survive significantly less than those with higher levels.							Vimentin; α-SMA; Snail; N-cadherin; β-catenin; E-cadherin; TGF-β; p-Smad2; p-Smad3	Negative regulation; negative regulation; negative regulation; negative regulation; negative regulation; positive regulation; negative regulation; negative regulation; negative regulation	Also, MBD3 knockdown remarkably increases mesenchymal markers expression of Vimentin, α-SMA, Snail, N-cadherin, β-catenin, and downregulates epithelial markers expression of E-cadherin. Further evidence reveals that MBD3 knockdown up-regulates expression of TGF-β, and then activates p-Smad2 and p-Smad3, while MBD3 overexpression results in downregulation of TGF-β, p-Smad2, and p-Smad3. MBD3 inhibits EMT in pancreatic cancer cells probably via TGF-β/Smad signalling, and may be a new candidate target for diagnostics and prognosis of pancreatic cancer.
27791010	MBD3	Copy Number Loss	Endometrial Carcinomaetrial Serous Adenocarcinoma	We also found frequent deletions of the genes TP53 and MBD3 (a member with CHD4 of the nucleosome remodeling deacetylase complex) and frequent amplification of chromosome segments containing the genes PIK3CA, TERT, and MYC Stable transgenic expression of H2A and H2B in a uterine serous carcinoma cell line demonstrated that mutant, but not wild-type, histones increased expression of markers of epithelial-mesenchymal transition (EMT) as well as tumor migratory and invasive properties, suggesting a role in sarcomatous transformation.									
28603423	MECOM	Overexpression	Squamous Cell Carcinoma	EVI1 high expression was significantly associated with a poorer overall 5-year survival rate of SCC (P=0.021). Moreover, EVI1 high expression was identified as an independent prognostic factor of SCC, predicting the unfavorable prognosis (P=0.013).									
28538183	MECOM	Mutation	Acute Myeloid Leukemia	Here, we compared the transcriptional networks of two types of AML with chromosomal translocations of the RUNX1 locus that fuse the RUNX1 DNA-binding domain to different regulators, the t(8;21) expressing RUNX1-ETO and the t(3;21) expressing RUNX1-EVI1. Despite containing the same DNA-binding domain, the two fusion proteins display distinct binding patterns, show differences in gene expression and chromatin landscape, and are dependent on different transcription factors. RUNX1-EVI1 directs a stem cell-like transcriptional network reliant on GATA2, whereas that of RUNX1-ETO-expressing cells is more mature and depends on RUNX1.				RUNX1	Fusion	Here, we compared the transcriptional networks of two types of AML with chromosomal translocations of the RUNX1 locus that fuse the RUNX1 DNA-binding domain to different regulators, the t(8;21) expressing RUNX1-ETO and the t(3;21) expressing RUNX1-EVI1. Despite containing the same DNA-binding domain, the two fusion proteins display distinct binding patterns, show differences in gene expression and chromatin landscape, and are dependent on different transcription factors. RUNX1-EVI1 directs a stem cell-like transcriptional network reliant on GATA2, whereas that of RUNX1-ETO-expressing cells is more mature and depends on RUNX1. However, both types of AML are dependent on the continuous expression of the fusion proteins.			
28467961	MECOM	SNP	Nasopharyngeal Carcinoma	 Among the 15 SNPs detected in the meta-analysis, miR-146a (rs2910164, C>G), HCG9 (rs3869062, A>G), HCG9 (rs16896923, T>C), MMP2 (rs243865, C>T), GABBR1 (rs2076483, T>C), and TP53 (rs1042522, C>G) were associated with decreased susceptibility to NPC, while GSTM1 (+/DEL), IL-10 (rs1800896, A>G), MDM2 (rs2279744, T>G), MDS1-EVI1 (rs6774494, G>A), XPC (rs2228000, C>T), HLA-F (rs3129055, T>C), SPLUNC1 (rs2752903, T>C; and rs750064, A>G), and GABBR1 (rs29232, G>A) were associated with increased susceptibility to NPC.									
28338652	MECOM	Mutation	Myeloproliferative Neoplasm	However, the clinical importance of 3q26.2/EVI1 rearrangement in classical Philadelphia chromosome-negative myeloproliferative neoplasms is unknown. Here we reported 15 patients with classical Philadelphia chromosome-negative myeloproliferative neoplasms showing 3q26.2 rearrangement, including inv(3)(q21q26.2) (n=6), t(3;21)(q26.2;q22)(n=4), t(3;3)(q21;q26.2)(n=3), inv(3)(q13.3q26.2)(n=1), and t(3;12)(q26.2;p13)(n=1).									
28209621	MECOM	Overexpression	Breast Carcinoma	Analyzing a tissue microarray of 608 breast carcinoma patient specimens, we documented EVI1 overexpression in both estrogen receptor-positive (ER(+)) and estrogen receptor-negative (ER(-)) breast carcinomas.									
27784745	MECOM	Overexpression	Acute Myeloid Leukemia	RNA sequencing revealed distinct gene and miRNA expression patterns between the sole -7 and non -7 AML cases, with reduced expression, as expected, of many genes and miRNAs mapped to chromosome 7, and overexpression of ID1, MECOM, and PTPRM, among others.									
27617580	MECOM	Overexpression	Prostate Carcinoma	Instead, in a PCa progression cohort comprising 219 samples from patients with primary PCa, lymph node and distant metastases, EVI1 protein was heterogeneously distributed within samples and high expression is associated with tumor progression (P<0.001), suggesting EVI1 induction as a driver event.									
28291253	MECP2	Overexpression	Colorectal Carcinoma	In addition, we found a DNA methyl-CpG-binding protein, Mecp2, was up-regulated in ACS tissues via mRNA sequencing.							c-Met; miR-137	Negative regulation; positive regulation	We also confirmed c-Met expression can be up-regulated by silencing of miR-137 and suppressed by coexpression of Mecp2 and miR-137. These findings highlight the critical role of miR-137-c-Met nexus in CRC development and reveal Mecp2-regulated epigenetic silence causes the downregulation of miR-137 in colorectal adenoma and carcinoma.
28131747	MECP2	Overexpression	Gastric Carcinoma	Here we report that MeCP2 is highly expressed in primary GC tissues and the expression level is correlated with the clinicopathologic features of GC.							FOXF1; MYOD1;  Wnt5a/β-Catenin signaling pathway; MYOD1-mediated Caspase-3 signaling pathway	Negative regulation; negative regulationl regulation; regulation	The results suggest that MeCP2 binds to the methylated CpG islands of FOXF1 and MYOD1 promoters and inhibits their expression at the transcription level. Furthermore, we show that MeCP2 promotes GC cell proliferation via FOXF1-mediated Wnt5a/β-Catenin signaling pathway and suppresses apoptosis through MYOD1-mediated Caspase-3 signaling pathway.
27843499	MECP2	Mutation	Glioblastoma	Here, using retrotransposon capture sequencing (RC-seq), we surveyed L1 mutations in 14 tumours classified as glioblastoma multiforme (GBM) or as a lower grade glioma. In four GBM tumours, we characterised one probable endonuclease-independent L1 insertion, two L1-associated rearrangements and one likelyAlu-Alurecombination event adjacent to an L1. These mutations included PCR validated intronic events in MeCP2 and EGFR.									
28701629	MEN1	Mutation	Pituitary Gland Neoplasm	Genetic analysis revealed that the tumor had homozygous gene mutation of MEN1 associated with pituitary tumorigenesis and mutS homolog 6 (MSH6) gene. 				MSH6	Association	 Furthermore, immunohistochemical analysis showed that MLH1 and MSH6 immunoexpression were negative. We reveal for the first time that MMR abnormality could cause somatic mutation of MEN1 and pituitary tumor occurrence is associated with Lynch syndrome.			
28674121	MEN1	Mutation	Neuroendocrine Neoplasm	Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenicMEN1variants (11q13), MEN2A and MEN2B are due to pathogenicRETvariants (10q11.21), MEN4 is due to pathogenicCDKN1Bvariants (12p13.1), and the HPT-JT syndrome is due to pathogenicCDC73variants (1q25).									
28503312	MEN1	Mutation	Pancreatic Neoplasm; duodenal Neoplasm	In the present study, using whole-exome sequencing, we analyzed germline and somatic genetic changes in blood cells, two pancreatic endocrine tumors and one duodenal tumor obtained from a patient with MEN1 gastrinoma. We found that this patient possessed a novel germline mutation of theMEN1gene [NM_137099.2:c.1505dupA (p.Lys502Lysfs); the localization was Chr11:64572134 on Assembly GRCh37], in which an adenine insertion in codon 502 of theMEN1gene resulted in a frame shift and a premature stop codon. 									
28442921	MEN1	Underexpression	Ovarian Carcinoma	Menin is encoded by MEN1, a tumor suppressor gene, that is usually downregulated in ovarian cancer.	miR-762	Negative regulation	In addition, we found that miR-762 can downregulate the expression of menin through a binding site in its 3'-UTR and consequently upregulate the Wnt cell signaling pathway to promote the development of ovarian cancer.						
28329921	MEN1	Mutation	Neuroendocrine Neoplasm	Here, we report a case of MEN1 with neuroendocrine tumors (NETs) in the stomach, duodenum, and pancreas. Genetic testing was performed, and a heterozygous mutation was detected in the MEN1 gene, which is located on 11q13.									
28220018	MEN1	Mutation	Pituitary Gland Adenoma	Eleven patients (25%) had a rare variant across the eight FPTS genes tested:AIP(p.A299V, p.R106C, p.F269F, p.R304X, p.K156K, p.R271W),MEN1(p.R176Q),SDHB(p.A2V, p.S8S),SDHC(p.E110Q) andSDHD(p.G12S), with two patients harbouring dual variants.									
28199314	MEN1	Mutation	Pancreatic Neuroendocrine Tumor	Clinically sporadic PanNETs contain a larger-than-expected proportion of germline mutations, including previously unreported mutations in the DNA repair genes MUTYH, CHEK2 and BRCA2. Together with mutations in MEN1 and VHL, these mutations occur in 17% of patients.									
28179320	MEN1	Mutation	Neuroendocrine Neoplasm	A total of 494 genetic variants were discovered, four of which were identified as pathogenic. All pathogenic variants were validated using Sanger sequencing and were found exclusively in menin 1 (MEN1) and death domain associated protein (DAXX) genes.									
28130400	MEN1	Mutation	Gastrointestinal Stromal Tumor	The mostrelevantsomaticoncogenicmutationsidentifiedwere inTP53,MEN1,MAX,FGF1R,CHD4, and CTDNN2.									
28098761	MEN1	 genetic alteration	Neuroendocrine Neoplasm	Genomic analysis has revealed NETs G1/G2 have genetic alterations in chromatin remodeling genes such asMEN1,DAXXandATRX, whereas NECs have an inactivation ofTP53andRB1, and these data suggest that different treatment approaches would be required for NET G1/G2 and NEC.									
28087162	MEN1	Underexpression	Cholangiocarcinoma	Menin expression was decreased in advanced CCA specimens, whereas miR-24 expression was increased in CCA.	miR-24	Negative regulation	Inhibition of miR-24 increased menin protein expression while decreasing proliferation, angiogenesis, migration, and invasion. miR-24 was shown to negatively regulate menin expression by luciferase assay.						
27913610	MEN1	Mutation	Neuroendocrine Neoplasm	Somatic mutations of three potential tumor-related genes (HRAS, PAK1 and MEN1) might contribute to the tumorigenesis of thymic neuroendocrine tumors with EAS.									
27071708	MEN1	Mutation	Parathyroid Adenoma	Recurrent mutations in the MEN1 gene have been confirmed by the whole-exome sequencing in 35% of PAs, suggesting that non-protein-coding genes, regulatory elements or epigenetic derangements may also have roles in the majority of PAs.									
28471446	MINA	Overexpression	Hepatocellular Carcinoma	Clinically, we found that MDIG was frequently overexpressed in human HCCs (69.7%; n=155) and was significantly associated with histological grade and hepatitis B virus infection.	IKZF1	Negative regulation	In this study, we report that MDIG and MYC were negatively regulated by IKZF1.						
28672945	MGMT	Hypermethylation	Small Cell Lung Carcinoma	Of the 33 examined SCLC specimens, MGMT promoter methylation was detected in 17 patients (51.5%), and no IDH1/2 mutations were detected in the analyzed samples.									
28644424	MGMT	Hypermethylation	Lung Carcinoma 	The present meta-analysis demonstrates that methylated SOX17, CDO1, ZFP42, TAC1, FAM19A4, FHIT, MGMT, p16, and RASSF1A are potential superior biomarkers for the screening and auxiliary detection of lung cancer.									
28621225	MGMT	Loss of Expression; Underexpression (hypermethylation)	Esophageal Adenocarcinoma	 Loss of O-6-methylguanine-DNA methyltransferase protein was very frequent in the incidence of esophageal cancer from North Indian patients, and methylation of the promoter region of O-6-methylguanine-DNA methyltransferase was significantly associated in its downregulation.									
28574607	MGMT	Underexpression	Glioblastoma	MGMT protein expression was quantified in tumour cells in 171 GBMs from the population-based Region of Southern Denmark (RSD)-cohort using a double immunofluorescence approach. When divided at the median, patients with low expression of MGMT protein (AF-low) had the best prognosis (HR = 1.5, P = 0.01).									
28573642	MGMT	Hypermethylation	Epstein Barr virus Oral Squamous Cell Carcinoma	This study aimed to investigate the association between EBV infection and promoter methylation patterns of tumor-associated genes in OSCC tissues. A total of 165 of formalin-fixed paraffin-embedded OSCC tissues were studied (68 of EBV positive and 97 of EBV negative). The promoter methylation patterns were investigated for four tumor-associated genes, E-cadherin, p16INK4a, p14ARF, and MGMT, by using methylation-specific polymerase chain reaction (MSP). The frequencies of gene promoter hypermethylation in all cases were 47.3% for E-cadherin, 92.7% for p16INK4a, 74.5% for p14ARF, and 35.8% for MGMT.									
28556593	MGMT	Loss of Expression	Squamous Cell Carcinoma	Loss of MGMT and RRM1 was common among the four cohorts and may be predictive of response to cytotoxic therapies not currently being used to treat these cancer types.									
28551847	MGMT	Mutation	Prostate Carcinoma	Patients with PC were more likely to harbor an EGFR (20 vs. 12.3%, p<0.001) or MGMT mutation (17.6 vs. 11.6%, p<0.001).									
28499365	MGMT	SNP	Thyroid Gland Papillary Carcinoma	The intronic SNP rs2296675 in MGMT was associated with an increased PTC risk [per minor allele odds ratio (OR) 2.54 95% CI 1.50, 4.30, P per allele=0.0006, P corr.= 0.05], and gene-wide association testing highlighted a possible role for ERCC5 (P Gene=0.01) and PCNA (P Gene=0.05) in addition to MGMT (P Gene=0.008).									
28458179	MGMT	aberrant methylation	Oral Cavity Squamous Cell Carcinoma	Significant association of MGMT promoter methylation with OSCC (p<0.0001) was observed in the case-control study.									
28445279	MGMT	Hypermethylation	Gastric Carcinoma	The results of this meta-analysis suggested that MGMT gene-promoter hypermethylation was significantly associated with an increased risk of GC, especially in Asians.									
28425046	MGMT	Overexpression	Glioblastoma 	Moreover, the protein levels of MGMT were upregulated in clinical glioblastoma specimens and inversely correlated with miR-198 levels.	miR-198	Negative regulation	O(6)-methylguanine-DNA methyltransferase (MGMT) was identified as a direct target of miR-198, and miR-198 overexpression prevented the protein translation of MGMT.						
28421310	MGMT	Overexpression	Oral Cavity Carcinoma	The purpose of the study was to assess the levels of certain proteins in a tumour and surgical margin in a group of patients with oral cavity cancer. The levels of DAPK1, MGMT, CDH1, SFRP1, SFRP2, RORA, TIMP3, p16, APC and RASSF1 proteins were measured by ELISA in tissue homogenates. The protein levels of DAPK1, MGMT, CDH1, SFRP2 and RASSF1 were significantly higher in tumour tissue than in the margin, contrary to TIMP3 which was lower in the tumour itself.									
28384044	MGMT	Hypermethylation	Gastric Carcinoma	The meta-analysis results demonstrated that the frequency of MGMT promoter methylation was higher in gastric cancer tissues compared with adjacent tissues and normal tissues (OR=4.06, 95% CI: 2.55-6.46, p<0.001; OR=8.85, 95% CI: 1.15-68.23, p=0.036; respectively). An assessment of the correlation between MGMT promoter methylation and clinicopathological characteristics indicated that MGMT promoter hypermethylation was significantly associated with tumor-node-metastasis stage, lymph node metastasis, and distant metastasis (OR=2.11, 95% CI: 1.18-3.75, p=0.011; OR=1.99, 95% CI: 1.47-2.68, p<0.001; and OR=3.60, 95% CI: 2.17-5.95, p<0.001; respectively).									
28314386	MGMT	Hypomethylation	Glioblastoma	The O (6) -methylguanine methyltransferase (MGMT) gene is frequently unmethylated in patients with glioblastoma (GBM), rendering them non-responsive to the standard treatment regime of surgery followed by concurrent radiotherapy (RT) and temozolomide.									
28266716	MGMT	Hypomethylation	Glioblastoma	Therefore, we evaluated the associations between MGMT promoter methylation and prognosis of patients with glioblastoma (GBM). Data from 34 studies showed that MGMT methylated patients had better OS, compared to GBM unmethylated patients (pooled HRs, 0.494; 95%CI 0.412-0.591; p=0.001).									
28230024	MGMT	Hypermethylation	Non-Small Cell Lung Carcinoma	The hypermethylation rate of tumor tissue, plasma, BLF, and control tissue of MGMT gene in NSCLC patients were 0.34 ± 0.20, 0.18 ± 0.14, and 0.39 ± 0.23; the statistical heterogeneity across the studies was evaluated by Chi-square and I2-test. Moreover, no statistical heterogeneity was existed in the aspects of hypermethylation for plasma, BLF, and tissue (P < 0.05). Meta-analysis showed the hypermethylation rate in tumor tissue was significantly higher than normal lung tissue (OR = 4.18, 95% CI: 2.76-6.32) and plasma (OR = 2.37, 95% CI: 1.49-3.75) in NSCLC patients.									
28168370	MGMT	Hypomethylation	Glioblastoma	We retrospectively analysed 108 patients with primary glioblastoma. The discovery cohort consisted of 62 patients from the cancer genome atlas (TCGA). Patients with unmethylated MGMT and high HRV had significantly shorter survival (median survival: 9.3 vs. 18.4months, log-rank P=0.002).									
28135856	MGMT	Hypermethylation	Gastric Carcinoma; Esophageal Carcinoma; Colorectal Carcinoma	The methylation frequencies of MGMT gene promoter were 41.4%, 34.2%, and 44.2% in stomach, esophageal, and colorectal cancer cases while as 16.6, 13.3, and 13.3 in respective controls. MGMT protein was found downregulated in controls of all GIT.									
28078123	MGMT	Loss of Expression (hypermethylation)	Gastric Carcinoma	A hospital based case-control study; including 200 GC cases and 200 matched controls from patients who went surgical resection. Promoter hypermethylation was determined by Methylation Specific Polymerase chain reaction. The expression of MGMT & RASSF1A protein was examined by Western blotting technique. Frequency of promoter region hypermethylation of MGMT gene were 46.5% in cases and 5.5% in controls (P<0.05) while as in case of RASSF1A frequency was 44% in cases and 4.5% in controls (P<0.05). Further, frequency of hypermethylation of both genes was found predominant in males, aged and advanced pathological stage subjects. Loss of MGMT expression was found in 46.5% cases (P<0.05) while as loss of RASSF1A expression was found in 40.5% cases (P<0.05).									
27668860	MGMT	Hypomethylation	Glioma	Preoperative MRIs were collected from 65 newly diagnosed patients with histologically confirmed high-grades gliomas. These samples were analyzed for TP53 mutations and MMP-9.PTEN, MGMT, EGFR and IDH1 statuses using a statistical voxel-based lesion-symptom mapping (VLSM) method, which correlates the anatomical location of HGGs with their molecular profile. The lack of MGMT promoter methylation deep in the right frontal lobe region indicates a poor prognosis.									
27267851	MGMT	SNP; Hypermethylation	Colorectal Carcinoma	An association between rs16906252C>T and increased risk of developing MGMT-methylated colorectal cancer in the Sydney sample was observed [OR, 3.3; 95% confidence interval (CI), 2.0-5.3; P < 0.0001], which was replicated in the ACCFR sample (OR, 4.0; 95% CI, 2.4-6.8; P < 0.0001).									
27055523	MGMT	SNP	Glioma	Carriers with rs12917 CC genotype in MGMT gene had higher risk of glioma in Caucasian than other non-CC genotype carriers.									
28672935	KMT2B	SNP	Colorectal Carcinoma	Although no association between CNVs and lymph node metastases in patients with colorectal cancer was observed in the present study, SNPs in SLC28A3, BRCA1, RRM2, PMS2, CDA, EPHX1, RALY, CD33, BCL10, ETV1, MST1R, KMT2B, BCL2, LSM3, TTF1 and MAP3K1 were significantly associated with colorectal cancer.									
28502558	MTA2	Overexpression	Gastric Carcinoma	The present study detected metastasis-associated protein 2 (MTA2) and Histone deacetylases 1 (HDAC1) proteins that were overexpressed in gastric cancer tissues compared with that in adjacent gastric tissue.				HADC1	Positive correlation	The present findings indicated a tight correlation between the MTA2 and HDAC1 expression level and lymph node metastasis and TNM staging in gastric cancers.			
27807324	MTA2	Overexpression	Cervical Carcinoma 	Theexpression of MTA2 mRNA innormal cervical tissue, CIN and cervical squamous carcinomas tissues was0.437±0.028, 0.737±0.102 and 1.172±0.068, respectively. The positive rate was associated with FIGO stage and lymph node metastasis, whereas there was no correlation with the age of patients or the degree of tumor differentiation. The result of survival analysis showed poor overall survival time in the patients with high expression of MTA2.									
27597141	MTA2	SNP	Breast Carcinoma	Single nucleotide polymorphisms (SNPs) in pathways influencing lymph node (LN) metastasis and estrogen receptor (ER) status in breast cancer may partially explain inter-patient variability in prognosis. In EA women, MTA2 was associated with overall breast cancer risk (pARTP=0.004), regardless of ER status, and with LN- disease (pARTP=0.01).									
28418887	MTA3	Underexpression	Colorectal Carcinoma	Results showed that MTA3 expression in colorectal cancer was significantly decreased in colorectal cancer compared with normal specimens.									
28351306	MTA3	Overexpression	Colorectal Carcinoma	A total of 80 cases of colorectal cancer tissues were examined by immunohistochemistry for MTA3 protein expression. We analyzed the relationship between MTA3 and clinical factors and the results showed that MTA3 was overexpressed in 51.25% (41/80) cancer cases.							cyclin D1; cyclin E; Bcl2; Bax; Wnt signaling pathway	Positive regulation; positive regulation; positive regulation; negative regulation; positive regulation	In addition, we found that MTA3 positively regulated cell cycle proteins including cyclin D1 and cyclin E. It also upregulated Bcl2 and downregulated Bax expression. Furthermore, we found that MTA3 could activate Wnt signaling pathway by upregulating Wnt target proteins.
28701629	MSH6	Mutation	Pituitary Gland Neoplasm	We suggest that the identified gene mutations, especially those of MSH6 and MLH1 genes, may be involved in the pathogenesis and proliferation of pituitary tumor.									
28696559	MSH6	Mutation	Lynch Syndrome	Pathogenic vatiants in MSH6 have been reported in approximately 7-10% of families with Lynch syndrome.									
28687971	MSH6	Mutation	Hereditary Pancreatic Carcinoma	We identified 16 of 53 participants (30%) with a pathogenic (P) or likely pathogenic (LP) variant that may be related to their hereditary pancreatic cancer predisposition; seven had mutations in genes associated with well-known cancer syndromes (13%) [ATM (2), BRCA2 (3), MSH2 (1), MSH6 (1)].									
28675510	MSH6	Overexpression	Colorectal Carcinoma	Of the 74 TSGs evaluated, 22 were associated with carcinoma/normal mucosa differential expression. Ten TSGs were up-regulated (FAM123B, RB1, TP53, RUNX1, MSH2, BRCA1, BRCA2, SOX9, NPM1, and RNF43); six TSGs were down-regulated (PAX5, IZKF1, GATA3, PRDM1, TET2, and CYLD); four were associated with MSI tumors (MLH1, PTCH1, and CEBPA down-regulated and MSH6 up-regulated); and two were associated with MSS tumors (PHF6 and ASXL1 up-regulated).									
28664346	MSH6	Loss of Expression	Gastric Carcinoma	Patients with loss of MLH1/PMS2 without BRAF mutations or with absence of MLH1 promoter methylation and those with loss of MSH2/MSH6 were referred to GC.									
28646840	MSH6	Loss of Expression	Colorectal Carcinoma	Of 322 CRCs, 33 cases were found to be deficient-MMR; 22 of these had concurrent loss of MLH1 and PMS2, followed by concurrent loss of MSH2 and MSH6 in 8 CRCs.									
28640387	MSH6	Mutation	Colorectal Carcinoma	A total of 265 patients with CRC who were enrolled in the Hispanic Colorectal Cancer Study were included in the current study. Among individuals with dMMR tumors, 13 (61.9%) had a germline MMR mutation (MutL homolog 1 [MLH1] in 6 patients; MutS homolog 2 [MSH2] in 4 patients; MutS homolog 6 [MHS6] in 2 patients; and PMS1 homolog 2, mismatch repair system component [PMS2] in 1 patient).									
28608265	MSH6	Mutation	Lynch Syndrome	Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAF (wild type)/normal MLH1 sequence.									
28605329	MSH6	Loss of Expression	Colon Adenocarcinoma	Expression loss of MLH1, MSH2, MSH6, PMS2, PTEN, Smad4 and E-cadherin, and overexpression of ALDH1, CD44, CAIX, P504S (AMACR), TGFΒ, and ZEB1 were statistically significant in CRA compared to normal colon mucosa.									
28585041	MSH6	Loss of Expression	Colorectal Carcinoma	Out of a total of 371 cases, 62 (16.7%) cases were of stage II CRC, out of which 43 (12%) were treatment naive. Among the selected 62 cases, 26 (41.9%) demonstrated loss of MMR proteins and 36 (58.0%) cases had intact nuclear expression. Out of the cases with MMR loss, 38.4% showed loss of MLH1 and PMS2, 30.7% showed loss of MSH2 and MSH6, 26.9% showed isolated loss of PMS2 and 3.8% showed isolated loss of MSH6.									
28577310	MSH6	Mutation	Colorectal Carcinoma	Three patients had double somatic hits in MSH2 or MSH6, and another 2 had somatic alterations in other MMR genes and/or proofreading polymerases. In conclusion, our comprehensive strategy combining germline and somatic mutational status of CRC-associated genes by means of a subexome panel allows the elucidation of up to 86% of MSH2-deficient suspected LS tumors.									
28573495	MSH6	Mutation	Colorectal Carcinoma	The entire coding region of RNF43 was Sanger sequenced in 24 colorectal cancers from 23 patients who either (i) carried a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH6, MSH2, PMS2), or (ii) showed immunohistochemical loss of expression of one or more of the DNA mismatch repair proteins, was BRAF wild type at V600E, were under 60years of age at diagnosis, and demonstrated no promoter region methylation for MLH1 in tumor DNA.									
28555354	MSH6	Loss of Expression	Lynch Syndrome	We report on a 52-year-old male with Lynch syndrome caused by deletion of chromosome 2p16.3-p21. The patient had intellectual disability and presented with a prostatic adenocarcinoma with an incidentally identified synchronous sigmoid adenocarcinoma that exhibited deficient MMR with an absence of MSH2 and MSH6 protein expression.									
28528517	MSH6	Mutation	Lynch Syndrome	By gene screening we investigated the role of MSH3 in 11 LS patients with truncating MSH6 germline variants and an unexplained MSH2 protein loss in their corresponding MSI-H tumours									
28523262	MSH6	Mutation	Lynch Syndrome	We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynch syndrome. Based on these findings, she underwent genetic counseling and testing that revealed a frameshift germline mutation at MSH6 (c. 3261dupC).									
28514183	MSH6	Mutation	Lynch Syndrome	We retrospectively reviewed clinical histories of patients who had multigene panel testing, including the MMR and EPCAM genes, between March 2012 and June 2015 (N = 34,981) and performed a series of statistical comparisons. Results Overall, MSH6 mutations were most frequent, followed by PMS2, MSH2, MLH1, and EPCAM mutations, respectively.									
28507641	MSH6	Underexpression	Breast Carcinoma; Skin Squamous Cell Carcinoma	We present the case of a 45-year-old-woman, diagnosed with breast cancer at 39years of age and skin squamous cell carcinoma (SCC) at 41years of age, without personal history of colorectal cancer. The microsatellite instability analysis performed on the skin SCC showed a low-level of microsatellite instability (MSI-Low). The immunohistochemical expression analysis of the four DNA mismatch repair proteins MLH1, MSH2, MSH6 and PMS2 showed a partial loss of the expression of MSH2 and MSH6 proteins.									
28489507	MSH6	Mutation	Lynch Syndrome	Purpose Current Lynch syndrome (LS) prediction models quantify the risk to an individual of carrying a pathogenic germline mutation in three mismatch repair (MMR) genes: MLH1, MSH2, and MSH6. Results Pathogenic mutations were detected in 1,000 (5%) of 18,734 patients in the development cohort; mutations included MLH1 (n = 306), MSH2 (n = 354), MSH6 (n = 177), PMS2 (n = 141), and EPCAM (n = 22).									
28466842	MSH6	Mutation	Endometrial Carcinoma; Colorectal Carcinoma;  Malignant Brain Neoplasm; Ovarian Carcinoma	We discover a translocation disrupting MLH1 and three mutations in MSH6 and PMS2 that increase endometrial, colorectal, brain and ovarian cancer risk.									
28460341	MSH6	Mutation; Loss of Expression	Brain Neoplasm	Comprehensive genomic profiling of the patient's resected brain tumor revealed mutations in six genes: PTEN, VHL, MSH6, NOTCH1, RB1, and TP53. Subsequently we performed immunohistochemical staining of the tumor tissue which demonstrated widespread loss of MSH6 with intact MSH2, MLH1, and PMS2.									
28452984	MSH6	Mutation	Chronic Myeloid Leukemia	In this study, we performed whole-exome sequencing to identify somatic mutations in 24 patients with newly diagnosed chronic phase CML who were registered in the JALSG CML212 study. We identified 191 somatic mutations other than the BCR-ABL1 fusion gene (median 8, range 1-17). Age, hemoglobin concentration and white blood cell counts were correlated with the number of mutations. Patients with mutations 6 showed higher rate of achieving major molecular response than those<6 (P=0.0381). Mutations in epigenetic regulator, ASXL1, TET2, TET3, KDM1A and MSH6 were found in 25% of patients.									
28451866	MSH6	Polymorphism	Colorectal Carcinoma	In conclusion, our data suggests that MSH6 Glu39Gly polymorphism is associated with the risk of developing sporadic colorectal cancer in polish population.									
28445943	MSH6	Mutation	Colorectal Carcinoma	Using molecular inversion probes (MIPs), we designed a targeted next-generation sequencing panel to identify mutations in seven CRC predisposing genes: APC, MLH1, MSH2, MSH6, PMS2, MUTYH and NTHL1.									
28423363	MSH6	Mutation	Breast Carcinoma; Ovarian Carcinoma	BC and OC patients recruited by our counseling service between 2012-2015 were included in this study. DNA was extracted from peripheral blood and a panel of 94 genes involved in hereditary tumors was analyzed by NGS. Patient clinical features of BC and OC and cancer family history were collected and compared to the patient genetic profile.A total of 255 women were analyzed, 57 of whom had a pathogenic mutation in BRCA1/2 genes, and 17 carried pathogenic mutations in other genes, such as PALB2, ATM, BRIP1, RAD51D, MSH6, PPM1D, RECQL4, ERCC3, TSC2, SLX4 and other Fanconi anemia genes									
28133107	MSH6	Loss of Expression	Colorectal Carcinoma	The subjects were 254 patients with Stage IV colorectal cancer whose tumors were immunohistochemically stained for MMR proteins, MLH1, MSH2, MSH6, and PMS2. Four patients demonstrated both MLH1 and PMS2 loss, while 3 patients demonstrated both MSH2 and MSH6 loss.									
28114191	MSH6	Loss of Expression	Endometrial Carcinoma	A total of 41 cases were identified and 27 (66%) tumors demonstrated MMR protein deficiency with a comparable frequency across the contributing centers (ranging from 56% to 83%). Among the MMR protein-deficient cases, 59% showed concurrent MLH1 and PMS2 loss, 33% showed concurrent MSH2 and MSH6 loss, and 4% showed isolated PMS2 or MSH6 loss.									
27928858	MSH6	Mutation	Lynch Syndrome	To our knowledge, this is the first case of endometrial carcinoma of the LUS with MSH6 germline mutation.									
27486019	MSH6	Mutation	Prostate Carcinoma	We report 8 additional genes with suggestive evidence of association, including the DNA repair genes PARP2 and MSH6 Finally, we observed an excess of rare truncation variants in 5 genes, including the DNA repair genes MSH6, BRCA1, and BRCA2 This adds to the growing body of evidence that DNA repair pathway defects may influence susceptibility to aggressive prostate cancer.									
27443514	MSH6	Mutation	Lynch Syndrome	Thirty-five patients (9.2%) had a deleterious mutation: 22 (5.8%) in Lynch syndrome genes (three MLH1, five MSH2, two EPCAM-MSH2, six MSH6, and six PMS2) and 13 (3.4%) in 10 non-Lynch syndrome genes (four CHEK2, one each in APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, NBN, PTEN, and RAD51C).									
27601186	MSH6	Mutation	Lynch Syndrome	 A total of 201unique disease-predisposing MMR gene mutations were identified in 369Lynch syndrome families. These mutations affected MLH1 in 40%, MSH2 in 36%, MSH6 in 18% and PMS2 in 6% of the families.									
27771121	MSH6	Loss of Expression	Waldenstrom Macroglobulinemia	Herein, we report a case of a male patient presenting Waldenstrom's macroglobulinemia since the age of 50 and which, after the age of 65 years, developed into sebaceous tumours (5 sebaceous adenomas, 1 sebaceoma, 1 sebaceous carcinoma) and colonic lesions (4 adenomas). The clinical phenotype was consistent with MTS. Somatic analysis carried out on one sebaceous tumour showed instability of the microsatellites with loss of expression of MSH2 and MSH6 although constitutional genetic analysis showed no germline mutations known to be harmful.									
27742654	MSH6	Mutation	Endometrial Carcinoma	Six hundred ninety- six endometrial cancers were analyzed for MSI (pentaplex panel) and MMR protein expression (IHC). Five of seven cases with solitary loss of PMS2 or MSH6 protein expression carried somatic gene variants.									
27713421	MSH6	Loss of Expression	Lynch Syndrome	MLH1 and PMS2 testing appear to have little utility in upper tract urothelial carcinoma; however, mismatch repair protein loss of MSH2 and/or MSH6 by immunohistochemistry seems relatively sensitive and specific for identifying patients with potential Lynch syndrome.									
27491556	MSH6	Mutation	Colorectal Carcinoma	Two novel variants described for the first time in Algerian families were identified in MLH1, c.881_884delTCAGinsCATTCCT and a large deletion in MSH6 gene from a young onset of CRC.									
27442838	MSH6	Loss of Expression	Colon Carcinoma; Rectal Carcinoma	Thirty-two consecutive cases of stage III/IV ovarian CCCs accessioned between 1992 and 2015 were examined. The tumours from two patients (6%), including the index case, showed loss of MSH2/MSH6 expression while MLH1/PMS2 staining was retained. The index patient subsequently developed colonic and rectal carcinomas that were also MSH2/MSH6-deficient, while the second patient had a genetically confirmed germline MSH2 mutation.									
26657901	MSH6	Mutation	Lynch Syndrome	Among first cancer detected in each patient the colorectal cancer cumulative incidences at 70years by gene were 46%, 35%, 20% and 10% for MLH1, MSH2, MSH6 and PMS2 mutation carriers, respectively.									
26371427	MSH6	Loss of Expression	Gastric Carcinoma	Loss of MLH1 and/or PMS2 was found in 30 (88%) MSI-GC, 3 (9%) showed loss of MSH2 and/or MSH6.									
27869162	KDM4B	Overexpression	Ovarian Carcinoma	Epithelial ovarian cancer (EOC) has poor prognosis and rapid recurrence because of widespread dissemination of peritoneal metastases at diagnosis. Multiple pathways contribute to the aggressiveness of ovarian cancer, including hypoxic signaling mechanisms. In this study, we have determined that the hypoxia-inducible histone demethylase KDM4B is expressed in 60% of EOC tumors assayed, including primary and matched metastatic tumors. Expression of KDM4B in tumors is positively correlated with expression of the tumor hypoxia marker CA-IX, and is robustly induced in EOC cell lines exposed to hypoxia.									
28413430	KDM6B	Genemic alteration	Non-Small Cell Lung Carcinoma	Genomic alterations were found most commonly in the TP53, EGFR, EPHB1, MLL3, APC, SETD2, KRAS, DNMT3A, RB1, CDKN2A, ARID1A, EP300, KDM6B, RAD50, STK11, and BRCA2 genes.									
28197626	KDM6B	Overexpression	Pleural Malignant Mesothelioma	Both Kdm6a and Kdm6b were found to be significantly overexpressed in MPM at the mRNA level.									
27983522	KDM6B	 Underexpression	Renal Cell Carcinoma	By comparing with adjacent normal tissues, the expression of JMJD3 (10/21 = 47.62%) and UTX (10/21 = 47.62%) were significantly upregulated in bladder cancer tissues and the expression of JMJD3 (15/35 = 42.86%) was significantly downregulated in RCC tissues.									
27983522	KDM6B	Overexpression	Bladder Carcinoma	By comparing with adjacent normal tissues, the expression of JMJD3 (10/21 = 47.62%) and UTX (10/21 = 47.62%) were significantly upregulated in bladder cancer tissues and the expression of JMJD3 (15/35 = 42.86%) was significantly downregulated in RCC tissues.									
27651311	KDM6B	Underexpression	Hepatocellular Carcinoma	Expression levels of JMJD3 in clinical specimens of hepatocellular carcinoma correlated inversely with patient survival.									
28714030	KDM5A	Overexpression	Ovarian Carcinoma	Compared with adjacent normal tissue, it was identified that KDM5A was highly expressed in ovarian cancer tissues.									
28137631	NCOA5	Mutation	Hepatocellular Carcinoma	Collectively, our data show that the T445A variation impairs the ability of NCOA5 to inhibit growth of HCC, suggesting that this variation may have potential to increase susceptibility to HCC comorbid with T2D.									
27847318	NCOA5	Overexpression	Luminal Breast Carcinoma	In the present study, we demonstrated that NCOA5 was significantly up-regulated in luminal breast cancer tissues compared with adjacent non-cancerous tissues both in validated cohort and TCGA cohort.									
28521488	NCOA3	Underexpression	Non-Small Cell Lung Carcinoma	The results of the present study demonstrate that high expression of microRNA (miR)-137 and low expression of steroid receptor coactivator-3 (SRC3) had a significant negative correlation in 40 NSCLC tissue samples.	miR-137	Negative regulation	In conclusion, the results of the present study suggest that miR-137 suppresses NSCLC cell proliferation by partially targeting SRC3.						
27831559	NCOA3	Overexpression	Taxol-resistent Breast Carcinoma	In this study, nuclear receptor coactivator 3 (NCOA3) was found to be significantly increased in taxol-resistant breast cancer tissues and cells.	miR-17; miR-20	Negative regulation	Furthermore, by luciferase reporter assays, we further validated that both miR-17 and miR-20b directly binded the 3'-untranslated region of NCOA3 mRNA and inhibited its expression in breast cancer cells.						
27781415	NCOA3	Overexpression	Esophageal Squamous Cell Carcinoma	SRC-3 overexpression is clinically and functionally relevant to the progression of human ESCC, and might be a useful molecular target for ESCC prognosis and treatment.									
27109102	NCOA3	Overexpression	Breast Carcinoma	Increased expression of NCOA3 was associated with poor prognosis and higher levels of XBP1-S in breast cancer tissues.	XBP1	Positive regulation	Here we show that NCOA3 is a transcriptional target of XBP1. We observed increased expression of NCOA3 during conditions of UPR and oestrogen (E2) stimulation. Further investigations revealed a role for the IRE1-XBP1 axis in the induction of NCOA3 during UPR and oestrogen signalling. We identify a novel role for NCOA3 in activation of PERK-ATF4 axis during UPR where knockdown of NCOA3 compromised the optimal activation of the PERK-ATF4 pathway. We found that NCOA3 is required for induction of XBP1 during E2 stimulation and uncover a positive feedback regulatory loop that maintains high levels of NCOA3 and XBP1 in breast cancer.						
27715462	KAT8	Underexpression	Gastric Carcinoma	Reduced hMOF activity was detected in GC tissues, which could be restored by CAP both in vivo and in vitro.							CAP	Positive regulation	The results showed that CAP could significantly suppress cell growth, while altering histone acetylation in GC cell lines. Further studies found that hMOF, a major histone acetyltranferase for H4K16, is central to CAP-induced epigenetic changes. Reduced hMOF activity was detected in GC tissues, which could be restored by CAP both in vivo and in vitro.
28521442	NCOA1	Underexpression	Gastric Carcinoma	Significantly decreased levels of STS, HSD3B1, ESR2, AR, NCOA1 and NCOR1 mRNA, in addition to significantly increased levels of CYP19A1 mRNA were demonstrated in tumoral tissue samples compared with adjacent healthy gastric tissue samples.									
28222670	NCOA1	Overexpression	Bladder Carcinoma	Here, we show that significantly higher levels of nuclear receptor coactivator 1 and significantly lower levels of miR-223-3p were detected in bladder carcinoma tissue, compared to the adjacent non-tumor tissue.	miR-233-3p	Negative regulation	In vitro, depletion of miR-223-3p increased bladder carcinoma cell invasion, which was abolished by overexpression of nuclear receptor coactivator 1. Bioinformatics studies demonstrate that miR-223-3p may bind to the 3'-UTR of nuclear receptor coactivator 1 messenger RNA to inhibit its protein translation in bladder carcinoma cells. 						
28060733	NCOA1	Overexpression	Hepatocellular Carcinoma	Furthermore, concomitant high expression of NCOA1 and low expression of miR-105-1 correlated with a shorter median OS and PFS in HCC patients.	miR-105-1	Negative regulation	Furthermore, concomitant high expression of NCOA1 and low expression of miR-105-1 correlated with a shorter median OS and PFS in HCC patients. In conclusion, our results provide the first evidence that NCOA1 is a direct target of miR-105-1 suggesting that NCOA1 and miR-105-1 may have potential prognostic value and may be useful as tumor biomarkers for the diagnosis of HCC patients.						
28097792	KAT6	Mutation	Acute Myeloid Leukemia	We describe the first case of a newborn with leukemia cutis found to have AML harboring a cryptic insertional t(8;16)(p11.2;p13.3) with associated KAT6A/CREBBP fusion identified exclusively by fluorescence in situ hybridization (FISH).				CREBBP	Fusion	We describe the first case of a newborn with leukemia cutis found to have AML harboring a cryptic insertional t(8;16)(p11.2;p13.3) with associated KAT6A/CREBBP fusion identified exclusively by fluorescence in situ hybridization (FISH).			
27893709	KAT6	Copy Number Gain; Overexpression	Breast Neoplasm	We found that MYST3 was amplified in 11% and/or overexpressed in 15% of breast tumors, and overexpression of MYST3 correlated with worse clinical outcome in estrogen receptor+ (ER+) breast cancers.							ERα	Positive regulation	Importantly, we discovered that knocking down MYST3 resulted in profound reduction of ERα expression, while ectopic expression of MYST3 had the reversed effect.
28249646	KDM6A	Mutation	Colorectal Carcinoma	Somatic mutations were also found in KDM6A, KMT2D, and other genes frequently mutated in colorectal and other cancers: FAT1, NBEA, RELN, RLP1B, and ZFHX3.									
28228601	KDM6A	Mutation	Bladder Urothelial Carcinoma	In summary, our study demonstrates that inactivating mutations ofKDM6A, which are common in urothelial bladder carcinoma, are potentially targetable by inhibiting EZH2.									
28197626	KDM6A	Overexpression	Pleural Malignant Mesothelioma	Both Kdm6a and Kdm6b were found to be significantly overexpressed in MPM at the mRNA level.									
27983522	KDM6A	Overexpression	Bladder Carcinoma	By comparing with adjacent normal tissues, the expression of JMJD3 (10/21 = 47.62%) and UTX (10/21 = 47.62%) were significantly upregulated in bladder cancer tissues and the expression of JMJD3 (15/35 = 42.86%) was significantly downregulated in RCC tissues.									
27235425	KDM6A	Mutation	Plasma Cell Myeloma	In diagnostic myeloma patient samples, we identify significant mutations in genes encoding the histone 1 linker protein, previously identified in other B-cell malignancies. Our data suggest an adverse prognostic impact from the presence of lesions in genes encoding DNA methylation modifiers and the histone demethylase KDM6A/UTX The frequency of mutations in epigenetic modifiers appears to increase following treatment most notably in genes encoding histone methyltransferases and DNA methylation modifiers.									
27491809	KDM6A	Mutation	Triple-Negative Breast Carcinoma	In case 2, a clonal KMT2C mutation was present in the cribriform adenoid cystic carcinoma, solid adenoid cystic carcinoma and high-grade triple-negative breast cancer components, whereas a mutation affecting MYB was present only in the solid and high-grade triple-negative breast cancer areas and additional three mutations targeting STAG2, KDM6A and CDK12 were restricted to the high-grade triple-negative breast cancer.									
27270441	KDM6A	Mutation	Bladder Carcinoma	Non-silent sequence alterations were confirmed in 76 cancer-associated genes, including mutations that likely activate oncogenes TERT and PIK3CA, and alter chromatin-associated proteins (MLL3, ARID1A, CHD6 and KDM6A) and established BCa genes (TP53, RB1, CDKN2A and TSC1).									
28693517	KDM4A	Overexpression	Nasopharyngeal Carcinoma	JMJD2A was expressed at high levels in NPC tumor tissues and cell lines.							LDHA; LDH	Negative regulation; positive regulation	JMJD2A silencing decreased LDHA expression and the intracellular ATP level and increased LDH activity, lactate production and glucose utilization, while JMJD2A overexpression produced the opposite results.
28611305	KDM4A	Mutation	Oral Squamous Cell Carcinoma	The purpose of this study was to examine KDM4A as an independent prognostic marker in oral squamous cell carcinoma, using multicenter tissue microarrays. The expression of KDM4A was significantly correlated with lymph node metastasis and TNM stage. KDM4A overexpression was associated with poor overall survival, and it was found to be a statistically significant independent predictor of all-cause mortality. 									
27835890	KDM3A	Overexpression	Cervical Carcinoma 	Here, we showed that the expression of JMJD1A is increased in cervical cancer cells and tissues, and that suppression of JMJD1A inhibits proliferation, migration, and invasion of cervical cancer cells.				c-Myc	Positive correlation	JMJD1A protein levels correlated with c-Myc expression (P<0.001), and high co-expression of the two proteins correlated with a poor prognosis.			
28706445	KDM2B	Overexpression	Malignant Ovarian Neoplasm	We found that KDM2B expression was gradually increased in ovarian tumors, with the highest expression found in the malignant ovarian tissues, and the differences in KDM2B expression among the different International Federation of Gynecology and Obstetrics stages and pathological grades/types were statistically significant.									
28492139	KDM5B	Overexpression	Osteosarcoma	In this study, we found that the expression levels of JARID1B in osteosarcoma tissues were significantly higher than those in corresponding noncancerous bone tissues.							Cyclin D1	Regulation	We further demonstrated that JARID1B regulates Cyclin D1 expression through H3K27me3.
28398479	KDM5B	Overexpression	Prostate Carcinoma	Higher KDM5B expression was observed in samples with methylated mir-155 or mir-137 promoters, whereas upregulation of KDM1A and DNMT1 was associated with mir-155 and mir-152 methylation status, respectively.									
27480251	KDM5B	Overexpression	Esophageal Squamous Cell Carcinoma	We detected the expression of miR-194 and KDM5B by quantitative real-time reverse transcription PCR (qRT-PCR) and Western blot assays, respectively, and found down-regulation of miR-194 and up-regulation of KDM5B existed in esophageal squamous cell carcinoma cell lines.	miR-194	Negative regulation	We detected the expression of miR-194 and KDM5B by quantitative real-time reverse transcription PCR (qRT-PCR) and Western blot assays, respectively, and found down-regulation of miR-194 and up-regulation of KDM5B existed in esophageal squamous cell carcinoma cell lines. miR-194 was further verified to regulate proliferation, apoptosis and invasion of esophageal squamous cell carcinoma cells by directly targeting KDM5B. 						
28634400	KAT5	Overexpression	Nasopharyngeal Carcinoma	In this study, we found that the chemoresistant nasopharyngeal carcinoma cells, derived from chronic treatment of cisplatin, show elevated expression of TIP60.									
28418886	KAT2B	Loss of Expression	Colon Carcinoma	Finally we identified loss of PCAF expression in tumor samples and showed that forced expression of PCAF in colon cancer cell lines restored CXCL12 expression.							CXCL12	Negative regulation	Thus, reduced PCAF expression may participate to CXCL12 promoter hypoacetylation and its subsequent loss of expression.
28053092	KAT2B	Overexpression	acute promyelocyticLeukemia	We found that PCAF expression was markedly increased in leukemia cell lines (NB4 and HL-60) and primary APL cells during ATRA-induced granulocytic differentiation.	ATRA	Positive regulation	These results strongly support our hypothesis that PCAF is induced and activated by ATRA, and the subsequent acetylation of PCAF substrates promotes granulocytic differentiation in leukemia cells.				CD11b	Positive regulation	Conversely, the overexpression of PCAF induced the expression of the granulocytic differentiation marker CD11b at the mRNA level.
28042499	KAT2B	Underexpression	Gastric Carcinoma	We showed that both PCAF mRNA and protein were downregulated in GC cells, and that this downregulation correlated with poor survival.				p16; CDK4	Collaboration	Together these results suggest that PCAF acts as a GC suppressor through a novel PCAF-p16-CDK4 axis.			
27453350	KAT2B	Overexpression	Alveolar rhabdomyosarcoma	The present work shows that the histone acetyltransferase P/CAF (KAT2B) is overexpressed in primary tumours from ARMS patients.							PAX3-FOXO1 	Positive regulation	Interestingly, in fusion-positive ARMS cell lines, P/CAF acetylates and stabilizes PAX3-FOXO1 rather than MyoD, a master regulator of muscle differentiation.
28445934	JARID2	Overexpression	Bladder Carcinoma	Conversely, ectopic overexpression of Jarid2 promoted the invasive ability and sphere-forming capacity in bladder cancer cells.							p16	Negative regulation	Mechanistically, reduced Jarid2 expression led to the upregulation of p16 and H3K27me3 level at p16 promoter region.
27641964	JARID2	Overexpression	Glioma	Our data indicate that JARID2 is upregulated in human glioma tissues and cell lines.									
27750218	INO80	Overexpression	Cervical Carcinoma	We found that Ino80 was highly expressed in cervical cancer cell lines and tumor samples.									
27641337	INO80	Overexpression	Non-Small Cell Lung Carcinoma	Ino80, the SWI/SNF ATPase in the complex, is highly expressed in NSCLC cells compared with normal lung epithelia cells.									
28575849	ING5	Overexpression	Breast Carcinoma	ING5 expression was higher in breast cancer than normal tissue at both mRNA and protein levels.				Nuclear p53; ER	Negative correlation; positive correlation	Nuclear ING5 expression was negatively correlated with distant metastasis and p53 hypoexpression, while cytoplasmic ING5 expression was positively correlated with tumor size and ER expression.			
28490335	ING5	Underexpression	Breast Carcinoma	We showed that the ING5 protein rather than the mRNA, was significantly downregulated in breast cancer tissues.	miR-24	Negative regulation	Furthermore, we explored the molecular mechanisms accounting for the dysregulation of ING5 in breast cancer cells and identified an oncomiR, miR-24, as a direct upstream regulator of ING5. We revealed that miR-24 had the opposite effects to those of ING5 on breast cancer cells and could accelerate xenografted tumor growth in vivo.						
28086946	ING5	Underexpression	Ovarian Carcinoma	MiR-1307 was over-expressed in chemoresistant ovarian cancer cell line A2780/Taxol, and over-expression or loss of miR-1307 promoted or inhabited chemoresistance. And we also found that the over-expression of miR-1307 promoted proliferation and inhibited apoptosis in ovarian cancer cells. Besides, we demonstrated that ING5 was a direct target of miR-1307 and miR-1307 down-regulated the ING5 expression in ovarian cancer cells.	miR-1307	Negative regulation	Besides, we demonstrated that ING5 was a direct target of miR-1307 and miR-1307 down-regulated the ING5 expression in ovarian cancer cells.						
28618948	PBRM1	Mutation	Clear Cell Renal Cell Carcinoma	While in clear cell renal cell carcinoma, BAP1 mutation was mutually exclusive with PBRM1 mutations, and BAP1-mutant clear cell renal cell carcinomas also showed significantly worse prognosis than PBRM1-mutant clear cell renal cell carcinomas ( p=0.001).				BAP1	Mutual exclusive	While in clear cell renal cell carcinoma, BAP1 mutation was mutually exclusive with PBRM1 mutations, and BAP1-mutant clear cell renal cell carcinomas also showed significantly worse prognosis than PBRM1-mutant clear cell renal cell carcinomas ( p=0.001).			
28419186	PBRM1	Mutation	Blastic Plasmacytoid Dendritic Cell Neoplasm	We report a rare case of CD4- cutaneous blastic plasmacytoid dendritic cell neoplasm (BPDCN) with a novel PBRM1 mutation. PBRM1 mutation seems to be a driver event in this case.									
28394406	PBRM1	Mutation; Loss of Expression	Cholangiocarcinoma	The aim of this study was to determine the timing of PBRM1 mutations in biliary carcinogenesis. We found that PBRM1 loss occurred in approximately 26% of invasive cancers, but PBRM1 expression was retained in all biliary intra-epithelial neoplasia (BilIN) specimens, including 25 intrahepatic BilINs and 19 gallbladder BilINs.									
28327121	PBRM1	Loss of Expression	Clear Cell Renal Cell Carcinoma	Of the 97 patients evaluated, 20 and 57% showed loss of BAP1 and PBRM1 in their primary tumors, respectively.									
28092369	PBRM1	Mutation	Clear Cell Renal Cell Carcinoma	We report here that BAF180 is mutated in H1H2 ccRCC cell lines and tumors, and BAF180 re-expression in H1H2 ccRCC cell lines reduced cell proliferation/survival, indicating that BAF180 has tumor-suppressive role in these cells.				HIF-1; HIF2	Co-activitor	In addition, our data show that BAF180 functions as co-activator for HIF1- and HIF2-mediated transcriptional response, and BAF180's tumor-suppressive and -promoting activity in ccRCC cell lines depends on co-expression of HIF1 and HIF2, respectively.			
27890923	PBRM1	Mutation	Renal Cell Carcinoma	In addition, the advent of next-generation sequencing has led to the identification of several novel genes that are mutated in renal cancer, such as PBRM1, BAP1 and SETD2, which are all involved in histone modification and nucleosome and chromatin remodelling.									
27764136	PBRM1	Loss of Expression	Clear Cell Renal Cell Carcinoma	We found that 49/160 (31%), 81/160 (51%), 23/160 (14%), 24/160 (15%), and 61/160 (38%) of ccRCC showed loss of expression of PBRM1, ARID1A, SETD2, BRG1, and BRM, respectively, and that IHC could successfully detect a high prevalence of ITH.				ARID1A	Association	For instance, ARID1A loss almost always accompanied PBRM1 loss, whereas BRM loss accompanied loss of BRG1, PBRM1 or ARID1A.			
27751729	PBRM1	Mutation	Clear Cell Renal Cell Carcinoma	PBRM1, BAP1, and KDM5C mutations impact outcomes of targeted therapies in metastatic ccRCC patients.									
28401003	PHF8	Overexpression	Gastric Carcinoma	In this report, we show that PHF8 expression is upregulated in GC tissues, and the enhanced PHF8 level indicates a poor prognosis of GC patients.				β-catenin	Binding	Mechanistically, PHF8 interacts with β-catenin, and binds to the promoter region of vimentin, leading to the promotion of vimentin transcription	Vimentin	Positive regulation	Mechanistically, PHF8 interacts with β-catenin, and binds to the promoter region of vimentin, leading to the promotion of vimentin transcription
27991916	PHF8	Overexpression	Prostate Carcinoma	Importantly, we observed that PHF8 is highly expressed in clinical androgen deprived prostate cancer samples and expression of PHF8 correlates with increased levels of HIF1α and HIF2α.				HIF1α; HIF2α	Positive correlation	Importantly, we observed that PHF8 is highly expressed in clinical androgen deprived prostate cancer samples and expression of PHF8 correlates with increased levels of HIF1α and HIF2α.	AR	Positive regulation	The elevated PHF8 in turn promotes the AR signaling pathway and prostate cancer progression.
28570554	MTA1	Overexpression	Digestive tract cancer	MTA1 overexpression was strongly associated with depth of invasion (OR = 1.88, 95%CI: 1.05-3.37, P = 0.03), lymph node metastasis (OR = 2.30, 95%CI: 1.76-3.01, P<0.001), vascular invasion (OR = 2.02, 95%CI: 1.40-2.91, P<0.001) and TNM stage (OR = 2.78, 95%CI: 1.63-4.74, P<0.001), and was related to 1- (RR = 1.84, 95%CI: 1.18-2.89, P = 0.008), 3- (RR = 1.74, 95%CI: 1.32-2.30, P<0.001) and 5-year (RR = 1.64, 95%CI: 1.18-2.27, P = 0.003) OS.									
28506766	MTA1	Overexpression	Prostate Carcinoma	Positive expression rate of MTA1 was upregulated in PC tissues, and expression of miR-183 and MTA1 was associated with differentiation, migration, tumor size, TNM.	miR-183	Negative regulation	Our study supported that miR-183 could repress EMT and invasion of human PC cells through inhibition of MTA1 expression.						
28418915	MTA1	Overexpression	Non-Small Cell Lung Carcinoma	Compared with normal lung tissues, MTA1 expression was elevated in NSCLC patient tissues and was correlated with American Joint Committee on Cancer stage, T stage, lymphatic metastasis, and patient overall survival.							E-cadherin; Claudin-1; ZO-1; Vimentin; AKT/GSK3β/β-catenin signaling. 	Negative regulation; negative regulation; negative reegulation; positive regulation; positive regulation	MTA1 overexpression decreased E-cadherin, Claudin-1, and ZO-1 levels and increased Vimentin expression in vitro and in vivo, through activation of AKT/GSK3β/β-catenin signaling.
28393842	MTA1	Overexpression	Breast Carcinoma	In addition, MTA1 overexpression correlates well with low levels of DNMT3a which, in turn also correlates with a high IGFBP3 status in breast cancer patients and predicts a poor clinical outcome for breast cancer patients.				HDAC1/YY1 transcriptor factor complex	Collaboration	We discovered that MTA1 represses DNMT3a expression via HDAC1/YY1 transcription factor complex.	DNMT3a; IGFBP3	Negative regulation; positive regulation	In addition, MTA1 overexpression correlates well with low levels of DNMT3a which, in turn also correlates with a high IGFBP3 status in breast cancer patients and predicts a poor clinical outcome for breast cancer patients. We discovered that MTA1 represses DNMT3a expression via HDAC1/YY1 transcription factor complex. These findings suggest that MTA1 could regulate the expression of IGFBP3 in both DNMT3a-dependent and -independent manner.
28423353	PRDM14	Overexpression	Breast Carcinoma	PRDM14 expression was markedly increased in many different cancer types and correlated with poor survival of breast cancer patients.									
28650468	DUSP1	Overexpression	Cisplatin-resistant Ovarian Carcinoma	Furthermore, we showed that acquired cisplatin-resistant ovarian cancer cells expressed high levels of MKP-1 and PARP-1 proteins, and that silencing MKP-1 or PARP-1 increased cisplatin sensitivity in resistant cells.									
28220843	DUSP1	Hypermethylation	Triple-Negative Breast Carcinoma	DUSP1 methylation was significantly associated with ER/PR-negative status; in particular, triple-negative breast cancer patients showed the highest frequency of DUSP1 methylation in both tumour DNA and PBL DNA.									
27599524	DUSP1	Overexpression	Breast Carcinoma	We detected that MKP-1 overexpression is a recurrent event predominantly linked to dephosphorylation of JNK1/2 with an adverse impact on relapse of the tumor and overall and disease-free survival.				dephosphorylation of JNK1/2	Association	We detected that MKP-1 overexpression is a recurrent event predominantly linked to dephosphorylation of JNK1/2 with an adverse impact on relapse of the tumor and overall and disease-free survival.			
28631637	IKZF1	Copy Number change	B cell acute lymphoblastic Lymphoma	Copy number alterations (CNA) have been described in childhood precursor B-lineage acute lymphoblastic leukemia (B-ALL) which in conjunction with chromosomal abnormalities drive leukemogenesis. The most common abnormalities were seen in CDKN2A/B (25.7%) followed by PAX5(20%), ETV6(16.7%), IKZF1(15.5%), Rb1(5.3%), BTG (3.3%), EBF1(2.0%), and PAR1(0.8%).									
28401483	IKZF1	Copy Number Loss	B cell acute lymphoblastic Lymphoma	Frequent genes deletions included CDNK2A/B (26%), IKZF1 (25%), PAX5 (14%), JAK2 (7%), BTG1 (6%), RB1 (5%), EBF1 (4%), ETV6 (4%), while PAR1 region genes were predominantly duplicated (20%).									
28401483	IKZF1	Copy Number Loss	B cell acute lymphoblastic Lymphoma	We examined gene copy number abnormalities (CNA) in 101 Indian HR B cell ALL patients and their correlation with clinicopathological features by multiplex ligation-dependent probe amplification. IKZF1 haploinsufficiency group was predominant, especially in adults (65%), high WCC (60%) patients and BCR-ABL1-negative (78%) patients.				ETV6; CDNK2A/B; PAX5; BTG1	Mutual exclusive; association; assoication; association	Most cases harbored multiple concurrent CNA, with IKZF1 concomitantly occurring with CDNK2A/B, PAX5 and BTG1, while JAK2 occurred with CDNK2A/B and PAX5. Mutually exclusive CNA included ETV6 and IKZF1/RB1, and EBF1 and JAK2.			
28214896	IKZF1	Copy Number Loss	B Acute Lymphoblastic Leukemia	In our cohort of B-ALL patients, alterations of IKZF1, PAX5, and CDKN2A/B were detected by aCGH analysis in 43, 52, and 57% of samples, respectively. Deletions of IKZF1 were present in 9 samples, including 5 cases positive for both PAX5 and IKZF1 deletions, implying digenic impairment.				BCR-ABL1; PAX5; CDKN2A/B; FLT3 	Association	Furthermore, all cases with IKZF1 deletions also had additional genomic alterations, including BCR-ABL1 gene fusions, PAX5 deletions, CDKN2A/B deletions, and FLT3 amplification.			
28202519	IKZF1	Copy Number Loss	Acute Lymphoblastic Leukemia	Somatic copy number of 8 genes frequently deleted in ALL (CDKN2A, ETV6, IKZF1, PAX5, RB1, BTG1, PAR1 region, and EBF1) was assessed in 559 pretreatment tumor samples from the California Childhood Leukemia Study.									
28193567	IKZF1	Copy Number Loss	B Acute Lymphoblastic Leukemia	As B-cell developmental genes play a crucial role in this leukemia, we assessed such for recurrent deletions in diagnostic and relapse samples. We confirmed previous findings that the most prevalent deletions of these genes occur in CDKN2A, IKZF1, and PAX5, with several others at lower frequencies.									
28191591	IKZF1	Mutation; copy number loss	blastic PDC neoplasm	The frequent nature of deleterious mutations of IKZF3 and deletions of IKZF1 suggests a role for the Ikaros family proteins in BPDCN.									
28052520	IKZF1	Overexpression	Multiple Myeloma	Interestingly, IKZF1 expression was elevated in BM environmental cells and thus selected for further investigation by multicolor flow cytometry. High IKAROS protein levels in total BM mononuclear cells (median OS 83.4 vs. 32.2 months, P=.02), CD19+B cells (median OS 71.1 vs. 32.2 months, P=.05), CD3+CD8+T cells (median OS 83.4 vs 19.0 months, P=.008) as well as monocytes (median OS 53.9 vs 18.0 months, P=.009) were associated with superior overall survival (OS).									
28033648	IKZF1	Copy Number change	B Acute Lymphoblastic Leukemia	Copy number alteration (CNA) profiles were similar to B-other ALL, although CRLF2-r patients harbored higher frequencies of IKZF1 (60/138, 43% vs. 77/1351, 24%) and BTG1 deletions (20/138, 15% vs. 3/1351, 1%).									
27957801	IKZF1	Copy Number Loss	B Lymphoblastic Lymphoma	IKZF1 and PAX5 deletions were observed in 13 and 17% of B-LBL, respectively, which was similar to the reported frequency in B-ALL.									
27815723	IKZF1	Copy Number Loss	B Lymphoblastic Lymphoma	Our meta-analysis suggests that IKZF1 deletion is a poor prognostic factor for adults with B cell ALL and may be more valuable in BCR-ABL1-negative B cell ALL patients.									
28675510	PRDM1	Underexpression	Colorectal Carcinoma	Ten TSGs were up-regulated (FAM123B, RB1, TP53, RUNX1, MSH2, BRCA1, BRCA2, SOX9, NPM1, and RNF43); six TSGs were down-regulated (PAX5, IZKF1, GATA3, PRDM1, TET2, and CYLD); four were associated with MSI tumors (MLH1, PTCH1, and CEBPA down-regulated and MSH6 up-regulated); and two were associated with MSS tumors (PHF6 and ASXL1 up-regulated).									
28479318	PRDM1	Copy Number Loss	Diffuse Large B-Cell Lymphoma Leg type	The most frequent genetic losses involved CDKN2A/2B, TNFAIP3/A20, PRDM1, TCF3 and CIITA.									
28442738	PRDM1	Overexpression	Breast Carcinoma	Indeed, high Blimp1 expression levels are detected in invasive p130Cas/ErbB2 cells and correlate with metastatic status in human breast cancer patients.	MAPK; miR-23b	Positive regulation; negative regulation	The present study, by using 2D and 3D breast cancer models, shows that the increased Blimp1 expression depends on both MAPK activation and miR-23b downmodulation.						
28378641	PRDM1	Underexpression	Lung Carcinoma	Here, we found that PRDM1 is expressed in normal human lung epithelium but is downregulated in lung cancer cells.							Aiolos	Negative regulation	PRDM1 is silenced by an ectopically expressed lymphocyte-specific transcription factor Aiolos.
28056297	PRDM1	Hypermethylation	Diffuse Large B-Cell Lymphoma	PRDM1 gene methylation was detected in 23% (23/100) of DLBCL, while no methylation was detected in all 20 reactive lymphoid proliferation.									
27687004	PRDM1	Mutation	Plasmablastic Lymphoma	Furthermore, we demonstrate that recurrent somatic mutations in PRDM1 are found in 50% of plasmablastic lymphoma cases (8 of 16 cases evaluated).				MYC	coexpression	In conclusion, aberrant coexpression of MYC and PRDM1/Blimp1α owing to genetic changes is responsible for the phenotype of plasmablastic lymphoma cases.			
27568520	PRDM1	copy number loss; Mutation	Diffuse Large B-Cell Lymphoma	In addition, homozygous PRDM1 deletions and PRDM1 mutations within exons 1 and 2, which encode for domains crucial for transcriptional repression, were found to show a poor prognostic impact in patients with ABC-DLBCL but not in those with germinal center B-cell-like DLBCL (GCB-DLBCL).				Myc; p53	Positive correlation; negative correlation	In these patients, loss of BLIMP-1 was associated with Myc overexpression and decreased expression of p53 pathway molecules.			
28591716	PRMT5	Overexpression	Pancreatic Ductal Adenocarcinoma; Colorectal Carcinoma	Here, we show that PRMT5 is highly expressed in PDAC and CRC.	PR5-LL-CM01 	Negative regulation	An in silico structure prediction suggested that PR5-LL-CM01 inhibits PRMT5 by binding with its active pocket.						
28107179	PRMT5	Overexpression	Oropharyngeal Squamous Cell Carcinoma	Nuclear PRMT5 expression was inversely correlated with p16-status (p < 0.001) and was significantly higher in tumor samples from patients who smoked > 10 pack-years (p = 0.013).	IL-6	Regulation	Our mechanistic results suggest that IL-6 promotes nuclear translocation of PRMT5.	p16	Negative correlation	Nuclear PRMT5 expression was inversely correlated with p16-status (p < 0.001) and was significantly higher in tumor samples from patients who smoked > 10 pack-years (p = 0.013). Our mechanistic results suggest that IL-6 promotes nuclear translocation of PRMT5.			
28101581	PRMT5	Overexpression	Hepatocellular Carcinoma	Although the level of PRMT5 mRNA was not influenced by patient's background liver status, it was significantly higher in HCC tissues than in the corresponding noncancerous tissues.				CDK4	Binding	Mechanistically, glucose promotes the interaction between PRMT5 and CDK4, which leads to activation of CDK4-RB-E2F-mediated transcription via releasing CDKN2A from CDK4.			
27708221	PRMT5	Overexpression	Hepatocellular Carcinoma	Upregulation of both PRMT5 and CDK4 predicts more malignant characteristics in human HCC tissues.									
27546619	PRMT5	Overexpression	Prostate Carcinoma	Furthermore, PRMT5 expression in prostate cancer tissues is significantly higher than that in benign prostatic hyperplasia tissues, and PRMT5 expression correlates positively with AR expression at both the protein and mRNA levels.				Sp1; Brg1	Binding	Mechanistically, PRMT5 is recruited to the AR promoter by its interaction with Sp1, the major transcription factor responsible for AR transcription, and forms a complex with Brg1, an ATP-dependent chromatin remodeler, on the proximal promoter region of the AR gene.	AR	Positive regulation	Knockdown of PRMT5 or inhibition of PRMT5 by a specific inhibitor reduces the expression of AR and suppresses the growth of multiple AR-positive, but not AR-negative, prostate cancer cells.
28534991	SETD8	Overexpression	Cervical Carcinoma	Furthermore, SET8 was also increased in cervical cancer tissues and its expression was positively associated with XLOC_006390, and XLOC_006390 regulated SET8 expression.	XLOC_006390	regulation	Furthermore, SET8 was also increased in cervical cancer tissues and its expression was positively associated with XLOC_006390, and XLOC_006390 regulated SET8 expression.						
28582846	SIRT4	Underexpression	Endometrioid Adenocarcinoma	SIRT4 protein levels in endometrioid adenocarcinoma were markedly lower than its non-neoplastic tissue counterpart (P< 0.001).									
27941873	SIRT4	Underexpression	Non-Small Cell Lung Carcinoma	We demonstrated that SIRT4 was decreased in 70 out of 133 non-small cell lung cancer (NSCLC) cases by immunohistochemical staining and localized in the mitochondria using confocal microscopy.				Fis-1	Binding	SIRT4 inhibited Drp1 phosphorylation and weakened Drp1 recruitment to the mitochondrial membrane via an interaction with Fis-1.	Drp1; MEK/ERK	Regulation; negative regulation	SIRT4 inhibited Drp1 phosphorylation and weakened Drp1 recruitment to the mitochondrial membrane via an interaction with Fis-1. SIRT4 expression was lower in nodal metastatic tumor samples than their corresponding primary tumors, and cases with low expression of SIRT4 tended to have high p-Drp1 labeling. Also, MEK/ERK activity appeared to be hampered by SIRT4 expression, which may have implications for cells' invasive capacities.
28467809	UHRF1	Overexpression	Retinoblastoma	In this study, we show that UHRF1 is highly expressed in retinoblastoma, and genomes of human primary retinoblastoma and cell lines have differential DNA methylation patterns compared with those of normal retina, characterized by lower global methylation and higher promoter methylation of tumor suppressors.									
26695082	UHRF1	Overexpression	Lung Carcinoma	This study attempts to identify differentially expressed genes (DEGs) related to lung adenocarcinoma in Xuanwei. The tendency of changes in the expression of 12 selected DEGs (five downregulated genes, PIK3R1, RARB, HGF, MAPK11, and SESN1, and seven upregulated genes, PAK1, E2F1, CCNE1, EGF, CDC25A, PTTG1, and UHRF1) in RTq-PCR was consistent with the expression profiling data.									
28514749	SIRT2	SNP	Colorectal Carcinoma	Through a systematic interrogate of variants in the functional region of SIRT2 gene, we identified rs2015 was significantly associated with CRC susceptibility, providing new insights into the carcinogenesis of CRC.									
28259910	SIRT2	Underexpression	Ovarian Carcinoma	It was observed that SIRT2 expression in SOC was significantly downregulated when compared with ovarian surface epithelium via western blot and immunohistochemistry.									
28166441	SIRT2	Overexpression	Melanoma	Employing a tissue microarray containing benign nevi, primary melanomas, and lymph node metastases, we have found that the tissue from lymph node metastases appears to have a significant upregulation of SIRT2 relative to primary tumors across the nuclear, cytoplasmic, and whole cell data.									
28088387	SIRT2	Underexpression	Colorectal Carcinoma	The results demonstrated that SIRT2 is downregulated in CRC biopsy samples (n=31) compared with the adjacent non-cancerous tissues (ANCT, n=26).							phospho-ERK	Negative regulation	The antitumor effects of shikonin on CRC seem to be mediated by SIRT2 upregulation via phospho-ERK inhibition.
28073696	SIRT2	Overexpression	Non-Small Cell Lung Carcinoma	We also found that the levels of SPOP significantly decreased, while the levels of SIRT2 significantly increased in non-small cell lung cancer (NSCLC) cell lines, compared to normal bronchial epithelial cell line and NSCLC specimens, compared to the paired non-tumor lung tissue.	SPOP	Negative regulation	Notably, mutations in NSCLC inhibit the abilities of SPOP to degrade SIRT2 and suppress NSCLC cell growth.						
27783945	SIRT2	Copy Number Gain; Overexpression	Breast Carcinoma	Interestingly, SIRT2 is frequently amplified and highly expressed in BLBC.							Slug	Positive regulation	SIRT2 inhibition rapidly destabilizes Slug, whereas SIRT2 overexpression extends Slug stability.
28602977	SMARCA2	Overexpression	Pancreatic Carcinoma	High BRM expression was correlated with worse survival of pancreatic cancer patients.							JAK2/STAT3	Positive regulation	We reveal a novel mechanism by which BRM could activate JAK2/STAT3 pathway to promote pancreatic cancer growth and chemoresistance.
28296015	SMARCA2	Mutation	Hepatocellular Carcinoma	Specific patterns of gene mutations including CTNNB1, TERT, ARID1A and SMARCA2 exist in alcohol-related HCC.									
28038711	SMARCA2	Loss of Expression	Non-Small Cell Lung Carcinoma	In conclusion, SMARCA4 and SMARCA2 deficiency is observed in 5.1% and 4.8% of NSCLC, respectively.									
27784745	SMARCA2	Mutation	Acute Myeloid Leukemia	Novel recurrent mutational events in AML were identified in the SMARCA2 gene.									
27656868	SMARCA2	Loss of Expression	Endometrial Carcinoma	Our study demonstrated that almost one-third of endometrial undifferentiated carcinomas show loss of SMARCA4 and SMARCA2 expression, and that a subset show rhabdoid morphology.									
28560068	SIRT3	Underexpression; Mutation	Breast Carcinoma	We demonstrated that HDAC2 and SIRT7 were the most commonly amplified/overexpressed, and SIRT3 was most deleted/underexpressed, particularly in aggressive basal-like breast cancer.									
28347248	SIRT3	Underexpression	Hepatocellular Carcinoma	The results demonstrated that the expression levels of SIRT3 protein in hepatocellular carcinoma tissues were significantly downregulated compared with those in adjacent non-cancerous tissues.									
28197634	SIRT3	Overexpression	Non-Small Cell Lung Carcinoma	Levels of SIRT3 protein and mRNA were significantly increased in NSCLC tissue, compared with normal tissue (P<0.05).				Ki-67; p-Akt	Positive correlation	Expression of SIRT3 in NSCLC positively correlated with that of malignant biomarker Ki-67 (P<0.05) and oncogene p-Akt (P<0.05).			
27420645	SIRT3	Overexpression	Breast Carcinoma	Finally, survival curves showed that higher SIRT3 expression is correlated to a poorer prognosis for patients with grade 3 breast cancer.							PGC-1α; TFAM; MnSOD  ; IDH2	Regulation	SIRT3 knockdown also affected PGC-1α and TFAM (mitochondrial biogenesis), and MnSOD and IDH2 (antioxidant defenses) protein levels.
28677734	SET	Overexpression	Gastric Carcinoma	Taken together, our results suggested that SET overexpression is associated with GC progression, and it might be a potential diagnostic marker for GC, thereby a possible target for GC drug development.									
27517624	SET	Overexpression	Colorectal Carcinoma	We show here miR-199b downregulation in 4 out of 5 CRC SET-overexpressing cell lines and its inverse correlation with SET overexpression in CRC patients.	miR-199b	Negative regulation	Altogether, our results show that miR-199b is a tumor suppressor whose downregulation independently determines worse outcome and emerges as a potential contributing mechanism to inhibit PP2A via SET overexpression in a subgroup of mCRC patients.						
28529614	MUM1	altered expression	Peripheral T-cell Lymphoma	Although IRF4/MUM1 expression is associated with aggressiveness of B-cell lymphoma and multiple myeloma, the prognostic value of IRF4/MUM1 expression in peripheral T-cell lymphoma (PTCL) is unclear. Samples were classified by IRF4/MUM1 expression into a negative group (less than 5% of all tumor cells staining positive) or a positive group (�?5% of all tumor cells staining positive). IRF4/MUM1 expression was associated with poor survival outcomes in PTCL, implying that this gene is a potential therapeutic target.									
28056299	MUM1	Overexpression	Diffuse Large B-Cell Lymphoma; Follicular Lymphoma; burkitt Lymphoma	A panel of immunomarkers including GCET2, CD10, bcl-6, MUM1, GCET1, FOXP1, Ki-67 and CMYC was evaluated in 81 cases of DLBCLs, 5 cases of follicular lymphomas (FL) and 2 cases of Burkitt's lymphomas.									
28704539	PCNA	Overexpression	Colon Carcinoma	In addition, we observed increased level of β-catenin, c-Myc and PCNA in colon cancer cells following incubation with Sg.									
28682441	PCNA	Overexpression	Cervical Carcinoma	The levels of expression of p53, PCNA, and Ki-67 in the cervical cancer group were higher, while the levels of TIPE2 were lower compared with the other two groups (p < 0.05).									
28611525	PCNA	Overexpression	Gastric Carcinoma	The PCNA labeling index was significantly higher and the E-cadherin labeling index was significantly lower in gastric cancer than in dysplasia (P< 0.05). The expression of PCNA was significantly higher in the gastric cancer group than in the normal group, but E-cadherin was weaker (P< 0.05).				E-cadherin	Negative correlation	There was a negative correlation between the expression of PCNA and E-cadherin in gastric carcinoma (r = -0.741, P = 0.000).			
27651027	PCNA	Overexpression	Ovarian Carcinoma	Expressions of TAB3 and PCNA (proliferating cell nuclear antigen) were found to be gradually increased in EOC tissues and cell lines, by western blot analysis and qRT-PCR.									
26558632	PCNA	altered expression	Cervical Carcinoma; Glioma Carcinoma	In the present study, the PCNA expression in cervical cancer and gliomas patients was both correlated with 5-year-overall survival (OS) (HR=4.41, 95% CI 2.71-7.17, p=0.000; HR=4.40, 95% CI 3.00-6.47, p=0.000; respectively).									
27586268	PCNA	Underexpression	Esophageal Squamous Cell Carcinoma	Western blotting and immunohistochemistry revealed the down-regulation of Bcl-2 and PCNA and the up-regulation of Bax and caspase-3 in tumor tissues. 									
28475402	TP53BP1	Underexpression	Breast Carcinoma	Tumors with worse prognosis (tumor grade 3 and triple negative) showed reduced expression of tBRCT genes, notably, PAXIP1 and TP53BP1.									
28442502	TP53BP1	Overexpression	Plasma Cell Myeloma	Immunoblot and qRT-PCR analysis confirmed that γ-H2A.X, ATM, ATR, Chk1, Chk2, RAD51, 53BP1, BRCA1, and BRCA2 were upregulated/activated.									
28082821	TP53BP1	Mutation	Colorectal Carcinoma	Additional genetic analyses revealed a frameshift truncating mutation of the TP53BP1 gene in the patient who progressed.									
28502558	HDAC1	Overexpression	Gastric Carcinoma	The present study detected metastasis-associated protein 2 (MTA2) and Histone deacetylases 1 (HDAC1) proteins that were overexpressed in gastric cancer tissues compared with that in adjacent gastric tissue.				MTA2	Positive correlation	The co-expression of MTA2 and HDAC1 in gastric cancer achieved 65.3% sensitivity (95% CI: 51.5%-79.1%) and 65.2% specificity (95% CI: 50.9%-79.5%), which was strongly associated with lymph node metastasis and TNM staging.			
28429280	HDAC1	Overexpression	Medulloblastoma	We found that in HDAC1 and DNMT1 overexpressing medulloblastoma-derived cells, cell death was induced under various epigenetic drug conditions tested.									
28424407	HDAC1	Overexpression	Colorectal Carcinoma; Gastric Carcinoma	We found that the expression level of HDAC1 in gastrointestinal malignancies, especially in colorectal cancer (OR = 10.84, 95% CI = 5.33-22.07, P< 0.00001), was higher than that in noncancerous tissue, and HDAC1 expression was closely associated with some clinical features of gastrointestinal cancer patients, such as tumor stage (OR = 1.62, 95% CI = 1.28-2.05, P < 0.0001) and tumor grade (OR = 1.75, 95% CI = 1.03-2.95, P = 0.04). In addition, we also found that patients with low HDAC1 expression showed better overall survival than those with high HDAC1 expression in gastrointestinal malignancy, especially in gastric cancer (HR = 1.88, 95% CI = 1.14-3.12, P = 0.01).									
28262837	HDAC1	Overexpression	Hepatocellular Carcinoma	Low expression of FBP1 correlated with high levels of histone deacetylase 1 (HDAC1) and HDAC2 proteins in HCC patient tissues.				FBP1	Negative correlation	Low expression of FBP1 correlated with high levels of histone deacetylase 1 (HDAC1) and HDAC2 proteins in HCC patient tissues.			
28260932	HDAC1	Overexpression	Chronic Lymphocytic Leukemia	The level of HDAC1 and HDAC7 mRNA expression was significantly increased (P=0.02 and P=0.008, respectively) and HDAC2 and P300 mRNA expression was reduced in patients with CLL (P=0.002 and P=0.001, respectively).									
23728344	ACTL6A	Overexpression	Rhabdomyosarcoma	Here we show that the BAF53a transcript is significantly higher in primary RMS tumors than in normal muscle, and is a direct target of miR-206.	miR-206	negative regulation	 In this work, we focused on BAF53a, one of the genes downregulated in miR-206-expressing RMS cells, which codes for a subunit of the SWI/SNF chromatin remodeling complex. Here we show that the BAF53a transcript is significantly higher in primary RMS tumors than in normal muscle, and is a direct target of miR-206.						
26698646	ACTL6A	Overexpression	Hepatocellular Carcinoma	A high level of ACTL6A in HCCs is correlated with aggressive clinicopathological features and is an independent poor prognostic factor for overall and disease-free survival of HCC patients.							SOX2; Notch1	positive regulation	Further studies indicate that ACTL6A might manipulate SRY (sex determining region Y)-box 2 (SOX2) expression and then activate Notch1 signaling.  Mechanism studies show that ACTL6A enhances SRY (sex determining region Y)-box 2 (SOX2) expression in HCC, which up-regulates Notch1 expression and triggers Notch signaling in HCC.
24521710	ACTL6B	Hypermethylation	Urothelial Carcinoma	Other chromatin remodeling genes, MLL3 and ACTL6B, also showed aberrant hypermethylation.									
26812616	ACTL6B	Aberrant methylation	Esophageal Squamous Cell Carcinoma	In addition, a BeadChip array analysis revealed that a component of the SWI/SNF complex, ACTL6B, had aberrant methylation at its promoter CpG island in 18 of 52 ESCCs (34.6%).									
22454142	ADNP	Overexpression	Malignant Peripheral Nerve Sheath Tumor	Altogether, these finding provide evidence for the involvement of an endogenous PACAP-mediated ADNP signaling system that increases MPNST cell resistance to H(2)O(2)-induced death upon serum starvation.	PACAP	positive regulation	Treatment with PACAP38 (10(-9) to 10(-5) M) dose-dependently increased ADNP levels in NS but not in SS cells. PAC(1)/VPAC receptor antagonists completely suppressed PACAP-stimulated ADNP increase and partially reduced ADNP expression in SS cells.						
22190018	AEBP2	copy number loss	Myeloid Neoplasm	Subsequently, analysis of deletion profiles of other PRC2 members revealed frequent losses of genes such as EZH2, AEBP2, and SUZ12; however, the deletions targeting these genes were large.				JARID2; ETV6	Codeletion	We also identified two patients with homozygous losses of JARID2 and AEBP2.; We observed frequent codeletion of AEBP2 and ETV6, and similarly, SUZ12 and NF1.			
24905724	ARID1A	loss of expression (mutation)	Ovarian Endometrioid Adenocarcinoma	The loss of BAF250a protein expression is suggestive for the presence of ARID1A mutations, and represents an useful marker of malignant transformation of endometriosis.									
25175170	ARID1A	Overexpression	Urothelial Carcinoma	ARID1A expression significantly increased from normal to noninvasive UC to invasive UC.									
25311944	ARID1A	loss of expression	Colorectal Carcinoma	ARID1A loss was observed in 9% (22/257) of the cohort: 24% of MMR-deficient tumors (14/59, 13 of the 14 being MLH1/PMS2 deficient) and 4% of MMR-normal tumors (8/198) (P < .05).				MMR;  MLH1	association	ARID1A loss was observed in 9% (22/257) of the cohort: 24% of MMR-deficient tumors (14/59, 13 of the 14 being MLH1/PMS2 deficient) and 4% of MMR-normal tumors (8/198) (P < .05). MLH1 (mutL homolog 1) promoter hypermethylation was observed in 10 of the 13 MLH1/PMS2-deficient/ARID1A-loss tumors, indicating an association between ARID1A loss and sporadic microsatellite unstable CRCs.			
25398420	ARID1A	altered expression	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	In pure-type CCAs, expressions of ARID1A and p53 were mutually altered, and altered expression of p53 was associated with worse prognosis than that of ARID1A (P < 0.001).				p53	Mutually altered	In pure-type CCAs, expressions of ARID1A and p53 were mutually altered, and altered expression of p53 was associated with worse prognosis than that of ARID1A (P < 0.001).			
25400081	ARID1A	loss of expression	Small Intestinal Carcinoma	Loss of ARID1A expression is associated with poor prognosis in small intestinal carcinoma.									
25444907	ARID1A	mutation	Non-Small Cell Lung Carcinoma	Other genes with deleterious mutations in �? (13.0%) primary tumors were MLL3, SETD2, ATM, ARID1A, CRIPAK, HGF, BAI3, EP300, KDR, PDGRRA and RUNX1.									
25462860	ARID1A	Mutation	Gastric Carcinoma	Moreover, somatic mutations of additional chromatin remodelers, such as ARID1A, SMARCA2, and SMARCA4, were found in 30% of gastric cancers.									
25536104	ARID1A	genetic aberration	Cholangiocarcinoma	Commonly occurring GAs in intrahepatic CCA were TP53 (35%), KRAS (24%), ARID1A (20%), IDH1 (18%), MCL1 (16%) and PBRM1 (11%).									
25557364	ARID1A	loss of expression (mutation)	Endometrial Carcinoma	Approximately 30% to 40% of endometrial carcinomas harbor mutations in the ARID1A gene, which results in complete loss of ARID1A protein expression.									
25561809	ARID1A	loss of expression	Colorectal Carcinoma	ARID1A loss by immunohistochemistry was not rare in primary colorectal cancer tumors (25.8%).									
25625625	ARID1A	Mutation	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	Ovarian clear-cell carcinoma (OCCC) is an aggressive form of ovarian cancer with high ARID1A mutation rates.				PIK3CA	cooperation	We further show that ARID1A and PIK3CA mutations cooperate to promote tumour growth through sustained IL-6 overproduction.			
25626421	ARID1A	Mutation	Cervical Adenocarcinoma	These data revealed a heterogeneous mutation spectrum and identified several frequently altered genes including FAT1, ARID1A, ERBB2 and PIK3CA.									
25628030	ARID1A	Underexpression	Clear Cell Renal Cell Carcinoma	Decreased ARID1A expression was associated with the higher nuclear grade and higher pTNM stage (P < .001 and P = .013, respectively).									
25648330	ARID1A	loss of expression	Ovarian Endometrioid Adenocarcinoma	The frequencies of ARID1A loss, PTEN loss, MMR deficiency or MSI and aberrant p53 expression were 58%, 37%, 37% and 47% in pure HG tumours, and 77%, 45%, 55% and 32% in HG tumours with concurrent LG components (P = 0.07 for ARID1A; P > 0.1 for other proteins).									
25692284	ARID1A	Mutation	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	ARID1A and PIK3CA mutations appeared consistently in concurrent endometriosis when present in the primary CCC.				PIK3CA	correlation	ARID1A and PIK3CA mutations appeared consistently in concurrent endometriosis when present in the primary CCC.			
25717252	ARID1A	Underexpression	Gastric Adenocarcinoma	Abnormal ARID1A expression, including reduced or loss of ARID1A expression, was observed in 109 cases (22.3%) and was significantly correlated with lymphatic invasion (80.7% vs 69.5%, P=0.022) and lymph node metastasis (83.5% vs 73.7%, P=0.042).									
25744580	ARID1A	loss of expression	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	The loss of ARID1A expression was found in 39 % (44/112) of CCC, and was not associated with patient age, FIGO stage, and status of residual tumor.									
25757668	ARID1A	Underexpression	Esophageal Squamous Cell Carcinoma	Thus, decreased ARID1A immunoreactivity correlated with infiltrative growth of ESCC.							E-cadherin	positive regulation	Decreased expression of ARID1A protein has been reported to decrease the expression of E-cadherin, an adhesion protein.
25776029	ARID1A	Underexpression	Squamous Cell Carcinoma of the Penis	ARID1A expression was observed in all cases, ranging from 3% to 100% of tumor cells (median, 95%).									
25779943	ARID1A	Mutation	Splenic Marginal Zone Lymphoma	We identified recurrent mutations in TP53 (16%), KLF2 (12%), NOTCH2 (10%), TNFAIP3 (7%), MLL2 (11%), MYD88 (7%), and ARID1A (6%), all genes known to be targeted by somatic mutation in SMZL.									
25871622	ARID1A	loss of expression	Ovarian Endometrioid Adenocarcinoma	Thirteen of 64 (20%) CCCs, 6/34 (18%) EC-CCs, and 2/34 (6%) ECs showed loss of BAF250a.									
25882375	ARID1A	genetic aberration	Gastric Carcinoma	Overall, 78% of GC cases harbored one clinically relevant GA or more, with the most frequent alterations being found in TP53 (50%), ARID1A (24%), KRAS (16%), CDH1 (15%), CDKN2A (14%), CCND1 (9.5%), ERBB2 (8.5%), PIK3CA (8.6%), MLL2 (6.9%), FGFR2 (6.0%), and MET (6.0%).									
25912412	ARID1A	loss of expression	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	Loss of BAF250a expression was seen in 13 (22%) of 59 endometrioid cancers, 17 (47%) of 36 clear cell cases, 8 (44%) of 18 contiguous endometriosis cases, and 3 (8%) of 66 benign endometriotic ovarian cysts.									
25963524	ARID1A	Underexpression	Meningioma	Notably, in the higher grade regions we found increased aneuploidy with progressive loss of heterozygosity, the emergence of mutations in the TERT promoter, and compromise of ARID1A.									
25975202	ARID1A	Underexpression	Hepatocellular Carcinoma	ARID1A mRNA and protein expression were significantly decreased in HCC tissues, and decreased expression was significantly associated with overall metastasis, including local lymph node and distant metastasis, and poor prognosis.				E-cadherin	Correlation	E-cadherin levels were closely correlated with ARID1A expression, suggesting a role in migration and invasion.			
26043110	ARID1A	alteration	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	Coexistent alterations of PIK3CA and ARID1A were more common in CCC-1 and CCC-3 (7/11, 64%) than in CCC-2 (0/10, 0%; P < 0.01).				PIK3CA 	Coexistent alterations	Coexistent alterations of PIK3CA and ARID1A were more common in CCC-1 and CCC-3 (7/11, 64%) than in CCC-2 (0/10, 0%; P < 0.01).			
26045782	ARID1A	Underexpression	Hepatocellular Carcinoma	In the evaluation of tissue microarrays, cases of ARID1A alteration (63 total cases, 21.7%) consisted of 11 (3.8%) cases showing loss of expression and 52 (17.9%) with weak expression.							p53; beta-catenin 	negative regulation	Altered expression of ARID1A was inversely correlated with nuclear expression of p53 (P=0.018) or beta-catenin (P=0.025).
26067140	ARID1A	loss of expression	Gastric Carcinoma	Loss of ARID1A expression was observed in 21.1% of GC (88/417), but was not observed in gastric adenoma tissues or non-neoplastic gastric mucosa tissues.									
26138514	ARID1A	genetic aberration	Urothelial Carcinoma	The Cancer Genome Atlas (TCGA) study revealed that there are numerous genomic aberrations in muscle-invasive urothelial carcinoma, such as TP53, ARID1A, PIK3CA, ERCC2, FGFR3, and HER2.									
26303865	ARID1A	Underexpression	Cervical Adenosquamous Carcinoma	Lower levels of the ARID1A expression were detected in cases with adenosquamous carcinomas (60%), low- or high-grade squamous intraepithelial lesion (SIL) (31%), and squamous cell carcinomas (18.5%).									
26336887	ARID1A	Mutation	Mesonephric Neoplasm	Mutations in chromatin remodeling genes (ARID1A, ARID1B, or SMARCA4) were present in 62% of mesonephric carcinomas.									
26345631	ARID1A	loss of expression	Non-Small Cell Lung Carcinoma	The loss of the expression of ARID1A, ARID1B, and BAF47 was observed only in a fraction of NSCLC cases.									
26400522	ARID1A	Underexpression	Gastric Carcinoma	ARID1A was down-regulated in gastric cancer, and associated poor patient prognosis.	SCF E3 ligase	regulation	Thus, our data uncovered a previous unknown posttranscriptional regulation of ARID1A by SCF E3 ligase in gastric cancer cells in DNA damage response.						
26403563	ARID1A	Mutation	Ovarian Carcinoma	The tumor suppression gene, ARID1A, is frequently disrupted in EAOC. The ARID1A mutation has been reported in preneoplastic lesions and may be an early marker in the transformation of endometriosis into cancer. 									
26468418	ARID1A	loss of expression	Gastric Carcinoma	Loss of ARID1A expression was observed in 62 cases (32.5%).									
26468873	ARID1A	Mutation	Endemic Burkitt Lymphoma	Third, by comparing the eBL mutational landscape with published data on sporadic Burkitt lymphoma (sBL), we detected lower frequencies of mutations in MYC, ID3, TCF3 and TP53, and a higher frequency of mutation in ARID1A in eBL samples. 									
26637902	ARID1A	Underexpression	Gastric Carcinoma	Low expression rates of ARID1A, 1B, and 2 in gastric carcinoma were 20%, 10%, and 15% respectively.									
26643872	ARID1A	copy number loss	Liposarcoma	Notable deletions were found at chromosome 1p (RUNX3, ARID1A), chromosome 11q (ATM, CHEK1) and chromosome 13q14.2 (MIR15A, MIR16-1).									
26676821	ARID1A	mutation	Hepatocellular Carcinoma	Precision genomic analysis of this tumor disclosed five alterations with amplifications of genes CCNE1, FGF3 and FGF4, MYCL1, and ARID1A. The roles of these gene mutations and their potential effects in carcinogenesis in this case are discussed.									
26717940	ARID1A	Mutation	Cholangiocarcinoma	The most frequently mutated genes in EH-PCC were KRAS (47.4 %), TP53 (23.7 %) and ARID1A (15.8 %); in IH-PCC were KRAS (22.2 %), PBRM1 (16.7 %), and PIK3CA (16.7 %); and in ICC were IDH1 (17.1 %), NRAS (17.1 %), and BAP1 (14.3 %).									
26770240	ARID1A	Underexpression	Breast Carcinoma	Low expression of ARID1A is an independent prognostic factor for disease-free and overall survival in breast cancer patients and may be associated with luminal A type disease.				Ki-67; p53	correlation	Low expression of ARID1A significantly correlated with positive lymph node metastasis (p=0.027), advanced pathologic stage (p=0.001), low Ki-67 labeling index (p=0.003), and negative p53 expression (p=0.017).			
26899600	ARID1A	Mutation	Breast Carcinoma	For breast cancer, we identified a significant MEGS consisting of TP53 and four infrequently mutated genes (ARID1A, AKT1, MED23, and TBL1XR1), providing support for their role as cancer drivers.									
26904685	ARID1A	Underexpression	Breast Carcinoma	Inactivated mutations and decreased expression of ARID1A gene have been reported in several kinds of cancer.				 HIST2H2BE	Coexpress	All cases with ARID1A expression are overlapped with H2B high expression.			
26945423	ARID1A	loss of expression 	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	HNF-1β was expressed in 92.8% of all primary ovarian tumors, while the loss of ARID1A and PIK3CA was noted in 56.2% and 45.0%, respectively.									
27051059	ARID1A	Mutation	Ovarian Endometrioid Adenocarcinoma	ARID1A encodes a nuclear protein (BAF250a) governing chromatin remodeling, and mutations in ARID1A have been found in 30% to 50% of clear cell and endometrioid ovarian cancers.									
27063598	ARID1A	mutation (loss of function)	Typical Acute Promyelocytic Leukemia	Our sequencing data also demonstrates incidence of loss-of-function mutations in previously unidentified genes, ARID1B and ARID1A, both of which encode for key components of the SWI/SNF complex.									
27102345	ARID1A	mutation (loss of function)	Non-Hodgkin Lymphoma	Prioritized alterations in epigenetic modulators were common and included gain-of-function EZH2 and loss-of-function ARID1A mutations (14% of diffuse large B-cell lymphomas and 22% of follicular lymphomas contained alterations in each of these two genes).									
27172896	ARID1A	mutation	Breast Carcinoma	Our findings provide a rationale for why tumors accumulate ARID1A mutations and identify high ANXA1 expression as a predictive biomarker for trastuzumab-based treatment.							ANXA1	negative regulation	We demonstrate that ARID1A loss activates annexin A1 (ANXA1) expression, which is required for drug resistance through its activation of AKT.
27280691	ARID1A	genetic aberration	Animal Mammary Neoplasms	Human cancer genome studies have identified the SWI/SNF chromatin remodeling complex member ARID1A as one of the most frequently altered genes in several tumor types. Its role as an ovarian tumor suppressor has been supported in compound knockout mice.							p21 (Cdkn1a) 	positive regulation	Consistent with the latter, Arid1a reexpression in tumor cells led to increased p21 (Cdkn1a) expression and dramatic accumulation of cells in G2 phase of the cell cycle.
27282397	ARID1A	Mutation	Pineal Parenchymal Cell Neoplasm	Genetic analysis of a pineoblastoma case identified somatic mutations of DICER1, ARID1A, and KDM5C genes.									
27301862	ARID1A	Mutation	Waldenstrom Macroglobulinemia	Whole-genome sequencing has identified highly prevalent somatic mutations including MYD88, CXCR4, and ARID1A in Waldenstrm macroglobulinemia (WM).									
27308548	ARID1A	Mutation	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	Most notably, ARID1A is mutated in over 50% of ovarian clear cell carcinomas (OCCCs).				EZH2	association	We reported that inhibition of enhancer of zeste homology 2 (EZH2) is synthetically lethal in ARID1A-mutated OCCC.			
27313181	ARID1A	Mutation	Gastric Carcinoma	Chromatin modifier genes, including ARID1A (21%), MLL2 (19%), MLL3 (15%), and KDM6A (7%), were frequently mutated (47%) in MGC.									
27323812	ARID1A	Mutation	Gastric Carcinoma	The tumor suppressor gene AT-rich interactive domain-containing protein 1A (ARID1A) was frequently mutated in cancers.							PI3K/AKT pathway phosphorylation	positive regulation	Serial deletion mutation analyses revealed that the ARID1A central region containing the HIC1-binding domain, but not the ARID DNA-binding domain and the C-terminal domain, was essential for the inhibition of GC cell growth, PI3K/AKT pathway phosphorylation and its transcriptional modulation activity of PIK3CA and PDK1.
27334809	ARID1A	Mutation	Liver and Intrahepatic Bile Duct Carcinoma	Given frequent inactivating mutations in a chromatin-remodeling gene (ARID1A) in intrahepatic cholangiocarcinoma in recent exome sequencing analysis, this study investigates the clinicopathologic significance of the loss of ARID1A expression in biliary carcinomas.				KRAS	Mutually exclusive	There was no biliary carcinoma harboring both loss of ARID1A expression and KRAS mutations.			
27354232	ARID1A	Mutation	Gastric Carcinoma	The chromatin remodeling gene, AT-rich interactive domain 1A gene (ARID1A), frequently mutates inactively in gastric cancer (GC).									
27364904	ARID1A	Mutation	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	Using a series of high-throughput cell-based drug screens in OCCC tumor cell models, we have identified a synthetic lethal (SL) interaction between the kinase inhibitor dasatinib and a key driver in OCCC, ARID1A mutation.									
27486766	ARID1A	underexpression (mutation)	Malignant Female Reproductive System Neoplasm	Inactivating mutations in ARID1A are found in a broad spectrum of cancer types, with the highest frequency in gynecologic cancers.									
27528032	ARID1A	Underexpression	Head and Neck Squamous Cell Carcinoma	HNSCC patients with tumors having high level of miR-31 expression and high levels of Nanog/OCT4/Sox2/EpCAM expression, together with low level of ARID1A expression, were found to have the worst survival.	miR-31	negative regulation	This study provides novel mechanistic clues demonstrating that miR-31 inhibits ARID1A and that this enriches the oncogenicity and stemness of HNSCC.				Nanog; OCT4; Sox2; EpCAM	negative regulation	Furthermore, ARID1A repressed the stemness properties and transcriptional activity of Nanog/OCT4/Sox2/EpCAM via the protein's affinity for AT-rich sites within promoters.
27562491	ARID1A	underexpression (mutation)	Undifferentiated Ovarian Carcinoma	We identified concurrent inactivating mutations involving ARID1A and ARID1B in 12 of 24 BRG1/INI1-intact, 0 of 3 INI1-deficient and 0 of 16 BRG1-deficient dedifferentiated carcinomas.				ARID1B 	concurrent	We identified concurrent inactivating mutations involving ARID1A and ARID1B in 12 of 24 BRG1/INI1-intact, 0 of 3 INI1-deficient and 0 of 16 BRG1-deficient dedifferentiated carcinomas. 			
27572311	ARID1A	Underexpression (hypoacetylation)	Malignant Germ Cell Tumor	We found that hypoacetylation at the ARID1A promotor caused repression of the SWI/SNF-complex member ARID1A.							GADD45B; DUSP1; CDKN1A	negative regulation	We found that hypoacetylation at the ARID1A promotor caused repression of the SWI/SNF-complex member ARID1A. In consequence, this resulted in upregulation of the stress-sensors and apoptosis-regulators GADD45B, DUSP1 and CDKN1A.
27622582	ARID1A	genetic aberration	Liver and Intrahepatic Bile Duct Carcinoma	The most frequent genetic aberrations (GAs) observed were tumor protein 53 (TP53; 27%), cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B; 27%), KRAS (22%), AT-rich interactive domain-containing protein 1A (ARID1A; 18%), and isocitrate dehydrogenase 1 (IDH1; 16%) in IHCCA; KRAS (42%), TP53 (40%), CDKN2A/B (17%), and SMAD4 (21%) in EHCCA; and TP53 (59%), CDKN2A/B (19%), ARID1A (13%), and ERBB2 (16%) in GBCA.									
27634656	ARID1A	Mutation	Combined Hepatocellular Carcinoma and Cholangiocarcinoma	Mutations in KRAS, IDH1/2, ARID1A, the TERT promoter and TP53 were detected in four (7.5%), six (11.8%) seven (13.2%), 16 (31.3%), and 24 patients (45.3%), respectively.									
27654507	ARID1A	Mutation	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	In a complementary experiment, expression of wild-type ARID1A in an ovarian clear cell carcinoma cell line containing mutated ARID1A, OVISE, affected the mevalonate pathway in a reciprocal manner.							Mevalonate pathway	regulation	We conclude that ARID1A status indirectly influences the mevalonate pathway and probably influences other processes including glycogen metabolism and 14-3-3-mediated signaling.
27664537	ARID1A	Mutation	Soft Tissue Sarcoma	In one sample pair (untreated primary and local recurrence resections), we identified similar copy number profiles and a somatic ARID1A R963X nonsense mutation exclusively in the local recurrence sample.									
27677953	ARID1A	Mutation	Gastric Carcinoma	Based on the recent TCGA report, the specific fingerprint of genomic alterations in EBVaGC is marked by mutations in PIK3CA, ARID1A and BCOR genes, and amplification of 9p24.1 that harbors the genes for the JAK2, PD-L1 and PD-L2 proteins.									
27681437	ARID1A	Mutation	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	ARID1A is frequently mutated in ovarian clear cell carcinoma (OCCC) and often co-exists with activating mutations of PIK3CA.				PIK3CA	co-exists	ARID1A is frequently mutated in ovarian clear cell carcinoma (OCCC) and often co-exists with activating mutations of PIK3CA.			
27699033	ARID1A	Underexpression	Clear Cell Adenocarcinoma	BAF250a-deficient expression was observed in 30% (29/97) of all CCA cases.									
27729836	ARID1A	Mutation	Nasal Type Extranodal NK/T-Cell Lymphoma	Mutations were also found in ARID1A, a chromatin remodeling gene, and TP53, which also recurred in recent NGS studies.									
27756662	ARID1A	Mutation	Meningioma	Three mutations were identified in all tumor samples exhibiting a high allelic frequency: ARID1A frameshift deletion, NF2 in-frame deletion, and missense variant of SRSF2.									
27764136	ARID1A	loss of expression 	Clear Cell Renal Cell Carcinoma	We found that 49/160 (31%), 81/160 (51%), 23/160 (14%), 24/160 (15%), and 61/160 (38%) of ccRCC showed loss of expression of PBRM1, ARID1A, SETD2, BRG1, and BRM, respectively, and that IHC could successfully detect a high prevalence of ITH.				PBRM1	accompanied	For instance, ARID1A loss almost always accompanied PBRM1 loss, whereas BRM loss accompanied loss of BRG1, PBRM1 or ARID1A.			
20441585	ARID4A	Underexpression	Epithelial Neoplasm	Nine genes were selected and the expression results of 6 down-regulated genes (ARID4A, CALR, GNB2L1, RNF10, SQSTM1, USP9X) were validated by real time PCR.									
24382590	ARID4A	Mutation	Colorectal Carcinoma	We found that in addition to ARID1A, which was mutated in 39% of the tumors (18/46), also ARID1B (13%, 6/46), ARID2 (13%, 6/46) and ARID4A (20%, 9/46) were frequently mutated.									
23736028	ASXL3	Mutation	Bohring-Opitz Syndrome	Germ-line mutations of human ASXL1 and ASXL3 occur in Bohring-Opitz and related syndromes.									
25393105	ASXL3	Mutation	Metastatic Melanoma	Extension studies using tumors from another 96 patients discovered a large number of truncation mutations in tumor suppressors (TP53 and RB1), protein phosphatases (e.g., PTEN, PTPRB, PTPRD, and PTPRT), as well as chromatin remodeling genes (e.g., ASXL3, MLL2, and ARID2)									
26192917	ASXL3	Mutation	Nasal Type Extranodal NK/T-Cell Lymphoma	Recurrent mutations were most frequently located in the RNA helicase gene DDX3X (21/105 subjects, 20.0%), tumor suppressors (TP53 and MGA), JAK-STAT-pathway molecules (STAT3 and STAT5B) and epigenetic modifiers (MLL2, ARID1A, EP300 and ASXL3).									
21158754	ATAD2B	Overexpression	Breast Carcinoma	ATAD2 is an E2F target gene that is highly expressed in gastrointestinal and breast carcinomas.									
24096005	ATAT1	Overexpression	Pancreatic Carcinoma	The microtubule regulator DCLK1 marked a morphologically distinct and functionally unique population of pancreatic cancer-initiating cells. Cells that expressed DCLK1 also expressed high levels of ATAT1, HES1, HEY1, IGF1R, and ABL1, and manipulation of these pathways in PDAC cell lines inhibited their clonogenic potential.				DLCK1	association	Cells that expressed DCLK1 also expressed high levels of ATAT1, HES1, HEY1, IGF1R, and ABL1, and manipulation of these pathways in PDAC cell lines inhibited their clonogenic potential.			
25230976	ATXN7	Underexpression	Clear Cell Renal Cell Carcinoma	Quantitative RT-PCR analysis revealed that the mRNA expression levels for the MMACHC, PTER, EPC2, ATXN7, FHIT, KIFAP3, CPEB1, MINPP1, TEX264, FAM107A, UPF3A, CDC16, MCCC1, CPSF3, and ASAP2 genes, being partner genes involved in the chimeric transcripts in the initial cohort, were significantly reduced in 26 T samples relative to the corresponding 26 N samples in the second cohort.									
27296891	ATXN7	Mutation	Colorectal Carcinoma	In conclusion we found a fusion gene between DNA repair gene Rad51C and neuro-cerebral ataxia Ataxin-7 gene in colorectal tumors.				Rad51C	Fusion	In conclusion we found a fusion gene between DNA repair gene Rad51C and neuro-cerebral ataxia Ataxin-7 gene in colorectal tumors.			
11550278	BAZ1A	overexpression (copy number gain)	Esophageal Squamous Cell Carcinoma	Five known genes (BAZ1A, SRP54, NFKBIA, MBIP, and HNF3A) and two uncharacterized ESTs (GenBank Accession numbers AA991861 and AA167732) within the amplicon showed amplification and consequent overexpression.									
22483639	BAZ1A	copy number loss	Renal Cell Carcinoma	Gene deletions involved in histone modification and chromatin remodeling affected individual subtypes (clear cell: SFMBT and SETD2; papillary type 2: BAZ1A) and the collective RCC group (KDM4C).									
19787264	BRD8	Overexpression	Colorectal Carcinoma	BRD8 protein expression level is several-fold higher in human metastatic colorectal cancer cell lines (DLD-1, HCA-7 and HCT-116) than in other cell lines tested. 									
18328944	BRD9	copy number change	Non-Small Cell Lung Carcinoma	Other potential candidate genes evidencing high numbers of genomic copy number changes (> or =40% of patients) included the following genes, encountered in >50% of 19 stage I (A+B) cancers: CEP72 and TPPP (14 of 19; 74%); AHRR, EXOC3 (previously SEC6L1), SLC9A3, LOC442126, ZDHHC11, BRD9, and TRIP13 (13/19; 68%); and CLPTM1L (alias CRR9), SLC6A3 (previously DAT1), and LOC401169 (10/19; 53%).									
25370573	BRD9	Mutation	Lung Carcinoma	Specifically, the mutant-typing of 6 BAF genes, SMARCA4, ARID2, ARID1B, BCL11A, BCL11B and BRD9 was associated with more overall mutations in the lung carcinoma samples.									
26551667	BRD9	Mutation	Cutaneous T-Cell Non-Hodgkin Lymphoma	Mutation analysis identified a broad spectrum of somatic mutations in key genes involved in epigenetic regulation (TET2, CREBBP, KMT2D (MLL2), KMT2C (MLL3), BRD9, SMARCA4 and CHD3) and signaling, including MAPK1, BRAF, CARD11 and PRKG1 mutations driving increased MAPK, NF-κB and NFAT activity upon T cell receptor stimulation.									
15543602	BRWD3	Underexpression	Chronic Lymphocytic Leukemia	Quantitative expression analysis in 22 B-CLLs revealed significant up-regulation of ARHGAP20 in CLL B cells, whereas BRWD3 was slightly down-regulated.									
22024541	BRWD3	Overexpression	Breast Carcinoma	A 1.8-fold increase in BRWD3 was observed while comparing the plasma levels of breast cancer patients (n = 54) with age-matched normal healthy controls (n = 30), and the area under the receiver operating characteristic curve (AUC) was 0.917.									
11735216	BTAF1	genetic aberration	Kidney Neoplasm	This locus, Mot1 (modifier of Tsc2 1), accounts for approximately 35% of the genetic variation in tumor size between the two strains.									
24260522	CBX6	underexpression	Glioblastoma	The most striking differences were upregulation of EZH2, PHF19, CBX8 and PHC2 and downregulation of CBX7, CBX6, EZH1 and RYBP.									
23629948	CDYL	overexpression	Hepatocellular Carcinoma	Consistent with the protein complex composition, h-CDYLb and G9a were both upregulated in HCC tissues, compared with adjacent non-cancerous liver tissues.				G9a; GLP	Form complex	h-CDYLb was found in a multiprotein complex with G9a and GLP, while the h-CDYLa complex did not contain these two enzymes.			
25331798	CDYL2	Overexpression	Colorectal Carcinoma	We found that in CD133(+) cells, 17 genes (RNASE2, PRB2, IL4, MGC27382, CLEC4C, SALL3, GIMAP1, ISG15, LOC728875, ZIK1, ICAM2, CCDC7, CDYL2, LRRC2, ZEB1, OSTF1 and CCDC144B) were significantly up-regulated compared to CD133(-) CRC cells. 									
16849538	CHD3	Overexpression	Acute Myeloid Leukemia	This profile, with overexpression of FLT3, HOXA9, MEIS1, AKR7A2, CHD3, and APBA2, partially resembles that of AML with MLL rearrangement.									
21447119	CHD3	Mutation	Gastric Carcinoma; Colorectal Carcinoma	CHD1, CHD2, CHD3, CHD4, CHD7, CHD8 and CHD9 mutations were found in five, 19, three, five, seven, 10 and seven cancers, respectively.									
26551667	CHD3	Mutation	Cutaneous T-Cell Non-Hodgkin Lymphoma	Mutation analysis identified a broad spectrum of somatic mutations in key genes involved in epigenetic regulation (TET2, CREBBP, KMT2D (MLL2), KMT2C (MLL3), BRD9, SMARCA4 and CHD3) and signaling, including MAPK1, BRAF, CARD11 and PRKG1 mutations driving increased MAPK, NF-κB and NFAT activity upon T cell receptor stimulation.									
21822268	CHD6	genetic aberration	Transitional Cell Carcinoma	Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC.									
24694993	CHD6	copy number gain	Colorectal Carcinoma	Significant gains were mostly found in chromosome 20 at position 20q12 with a frequency of 45.31% in tumor samples. Examples of genes that were associated at this cytoband were PTPRT, EMILIN3 and CHD6. 									
24755471	CHD6	Mutation	Colorectal Carcinoma	Furthermore, we documented mutations enriched in genes involved in chromatin remodeling (ARID1A, CHD6, and SRCAP) and histone methylation or acetylation (ASH1L, EP300, EP400, MLL2, MLL3, PRDM2, and TRRAP).									
27270441	CHD6	Mutation	Bladder Carcinoma	Non-silent sequence alterations were confirmed in 76 cancer-associated genes, including mutations that likely activate oncogenes TERT and PIK3CA, and alter chromatin-associated proteins (MLL3, ARID1A, CHD6 and KDM6A) and established BCa genes (TP53, RB1, CDKN2A and TSC1). 									
21447119	CHD9	Mutation	Gastric Carcinoma; Colorectal Carcinoma	CHD1, CHD2, CHD3, CHD4, CHD7, CHD8 and CHD9 mutations were found in five, 19, three, five, seven, 10 and seven cancers, respectively.									
12776203	CXXC1	loss of expression	Colon Carcinoma; Lung Carcinoma	These genes therefore represent candidate tumour suppressor genes, whose loss of function could affect the normal regulation of gene expression, whether by lack of complete suppression of genes normally silenced (via loss of MBD1 and MBD2) or by some loss of activation of genes normally expressed (via loss of CGBP), either way contributing to the tumorigenic phenotype.				MBD1	Cooperation	We have confirmed by fluorescent in situ hybridization that MBD1 and MBD2 bracket the DCC locus giving a gene order of MBD1/CGBP-DCC 5'-DCC 3'-MBD2.			
19329758	CXXC1	underexpression (copy number loss)	Colorectal Carcinoma	Reduced gene expression of CXXC1, SMAD4 and MBD2 correlates with 18q21 loss in CRC cell lines (P = 0.04, 0.02 and 0.02, respectively). 									
22469980	DIDO1	Overexpression	Melanoma	An analysis of Dido1 expression revealed an upregulation of Dido1 levels in melanoma cell lines and tissues compared with normal melanocytes.							Integrin αV	positive regulation	Finally, we demonstrated that Dido1 induces the expression of Integrin αV, thereby promoting the attachment, migration, invasion and apoptosis resistance of melanoma cells.
24559687	DMAP1	Underexpression	Neuroblastoma	We studied the expression and function of DMAP1 in NB and found that low-level expression of DMAP1 related to poor prognosis, unfavourable histology and 1p Loss of heterozygosity (LOH) of primary NB samples.							p53	positive regulation	By DMAP1 expression in NB and fibroblasts, p53 was activated in an ATM-dependent manner and p53-downstream pro-apoptotic Bcl-2 family molecules were induced at the mRNA level, resulting in p53-induced apoptotic death.; BAX and p21(Cip1/Waf1) promoter activity dependent on p53 was clearly up-regulated by DMAP1. 
17549390	DNMT3A	Overexpression	Hepatocellular Carcinoma	These results first suggest that hepatocarcinogenesis involves an increased expression of DNMT1, DNMT3a and DNMT3b mRNA and a progressive increase in the number of methylated genes from normal liver, chronic hepatitis/cirrhosis to HCC and secondly that an increase in the DNMT3a and DNMT3b mRNA levels in HCCs relative to their non-cancerous tissues may be a predictor of poor survival.									
20543577	DNMT3A	Underexpression	Colorectal Carcinoma	We found a significant decrease in mRNA for DNMT1, DNMT3a and DNMT3b, and similar reductions in DNMT1 and DNMT3a protein levels were detected by western blotting.									
21067377	DNMT3A	Mutation	Acute Myeloid Leukemia	A total of 62 of 281 patients (22.1%) had mutations in DNMT3A that were predicted to affect translation.									
21399634	DNMT3A	Mutation	Acute Monocytic Leukemia	We discovered mutations in DNMT3A (encoding DNA methyltransferase 3A) in 23 of 112 (20.5%) cases.									
21670448	DNMT3A	Mutation	Acute Myeloid Leukemia	A total of 489 patients with AML were examined for mutations in DNMT3A by direct sequencing.									
21887463	DNMT3A	Overexpression	Cervical Carcinoma	Our result showed significantly higher levels of CXCR4, DNMT3A, DNMT3B and DNMT1 transcript (p=0.0058, 0.0163, 0.0003 and <0.0001, respectively) levels in cancer tissue as compared to normal samples.									
21887466	DNMT3A	Overexpression	Gastric Carcinoma	Overexpression of DNMT1, DNMT3A and DNMT3B in gastric cancer tissues was observed in 35 (64.8%), 38 (70.4%) and 28 (51.9%) of 54 cases, respectively.									
22011581	DNMT3A	Underexpression	Lung Carcinoma	We show that Dnmt3a deficiency significantly promotes tumor growth and progression but not initiation.									
22110720	DNMT3A	Overexpression	Pancreatic Carcinoma	IHC result suggested the expressions of GLI1, DNMT1 and DNMT3a in PC tissues were all higher than those in adjacent normal tissues (p<0.05).	GLI1	positive regulation	Over-expression of GLI1 by GLI1 gene transfection (mRNA increased by 655.5±85.9%, and protein increased by 272.3±14.4%.), DNMT1 and DNMT3a mRNA and protein increased by 293.0±14.8% and 578.3±58.5%, 143.5±17.4% and 214.0±18.9%, respectively.	DNMT1	correlation	DNMT1 and DNMT3a are regulated by GLI1 in PC, and DNMT1 is its direct target gene.			
22431509	DNMT3A	Mutation	T Acute Lymphoblastic Leukemia	Using next-generation sequencing, we identify alteration in gene expression levels of EZH2 and acquired mutations in PRC2-associated genes (DNMT3A and JARID2) in human adult T-ALL.									
22489043	DNMT3A	Mutation	Myeloproliferative Neoplasm	We searched for mutations in ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 genes in 149 non-CML MPNs, including 127 classic MPNs cases.	miR-29	negative regulation	The miR-29 family and predicted target genes were among the most strongly anti-correlated miRNA:mRNA pairs; over-expression of miR-29a in vitro repressed several anti-correlated genes (including DNMT3A and DNMT3B) and substantially decreased ovarian cancer cell viability.						
22490330	DNMT3A	Mutation	Acute Myeloid Leukemia	We show mutations in DNMT3A in 96 of 415 patients with newly diagnosed AML (23.1%).									
22722925	DNMT3A	Mutation	Acute Myeloid Leukemia	Mutations in DNA methyltransferase (DNMT3A) observed in Acute Myeloid Leukemiapatients disrupt processive methylation.									
22733537	DNMT3A	Overexpression	Lung Carcinoma	Overexpression of DNA 5'-cytosine-methyltransferase 3A (DNMT3A), which silences genes including tumor suppressor genes (TSG), is involved in many cancers. 	MDM2; RB/E2F	Positive regulation; Negative regulation	MDM2 overexpression deregulates the transcriptional control of RB/E2F leading to DNA methyltransferase 3A overexpression in lung cancer.						
22768205	DNMT3A	Overexpression	Ovarian Carcinoma	Of the serious tumors, DNMT3a protein expression was significantly higher than that in benign tumor samples (P=0.001); DNMT3b was marginally significant down regulated in ovarian cancers compared to that of the benign tumors (P=0.054); DNMT1 expression has no statistical difference between ovarian cancers and benign tumor tissues (P=0.837). 									
22942708	DNMT3A	SNP	Gastric Carcinoma	found that rs16999593 in DNMT1, rs11254413 in DNMT2 and rs13420827 in DNMT3A were significantly associated with GC susceptibility (OR 1.45, 0.15, 0.66, respectively; 95% CI 1.00-2.11, p = 0.047; 0.08-0.27, p < 0.01; 0.45-0.97, p = 0.034, respectively, overdominant model). 									
23053986	DNMT3A	SNP	Gastric Carcinoma	This study evaluated the association of DNMT3A rs36012910 A>G with susceptibility to gastric cancer (GC) in a Chinese population.									
23305405	DNMT3A	Mutation	Acute Myeloid Leukemia	We identified 11 missense mutation,2 nonsense and 30 bp deletion encompassing DNMT3A.									
23341344	DNMT3A	Mutation	T Acute Lymphoblastic Leukemia	In conclusion, RUNX1 and DNMT3A are frequently mutated in T-ALL and are associated with poor prognosis in early T-ALL.									
23593078	DNMT3A	Overexpression	Breast Carcinoma	The increased DNMTs transcripts expression, viz., DNMT1, DNMT3a, and DNMT3b, in the breast cancer tissues suggest involvement of the DNMTs in the breast carcinogenesis.									
23603912	DNMT3A	Mutation	T Acute Lymphoblastic Leukemia	Importantly, we verified the high rate of DNMT3A mutations (16%) in a larger cohort of adult patients with ETP-ALL (10/68).									
23632886	DNMT3A	Mutation	Acute Myeloid Leukemia	DNMT3A(mut) were found in 20.9% of AMLs and were associated with older age (P < .0001), higher white blood cell counts (P < .0001), cytogenetically normal AML (CN-AML; P < .0001), NPM1 mutations (P < .0001), FLT3 internal tandem duplications (P < .0001), and IDH1/2 mutations (P < .0001).									
23959088	DNMT3A	Overexpression	Testicular Germ Cell Tumor	In clinical samples, DNMT3A2 was significantly overexpressed in malignant testicular tumor, and the expression of DNMT3A2 was inversely correlated with the expression of miR-199a-3p.	miR-199a-3p	negative regulation	Further characterization of miR-199a-3p revealed that it negatively regulated DNA methylation, partly through targeting DNMT3A.						
24136165	DNMT3A	Mutation	Acute Myeloid Leukemia	Driver mutant genes include those of RNA splicing (SF3B1, SRSF2, U2AF1, and ZRSR2), DNA methylation (TET2, DNMT3A, and IDH1/2), chromatin modification (ASXL1 and EZH2), transcription regulation (RUNX1), DNA repair (TP53), signal transduction (CBL, NRAS, and KRAS), and cohesin complex (STAG2).									
24282031	DNMT3A	Hypermethylation	Colorectal Carcinoma	We show for the first time hypermethylation of MMP9, DNMT3A and LIG4 in CRC which was confirmed in two CRC patient groups with different ethnicity.									
24512939	DNMT3A	Mutation	Acute Myeloid Leukemia	DNMT3A mutations were found in 17/63 (27%) of CN-AML and in 1/16 (6.3%) of CN-MDS patients.									
24606448	DNMT3A	Mutation	Acute Myeloid Leukemia	Patients with isolated DNMT3A mutations were seen in 4 cases (9%), isolated IDH mutations in 5 (11.1%), while interestingly, two cases showed both DNMT3A and IDH mutations (4.3%).									
24649006	DNMT3A	overexpression (mutation)	Hepatocellular Carcinoma	An increased expression of DNMT3A was detected, as well as -448A>G polymorphisms of DNMT3A promoter by polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP), confirmed by sequencing.									
24656771	DNMT3A	Mutation	Acute Myeloid Leukemia	Somatic mutations in DNMT3A, which encodes a de novo DNA methyltransferase, are found in 30% of normal karyotype Acute Myeloid Leukemia(AML) cases.									
24866170	DNMT3A	Mutation	Acute Myeloid Leukemia	In conclusion, we show that, in CN-AML, the most pronounced changes in DNA methylation occur in non-CGI regions and that DNMT3A mutations confer a pattern of global hypomethylation that specifically targets HOX genes.									
24887488	DNMT3A	Underexpression	Colorectal Carcinoma	mRNA expression levels of IDH1, DNMT3A, and MYD88, but not IDH2, were significantly decreased in the cancerous tissues comparing with the paired paracancerous normal tissues.									
25009393	DNMT3A	Overexpression	Gastric Carcinoma	Expression of DNMT1, DNMT3a and DNMT3b in gastric cancer was significantly higher compared to that in the paired control samples (60.0% vs 37.6%, 61.2% vs 4.7%, and 94.1% vs 71.8%, P < 0.01).									
25172541	DNMT3A	Mutation	Acute Myeloid Leukemia	DNMT3A mutations were identified in 34/120 (28%) of AML patients.									
25212276	DNMT3A	Mutation	Chronic Myelogenous Leukemia, BCR-ABL1 Positive	Somatic mutations additional to BCR-ABL were found in 5/15 patients (33%) affecting ASXL1, DNMT3A, RUNX1 and TET2.									
25281355	DNMT3A	Mutation	Acute Myeloid Leukemia	DNMT3A has a significant dominant effect on the clinical features and outcomes of de novo AML patients with concurrent DNMT3A, FLT3 and NPM1 mutations.				FLT3; NPM1	concurrent 	DNMT3A has a significant dominant effect on the clinical features and outcomes of de novo AML patients with concurrent DNMT3A, FLT3 and NPM1 mutations.			
25303747	DNMT3A	Hypermethylation	Acute Myeloid Leukemia	We demonstrate that aberrant hypermethylation within the gene DNA methyltransferase 3A (DNMT3A) - which may contribute to initiation of Acute Myeloid Leukemia(AML) - is particularly observed in AML samples that reveal significantly more age-associated DNAm changes.									
25371149	DNMT3A	Mutation	Acute Myeloid Leukemia	DNMT3A mutations were stable in 12 of 13 patients presenting with relapse or secondary myelodysplastic syndrome, but were also present in remission samples from 14 patients (at allele frequencies of <1-50%) up to 8 years after initial AML diagnosis, despite the loss of all other molecular AML markers.									
25499150	DNMT3A	Mutation	Myelodysplastic Syndrome	The most common driver gene mutations detected in patients with MDS include RNA splicing (SF3B1,SRSF2,U2F1,ZRSR2), DNA methylation (TET2,DNMT3A,IDH1/IDH2), chromatin modification (ASXL1,EZH2), transcription regulation (RUNX1,BCOR) and DNA repair control p53.									
25523507	DNMT3A	Mutation	Acute Myeloid Leukemia	Prognosis was adversely affected by high IDH1 expression, with shorter overall survival and event-free survival in the context of clinical characteristics, including age, WBC count, and gene mutations of NPM1, FLT3-ITD, CEBPA, IDH1, IDH2 and DNMT3A in CN-AML.									
25550796	DNMT3A	Overexpression	Renal Cell Carcinoma	DNMT1, DNMT3A and DNMT3B proteins were highly expressed in clear cell RCC, papillary RCC and chromophobe RCC tissues than that of no-tumor tissues (all P < 0.05).									
25801914	DNMT3A	Mutation	Acute Myeloid Leukemia	Consistent with our result, COSMIC database mining demonstrates that the combination of oncogenic RAS and DNMT3A mutations exclusively occurred in patients with JMML, CMML or AML.									
25858894	DNMT3A	Mutation	Acute Myeloid Leukemia	FLT3-ITD was detected in 51 subjects (23%; 95% CI, 17-28%), R882 mutation of DNMT3A in 17 (6%; 95% CI, 3-9%) and NRAS mutation in 17 (7%; 95% CI, 3-9%).	miR-101	negative regulation	It was determined that miR-101 decreases the occupancy of H3K27me3 by inhibiting EZH2, DNMT3A and EED and decreases the H3K9me3 occupancy on the LMO3 promoter via SUV39H1, SUV39H2, G9a and PHF8.						
25874772	DNMT3A	altered expression	Gastric Carcinoma	The de-regulation of the miR-29 family and DNA methyltransferase 3A (DNMT3A) is associated with gastric cancer (GC).	miR-29b/c	negative regulation	In 50 paired clinical GC tissue specimens, decreased miR-29b/c was significantly correlated with the degree of differentiation and invasion of the cells and was negatively correlated with DNMT3A expression. 						
25964253	DNMT3A	Mutation	Acute Myeloid Leukemia	DNMT3A mutations (DNMT3A(MUT)) were identified in 272 patients (30%) and associated with a poorer prognosis than wild-type DNMT3A, but the difference was only seen when the results were stratified according to NPM1 genotype.									
26223865	DNMT3A	Mutation	Acute Myeloid Leukemia	DNMT3A mutations are frequent in cytogenetically normal Acute Myeloid Leukemia(cn-AML) patients and associated with poor survival.									
26234722	DNMT3A	Mutation	Acute Myeloid Leukemia	A total of 115 patients who received allogeneic HCT for NK-AML were retrospectively evaluated for the FLT3-ITD, NPM1, CEBPA, DNMT3A, TET2, IDH1/2, WT1, NRAS, ASXL2, FAT1, DNAH11, and GATA2 mutations in diagnostic samples and analyzed for long-term outcomes after allogeneic HCT.									
26242829	DNMT3A	Hypomethylation; Mutation	Acute Myeloid Leukemia	Aberrant hypomethylation of DNMT3A gene was found in 55.3% (84/152) of AML cases, but the status of DNMT3A hypomethylation was not correlated with the expression of four DNMT3A isoforms as well as DNMT3A mutation.									
26256870	DNMT3A	Mutation	Myeloproliferative Neoplasm	In addition, mutations in epigenetic regulator genes such as TET2 or DNMT3A are detected in MPNs. 									
26273797	DNMT3A	Mutation	T Acute Lymphoblastic Leukemia	The Molecular Profile of Adult T-Cell Acute Lymphoblastic Leukemia: Mutations in RUNX1 and DNMT3A Are Associated with Poor Prognosis in T-ALL.									
26290145	DNMT3A	Mutation	Acute Myeloid Leukemia	The DNA methyl-transferase 3A gene (DNMT3A) is the third most frequently mutated gene in cytogenetically normal Acute Myeloid Leukemia(CN-AML) patients (20-30 %), who belong to a group of patients with intermediate risk.									
26434589	DNMT3A	Mutation	Acute Myeloid Leukemia	In recent years, somatic missense mutations of the DNA methyltransferase 3A (DNMT3A) have been reported in ~20% of AML patients; however, no obvious critical downstream gene has been identified that could explain the role of DNMT3A in the natural history of AML.							MEIS1	regulation	Herein, using whole-genome bisulfite sequencing and DNA methylation microarrays, we have identified a key gene undergoing promoter hypomethylation-associated transcriptional reactivation in DNMT3 mutant patients, the leukemogenic HOX cofactor MEIS1.
26458438	DNMT3A	Mutation	Myeloproliferative Neoplasm	Myeloproliferative neoplasms (MPNs) arise from hematopoietic stem cells (HSCs) with genetic abnormalities in combination with mutations in JAK2, MPL or CALR, which induce autosomal JAK-STAT pathway activation, and mutations in epigenetic regulator genes such as TET2 or DNMT3A.									
26677113	DNMT3A	Overexpression	Bladder Carcinoma	The expression of DNMT3A/3B protein was markedly increased in the bladder carcinoma tissues (P<0.05), and had a negative linear correlation with hepaCAM expression in the same patients according to Pearson's analysis (r=-0.7176/-0.7127, P<0.05).									
26708868	DNMT3A	Overexpression	Chronic Myelogenous Leukemia, BCR-ABL1 Positive	The expression of DNMT mRNA increases in advanced CML as compared with normal controls and CML-CP, and the increased levels of DNMT mRNA probably correlate with disease progression in CML.									
26725349	DNMT3A	Mutation	Acute Myeloid Leukemia	A new class of gene mutations, identified in the pathogenesis of adult Acute Myeloid Leukemia(AML), includes DNMT3A, IDH1/2, TET2 and EZH2.									
26892683	DNMT3A	Overexpression	Astrocytic Tumor	Strong immunopositivity (LI�?5%) for EZH2, DNMT1 and DNMT3B was detected in 52%, 56% and 64% cases of GBMs respectively, which was significantly higher as compared to Grade II/III cases.									
26927545	DNMT3A	Overexpression	Breast Carcinoma	Breast cancer tissues and breast cancer cell lines (MCF-7, MDA-MB-231, MDA-MB-361, HCC70) showed lower miR-101 expression and higher DNMT3a expression than the adjacent normal breast tissues and normal breast cell line.	miR-101	negative regulation	miR-101 may inhibit MDA-MB-231 cell proliferation and migration by repressing DNMT3a expression and up-regulating E-cadherin expression.				E-cadherin	negative regulation	Besides, knockdown of DNMT3a by shRNA increased E-cadherin expression.
26966018	DNMT3A	Overexpression	Oral Cavity Squamous Cell Carcinoma	DNMT1, DNMT3A, and DNMT3B were overexpressed in 36.9, 26, and 23 % of the OSCC patients, respectively.									
27134162	DNMT3A	Underexpression	Chronic Lymphocytic Leukemia	Promoter Hypomethylation and Expression Is Conserved in Mouse Chronic Lymphocytic Leukemia Induced by Decreased or Inactivated Dnmt3a.									
27148573	DNMT3A	mutation (loss of function)	T Acute Lymphoblastic Leukemia	Whole-exome sequencing of leukemic blasts revealed heterozygous gain-of-function driver mutations in NOTCH1, CSF3R, and PTPN11, and a homozygous/hemizygous loss-of-function mutation in DNMT3A.									
27149454	DNMT3A	Mutation	Acute Myeloid Leukemia	Effects (hazard ratios [HRs] with 95% confidence interval [CI]) of relapse-free survival (RFS) and overall survival (OS) were pooled to estimate the prognostic power of mutant DNMT3A R882 in overall patients and subgroups of AML patients.									
27177312	DNMT3A	genetic alteration	Angioimmunoblastic T-Cell Lymphoma	AITL originates from follicular T helper cells and is characterized by the presence of RHOA G17V mutation together with genetic alterations in TET2, DNMT3A, and IDH2.									
27203213	DNMT3A	Mutation	Monomorphic T/NK-Cell Post-Transplant Lymphoproliferative Disorder	Mutations of epigenetic modifier genes (TET2, KMT2C, KMT2D, DNMT3A, ARID1B, ARID2, KDM6B, n=11). and inactivation of TP53 by mutation and/or deletion(n=6) were the most frequent alterations, seen across disease subtypes, followed by mutations of JAK/STAT pathway genes (n=5).									
27208809	DNMT3A	Mutation	Mixed Phenotype Acute Leukemia	Mixed-phenotype acute leukemia (MPAL) exhibits frequent mutations in DNMT3A and activated signaling genes.									
27335278	DNMT3A	Mutation	Acute Myeloid Leukemia	Mutations in DNA methyltransferase 3A (DNMT3A) are common in Acute Myeloid Leukemiaand portend a poor prognosis; thus, new therapeutic strategies are needed. 							Dot1l	negative regulation	We observed that murine hematopoietic stem cells (HSCs) in which Dnmt3a had been conditionally deleted markedly overexpress the histone 3 lysine 79 (H3K79) methyltransferase, Dot1l.
27344947	DNMT3A	Mutation	Acute Myeloid Leukemia	Epigenetic Perturbations by Arg882-Mutated DNMT3A Potentiate Aberrant Stem Cell Gene-Expression Program and Acute Leukemia Development.				NRAS	cooperation	Here, we report that the DNMT3A mutational hotspot at Arg882 (DNMT3A(R882H)) cooperates with NRAS mutation to transform hematopoietic stem/progenitor cells and induce acute leukemia development.			
27359055	DNMT3A	Mutation	Acute Myeloid Leukemia	We selected 19 significantly-mutated genes in AMLs, including FLT3, DNMT3A, NPM1, TET2, RUNX1, CEBPA, WT1, IDH1, IDH2, NRAS, ASXL1, SETD2, PTPN11, TP53, KIT, JAK2, KRAS, BRAF and CBL, and performed massively parallel sequencing for 114 patients with acute myeloid leukemias, mainly including those with normal karyotypes (CN-AML).									
27476855	DNMT3A	Mutation	Acute Myeloid Leukemia	Mutational remission, defined as clearance of pre-treatment DNMT3A R882 and all other AML-associated mutations to a variant allele frequency 3%, occurred in 14 patients whereas persistent DNMT3A R882 mutations were observed in 42 patients.									
27543768	DNMT3A	Overexpression	Medulloblastoma	In conclusion, DNMT1, DNMT3A and DNMT3B are highly expressed in human medulloblastoma samples, suggesting that promoter hypermethylation may play a role in medulloblastoma development.									
27623253	DNMT3A	Overexpression	Squamous Cell Carcinoma	Over-expression of DNMT3A in the invasive component of the tumour was seen in 44% of tumours and was associated with an increased risk of local vulvar recurrence (LVR) (HR=4.51, p=0.012).									
27636548	DNMT3A	Mutation	Acute Myeloid Leukemia	Acute Myeloid Leukemiawith del(9q) is characterized by frequent mutations of NPM1, DNMT3A, WT1 and low expression of TLE4.									
27636998	DNMT3A	copy number loss	Acute Myeloid Leukemia	Dnmt3a deletion cooperates with the Flt3/ITD mutation to drive leukemogenesis in a murine model.				FLT3/ITD	cooperation	Functionally, FLT3/ITD and DNMT3A deletion cooperate to expand LT-HSCs, which exhibit enhanced self-renewal in serial re-plating assays.			
27666771	DNMT3A	Overexpression	Colorectal Carcinoma	Significant upregulation of DNMT1, DNMT3A, and DNMT3B expression was found in para-carcinoma tissues, compared with the histopathologically unchanged tissues (P<0.05), furthermore, distinguishable expression profiling was observed of target miRNAs in tissues with different distance.									
27724883	DNMT3A	Mutation	Acute Myeloid Leukemia	DNMT3A mutations are frequently discovered in Acute Myeloid Leukemia(AML), associated with poor outcome.				TWIST1	association	Notably, TWIST1, a critical inducer of epithelial-mesenchymal transition, which underlies the metastasis of carcinomas, was highly expressed in association with R882 mutations.			
27748882	DNMT3A	Overexpression	Ovarian Carcinoma	In the ovarian cancer tissues, DNMT3a expression was upregulated and miR-182 expression was downregulated.							miR-182; Caspase-3 and -9; p53; c-Myc	negative regulation	DNMT3a overexpression inhibited miR-182 expression and caspase-3 and -9 activity and suppressed p53 and c-Myc protein expression in Caov-3 cells.
11146446	DNMT3B	Overexpression	Colorectal Carcinoma; Gastric Carcinoma	The average level of mRNA for DNMT1 and DNMT3b in colorectal and stomach cancers was significantly higher than in corresponding non-cancerous mucosae, whereas the average level of mRNA for DNMT2 was significantly lower in colorectal and stomach cancers than in non-cancerous tissue.									
11230735	DNMT3B	Overexpression	Hepatocellular Carcinoma	Significant overexpression of DNMT3b and reduced expression of DNMT2 were observed in HCCs compared with the corresponding noncancerous liver tissues.									
12594811	DNMT3B	Overexpression	Transitional Cell Carcinoma	DNMT3B overexpression was observed in about half of all high-stage TCC (DNMT3B vs. tumor stage, chi(2): p = 0.03), whereas overexpression of DNMT3A was rarer and less pronounced.									
14555514	DNMT3B	Overexpression	Sporadic Breast Carcinoma	DNMT3B was overexpressed in 30% of the patients (5.4 and 3.1% for DNMT1 and DNMT3A, respectively).									
15528220	DNMT3B	Mutation	Lung Carcinoma	These results suggest that the DNMT3B -283T > C polymorphism influences DNMT3B expression, thus contributing to the genetic susceptibility to lung cancer.									
15661247	DNMT3B	Overexpression	Ovarian Endometrioid Adenocarcinoma	The results suggest that DNMT3B overexpression may play a significant role in endometrial cancer development.									
15721400	DNMT3B	Overexpression	Ovarian Endometrioid Adenocarcinoma	While DNMT2 and DNMT3A expression appear to be normal, two- to fourfold increase in DNMT1 and DNMT3B were found in both Grade I and Grade III endometrioid cancers.									
15885882	DNMT3B	Overexpression	Hepatocellular Carcinoma	Expression of DNMT1, DNMT3a and DNMT3b mRNA was detected in 33.3, 59.3, and 55.6% of HCCs and 40.7, 22.2, and 0% of non-neoplastic liver tissues, respectively.									
16773201	DNMT3B	Mutation	Non-Small Cell Lung Carcinoma	In non-small cell lung cancer (NSCLC) cell lines, DeltaDNMT3B variants are frequently expressed and are the predominant forms of DNMT3B.									
16888795	DNMT3B	Overexpression	Non-Small Cell Lung Carcinoma	The mRNA levels of DNMT1 and DNMT3b were elevated in 53% and 58% of 102 NSCLCs, respectively.									
17017004	DNMT3B	Overexpression	Esophageal Squamous Cell Carcinoma	All DNMTs were constitutively expressed in the normal oesophageal mucosa but a significantly higher expression of DNMT3B was observed in the tumours.									
17071074	DNMT3B	Overexpression	Sporadic Breast Carcinoma	Pairwise analyses of gene expression patterns showed that 28/32 tumours lacked BRCA1 expression and also exhibited cytoplasmic CTCF staining, while 24/32 of these tumours also overexpressed DNMT3b.									
17140695	DNMT3B	Overexpression	Lung Carcinoma	By immunohistochemical analysis, we demonstrated that DNMT1, DNMT3a and DNMT3b proteins were highly expressed in a coordinate manner in lung tumors, particularly in smokers (P=0.037, by the Fisher exact test).									
17998942	DNMT3B	Overexpression	Breast Carcinoma	Directed by microarray analyses, we report that autocrine human growth hormone (hGH) increased the mRNA and protein expression of DNA methyltransferase 1 (DNMT1), DNMT3A and DNMT3B in mammary carcinoma cells.									
18006804	DNMT3B	Mutation	Lung Carcinoma	DeltaDNMT3Bs are the predominant expression forms of DNMT3B in human lung cancer.									
18221536	DNMT3B	Overexpression	Breast Carcinoma	DNMT3b overexpression contributes to a hypermethylator phenotype in human breast cancer cell lines.									
18253830	DNMT3B	Overexpression	Gastric Carcinoma	We discovered that the positive rates of DNMT1, DNMT3a, and DNMT3b expression in GC tissues were 81.6%, 81.6%, and 68.4%, respectively, and they were significantly higher than those of both para-cancerous (39.5%, 50%, and 44.7%) and normal tissues (10.5%, 10.5%, and 7.9%).									
18414412	DNMT3B	Overexpression	Head and Neck Squamous Cell Carcinoma	However, the high level of DNMT3b expression was significantly associated with poor prognosis only in young patients (<65 years).									
18637271	DNMT3B	Overexpression	Prostate Carcinoma	SIRT1 and DNMT3B were overexpressed in cancerous over benign tissues, whereas BMI-1 was rather downregulated and DNMT1 significantly diminished.									
19470733	DNMT3B	Overexpression	Colorectal Carcinoma	Tumoral DNMT3B overexpression was significantly associated with CIMP-high [> or =6/8 methylated CIMP-specific promoters; odds ratio (OR), 3.34; 95% confidence interval, 2.11-5.29; P < 0.0001].									
20127025	DNMT3B	Overexpression	Gastric Carcinoma	These results demonstrate that DNMT3B overexpression is related to late phase invasion (P=0.029) and intestinal type (P=0.012) in GC.									
20398054	DNMT3B	Overexpression	Diffuse Large B-Cell Lymphoma	DNA methyltransferase DNMT3b protein overexpression as a prognostic factor in patients with diffuse large B-cell lymphomas.									
21068132	DNMT3B	Overexpression	Colorectal Neoplasm	DNMT3B levels of immunohistochemical expression increased significantly (p < 0.001) from normal to hyperplastic and from adenomatous polyps to carcinoma samples.							SFRP2; IGF2	regulation	DNMT3B expression correlated positively with SFRP2 methylation (r = 0.42, p < 0.001, 95% CI 0.25 to 0.56), but correlated negatively with IGF2 DMR0 methylation (r = 0.26, p = 0.01, 95% CI -0.45 to -0.05).
21458988	DNMT3B	Overexpression	Gastric Carcinoma	High DNMT1 and DNMT3b expression was found in 105/127 (83%) and 79/127 (62%) carcinomas, respectively.									
21887463	DNMT3B	Overexpression	Cervical Carcinoma	Our result showed significantly higher levels of CXCR4, DNMT3A, DNMT3B and DNMT1 transcript (p=0.0058, 0.0163, 0.0003 and <0.0001, respectively) levels in cancer tissue as compared to normal samples.									
21887466	DNMT3B	Overexpression	Gastric Carcinoma	Overexpression of DNMT1, DNMT3A and DNMT3B in gastric cancer tissues was observed in 35 (64.8%), 38 (70.4%) and 28 (51.9%) of 54 cases, respectively.									
21909138	DNMT3B	Overexpression	Hepatocellular Carcinoma	DNMT3B overexpression was detected in 81.25% of clinical HCC specimens and was negatively associated with MTSS1 in HCC cells and clinical samples.							MTSS1	negative regulation	Taken together, MTSS1, a novel target of DNMT3B, is repressed by DNMT3B via a DNA methylation-independent mechanism.
22244828	DNMT3B	Overexpression	Colorectal Carcinoma	Forced DNMT3B overexpression in cancer cells restored the methylation levels of these promoters in the healthy colon.									
22301400	DNMT3B	Overexpression	Pancreatic Ductal Adenocarcinoma	Patients with higher levels of DNMT1, DNMT3A and/or DNMT3B expression had an overall lower survival than those with lower levels of expression.									
22330137	DNMT3B	Overexpression	Cervical Carcinoma	Here, we report evidence of the overexpression of DNA methyltransferases 3B (DNMT3B) in invasive cervical cancer and of the inhibition of metastasis by DNMT3B interference.									
22394436	DNMT3B	Overexpression	Testicular Seminoma	Patients with seminomas showing focal DNMT3B expression are at increased risk of relapse, and should be followed up carefully.									
22919364	DNMT3B	Overexpression	Pancreatic Carcinoma	DNMT3B overexpression in tumor tissue was positively correlated with both lymph nodes spreading (P = 0.046) and resection margin status (P = 0.04), and a borderline association with perineural invasion (P = 0.06) was found.				DNMT1	correlation	Expression levels between PPARγ and DNMT1 and between DNMT1 and DNMT3B were highly correlated (P = 0.008 and P = 0.05 resp.).			
23307264	DNMT3B	Overexpression	Rectal Neoplasm	The DNMT3b expression in neoplastic rectal epithelium (0.76, range 0.59-0.84) was increased compared to that observed in non-neoplastic epithelium (0.32, range 0.18-0.67, P < 0.001).									
23420051	DNMT3B	Overexpression	Ovarian Carcinoma	The results indicated that the mRNA expression of DNMT1, DNMT3b and class I HDACs was increased in ovarian cancers, while the expression of DNMT3a was not different between cancer tissues and normal ovaries.									
23666104	DNMT3B	SNP	Ovarian Carcinoma	Therefore, we evaluated the possible association of single nucleotide polymorphisms (SNPs) of DNA methyltransferases (DNMTs) genes, including DNMT1, DNMT3B, and DNMT3A, with ovarian cancer development in the Polish population.									
23677709	DNMT3B	SNP	Cervical Carcinoma	Our results suggest that genotyping the 46359CT polymorphism in DNMT3B may help identify women who are genetically susceptible to cervical cancer development.									
24548441	DNMT3B	Overexpression	Lung Carcinoma	The protein expressions of DNMT1, DNMT3a and DNMT3b in patients with lung cancer (15 ± 10, 997 ± 76 , 302 ± 25) were higher than those of the controls (13 ± 10, 344 ± 93, 108 ± 22).									
24625449	DNMT3B	Overexpression	Lip and Oral Cavity Carcinoma	Activated IL-6 signaling might be responsible to the induction of DNMT3b overexpression on oral cancer.	IL-6	Positive regulation	Activated IL-6 signaling might be responsible to the induction of DNMT3b overexpression on oral cancer.						
25009393	DNMT3B	Overexpression	Gastric Carcinoma	Expression of DNMT1, DNMT3a and DNMT3b in gastric cancer was significantly higher compared to that in the paired control samples (60.0% vs 37.6%, 61.2% vs 4.7%, and 94.1% vs 71.8%, P < 0.01).									
25122426	DNMT3B	Overexpression	Lung Carcinoma	DNMT3B overexpression by deregulation of FOXO3a-mediated transcription repression and MDM2 overexpression in lung cancer.	FOXO3a; MDM2	Negative regulation; Positive regulation	We reveal a new mechanism that FOXO3a transcriptionally represses DNMT3B expression and this regulation can be attenuated by MDM2 overexpression in human lung cancer model.						
25204569	DNMT3B	Overexpression	Acute Myeloid Leukemia	In multivariable analyses, high DNMT3B expression remained an independent predictor of lower CR rates (P=0.04) and shorter DFS (P=0.04) and OS (P=0.001).									
25550796	DNMT3B	Overexpression	Renal Cell Carcinoma	DNMT1, DNMT3A and DNMT3B proteins were highly expressed in clear cell RCC, papillary RCC and chromophobe RCC tissues than that of no-tumor tissues (all P < 0.05).									
25769449	DNMT3B	Mutation	Colorectal Carcinoma	Our results suggest that DNMT3b polymorphism is involved in the development of colon cancer and non-random genes promoter methylation among Iranian population.									
25938433	DNMT3B	Overexpression	Prostate Carcinoma	Relatively higher expression of DNA methyl-transferases (DNMT1 and DNMT3b) and HIF-1α genes (34-50%, P<0.05) were also detected in tumor tissues.									
26305882	DNMT3B	Overexpression	Colorectal Carcinoma	DNMT1, DNMT3B, and EZH2 were expressed at significantly higher levels in tumor vs. normal tissues.									
26406961	DNMT3B	SNP	Colorectal Carcinoma	DNMT3B-579G>T polymorphism might contribute to the susceptibility of cancers especially in the Asian population and for colorectal cancer.									
26629529	DNMT3B	Mutation	Lung Carcinoma	In this study, we found that most of the lung cancer cell lines tested predominantly expressed DNMT3B isoforms without exons 21, 22 or both 21 and 22 (a region corresponding to the enzymatic domain of DNMT3B) termed DNMT3B/DNMT3B-del.									
26660680	DNMT3B	Hypermethylation	Hepatocellular Carcinoma	Significantly higher frequencies of methylation of CDH1, DNMT3b and ESR1 were found in HBV-related HCC compared with LC, CHB and NCs.									
27133822	DNMT3B	copy number loss	Acute Myeloid Leukemia	In this study, we demonstrated that deletion of Dnmt3b accelerated the progression of MLL-AF9 leukemia by increasing stemness and enhancing cell cycle progression.									
27317771	DNMT3B	Underexpression	Bladder Carcinoma	Consistent with this, ANG-MMP2 overexpression and DNMT3b underexpression correlated with reduction in disease free survival of human bladder cancer patients.	ANG	negative regulation	Mechanistically, ANG negatively regulated DNA methyltransferase 3b (DNMT3b) enzymatic activity by down-regulating its expression and inhibiting its recruitment to the MMP2 promoter.						
27543768	DNMT3B	Overexpression	Medulloblastoma	Elevated expression of DNMT1, DNMT3A and DNMT3B was observed in 63.64%, 68.18% and 72.73% of all cases, respectively.									
27764816	DNMT3B	Overexpression	Rhabdomyosarcoma	Our study show for the first time a significant up-regulation of DNMT3B levels in 14 RMS tumour samples and 4 RMS cell lines in comparison to normal skeletal muscle. 									
14987796	DPF2	Underexpression	Mesothelioma	Among them, the expression levels of eight genes, namely BF, FTL, IGFBP7, RARRES1, RARRES2, RBP1, SAT, and TXN according to HUGO nomenclature, were increased, whereas six: ALOX5AP, CLNS1A, EIF4A2, ELK3, REQ and SYPL, were found to be underexpressed in mesothelioma microdissected cells.									
16109180	DPF3	Mutation	Breast Carcinoma	Polymorphisms in the 5' region of DPF3 were associated with increased risk of breast cancer development, lymph node metastases, age of onset, and tumor size in women of European ancestry.									
25230976	EPC2	Underexpression	Clear Cell Renal Cell Carcinoma	Quantitative RT-PCR analysis revealed that the mRNA expression levels for the MMACHC, PTER, EPC2, ATXN7, FHIT, KIFAP3, CPEB1, MINPP1, TEX264, FAM107A, UPF3A, CDC16, MCCC1, CPSF3, and ASAP2 genes, being partner genes involved in the chimeric transcripts in the initial cohort, were significantly reduced in 26 T samples relative to the corresponding 26 N samples in the second cohort.									
22723308	EYA3	Overexpression	Ewing Sarcoma	Herein, we show that the DNA repair protein and transcriptional cofactor, EYA3, is highly expressed in Ewing sarcoma tumor samples and cell lines compared with mesenchymal stem cells, the presumed cell-of-origin of Ewing sarcoma, and that it is regulated by the EWS/FLI1 fusion protein transcription factor.	EWS/FLI1; MIR-708	Positive regulation; Negative regulation	We further show that EWS/FLI1 mediates upregulation of EYA3 via repression of miR-708, a miRNA that targets the EYA3 3'-untranslated region, rather than by binding the EYA3 promoter directly.						
24441146	EYA3	Overexpression	Acute Myeloid Leukemia	Gene expression profiling showed a unique signature characterized by significantly higher expression of EYA3, SESN1, PRDM2/RIZ, and HIST2H4 genes.									
16778363	FXR2	Mutation	Acute Megakaryoblastic Leukemia	Here we report a novel p53/an autosomal homolog of the fragile X mental retardation (FXR2) chimeric gene generated by an interstitial deletion.				p53	Fusion	Here we report a novel p53/an autosomal homolog of the fragile X mental retardation (FXR2) chimeric gene generated by an interstitial deletion.			
21334929	GATAD2B	copy number loss	Oral Cavity Squamous Cell Carcinoma	The highest amplification frequencies (100%, 7/7) were detected in FAM5B, TIPARP, PIK3CA, NLGN1, FGF10, HDAC9, GRM3, DDEF1, EDNRB, CHRDL1, and HTR2C, and the highest deletion frequencies in THRAP3, CTTNBP2NL, GATAD2B, REL, CKAP2L, RHOA, EIF4E3, PDLIM5, FBXO3, NEUROD4, and ABCA5 in the OSCC.									
21544814	GLYR1	Underexpression	Colorectal Carcinoma	Immunohistochemical staining of GLYR1 revealed defective protein expression in tumors carrying biallelic mutations, supporting a loss of function hypothesis.									
24012641	GLYR1	Mutation	Prostate Carcinoma	The fusion genes EIF2AK1-ATR and GLYR1-SLC9A8 were predicted to be damaging and oncogenic.				SLC9A8	Fusion	The fusion genes EIF2AK1-ATR and GLYR1-SLC9A8 were predicted to be damaging and oncogenic.			
17182829	HAT1	Overexpression	Hepatocellular Carcinoma	The expression of Suv4-20h2 and RIZ1 histone methyltransferases (HMTs) steadily decreased along with the development of liver tumors and reached its lowest level in tumor tissue, whereas the expression of Suv39-h1 HMT and histone acetyltransferase 1 (HAT1) substantially increased in tumors.									
25120766	HAT1	Overexpression	Esophageal Squamous Cell Carcinoma	The expression of HAT1 was validated to be higher in the primary tumors and adjacent tissue as compared to that of the normal esophageal tissue.									
25358520	HAT1	Underexpression	Breast Carcinoma	The expression of DNMT3A/B increased at the initial stages of oncogenesis and the expression of DNMT1 and HAT1 decreased at the advanced stages of breast cancer.									
14973063	JADE1	Overexpression	Renal Cell Carcinoma	Jade-1 protein interacts strongly with VHL and is most highly expressed in renal proximal tubules, precursor cells of renal cancer.				von Hippel-Lindau (VHL)	Stabalization	Short-lived Jade-1 protein contains plant homeodomain (PHD) and candidate PEST degradation motifs and is substantially stabilized by VHL.			
22516360	JADE1	Underexpression	Renal Cell Carcinoma	The expression of Jade-1 protein in the RCC group was significantly lower than that in the normal group (0.1655 vs 0.7438, P < .05), and the expression of β-catenin protein was significantly greater than that in the normal group (0.2756 vs 0.0855, P < .05).									
23824745	JADE1	Underexpression	Renal Cell Carcinoma	 In addition, they prompt further investigation of Jade-1 as a candidate biomarker and tumor suppressor in clear-cell RCC.							Phospho-AKT/AKT1	positive regulation	Here, using kinase arrays, we identified phospho-AKT1 as an important target of Jade-1. Overexpressing or silencing Jade-1 in RCC cells increased or decreased levels of endogenous phospho-AKT/AKT1.
26345967	JADE1	Overexpression	Pancreatic Ductal Adenocarcinoma	The node degree of hsa-miR-200c, hsa-miR-429, and hsa-miR-200b (miRNA), and EFNB2, MYRIP, and PHF17 (mRNA) were extremely high in the miRNA-mRNA network, indicating that these miRNA and mRNA may play a key role in the development of pancreatic cancer.									
22847005	KDM1B	Underexpression	Head and Neck Squamous Cell Carcinoma	This process results in suppression of several epigenetic regulators (AOF1/AOF2 and DNMT1) and the up-regulation of several survival proteins (cIAP-1, cIAP-2, and XIAP) leading to self-renewal, clonal formation, and cisplatin resistance.									
21536236	KDM3B	mutation	Myelodysplastic Syndrome	This case, together with previously published studies, suggests that the proximal boundary of the common deleted region may lie within the KDM3B gene.									
22120715	KDM3B	Overexpression	Prostate Carcinoma	Our results show that the KDMs JARID1B, PHF8, KDM3A, KDM3B and KDM4A were highly expressed in clinical PrCa samples.									
22345654	KDM3B	Underexpression	Colorectal Carcinoma	A low expression of the JMJD1B protein was positively correlated with the lymph node status (p=0.032), Dukes' classification (p=0.008) and TNM staging (p=0.022) of patients with CRC.									
27630312	KDM4D	Overexpression	Classical Hodgkin Lymphoma	Strong KDM4B and KDM4D Expression Associates with Radioresistance and Aggressive Phenotype in Classical Hodgkin Lymphoma.									
22573479	KDM7A	Downregulation	Breast Carcinoma	Affymetrix screening and confirmatory qPCR and Western blotting analysis of syndecan-1-deficient cells revealed upregulation of ATF-2, COX-2, cadherin-11, vinculin, actin γ 2, MYL9, transgelin-1, RhoA/C, matrix metalloproteinase 2 (MMP2) and heparanase, and downregulation of AML1/RUNX1, E-cadherin, CLDN1, p21WAF/CIP, cyclin-dependent kinase 6, TLR-4, PAI1/2, Collagen1alpha1, JHDM1D, Mpp4, MMP9, matrilin-2 and ANXA3/A10.									
25867764	KIAA2026	Mutation	Sarcoma	Three novel (KIAA2026-NUDT11, CCBL1-ARL1, and AFF3-PHF1) and two previously known fusions (FUS-CREB3L2 and HAS2-PLAG1) were found and could be verified by other methods.				NUDT11	Fusion	Three novel (KIAA2026-NUDT11, CCBL1-ARL1, and AFF3-PHF1) and two previously known fusions (FUS-CREB3L2 and HAS2-PLAG1) were found and could be verified by other methods.			
24362818	KMT2D	Mutation	Follicular Lymphoma	Longitudinal analyses identified early driver mutations in chromatin regulator genes (CREBBP, EZH2 and KMT2D (MLL2)), whereas mutations in EBF1 and regulators of NF-κB signaling (MYD88 and TNFAIP3) were gained at transformation.									
26032282	KMT2D	Mutation	Adrenal Gland Pheochromocytoma	Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.									
26366712	KMT2D	Mutation	Diffuse Large B-Cell Lymphoma; Follicular Lymphoma	Here we show that FL- and DLBCL-associated KMT2D mutations impair KMT2D enzymatic activity, leading to diminished global H3K4 methylation in germinal-center (GC) B cells and DLBCL cells.									
26437033	KMT2D	Mutation	Breast Fibroepithelial Neoplasm	Second, phyllodes tumors exhibited mutations in FLNA, SETD2 and KMT2D, suggesting a role in driving phyllodes tumor development.									
26551667	KMT2D	Mutation	Cutaneous T-Cell Non-Hodgkin Lymphoma	Mutation analysis identified a broad spectrum of somatic mutations in key genes involved in epigenetic regulation (TET2, CREBBP, KMT2D (MLL2), KMT2C (MLL3), BRD9, SMARCA4 and CHD3) and signaling, including MAPK1, BRAF, CARD11 and PRKG1 mutations driving increased MAPK, NF-κB and NFAT activity upon T cell receptor stimulation.									
26841698	KMT2D	Mutation	Intraocular Medulloepithelioma	Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas.									
26900290	KMT2D	Mutation	Esophageal Squamous Cell Carcinoma	Mutations were validated in several genes, including in TP53, CDKN2A, FAT1, NOTCH1, PIK3CA, KMT2D and NFE2L2, which had been previously implicated in ESCC.									
26980298	KMT2D	mutation (loss of function)	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma	Of these, loss of function mutations of NF2, KMT2D, and PKHD1 were repeatedly seen in three samples (27%), two samples (18%), and two samples (18%), respectively. Using direct Sanger sequencing, two samples (18%) were also found with a RASAL1 mutation.									
27203213	KMT2D	Mutation	Monomorphic T/NK-Cell Post-Transplant Lymphoproliferative Disorder	Mutations of epigenetic modifier genes (TET2, KMT2C, KMT2D, DNMT3A, ARID1B, ARID2, KDM6B, n=11). and inactivation of TP53 by mutation and/or deletion(n=6) were the most frequent alterations, seen across disease subtypes, followed by mutations of JAK/STAT pathway genes (n=5).									
27280393	KMT2D	Overexpression	Pancreatic Ductal Adenocarcinoma	Reduced Expression of Histone Methyltransferases KMT2C and KMT2D Correlates with Improved Outcome in Pancreatic Ductal Adenocarcinoma.									
27389057	KMT2D	Mutation	Follicular Lymphoma	The genes most frequently mutated in tFL included KMT2D (MLL2), CREBBP, EZH2, BCL2 and MEF2B.									
27749841	KMT2D	Mutation	Esophageal Squamous Cell Carcinoma	By contrast, the majority of truncal and clonal driver mutations occurred in tumor-suppressor genes, including TP53, KMT2D and ZNF750, among others.									
17182829	KMT5C	Underexpression	Hepatocellular Carcinoma	The expression of Suv4-20h2 and RIZ1 histone methyltransferases (HMTs) steadily decreased along with the development of liver tumors and reached its lowest level in tumor tissue, whereas the expression of Suv39-h1 HMT and histone acetyltransferase 1 (HAT1) substantially increased in tumors.									
18974389	KMT5C	Underexpression	Non-Small Cell Lung Carcinoma	Loss of H4K20 trimethylation was associated with decreased expression of Suv4-20h2, a specific H4K20 trimethyltransferase involved in telomere length maintenance.									
22101407	KMT5C	Underexpression	Breast Carcinoma	Reduced amounts of H4K16ac and H4K20me3 correlated with lower levels of MYST2 and SUV420H2 in mesenchymal cells and, along with reduced amounts of histone H3 lysine 9 acetylation (H3K9ac), were found to distinguish epithelial from mesenchymal cells. In addition, both GLS1 and GFPT2 play roles in glutamine metabolism and were observed to be more highly expressed in mesenchymal cell lines, and when glutamine and glutamate levels reported in the NCI-60 metabolomics dataset were compared, the ratio of glutamate/glutamine was found to be higher in mesenchymal cells.									
26159519	L3MBTL2	copy number loss	Neuroblastoma	Array CGH analysis of individual clones of MSDACs revealed genetic alterations in chromosomes 1, 7, 8, and 22, corresponding to a gain in the copy numbers of LOC100288142, CD1C, CFHR3, FOXP2, MDFIC, RALYL, CSMD3, SAMD12-AS1, and MAL2, and a loss in ADAM5, LOC400927, APOBEC3B, RPL3, MGAT3, SLC25A17, EP300, L3MBTL2, SERHL, POLDIP3, A4GALT, and TTLL1.									
20698951	L3MBTL4	underexpression (mutation)	Breast Carcinoma	The gene is targeted by deletion, breakage and mutations and its mRNA is downregulated in breast tumors.									
22018275	L3MBTL4	mutation	Acute Myeloid Leukemia	We identified common deleted regions at 5q, 15q, 18p, and 19p. The tumor suppressor gene L3MBTL4 and zinc finger proteins reside within 18p and 19p, respectively.									
19603017	MBD5	Overexpression	Ovarian Carcinoma	Our results suggest that the overexpression of uPA, CD44 and MRD1 is correlated with EOC progression; both uPA and CD44 are related with drug resistance during EOC metastasis and could be useful therapeutically.									
26137238	MBD5	Overexpression	Acute Lymphoblastic Leukemia	The high level expression of BAALC had a significant association with the pre-B-ALL subtype, leukocytosis and positive MRD after one year of treatment in leukemic patients. In addition, a positive correlation between BAALC and MDR1 mRNA expression was shown in this group.				BAALC	positive correlation	In addition, a positive correlation between BAALC and MDR1 mRNA expression was shown in this group.			
23959973	MBTD1	Mutation	Endometrioid Stromal Sarcoma	The presence of the MBTD1-CXorf67 fusion transcript was validated in both cases using reverse-transcription polymerase chain reaction followed by Sanger sequencing.				CXorf67	Fusion	The presence of the MBTD1-CXorf67 fusion transcript was validated in both cases using reverse-transcription polymerase chain reaction followed by Sanger sequencing.			
24530230	MBTD1	Mutation	Endometrioid Stromal Sarcoma	The chimeric transcripts described in endometrial stromal sarcomas (ESS) are JAZF1/SUZ12, YWHAE/FAM22, ZC3H7/BCOR, MBTD1/CXorf67, and recombinations of PHF1 with JAZF1, EPC1, and MEAF6.				CXorf67	Fusion	The chimeric transcripts described in endometrial stromal sarcomas (ESS) are JAZF1/SUZ12, YWHAE/FAM22, ZC3H7/BCOR, MBTD1/CXorf67, and recombinations of PHF1 with JAZF1, EPC1, and MEAF6.			
22761769	MEAF6	Mutation	Endometrioid Stromal Sarcoma	Here, we show that PHF1 is recombined with a novel fusion partner, MEAF6 from 1p34, in an ESS carrying a t(1;6)(p34;p21) translocation as the sole karyotypic anomaly.				PHF1	Fusion	Here, we show that PHF1 is recombined with a novel fusion partner, MEAF6 from 1p34, in an ESS carrying a t(1;6)(p34;p21) translocation as the sole karyotypic anomaly.			
24285434	MEAF6	Mutation	Malignant Ossifying Fibromyxoid Tumor	ZC3H7B-BCOR and MEAF6-PHF1 fusions occurred predominantly in S100 protein-negative and malignant OFMT.				PHF1	Fusion	ZC3H7B-BCOR and MEAF6-PHF1 fusions occurred predominantly in S100 protein-negative and malignant OFMT.			
24530230	MEAF6	Mutation	Endometrioid Stromal Sarcoma	MEAF6/PHF1 is a recurrent gene fusion in endometrial stromal sarcoma.				PHF1	Fusion	MEAF6/PHF1 is a recurrent gene fusion in endometrial stromal sarcoma.			
26429873	MEAF6	Mutation	Endometrioid Stromal Sarcoma	All three LG-ESSs exhibited either one of JAZF1-SUZ12, JAZF1-PHF1 and MEAF6-PHF1 fusions, whereas the two UUSs did not.				PHF1	Fusion	All three LG-ESSs exhibited either one of JAZF1-SUZ12, JAZF1-PHF1 and MEAF6-PHF1 fusions, whereas the two UUSs did not.			
26490322	MGA	Overexpression	Breast Carcinoma	MGA mRNA was expressed in the peripheral blood of 39 breast cancer patients and in none of the women from the control group.									
26684240	MGA	Mutation	Pancreatic Gastrin-Producing Neuroendocrine Tumor	Among 12 GEP-NETs, eight showed mutations of more than one cancer-related gene, including TP53, CNBD1, RB1, APC, BCOR, BRAF, CTNNB1, EGFR, EP300, ERBB3, KDM6A, KRAS, MGA, MLL3, PTEN, RASA1, SMARCB1, SPEN, TBC1D12, and VHL.									
25947577	MORF4L2	Overexpression	Neuroendocrine Neoplasm	Progressive disease was identified by elevated levels of a quotient of MORF4L2 expression and SUVmax [ROC-derived AUC (R (2)=0.7, p<0.05)].									
18829976	MRGBP	Overexpression	Colorectal Adenoma; Colorectal Carcinoma	The genes C20orf24, AURKA, RNPC1, TH1L, ADRM1, C20orf20 and TCFL5, mapping at 20q, were significantly overexpressed in carcinomas compared with adenomas as a consequence of copy number gain of 20q.									
20051959	MRGBP	Overexpression	Colorectal Carcinoma	The elevated expression of MRGBP was observed in colorectal cancer tissues by quantitative PCR as well as immunohistochemical analyses.							BRD8	regulation	As RNA interference against BRD8 also suppressed proliferation of colorectal cancer cells, BRD8 may be an important down-stream target of MRGBP.
21535316	MRGBP	Overexpression	Colorectal Carcinoma	Immunohistochemical staining of 22 adenomas and 47 carcinomas in the colon and rectum showed that high levels of MRGBP expression were observed more frequently in carcinomas (45%) than adenomas (5%), linking its role to malignant properties of colorectal tumors.									
22740868	NCOA7	genetic alteration	Breast Carcinoma	Given that NCoA7 is expressed in the mammary gland, alterations in this gene may affect breast cancer risk.									
27509054	NCOA7	Overexpression	Oral Cavity Squamous Cell Carcinoma	Of them, expression of NCOA7 was found to be up-regulated in OSCC tissues by immunohistochemistry staining and western blotting, and correlated with a pan of clinicopathologic parameters, including lesion site, tumor differentiation status and lymph node metastasis.									
19185988	PCGF1	Overexpression	Oral Cavity Squamous Cell Carcinoma	The SP cells expressed higher levels of ABCG2, ABCB1, CD44, Oct-4, Bmi-1, NSPc1 and CK19. 									
24260522	PHC2	Overexpression	Glioblastoma	The most striking differences were upregulation of EZH2, PHF19, CBX8 and PHC2 and downregulation of CBX7, CBX6, EZH1 and RYBP.									
17001316	PHC3	loss of expression	Osteosarcoma	When we examined normal bone and human osteosarcoma tumors, we found loss of PHC3 expression in 36 of 56 osteosarcoma tumors.				E2F6	Colocalization	In differentiating and confluent cells, PHC3 and E2F6 showed nuclear colocalization in a punctate pattern that resembled the binding of polycomb bodies to heterochromatin.			
20491773	PHC3	Underexpression	Osteosarcoma	 Relative PHC3 values of clinical samples were less than those of normal bone tissues, whereas they were greater than those of cell lines.									
23942079	PHC3	Overexpression	Epithelial Neoplasm	Data from more than 1000 cancer patients show for the first time that the PcG member PHC3 is amplified in three epithelial neoplasms (rate: 8-35%).									
21151023	PHF11	mutation	Chronic Lymphocytic Leukemia	Deletion of a 1Mb gene cluster (48.2-49.2Mb), including SETDB2, PHF11 and RCBTB1, was significantly associated (P<0.01) with disease progression.									
24005033	PHF11	hypermethylation	Ewing Sarcoma	Eight genes (CTHRC1, DNAJA4, ECHDC2, NEFH, NPTX2, PHF11, RARRES2, TSGA14) showed methylation frequencies of>20% in ES tumors (range 24-71%), these genes were expressed in human bone marrow derived mesenchymal stem cells (hBMSC) and hypermethylation was associated with transcriptional silencing.									
26856686	PHF12	Overexpression	Prostate Carcinoma	Seven of the 42 genes evaluated (PCA3, ELF3, HIST1H2BG, MYO6, GALNT3, PHF12 and GDF15) were found to be independent predictors for discriminating patients with PCa from controls.									
23260012	PHF20L1	Mutation	Breast Carcinoma	From this analysis we identified 9 expressed fusion genes: APPBP2-PHF20L1, BCAS3-HOXB9, COL14A1-SKAP1, TAOK1-PCGF2, TIAM1-NRIP1, TIMM23-ARHGAP32, TRPS1-LASP1, USP32-CCDC49 and ZMYM4-OPRD1.				APPBP2	Fusion	From this analysis we identified 9 expressed fusion genes: APPBP2-PHF20L1, BCAS3-HOXB9, COL14A1-SKAP1, TAOK1-PCGF2, TIAM1-NRIP1, TIMM23-ARHGAP32, TRPS1-LASP1, USP32-CCDC49 and ZMYM4-OPRD1.			
26588862	PHF20L1	Overexpression	Breast Carcinoma	Among seven TDRDs that had the highest frequency (>10%) of gene amplification, the plant homeodomain finger protein 20-like 1 (PHF20L1) was the most commonly amplified (17.62%) TDRD gene in TCGA breast cancers.				DNMT1	Stabalization	Mechanistically, PHF20L1 might participate in regulating DNA methylation by stabilizing DNA methyltransferase 1 (DNMT1) protein in breast cancer.			
25454821	PHF21B	loss of expression	Head and Neck Squamous Cell Carcinoma	PHF21B losses were detected in 43 tumors and were significantly associated with patients with familial history of cancer (P < 0.0001); i.e., 36/43 cases showed a positive family history of cancer and 22/36 had first-degree relatives with cancer (P = 0.049).									
24535671	PHF23	Mutation	Acute Myeloid Leukemia	In this report, we show that expression of a NUP98-PHF23 (NP23) fusion, associated with acute myeloid leukemia (AML) in humans, leads to myeloid, erythroid, T-cell, and B-cell leukemia in mice.				NUP98	fusion	In this report, we show that expression of a NUP98-PHF23 (NP23) fusion, associated with acute myeloid leukemia (AML) in humans, leads to myeloid, erythroid, T-cell, and B-cell leukemia in mice.	Hoxa; Hoxb; Meis1	positive regulation	Treatment of NP23 cells with disulfiram, which inhibits the binding of PHD motifs to H3K4me3, rapidly and selectively killed NP23-expressing myeloblasts; cell death was preceded by decreased expression of Hoxa, Hoxb, and Meis1.
26066811	PHF23	Mutation	Acute Myeloid Leukemia	We identified a chimeric transcript involving NUP98 and PHF23, resulting from a cryptic t(11;17)(p15;p13) translocation, demonstrating, for the first time, that NUP98-PHF23 is a novel recurrent (2.6%) abnormality in pediatric CN-AML.				NUP98	Fusion	We identified a chimeric transcript involving NUP98 and PHF23, resulting from a cryptic t(11;17)(p15;p13) translocation, demonstrating, for the first time, that NUP98-PHF23 is a novel recurrent (2.6%) abnormality in pediatric CN-AML.			
27060678	PHF23	Mutation	Acute Myeloid Leukemia	NUP98-PHF23 fusion is recurrent in Acute Myeloid Leukemiaand shares gene expression signature of leukemic stem cells.				NUP98	Fusion	NUP98-PHF23 fusion is recurrent in Acute Myeloid Leukemiaand shares gene expression signature of leukemic stem cells.			
11856869	PHF3	Underexpression	Glioma	PHF3 is ubiquitously expressed in normal tissues including brain, but its expression is significantly reduced or lost in glioblastoma, glioblastoma cell lines, anaplastic astrocytomas and astrocytomas.									
23911286	PHRF1	Underexpression	Breast Carcinoma	Remarkably, we found that the PHRF1 gene is deleted or silenced in a high proportion of human breast cancer samples and cancer cell lines.									
27608840	PHRF1	Underexpression	Non-Small Cell Lung Carcinoma	The lower level of PHRF1 mRNA was observed in human lung cancer tissues than that in paracancerous tissues.									
27422265	POGZ	SNP	Plasma Cell Myeloma	The corresponding SNPs are located in genes involved in drug metabolism (ABCC1, ABCC6), development and function of the nervous system (POGZ, NFAT pathway, EDN1), modulation of immune responses (IL17RD, IL10RA) and the NF-κB signaling pathway (PSMB4, BTCR, F2).									
22349239	PPP4R3A	Underexpression; hypermethylation	Ovarian Carcinoma; Cervical Carcinoma	Also, expression of BLU and sMEK1 was down-regulated in ovarian and cervical patients, and was hypermethylated.									
25516889	PRDM10	Mutation	Undifferentiated Pleomorphic Sarcoma	Using RNA-Seq, two cases of UPS were found to display novel gene fusions, both involving the transcription factor PRDM10 as the 3' partner and either MED12 or CITED2 as the 5' partner gene.				MED12	Fusion	Further screening of 82 soft tissue sarcomas for rearrangements of the PRDM10 locus revealed one more UPS with a MED12/PRDM10 fusion.			
23508829	PRDM11	Mutation	Acute Lymphoblastic Leukemia	Whole-exome- and whole-genome-sequencing of MHH-CALL-2 revealed homozygous non-synonymous coding mutations predicted to be deleterious for the protein function of 63 genes, among them known cancer-associated genes, such as FANCA, NF1, TCF7L2, CARD11, EP400, histone demethylases, and transferases (KDM6B, KDM1A, PRDM11).									
25499759	PRDM11	Underexpression	Diffuse Large B-Cell Lymphoma	Moreover, we show that patients with PRDM11-deficient diffuse large B-cell lymphomas (DLBCLs) have poorer overall survival and belong to the nongerminal center B-cell-like subtype.							FOS; JUN	regulation	Mechanistically, genome-wide mapping of PRDM11 binding sites coupled with transcriptome sequencing in human DLBCL cells evidenced that PRDM11 associates with transcriptional start sites of target genes and regulates important oncogenes such as FOS and JUN.
12800201	PRDM13	Overexpression	Medulloblastoma	In a consecutive analysis of serum antibody titers and tumor load, a more than 10-fold increase in serum antibodies against PRDM13 preceded the clinical diagnosis of recurrent tumor growth in a patient with aggressive large cell medulloblastoma.									
26902887	PRDM13	aberrant methylation	Prostate Carcinoma	Twenty-three CpGs were differentially methylated (FDR q�?.25, mean methylation difference�?.10) in patients with vs. without recurrence, including CpGs in GCK, CDKL2, PRDM13, and ZFR2.									
16036106	PRDM15	copy number loss	Pancreatic Carcinoma	Likewise, we identified novel polymerase chain reaction-validated homozygous deletions indicating new candidate TSGs at 6q25, 8p23, 8p22 (TUSC3), 9q33 (TNC, TNFSF15), 10q22, 10q24 (CHUK), 11p15 (DKK3), 16q23, 18q23, 21q22 (PRDM15, ANKRD3), and Xp11.									
23616578	PRDM15 	Overexpression	Lymphoma	Using this approach, we have uncovered a unique metabolic gene signature of human macrophages and identified PRDM15 as a novel overexpressed gene in human lymphomas.									
25935441	PRDM7	copy number gain	Li-Fraumeni Syndrome	In saliva, three rare CNVs were detected, all of them were also detected in the blood cells: loss of 8q24.11 (EXT1), gain of 16q24.3 (PRDM7 and GAS8), and the mosaic loss of the X chromosome (50% of cells).									
25136067	PRMT7	Overexpression	Breast Carcinoma	In this report, we show that PRMT7 is expressed at higher levels in breast carcinoma cells and that elevated PRMT7 mediates EMT and metastasis.				YY1; HDAC3	Interaction	Moreover, PRMT7 interacted with YY1 and HDAC3 and was essential to link these proteins to the E-cadherin promoter.	E-cadherin	negative regulation	PRMT7 could inhibit the expression of E-cadherin by binding to its proximal promoter in a manner associated with altered histone methylation, specifically with elevated H4R3me2s and reduced H3K4me3, H3Ac, and H4Ac, which occurred at the E-cadherin promoter upon EMT induction.
25605249	PRMT7	Overexpression	Breast Carcinoma	Here we report that PRMT7 expression is significantly upregulated in both primary breast tumour tissues and in breast cancer lymph node metastases.							MMP9	positive regulation	Furthermore, we show that PRMT7 induces the expression of matrix metalloproteinase 9 (MMP9), a well-known mediator of breast cancer metastasis.
25388207	PRMT8	loss of expression	Glioblastoma	PRMT8 is almost entirely absent in human glioblastoma tissues.									
20514431	PYGO1	Overexpression	Villous Adenoma	Genes involved in canonical Wnt (beta-catenin) signaling with increased expression in villous adenomas included wnt1, fz2, csnk2A2, pygo2, pygo1, frat2 and myc, the latter confirmed by qRT-PCR and IHC.									
24382738	SETD1B	Mutation	Polycythemia Vera	Complex karyotype in a polycythemia vera patient with a novel SETD1B/GTF2H3 fusion gene.				GTF2H3	Fusion	Complex karyotype in a polycythemia vera patient with a novel SETD1B/GTF2H3 fusion gene.			
24670651	SETD1B	genetic alteration	Esophageal Squamous Cell Carcinoma	Moreover, we have found that several important histone regulator genes (MLL2 (also called KMT2D), ASH1L, MLL3 (KMT2C), SETD1B, CREBBP and EP300) are frequently altered in ESCC.									
24925220	SETD1B	loss of expression (mutation)	Gastric Carcinoma; Colorectal Carcinoma	Frameshift mutation of a histone methylation-related gene SETD1B and its regional heterogeneity in gastric and colorectal cancers with high microsatellite instability.; Loss of SETD1B expression was identified in 15% to 55% of the GC and CRC with respect to the MSI status.									
24738023	SETD4	Overexpression	Breast Carcinoma	Quantitative real-time PCR (qPCR) showed elevated expression levels of SETD4 in several breast cancer cell lines.							Cyclin D1	positive regulation	Furthermore, western blot analysis showed that knockdown of SETD4 decreased cyclin D1 expression, revealing the involvement of SETD4 in cell cycle regulation.
25189356	SETD5	Mutation	Prostate Carcinoma	From this genome-wide approach, mutations were found in a series of genes with prostate cancer relevance, including AR, NCOR1, KDM3A, KDM4A, CHD1, SETD5, SETD7, INPP4B, RASGRP3, RASA1, TP53BP1, and CDH1, and a novel SND1:BRAF gene fusion.									
21151023	SETDB2	copy number loss	Chronic Lymphocytic Leukemia	Deletion of a 1Mb gene cluster (48.2-49.2Mb), including SETDB2, PHF11 and RCBTB1, was significantly associated (P<0.01) with disease progression.									
24925220	SETDB2	loss of expression (mutation)	Gastric Carcinoma; Colorectal Carcinoma	We analyzed the mutations in 76 GCs and 93 CRCs and found SETD1B (38.7% of GC and 35.6% of CRC with high MSI [MSI-H]), SETDB2 (11.1% of CRC with MSI-H), and SETD2 frameshift mutations (6.7% of CRC with MSI-H). Of note, the loss of expression was more common in those with SETD1B mutations than those with wild-type SETD1B. 									
27572307	SETDB2	Overexpression	Gastric Carcinoma	SETDB2 protein was highly expressed in 30 of 72 (41.7%) primary GC tissues compared with their normal counterparts by immunohistochemistry.							WWOX; CADM1	negative regulation	Microarray analysis indicated that expression of WWOX and CADM1, tumor suppressor genes, was significantly enhanced in MKN74 cells after SETDB2 knockdown.
23030715	SMARCC2	Mutation	Gastric Carcinoma; Colorectal Carcinoma	Frameshift mutations of a chromatin-remodeling gene SMARCC2 in gastric and colorectal cancers with microsatellite instability.									
22722201	SMARCD1	Mutation	Breast Carcinoma	Driver mutations were identified in several new cancer genes including AKT2, ARID1B, CASP8, CDKN1B, MAP3K1, MAP3K13, NCOR1, SMARCD1 and TBX3.									
25503559	SMARCD1	Overexpression	Gastric Carcinoma	SMARCD1 was markedly upregulated in gastric cancer in which its high expression was associated with shortened patients' survival independent of TNM staging.									
11147808	SMARCD2	Mutation	Breast Carcinoma	LOH has also been reported in breast and ovarian cancer within 17q12-25, a gene-rich area including BRCA1, BAF60B, and BAF57.									
15226608	SMARCD2	Overexpression	Esophageal Squamous Cell Carcinoma	The common upregulated genes in well and poorly differentiated cell types at both irradiation doses included SCYA5, CYP51, SMARCD2, COX6C, MAPK8, FOS, UBE2M, RPL6, PDGFRL, TRAF2, TNFAIP6, ITGB4, GSTM3, and SP3 and common downregulated genes involved NFIL3, SMARCA2, CAPZA1, MetAP2, CITED2, DAP3, MGAT2, ATRX, CIAO1, and STAT6.									
15101045	SMARCD3	overexpression	Neuroblastoma	The expression of both the BIRC3 and CDKN2D genes was significantly higher in the early-stage group than in the advanced-stage group (P = 0.002 and 0.003, respectively), whereas the expression of the SMARCD3 gene was significantly reduced in the early-stage group (P = 0.02).									
15384172	SMARCD3	Overexpression	T Acute Lymphoblastic Leukemia	We focused on examining genes found to be up-regulated according to the microarray analysis and selected three putative target genes, NFKB2, SMARCD3, and NR4A3, for further investigation.									
18335753	SP140	Overexpression	Laryngeal Squamous Cell Carcinoma	Thirteen proteins were preliminarily identified, naming which 10 proteins were upregulated in laryngeal cancer tissue. Such as cofilin-1, nuclear body protein SP140, GRP94, HSP 90, GSTP1-1, superoxide dismutase [Mn], cyclophilin A, proteasome activator complex subunit 2, apolipoprotein A-I precursor, CaM-like protein and so on.									
20731705	SP140	Mutation	Chronic Lymphocytic Leukemia	Polymorphisms in SP140 and ACOXL were also associated with risk of CLL.									
22235315	SP140	SNP	Chronic Lymphocytic Leukemia	Sixteen SNPs were identified that are linked to differential expression of SP140, a putative tumor suppressor gene previously associated with CLL/SLL.									
22395470	SP140	Hypermethylation	Chronic Myelomonocytic Leukemia	We found that two non-CpG island promoters, AIM2 and SP140, were hypermethylated in patients with mutant TET2.	TET2	regulation	We found that two non-CpG island promoters, AIM2 and SP140, were hypermethylated in patients with mutant TET2.						
23708256	SP140	copy number loss	Chronic Lymphocytic Leukemia	Further, we found amplification of IRF4 and deletion of the SP140/SP100 genes; these genes have been reported as CLL-associated genes by previous genome-wide-association study.									
24429703	SP140	Mutation	Plasma Cell Myeloma	We identify new candidate genes, including truncations of SP140, LTB, ROBO1 and clustered missense mutations in EGR1.									
18281482	STK31	Overexpression	Colorectal Carcinoma	Reverse transcription-PCR analysis showed that STK31 gene expression levels in cancer samples were significantly higher (P < 0.0001) than those in normal samples.									
21097718	STK31	Mutation	Gastric Carcinoma	When applied to primary GCs, we identified somatic mutations in 8 kinases, 4 of which were recurrently altered in both primary tumors and cell lines (MAP3K6, STK31, FER, and CDKL5).									
24667656	STK31	Overexpression	Colorectal Carcinoma	Here, we demonstrate that STK31 is overexpressed in many human colorectal cancer cell lines and tissues.				Pericentrin	Colocalization	STK31 co-localizes with pericentrin in the centrosomal region throughout all phases of the cell cycle.			
24755198	STK31	Mutation	Melanoma	Third, we identified 12 significantly mutated genes in pan-negative samples (ALK, STK31, DGKI, RAC1, EPHA4, ADAMTS18, EPHA7, ERBB4, TAF1L, NF1, SYK, and KDR), including five genes (RAC1, ADAMTS18, EPHA7, TAF1L, and NF1) with a recurrent mutation in at least two pan-negative tumor samples.									
17693662	SUV39H2	Mutation	Lung Carcinoma	Previously, we reported that a novel polymorphism of SUV39H2, the HMT that is required for the methylation of H3-K9, was associated with an increased risk of lung cancer in Koreans.									
23504335	SUV39H2	Overexpression	Oral Cavity Squamous Cell Carcinoma	Our result suggests that overexpressions of histone modification-related proteins-ARK2, G9a, EZH2, and SUV39H1 but not SUV39H2 are associated with prognosis of OSCC in the male population of Taiwan.									
24200674	SUV39H2	Overexpression	Prostate Carcinoma	SMYD3, SUV39H2, PRMT6, KDM5A, and KDM6A were upregulated, whereas KMT2A-E (MLL1-5) and KDM4B were downregulated in PCa, compared with normal prostate tissues.									
24433164	SUV39H2	Underexpression	Thrombocytopenia Due to Immune Destruction	The expression of EZH2 and SUV39H2 were significantly down-regulated in active ITP patients, when compared with ITP in remission and controls.									
24966962	SUV39H2	Overexpression	Hepatocellular Carcinoma	RT-qPCR data showed four of twenty-four genes over eightfold up-regulated in tumor tissues: e.g., histone phosphorylation gene-ARK2, methylation genes-G9a, SUV39H2, and EZH2 (n=50, all p<0.0001).									
24007313	TAF1L	Mutation	Oral Cavity Squamous Cell Carcinoma	We further identified 515 significantly mutated genes (SMGs) and 156 tumor-specific disruptive genes (TDGs), with six genes in both sets, including ANKRA2, GTF2H5, STOML1, NUP37, PPP1R26, and TAF1L. 									
24755198	TAF1L	Mutation	Melanoma	Third, we identified 12 significantly mutated genes in pan-negative samples (ALK, STK31, DGKI, RAC1, EPHA4, ADAMTS18, EPHA7, ERBB4, TAF1L, NF1, SYK, and KDR), including five genes (RAC1, ADAMTS18, EPHA7, TAF1L, and NF1) with a recurrent mutation in at least two pan-negative tumor samples.									
26873642	TAF1L	Mutation	Malignant Urinary System Neoplasm	Tissue of the case with 11.5 month SD harbored a missense mutation of mTOR (E1813D), the nonsense mutation Q527STOP of TSC1, HER3 and TAF1L missense mutations.									
27718532	TCF19	SNP	Plasma Cell Myeloma	The SNPs rs13409 (located in the 3'UTR of the POU5F1 gene), rs1419881 (TCF19), rs1049633, rs1049623 (both in DDR1) showed significant associations with MM risk.									
26247633	TRIM66	Overexpression	Osteosarcoma	Here, TRIM66 expression level was higher in osteosarcoma tissues than in normal tissues.									
26599082	TRIM66	Overexpression	Non-Small Cell Lung Carcinoma	In an effort to profile the expression patterns of TRIM superfamily in several non-small cell lung cancer (NSCLC) cell lines, we found that the expression of 10 TRIM genes including TRIM3, TRIM7, TRIM14, TRIM16, TRIM21, TRIM22, TRIM29, TRIM59, TRIM66 and TRIM70 was significantly upregulated in NSCLC cell lines compared with the normal human bronchial epithelial (HBE) cell line, whereas the expression of 7 other TRIM genes including TRIM4, TRIM9, TRIM36, TRIM46, TRIM54, TRIM67 and TRIM76 was significantly down-regulated in NSCLC cell lines compared with that in HBE cells.									
16669872	TTF2	abnormal cytoplasmic accumulation	Thyroid Gland Carcinoma	Also, abnormal cytoplasmic accumulation of TTF2 and Pax8 was detected in many tumors samples, which may indicate a subtle regulation mechanism on the function of these transcription factors.									
23022474	TTF2	SNP	Thyroid Gland Carcinoma	Single nucleotide polymorphism (SNP) within the 5'-UTR of the FOXE1 (TTF2) gene is associated with thyroid cancer risk.									
26356687	TTF2	SNP	Thyroid Gland Papillary Carcinoma	Similarly, the rs965513 on the TTF2 can also elevate the risk of PTC significantly (GA vs GG, OR=1.67, 95% CI=1.07-2.59; AA+GA vs AA, OR=1.37, 95% CI=1.09-1.82; A vs G, OR=1.29, 95% CI=1.05-1.59). 									
18447972	UTY	Overexpression	Intestinal Type Sinonasal Adenocarcinoma	Also gains of PIK3CA, UTY, and RELA correlated with poor clinical outcome.									
27533081	UTY	copy number loss	Bladder Urothelial Carcinoma	UTY copy number loss was detected in 8 male patients (22.8%, 8/35).									
27114374	ZBTB38	Mutation	Mucinous Neoplasm	Its genome harboured 28 somatic non-silent mutations (27 missense and 1 nonsense) that included eight putative driver gene mutations catalogued in COSMIC database (KRAS, GNAS, ZBTB38, ENAM, HTR5A, BAI1, ADAMTS8 and RASA3).									
21765466	ZBTB4	Underexpression	Breast Carcinoma	We have observed that ZBTB4 (zinc-finger and BTB domain containing 4) is downregulated in breast cancer patients, and that its expression is significantly correlated with relapse-free survival.									
23251453	ZBTB4	Underexpression	Breast Carcinoma	ZBTB4 is downregulated in breast cancer and modulates p53 responses.				MTG16	binding	The zinc finger domains of Kaiso as well as ZBTB4 and ZBTB38 bound MTG16 and the association with Kaiso was confirmed using co-immunoprecipitation.			
26501111	ZBTB4	genetic alteration	Prostate Carcinoma	We confirm alterations in six genes previously associated with prostate cancer (MAP3K7, MELK, RCBTB2, ELAC2, TPD52, ZBTB4), and also identify 94 genes not previously linked to prostate cancer progression that would not have been detected using either transcript or copy number data alone.									
26429724	ZMYM5	SNP	Prostate Carcinoma	Second, four of these genes (GNL3, MAT1A, SKA3, and ZMYM5) harbored SNPs associated with aggressive tumorigenesis in the PLCO/CGEMS GWAS of 1172 PC patients.									
11888892	ZMYND8	Mutation	Colorectal Carcinoma	Examination of 29 previously untested coding polyadenines revealed widespread mutations in MMR-deficient colorectal cancers, with the highest frequencies in ERCC5, CASP8AP2, p72, RAD50, CDC25, RECQL1, CBF2, RACK7, GRK4, and DNAPK (range, 10-33%).									
23667654	ZMYND8	Mutation	Acute Erythroid Leukemia	A ZMYND8-RELA fusion was ranked first.				RELA	Fusion	A ZMYND8-RELA fusion was ranked first.			
25117453	ZMYND8	Overexpression	Prostate Carcinoma	Using transcriptome analyses, we found upregulation of ZMYND8 expression in both zebrafish prostate cancer xenografts and prostate cancer samples from patients.							Vegfa	positive regulation	Notably, ZMYND8 induced vegfa mRNA expression selectively in prostate cancer xenografts.
27473587	C14orf169	overexpression	Colorectal Carcinoma	NO66 was selectively expressed in CRC tissues. Furthermore, high expression levels of NO66 were associated with cancer metastatic potential, including lymphatic duct invasion (p = 0.047), venous invasion (p = 0.033), and lymph node metastasis (p = 0.015).	 	 		c-MYC; EZH2	interaction	Suzuki et al. reported that NO66 interacts with the oncogenic transcription factor c-MYC and promotes the c-MYC-centered oncogenic transcriptional program.16 Another study also demonstrated that NO66 interacts with enhancer of zeste homolog 2 (EZH2), a crucial component of the oncogenic polycomb repressive complex 2 (PRC2), and coordinately regulates target genes in embryonic stem cells.	 		
17308053	C14orf169	overexpression	Lung Carcinoma 	Through genome-wide expression profile analysis for non-small cell lung cancers (NSCLC), we found overexpression of a Myc-associated protein with JmjC domain (MAPJD) gene in the great majority of NSCLC cases.				MYC	interaction	Through interaction with MYC protein, MAPJD transactivates a set of genes, including kinases and cell signal transducers that are possibly related to proliferation of lung cancer cells.	 SBNO1; TGFBRAP1; RIOK1; RASGEF1A	positive regulation	We found four candidate MAPJD target genes, SBNO1, TGFBRAP1, RIOK1, and RASGEF1A, which were the most significantly induced by exogenous MAPJD expression.