Table 4.
Prevalence of mutation, LOH, and promoter hypermethylation in pancreatic cancer.
| Gene | Mutation [%(proportion)] | LOH [%(proportion)] | Methylation [%(proportion)] |
|---|---|---|---|
| BRCA1 | 42.7% (87/204) (179); 2.4% (1/42) (180); 0.3% (1/332) (181); 2.4% (15/615) (177); 0.6% (18/3,030) (178); 1.34% (4/298) (176); 0.4% (3/854) (182); 1.3% (5/456) (183) |
20% (10/50) (177); 50% (2/4) (184); 2% (2/100) (185) |
8.3% (1/12) (186); 70.6% (12/17) (186); 34.3% (12/35) (186); 60.3% (35/58) (186); 46% (22/48) (187) |
| BRCA2 | 57.3% (117/204) (179); 26.2% (11/42) (180); 2.11% (7/332) (181); 5.7% (35/615) (177); 1.9% (59/3,030) (178); 1.34% (4/298) (176); 1.41% (12/854) (182); 5.56% (3/54) (188); 0.8% (5/638) (189); 2.1 (8/456) (183) |
40% (20/50) (177); 75% (3/4) (184); 6% (6/100) (185) |
— |
| RAD50 | 0.32% (2/615) (177) | 3.7% (4/109) (115); 0.32% (2/615) (177); 0.6% (1/183) (78) | — |
| RAD51 | — | 0.9% (1/109) (115) | — |
| RAD51B | — | 1.8% (2/109) (115) | — |
| RAD51C | 0.1% (3/3030) (178) | 0.1% (3/3030) (178); 0.34% (1/289) (190); 2.8% (3/109) (115) |
— |
| RAD51D | 0.16% (1/615) (177) | — | |
| PALB2 | 2.4% (1/42) (180); 0.16% (1/615) (177); 0.4% (12/3030) (178); 0.34% (1/298) (176); 0.23% (2/854) (182); 3.7% (2/54) (188); 0.8% (5/638) (191) |
0.16% (1/615) (177); 2% (2/100) (185) |
— |
| FANCA | 0.3% (1/456) (183) | — | — |
| FANCD2 | 1% (4/456) (183) | 3.7% (4/109) (115) | — |
| FANCF | 2.8 (3/109) (192) | 0.9% (1/109) (115) | — |
| FANCI | — | — | — |
| FANCM | 0.47% (3/638) (191); 1.8% (7/456) (183); 1.8% (7/456) (183) | 2.8% (3/109) (115) | — |
| NBN/NBS1 | 0.16% (1/615) (177); 0.13% (4/3030) (178) | 0.9% (1/109) (115) | — |
| BARD1 | 0.16% (1/615) (177); 0.13% (4/3030) (178); 0.34% (1/298) (176) | 0.49% (1/615) (177); 0.9% (1/109) (115) | — |
| ATM | 0.3% (1/332) (181); 1.8% (11/615) (177); 2.28% (69/3030) (178); 3.36% (10/298) (176); 1.17% (10/854) (182); 3.7% (2/54) (188); 2.98% (19/638) (191); 3.7% (14/456) (183) | 72.73% (8/11) (177); 5% (5/100) (185); 4.6% (5/109) (115) | — |
| ATR | 0.5% (2/456) (183); 0.9% (1/109) (192) | 1.8% (2/109) (115) | — |
| MRE11A | 0.07% (2/3030) (178) | 0.9% (1/109) (115) | — |
| BRIP1 | 0.17% (5/3030) (178); 1.04% (3/289) (190) | 0.34% (1/289) (190); 2.8% (3/109) (115) | — |
| XRCC1 | 0.6% (1/179) (78) | — | — |
| CHEK2 | 2.28% (14/615) (177); 1.09% (33/3030) (178); 1.68% (5/298) (176) |
1.95% (12/615) (177); 2.8% (3/109) (115) | — |
| EMSY | 0.5% (2/456) (183); 0.9% (1/109) (192) | — | — |
| TP53 | 89.8% (344/456) (183); 50.5% (55/109) (192); 0.35% (1/289) (190); 0.2% (6/3030) (178) |
0.34 (1/289) (190); 5.5% (6/109) (115) | — |
| STK11 | 0.16% (1/615) (177) | 4.6% (5/109) (115) | — |
| PTEN | 0.3% (1/456) (183); 0.9% (1/109) (192) | 0.6% (1/183) (78); 1.8% (2/109) (115) | – |
| CDH1 | 0.03% (1/3030) (178); 0.8% (3/456) (183) | — | 10.5% (6/57) (186); 50% (1/2) (166); 38% (19/50) (193) |
| CDK12 | 0.5% (2/456) (183) | — | — |
| BLM | 0.49% (3/615) (177) | 0.33% (2/615) (177); 1.8% (2/109) (115) | — |
| TP53BP1 | 0.5% (2/456) (183); 0.9% (1/109) (192) | — | — |
| ERCC1 | 0.6% (1/179) (78) | 0.9% (1/109) (115) | — |
| RBBP8 | 0.9% (1/109) (192) | 2.8% (3/109) (115) | — |
| MAD2L2/REV7 | — | 1.1% (2/183) (78) | — |
| XRCC5/Ku80 | 0.6% (1/179) (78) | 1.8% (2/109) (115) | — |
| XRCC6/Ku70 | 0.3% (1/456) (183); 0.6% (1/179) (78) | — | — |
| SLFN11 | — | — |
“—”no report found, “LOH” loss of heterozygosity.