From: The mutational landscape of chromatin regulatory factors across 4,623 tumor samples
Gene | Literature evidence |
---|---|
ARID1A | Mutated in cc ovarian carcinoma and RCC (CGC), bladder [25], HCC [26], endometrium [27], colorectal [28], gastric adenocarcinoma [29], pancreatic cancer [30], lung adenocarcinoma [31], Burkitt lymphoma [32] and aggressive neuroblastoma [33]. |
Down-regulated in aggressive breast cancer [34], | |
KMT2C | Mutated in medulloblastoma (CGC), HCC [26], bladder [25], prostate cancer [35], colorectal cancer [36], gastric adenocarcinoma [29], NSCLC [37], breast cancer [38] and pancreatic cancer [30]. |
Deleted in leukemia [39]. | |
DNMT3A | Mutated in AML (CGC), ALL and lung cancer [40]. |
Over-expressed in ovarian aggressive tumors [41]. | |
KDM6A | Mutated in kidney, esophageal squamous cell carcinoma, multiple myeloma (CGC), lung cancer [42], medulloblastoma [43], ccRCC [44], bladder [25] and prostate [35]. |
Over-expressed in breast tumors with poor prognosis [45]. | |
Deleted in lung cancer [46]. | |
PBRM1 | Mutated in ccRCC, breast (CGC) and pancreatic cancer [47]. |
NSD1 | Mutated in AML (CGC) and NMSC [10]. |
Gained in lung adenocarcinoma of never-smokers [48]. | |
TET2 | Mutated in MDS (CGC), CMML and AML [49]. |
SETD2 | Mutated in ccRCC (CGC). |
Down-regulated in breast tumors [50]. | |
SMARCA4 | Mutated in NSCLC (CGC), lung adenocarcinoma [31], medulloblastoma [43] and Burkitt lymphoma [32]. |
Over-expressed in glioma [51] and in melanoma progression [52]. | |
Gained in lung [42]. | |
KMT2D | Mutated in medulloblastoma, bladder [25], renal cancer (CGC), DLBCL [53]. |
Over-expressed in breast and colon tumors [54]. | |
CHD4 | Mutated in high MSI gastric and colorectal cancers [55]. |
Down-regulated in gastric and colorectal cancers [55]. | |
NCOR1 | |
Down-regulated in aggressive breast tumors [57]. | |
EP300 | Mutated in colorectal, breast and pancreatic cancers, ALL, AML, DLBCL (CGC), bladder [25], SCLC [58] and endometrium [27]. |
Up-regulated in esophageal squamous cell carcinoma [59] and advanced HCC [60]. | |
Loss of heterozygosity in glioblastoma [61]. | |
KDM5C | Mutated in ccRCC (CGC). |
ARID2 | Mutated in hepatocellular carcinoma (CGC), melanoma [62], NSCLC [63] and pancreatic cancer [30]. |
Deleted in NSCLC [63]. | |
ATF7IP | - |
ASXL1 | Mutated in MDS and CMML (CGC), myeloproliferative neoplasm; [64], AML with myelodysplasia-related changes [65] and castration-resistant prostate cancer [66]. |
MLL | Mutated in AML, ALL (CGC), bladder [25], SCLC [58], HCC [26] and gastric tumors [29]. |
BAZ2A | Over-expressed in CLL [67]. |
CHD3 | Mutated in high MSI gastric and colorectal cancers [55]. |
ATRX | Mutated in pediatric glioblastoma, neuroendocrine pancreatic tumors (CGC) and high grade adult gliomas [68]. |
ARID1B | Mutated in breast tumors [56]. |
MBD1 | Over-expressed in pancreatic cancer [69]. |
BAP1 | Mutated in uveal melanoma, breast, NSCLC and RCC (CGC). |
Over-expressed in NSCLC with good prognosis [70]. | |
INO80 | - |
CHD2 | Mutated in high MSI gastric and colorectal cancers [55] and CLL [71]. |
Down-regulated in relapsed colon cancer [72]. | |
ARID4A | - |
DOT1L | - |
ASH1L | Mutated in lung cancer cell lines [42]. |
Gained in hepatocellular carcinoma [73]. | |
BPTF | Gained in neuroblastoma and lung cancer [74]. |
RTF1 | - |
PHC3 | Mutated and lost in osteosarcoma [75]. |
SMARCA2 | |
Down-regulated in lung adenocarcinoma [78] and gastric cancer [79]. | |
Amplified in AML [80]. | |
SETDB1 | Recurrently amplified and over-expressed in melanoma [81]. |