Table 1.
Mutations in SWI/SNF components reported in TCGA publications.
| Gene | Cancer type | Data source | No. of mutations | No. of total | % of mutations |
|---|---|---|---|---|---|
| ACTL6A | Breast | Breast Cancer Patient Xenografts (British Columbia, Nature 2014) | 8 | 116 | 6.9% |
| ACTL6B | Melanoma | Cutaneous Melanoma (Yale, Nature Genetics 2012) | 4 | 91 | 4.4% |
| ACTB | Breast | Breast Cancer Patient Xenografts (British Columbia, Nature 2014) | 7 | 29 | 24.1% |
| Stomach | Stomach Adenocarcinoma (TCGA, Nature 2014) | 24 | 286 | 8.4% | |
| Lung | Lung Adenocarcinoma (TCGA, Nature 2014) | 18 | 231 | 7.8% | |
| Bladder | Bladder Urothelial Carcinoma (TCGA, Nature 2014) | 9 | 127 | 7.1% | |
| Bladder Urothelial Carcinoma (BGI, Nature Genetics 2013) | 7 | 99 | 7.1% | ||
| Adenoid | Adenoid Cystic Carcinoma (MSKCC, Nature Genetics 2013) | 4 | 60 | 6.7% | |
| Nerve | Malignant Peripheral Nerve Sheath Tumor (MSKCC, Nature Genetics 2014) | 1 | 15 | 6.7% | |
| Prostate | Prostate Adenocarcinoma, Metastatic (Michigan, Nature 2012) | 4 | 61 | 6.6% | |
| Lung | Lung Adenocarcinoma (Broad, Cell 2012) | 8 | 182 | 4.4% | |
| Melanoma | Melanoma (Broad/Dana Farber, Nature 2012) | 1 | 25 | 4.0% | |
| ACTL6A | Breast | Breast Cancer Patient Xenografts (British Columbia, Nature 2014) | 8 | 116 | 6.9% |
| ACTL6B | Melanoma | Cutaneous Melanoma (Yale, Nature Genetics 2012) | 4 | 91 | 4.4% |
| ARID1A | Bladder | Bladder Urothelial Carcinoma (BGI, Nature Genetics 2013) | 15 | 99 | 15.2% |
| Bladder Cancer (MSKCC, Eur Urol 2014) | 31 | 109 | 28.4% | ||
| Bladder Urothelial Carcinoma (TCGA, Nature 2014) | 33 | 130 | 25.4% | ||
| Cholangiocarcinoma | Intrahepatic Cholangiocarcinoma (Johns Hopkins University, Nature Genetics 2013) | 6 | 40 | 15.0% | |
| Cholangiocarcinoma (National Cancer Centre of Singapore, Nature Genetics 2013) | 4 | 15 | 26.7% | ||
| Cholangiocarcinoma (National University of Singapore,Nature Genetics 2012) | 1 | 8 | 12.5% | ||
| Colorectal | Colorectal Adenocarcinoma (Genentech, Nature 2012) | 5 | 72 | 6.9% | |
| Colorectal Adenocarcinoma (TCGA, Nature 2012) | 21 | 223 | 9.4% | ||
| Esophagus | Esophageal Adenocarcinoma (Broad, Nature Genetics 2013) | 13 | 146 | 8.9% | |
| Liver | Liver Hepatocellular Carcinoma (RIKEN, Nature Genetics 2012) | 3 | 21 | 14.3% | |
| Lung | Lung Adenocarcinoma (Broad, Cell 2012) | 15 | 183 | 8.2% | |
| Lung Adenocarcinoma (TCGA, Nature 2014) | 16 | 229 | 7.0% | ||
| Small Cell Lung Cancer (Johns Hopkins, Nature Genetics 2012) | 2 | 42 | 4.8% | ||
| Melanoma | Cutaneous Melanoma (Broad, Cell 2012) | 14 | 121 | 11.6% | |
| Cutaneous Melanoma (Yale, Nature Genetics 2012) | 7 | 91 | 7.7% | ||
| Melanoma (Broad/Dana Farber, Nature 2012) | 3 | 25 | 12.0% | ||
| Pancreas | Pancreatic Adenocarcinoma (ICGC, Nature 2012) | 4 | 100 | 4.0% | |
| Stomach | Stomach Adenocarcinoma (Pfizer and UHK, Nature Genetics 2014) | 18 | 100 | 18.0% | |
| Stomach Adenocarcinoma (TCGA, Nature 2014) | 90 | 289 | 31.1% | ||
| Stomach Adenocarcinoma (UHK, Nature Genetics 2011) | 6 | 22 | 27.3% | ||
| Stomach Adenocarcinoma (U Tokyo, Nature Genetics 2014) | 5 | 30 | 16.7% | ||
| Uterine | Uterine Corpus Endometrioid Carcinoma (TCGA, Nature 2013) | 83 | 248 | 33.5% | |
| ARID1B | Bladder | Bladder Urothelial Carcinoma (TCGA, Nature 2014) | 6 | 130 | 4.6% |
| Breast | Breast Invasive Carcinoma (Sanger, Nature 2012) | 5 | 100 | 5.0% | |
| Colorectal | Colorectal Adenocarcinoma (Genentech, Nature 2012) | 5 | 72 | 6.9% | |
| Colorectal Adenocarcinoma (TCGA, Nature 2012) | 9 | 225 | 4.0% | ||
| Lung | Small Cell Lung Cancer (CLCGP, Nature Genetics 2012) | 3 | 29 | 10.3% | |
| Melanoma | Cutaneous Melanoma (Broad, Cell 2012) | 5 | 122 | 4.1% | |
| Melanoma | Melanoma (Broad/Dana Farber, Nature 2012) | 2 | 25 | 8.0% | |
| Stomach | Stomach Adenocarcinoma (TCGA, Nature 2014) | 27 | 290 | 9.3% | |
| Stomach Adenocarcinoma (UHK, Nature Genetics 2011) | 2 | 22 | 9.1% | ||
| ARID2 | Bladder | Bladder Urothelial Carcinoma (TCGA, Nature 2014) | 12 | 130 | 9.2% |
| Colorectal | Colorectal Adenocarcinoma (Genentech, Nature 2012) | 4 | 71 | 5.6% | |
| Colorectal Adenocarcinoma (TCGA, Nature 2012) | 15 | 224 | 6.7% | ||
| Esophagus | Esophageal Adenocarcinoma (Broad, Nature Genetics 2013) | 8 | 145 | 5.5% | |
| Lung | Lung Adenocarcinoma (TCGA, Nature 2014) | 14 | 230 | 6.1% | |
| Small Cell Lung Cancer (Johns Hopkins, Nature Genetics 2012) | 2 | 42 | 4.8% | ||
| Melanoma | Cutaneous Melanoma (Broad, Cell 2012) | 11 | 121 | 9.1% | |
| Cutaneous Melanoma (Yale, Nature Genetics 2012) | 10 | 91 | 11.0% | ||
| Melanoma | Melanoma (Broad/Dana Farber, Nature 2012) | 1 | 25 | 4.0% | |
| Stomach | Stomach Adenocarcinoma (Pfizer and UHK, Nature Genetics 2014) | 5 | 100 | 5.0% | |
| Stomach Adenocarcinoma (TCGA, Nature 2014) | 22 | 289 | 7.6% | ||
| Uterine | Uterine Corpus Endometrioid Carcinoma (TCGA, Nature 2013) | 14 | 250 | 5.6% | |
| BCL11A | Colorectal | Colorectal Adenocarcinoma (Genentech, Nature 2012) | 3 | 71 | 4.2% |
| Glioblastoma | Glioblastoma (TCGA, Nature 2008) | 4 | 91 | 4.4% | |
| Lung | Lung Adenocarcinoma (Broad, Cell 2012) | 8 | 182 | 4.4% | |
| Melanoma | Cutaneous Melanoma (Broad, Cell 2012) | 12 | 121 | 9.9% | |
| Stomach | Stomach Adenocarcinoma (TCGA, Nature 2014) | 19 | 288 | 6.6% | |
| Stomach Adenocarcinoma (UHK, Nature Genetics 2011) | 1 | 22 | 4.5% | ||
| BCL11B | Colorectal | Colorectal Adenocarcinoma (Genentech, Nature 2012) | 7 | 72 | 9.7% |
| Melanoma | Skin Cutaneous Melanoma (Broad, Cell 2012) | 8 | 121 | 6.6% | |
| Melanoma (Broad/Dana Farber, Nature 2012) | 3 | 25 | 12.0% | ||
| HDAC1 | Melanoma | Melanoma (Broad/Dana Farber, Nature 2012) | 1 | 25 | 4.0% |
| HDAC2 | Cholangiocarcinoma | Cholangiocarcinoma (National University of Singapore,Nature Genetics 2012) | 1 | 8 | 12.5% |
| Colorectal | Colorectal Adenocarcinoma (Genentech, Nature 2012) | 3 | 71 | 4.2% | |
| Stomach | Stomach Adenocarcinoma (Pfizer and UHK, Nature Genetics 2014) | 4 | 100 | 4.0% | |
| PBRM1 | Bladder | Bladder Cancer (MSKCC, Eur Urol 2014) | 6 | 109 | 5.5% |
| Bladder Urothelial Carcinoma (TCGA, Nature 2014) | 9 | 130 | 6.9% | ||
| Head & neck | Head and Neck Squamous Cell Carcinoma (Broad, Science 2011) | 3 | 73 | 4.1% | |
| Cholangiocarcinoma | Intrahepatic Cholangiocarcinoma (Johns Hopkins University, Nature Genetics 2013) | 7 | 40 | 17.5% | |
| Kidney | Renal Clear Cell Carcinoma (TCGA, Nature 2013) | 153 | 424 | 36.1% | |
| Stomach | Stomach Adenocarcinoma (TCGA, Nature 2014) | 18 | 290 | 6.2% | |
| Stomach Adenocarcinoma (UHK, Nature Genetics 2011) | 1 | 22 | 4.5% | ||
| Uterine | Uterine Corpus Endometrioid Carcinoma (TCGA, Nature 2013) | 11 | 250 | 4.4% | |
| SYT1 | Melanoma | Cutaneous Melanoma (Broad, Cell 2012) | 13 | 121 | 10.7% |
| Cutaneous Melanoma (Yale, Nature Genetics 2012) | 5 | 91 | 5.5% | ||
| Melanoma (Broad/Dana Farber, Nature 2012) | 2 | 25 | 8.0% | ||
| SMARCA2 | Adenoid | Adenoid Cystic Carcinoma (MSKCC, Nature Genetics 2013) | 3 | 60 | 5.0% |
| Bladder | Bladder Urothelial Carcinoma (TCGA, Nature 2014) | 9 | 130 | 6.9% | |
| Colorectal | Colorectal Adenocarcinoma (Genentech, Nature 2012) | 4 | 71 | 5.6% | |
| Lung | Small Cell Lung Cancer (CLCGP, Nature Genetics 2012) | 2 | 29 | 6.9% | |
| Stomach | Stomach Adenocarcinoma (TCGA, Nature 2014) | 18 | 290 | 6.2% | |
| Uterine | Uterine Corpus Endometrioid Carcinoma (TCGA, Nature 2013) | 17 | 246 | 6.9% | |
| SMARCA4 | Bladder | Bladder Urothelial Carcinoma (BGI, Nature Genetics 2013) | 5 | 98 | 5.1% |
| Bladder Cancer (MSKCC, Eur Urol 2014) | 10 | 109 | 9.2% | ||
| Bladder Urothelial Carcinoma (TCGA, Nature 2014) | 11 | 129 | 8.5% | ||
| Cholangiocarcinoma | Cholangiocarcinoma (National Cancer Centre of Singapore, Nature Genetics 2013) | 1 | 15 | 6.7% | |
| Colorectal | Colorectal Adenocarcinoma (Genentech, Nature 2012) | 10 | 72 | 13.9% | |
| Esophagus | Esophageal Adenocarcinoma (Broad, Nature Genetics 2013) | 10 | 147 | 6.8% | |
| Lung | Lung Adenocarcinoma (Broad, Cell 2012) | 20 | 183 | 10.9% | |
| Lung Adenocarcinoma (TCGA, Nature 2014) | 13 | 228 | 5.7% | ||
| Medulloblastoma | Medulloblastoma (Broad, Nature 2012) | 4 | 93 | 4.3% | |
| Medulloblastoma (ICGC, Nature 2012) | 6 | 113 | 5.3% | ||
| Melanoma | Cutaneous Melanoma (Broad, Cell 2012) | 11 | 121 | 9.1% | |
| Cutaneous Melanoma (Yale, Nature Genetics 2012) | 5 | 91 | 5.5% | ||
| Melanoma (Broad/Dana Farber, Nature 2012) | 1 | 25 | 4.0% | ||
| Ovary | Small Cell Carcinoma of the Ovary (MSKCC, Nature Genetics 2014) | 11 | 12 | 91.7% | |
| Stomach | Stomach Adenocarcinoma (Pfizer and UHK, Nature Genetics 2014) | 9 | 100 | 9.0% | |
| Stomach Adenocarcinoma (TCGA, Nature 2014) | 18 | 290 | 6.2% | ||
| Uterine | Uterine Corpus Endometrioid Carcinoma (TCGA, Nature 2013) | 16 | 246 | 6.5% | |
| SMARCB1 | Colorectal | Colorectal Adenocarcinoma (Genentech, Nature 2012) | 4 | 71 | 5.6% |
| Stomach | Stomach Adenocarcinoma (TCGA, Nature 2014) | 11 | 289 | 3.8% | |
| SMARCC1 | Colorectal | Colorectal Adenocarcinoma (Genentech, Nature 2012) | 4 | 71 | 5.6% |
| Lung | Small Cell Lung Cancer (CLCGP, Nature Genetics 2012) | 2 | 29 | 6.9% | |
| Stomach | Stomach Adenocarcinoma (UHK, Nature Genetics 2011) | 1 | 22 | 4.5% | |
| SMARCC2 | Bladder | Bladder Urothelial Carcinoma (TCGA, Nature 2014) | 6 | 130 | 4.6% |
| Stomach | Stomach Adenocarcinoma (TCGA, Nature 2014) | 14 | 292 | 4.8% | |
| Stomach Adenocarcinoma (Pfizer and UHK, Nature Genetics 2014) | 5 | 100 | 5.0% | ||
| MPNST | Malignant Peripheral Nerve Sheath Tumor (MSKCC, Nature Genetics 2014) | 1 | 15 | 6.7% | |
| SMARCD1 | Colorectal | Colorectal Adenocarcinoma (Genentech, Nature 2012) | 3 | 71 | 4.2% |
| SMARCD2 | Colorectal | Colorectal Adenocarcinoma (Genentech, Nature 2012) | 5 | 72 | 6.9% |
| SMARCD3 | Colorectal | Colorectal Adenocarcinoma (Genentech, Nature 2012) | 3 | 71 | 4.2% |