Skip to main content
. Author manuscript; available in PMC: 2014 Sep 4.
Published in final edited form as: Pharmacol Ther. 2012 Nov 16;138(1):1–17. doi: 10.1016/j.pharmthera.2012.11.002

Table 1.

Genetic Factors Which Control Epigenetic Modifications

S.No Gene Epigenetic Modifications Function Tumor Type Alteration References
1. ASXL Histone Modification Enhancer of trithorax and polycomb group (EAP) Additional sex combs like 1 Bohring-Opitz Syndrome, MDS and AML Mutation (Hoischen A, van Bon BW et al. 2011; Gelsi-Boyer V, Brecqueville M et al. 2012)
2. BMI-1 Histone Modification PRC1 subunit Ovarian, mantle cell lymphomas and Merkel cell carcinomas Overexpression (Jiang L, Li J et al. 2009; Lukacs RU, Memarzadeh S et al. 2010)
3. BRD4 Histone modification Bromodomain containing 4 Midline carcinoma, nuclear protein in testis, breast, colon, and AML Translocation (fusion protein), aberrant expression (Filippakopoulos P, Qi J et al. 2010; Zuber J, Shi J et al. 2011)
4. CREBBP Histone Modification Histone acetyltransferase Colorectal, epithelial, gastric and ovarian, lung, esophageal cancer Mutation, overexpression (Miremadi A, Oestergaard MZ et al. 2007)
5. EP300 Histone Modification Histone deacetyltransferase Colorectal, breast, pancreatic cancer Mutation (Miremadi A, Oestergaard MZ et al. 2007)
6. EZH2 Histone Modification Histone methyltransferase H3K27 Colon, pancreas, liver, gastric, uterine tumors, breast, prostate, bladder, melanoma, lymphoma, myeloma, and Ewing’s sarcoma Mutation, aberrant expression (Chase A and Cross NC 2011; Tsang DP and Cheng AS 2011)
7. G9a Histone Modification Histone methyltransferase H3K9 Cervical, uterine, HCC, ovarian, and breast cancer Aberrant expression (Varier RA and Timmers HT 2011)
8. HDAC2 Histone Modification Histone deacetyltransferase Gastric, Colonic, endometrial cancer Mutation (Ropero S, Fraga MF et al. 2006)
9. JARID1B/C Histone Modification Histone demethylase H3K4/H3K9 RCCC, testicular and breast, Overexpression (Rotili D 2011)
10. LSD1 Histone Modification Histone demethylase H3K4/H3K9 Prostate Mutation (Rotili D 2011)
11. MLL1/2/3 Histone modification Histone methyltransferase H3K4 Non-Hodgkin lymphoma, B cell lymphoma, Bladder TCC, ALL and AML, prostate (primary) Mutation, translocation, aberrant expression (Morin RD, Mendez-Lago M et al. 2011; Yaoting Gui, Guangwu Guo et al. 2011)
12. PCAF Histone Modification Histone acetyltransferase Epithelial Mutation (Miremadi A, Oestergaard MZ et al. 2007)
13. PRMT1/5 Histone Modification Protein arginine methyltransferase Breast/gastric Aberrant expression (Miremadi A, Oestergaard MZ et al. 2007)
14. SIRT1, HDAC5/7A Histone modification Histone deacetyltransferase Colorectal, breast, prostate cancer Mutation, aberrant expression (Miremadi A, Oestergaard MZ et al. 2007)
15. UTX (KDM6A) Histone Modification Histone demethylase H3K27 Breast, kidney, lung, pancreas, bladder, esophagus, colon, uterus, brain Mutation (Rotili D 2011)
16. AID DNA methylation 5’cytidine deaminase CML Aberrant expression (De Carvalho DD, You JS et al. 2010)
17. DNMT1 DNA methylation DNA methyltransferase Pancreatic, gastric, breast, colorectal, non-small cell lung cancer Mutation, Overexpression (Kanai Y, Ushijima S et al. 2003; Wu SC and Zhang Y 2010)
18. DNMT3A DNA methylation DNA methyltransferase MDS, AML Mutation (Ley TJ, Ding L et al. 2010; Yamashita Y, Yuan J et al. 2010)
19. DNMT3B DNA methylation DNA methyltransferase ICF syndrome, SNPs in breast and lung adenoma Mutation (Wijmenga C, Hansen RS et al. 2000; Shen H, Wang L et al. 2002)
20. IDH1/2 DNA methylation Isocitrate dehydrogenase Glioma, AML Mutation (Figueroa ME, Abdel-Wahab O et al. 2010; Lu C, Ward PS et al. 2012)
21. MBD1/2 DNA methylation Methyl binding protein Breast and lung cancer Mutation (Sansom OJ, Maddison K et al. 2007)
22. TET1 DNA methylation 50methylcytosine hydroxylase AML Chromosome translocation (De Carvalho DD, You JS et al. 2010; Wu SC and Zhang Y 2010)
23. TET2 DNA methylation 50methylcytosine hydroxylase Myeloid malignancies (AML), MDS, gliomas Mutation/silenc ing (Tan AY and Manley JL 2009)
24. ARID1A (BAF250A) Chromatin remodeling BAF subunit Carcinomas, endometrial carcinomas, ovarian clear cell carcinomas, 30% of endometrioid Mutation, genomic rearrangement, low expression (Jones S, Wang TL et al. 2010; Guan B, Mao TL et al. 2011)
25. ARID2 (BAF200) Chromatin remodeling PBAF subunit Primary pancreatic adenocarcinomas Mutation (Li M, Zhao H et al. 2011)
26. BRD7 Chromatin remodeling PBAF subunit Bladder TCC Mutation (Drost J, Mantovani F et al. 2010)
27. BRG1(SMA CA4) Chromatin remodeling ATPase of BAF Lung, rhabdoid, medulloblastoma Mutation, low expression (Wilson BG and Roberts CW 2011)
28. BRM (SMARCA2) Chromatin remodeling ATPase of BAF Prostate, basal cell carcinoma Mutation, low expression (Sun A, Tawfik O et al. 2007; de Zwaan SE and Haass NK 2010)
29. CHD4/5 Chromatin remodeling ATPase of NURD Gastric and colorectal cancer, ovarian, prostate, neuroblastoma Mutation (Bagchi A, Papazoglu C et al. 2007; Kim MS, Chung NG et al. 2011; Wang J, Wu Z et al. 2012)
30. CHD7 Chromatin remodeling ATP-dependent helicase Gastric and colorectal Mutation (Wessels K, Bohnhorst B et al. 2010)
31. P400/Tip60 Chromatin remodeling ATPase of SWR1, acetylase of SWR1 lymphomas, colon, head-and-neck, breast Mutation, aberrant expression (Mattera L, Escaffit F et al. 2009)
32. PBRM1 (BAF180) Chromatin remodeling PBAF subunit Breast tumor Mutation (Varela I, Tarpey P et al. 2011)
33. SNF5 (SMARCB1, INI1) Chromatin remodeling Gastric and colorectal Kidney malignant rhabdoid tumors, atypical rhabdoid/teratoid tumors (extra-renal), epithelioid sarcomas, small cell hepatoblastomas, extraskeletal myxoid chondrosarcomas, and undifferentiated sarcomas Mutation, silencing, loss of expression (Wilson BG and Roberts CW 2011)
34. SRCAP Chromatin remodeling ATPase of SWR1 Prostate Aberrant expression (Balakrishnan A, Bleeker FE et al. 2007)