Table 3.
Prevalence of mutation, LOH, and promoter hypermethylation in colorectal cancer.
| Genes | Mutation [%(proportion)] | LOH [%(proportion)] | Methylation [%(proportion)] |
|---|---|---|---|
| BRCA1 | 0.29% (16/5481) (152); 0.28% (3/1058) (153); 0.4% (2/450) (148); 4% (25/619) (154); 3.2% (17/534) (78) |
— | — |
| BRCA2 | 0.34% (5/1474) (152); 0.76% (8/1058) (153); 0.9% (4/450) (148); 6.8% (40/619) (154); 7.1% (38/534) (78) |
0.2% (1/592) (78) | 10.6% (8/78) (155) |
| RAD50 | 3.2% (18/619) (154) | 0.5% (3/592) (78) | — |
| RAD51 | 0.5% (3/619) (154) | 1.7% (10/592) (78) | — |
| RAD51B | 0.8% (5/619) (154) | 0.5% (3/592) (78) | — |
| RAD51C | 0.08% (1/1260) (156); 0.8% (5/619) (154) | – | — |
| RAD51D | 1% (6/619) (154) | 0.2% (1/592) (78) | — |
| PALB2 | 0.44% (3/680) (12); 0.19% (2/1058) (153); 0.4% (2/450) (148); 2.6% (16/619) (154); |
0.3 (3/592) (78) | — |
| FANCA | 3.1% (19/619) (154) | 0.7% (4/592) (78) | — |
| FANCD2 | 2% (1/50) (157); 4% (25/619) (154) | — | — |
| FANCF | 1.3% (8/619 (154) | 0.2% (1/592) (78) | — |
| FANCI | 2.1% (13/619) (154) | 0.2% (1/592) (78) | — |
| FANCM | 2% (1/50) (158); 5% (31/619) (154) | 2% (1/50) (158) | — |
| NBN/NBS1 | 0.2% (2/1058) (153); 3.2% (20/619) (154) | — | — |
| BARD1 | 0.1% (1/1058) (153); 2.33% (1/43) (159); 0.08% (1/1260) (153); 1.1% (7/619) (154) |
— | — |
| ATM | 0.74% (5/680) (12); 0.95% (10/1058) (153); 0.9% (4/450) (148); 10.3% (64/619) (154) |
0.74% (5/680) (12); 2.33% (1/43) (159) |
16.67% (13/78) (155) |
| ATR | 18.8% (9/48) (160); 4.5% (34/619) (154) | — | — |
| MRE11A | 0.3% (3/1006) (161); 2.6% (16/619) (154) | 0.2% (1/592) (78) | — |
| BRIP1 | 0.16% (2/1260) (156); 2.6% (16/619 (154) | — | — |
| XRCC1 | 1.8% (11/619) (154) | — | — |
| CHEK2 | 0.23% (1/430) (162); 0.4% (5/1260) (156); 2.65% (4/151) (163); 5.8% (36/619) (154) |
0.5% (3/592) (78) | — |
| EMSY | 3.2% (20/619) (154); | — | — |
| TP53 | 0.23% (1/430) (162); 0.1% (1/1058) (153); 0.66% (1/151) (163); 51.7% (320/619) (154) |
1.4% (8/292) (78) | — |
| STK11 | 0.08% (1/1260) (156); 0.8% (5/619) (154) | 0.5% (3/292) (78) | — |
| PTEN | 60% (87/146) (164); 8.2% (51/619) (154) | 23% (6/26) (164) | 11.86% (10 (165) (164) |
| CDH1 | 1.33% (2/151) (163); 2.9% (18/619) (154) | 0.2% (1/592) (78) | 17.7% (3/17) (166); 87% (53/61) (167) |
| CDK12 | 5.2% (32/619) (154) | — | — |
| BLM | 1.62% (3/185) (168); 1.9% (12/619) (154) | 50% (1/2) (168) | — |
| TP53BP1 | 6.3% (5/124) (169); 6.5% (40/619) (154) | 1.5% (9/592) (78) | — |
| ERCC1 | 0.8% (5/619) (154) | 28.3% (43/152) (158) | — |
| RBBP8 | 1.6% (6/619) (154) | 0.2% (1/592) (78) | — |
| MAD2L2/REV7 | 1% (6/619) (154) | 0.5% (3/592) (78) | — |
| XRCC5/Ku80 | 1.4% (9/619) (154) | — | — |
| XRCC6/Ku70 | 2.1% (13/619) (154) | — | — |
| SLFN11 | 2.4% (15/619) (154) | 0.2% (1/592) (78) | 55.47% (71/128) (170) |
“—” no report found, “LOH” loss of heterozygosity.