Table 5.
Mutation in chromatin-modifying genes in human cancers
| Gene | Function of gene product | Cancer type | Frequency (%) | References |
|---|---|---|---|---|
| Inactivating mutation |
||||
| BRG1/SMARCA4 | SWI/SNF catalytic subunit | Non-small-cell lung carcinoma | 35 | [54] |
| Lung adenocarcinoma | 10 | [55] | ||
| Burkitt lymphoma | 15 | [56] | ||
| Medulloblastoma | 4–13 | [57–59] | ||
| Esophageal cancer | 6 | [60] | ||
| Lung cancer (reduced expression) | 15–50 | [61–63] | ||
| BRM/SMARCA2 | SWI/SNF catalytic subunit | Lung cancer (reduced expression) | 38–75 | [61–63] |
| Gastric cancer (reduced expression) | 42 | [66] | ||
| Prostate cancer (reduced expression) | [67] | |||
| SNF5/SMARCB1/BAF47/INI1 | SWI/SNF core regulatory subunit | Rhabdoid tumor | 98 | [68, 69] |
| Meningioma | [70, 71] | |||
| Shwannoma | [70, 72] | |||
| ARID1A/BAF250A | SWI/SNF variant regulatory subunit | Ovarian clear cell carcinoma | 46–57 | [75, 76] |
| Endometriosis-associated ovarian carcinoma | 30 | [75, 76] | ||
| Renal clear cell carcinoma | 34 | [77] | ||
| Burkitt lymphoma | 15 | [56] | ||
| Hepatocellular carcinoma | 13 | [78] | ||
| Transitional cell carcinoma of the bladder | 13 | [79] | ||
| Gastric cancer | 10 | [80] | ||
| Esophageal cancer | 8 | [60] | ||
| Serous endometrial cancer of uterine | 6 | [81] | ||
| Neuroblastoma | 6 | [82] | ||
| Pancreatic cancer | 4 | [83] | ||
| Malignant melanoma | 3 | [84] | ||
| Medulloblastoma | [85] | |||
| Lung adenocarcinoma | [55] | |||
| ARID1B/BAF250B | SWI/SNF variant regulatory subunit | Hepatocellular carcinoma | 11 | [78] |
| Neuroblastoma | 7 | [82] | ||
| Breast cancer | 4 | [86] | ||
| Malignant melanoma | 2 | [84] | ||
| ARID2/BAF200 | SWI/SNF variant regulatory subunit | Hepatocellular carcinoma | 6–11 | [78, 87] |
| Malignant melanoma | 7 | [84] | ||
| Esophageal cancer | 5 | [60] | ||
| PBRM1/BAF180 | SWI/SNF variant regulatory subunit | Renal clear cell carcinoma | 41 | [77] |
| Esophageal cancer | 3 | [60] | ||
| Breast cancer | [88] | |||
| CPB/CREBBP | H3H4 acetyltransferase | B-cell lymphoma | 40 | [89] |
| Acute lymphoblastic leukemia | 18 | [90] | ||
| Small-cell lung carcinoma | 17 | [91] | ||
| Transitional cell carcinoma of the bladder | 13 | [79] | ||
| Lung cancer | 10 | [92] | ||
| p300 | H3H4 acetyltransferase | Transitional cell carcinoma of the bladder | 13 | [79] |
| Small-cell lung carcinoma | 10 | [91] | ||
| Colorectal, breast and pancreatic cancer | [93] | |||
| MLL | H3K4 methyltransferase | Acute leukemia | 5–10 | [94] |
| Small-cell lung carcinoma | 10 | [91] | ||
| Transitional cell carcinoma of the bladder | 7 | [79] | ||
| SETD2 | H3K36 methyltransferase | Lung adenocarcinoma | 5 | [55] |
| UTX/KDM6A | H3K27 demethylase | Transitional cell carcinoma of the bladder | 21 | [79] |
| Various types of cancer | 3 | [99] | ||
| JARID1C/KDM5C | H3K4 demethylase | Renal carcinoma | 3 | [98] |
| Activating mutation |
||||
| EZH2 | H3K27 methyltransferase | Diffuse large B-cell lymphoma (germinal center type) | 22 | [95] |
| Diffuse large B-cell lymphoma, other lymphomas | 15 | [96] | ||
| Follicular lymphoma | 7 | [95] | ||
| Myelodysplastic syndrome | 12 | [97] | ||
| Esophageal cancer | 3 | [60] |