Table 1.
Prevalence of mutation, LOH, and promoter hypermethylation in ovarian cancer.
| Genes | Mutation [%(proportion)] | LOH [%(proportion)] | Promoter Methylation [%(proportion)] |
|---|---|---|---|
| BRCA1 | 12.2% (31/255) (44); 5% (15/300) (45); 18% (60/333) (46); 15.5% (81/523) (47); 16.5% (26/158) (48) |
88% (36/41) (49); 44% (4/9) (50); 67% (6/9) (50); 81.5% (123/151) (51); 60% (60/100) (52); 97% (30/31) (53); 10.13% (16/158) (48) |
20% (22/112) (54); 14% (2/14) (50); 14% (5/35) (55); 9.6% (32/332) (56); 14% (38/257) (57); 35% (15/42) (58); 9.34% (45/482) (59); 73.7% (56/76) (60) |
| BRCA2 | 9.8% (25/255) (44); 2% (6/300) (45); 3.3% (11/333) (46); 5.5% (29/523) (47); 5.06% (8/158) (48) |
58% (24/41) (49); 50% (3/6) (50); 67% (4/6)] (50); 68.9% (104/151) (51); 73% (75/103) (52); 53% (16.5/31) (53); 0.63% (1/158) (48) |
21% (3/14) (50); 44% (22/50) (61) |
| RAD50 | 7.7% (29/380) (62); 60% (12/20) (63); 2.94% (2/68) (64); 0.63% (1/158) (48) |
0.63% (1/158) (48) | – |
| RAD51 | 0.3% (1/316) (11) | 2% (10/489) (11) | – |
| RAD51B | 2.1% (3/142) (65); 0.06% (2/3.429) (66) | 0.8% (4/489) (11) | – |
| RAD51C | 0.7% (1/141) (67); 2.5% (13/523) (47); 0.41% (14/3,429) (66) |
97% (30/31) (53); 0.5 (2/429) (68) | 1.45% (7/482) (59); 2.7% (9/332) (69); 2.67% (14/524) (70); 3% (9/316) (11) |
| RAD51D | 1.3% (1/77) (67); 2.6% (10/380) (62); 0.35% (12/3429) (66) |
0.7% (3/429) (68); 1.2% (6/489) (11) | – |
| PALB2 | 3% (9/299) (71); 3.03% (2/66) (72); 0.6% (2/333) (46); 0.63% (12/1915) (73); 2.9% (2/69) (74); 1.1% (6/523) (47); 1.9% (3/158) (48) |
0.23% (1/429) (75); 0.7% (3/429) (68); 10.8% (17/158) (48) |
3.08% (4/130) (76) |
| FANCA | 4.35% (1/23) (45) | 56.45% (17.5/31) (53); 1.16% (1/86) (77); 0.7% (3/429) (75) |
– |
| FANCD2 | 0.3% (1/316) (11) | 32.25% (10/31) (53); 0.23% (1/429) (75) | – |
| FANCF | 0.3% (1/300) (45) | 0.2% (1/572) (78) | 32.14% (36/112) (79);13.2% (7/53) (80) |
| FANCI | 0.6% (92/300) (45) | 1.16% (1/86) (77) | – |
| FANCM | 4.35% (1/23) (45); 2.1% (5/235) (81); 0.96% (5/523) (47) |
0.2% (1/489) (11) | – |
| NBN/NBS1 | 1.8% (6/333) (46); 0.28% (9/3236) (82); 0.42% (1/235) (81); 0.38% (2/523) (47) |
0.6% (3/489) (11) | – |
| BARD1 | 0.12% (4/3,236) (82); 1.6% (4/255) (83); 0.63% (1/158) (48) |
0.63% (1/158) (48) | – |
| ATM | 1.78% (7/392) (121); 0.3% (1/333) (46); 16.7% (8/48) (292); 0.82% (3/367 (43); 3.2% (5/158) (48) | 29% (9/31) (53); 1.86% (8/429) (75); 1.9% (3/158) (48) |
– |
| ATR | 6% (3/50) (293); 69.7% (23/33) (294);; 4.8% (12/141) (295) | 29% (9/31) (53) (75); | – |
| MRE11A | 5.92% (17/287) (296); 0.4% (2/523) (47); 0.22% (1/466) (297) | – | |
| BRIP1 | 7.7% (29/380) (62); 1.47% (1/68) (64); 0.4% (2/523) (47); 1.7% (8/466) (297); 0.52% (1/192) (131); 0.63% (1/158) (48) |
0.7% (3/429) (68); 1.3% (2/158) (48) | – |
| ERCC1 | 2.6% 10/380) (62); 0.2% (1/523) (78) | 0.4% (2/489) (11) | – |
| CHEK2 | 20.3% (77/380) (62); 45% (9/20) (63); 1.47% (1/68) (64); 4.2% (12/287) (296); 0.4% (2/523) (47); 1.72% (10/581) (298); 0.43% (2/466) (297); 0.52% (1/192) (131); 0.63% (1/158) (48) |
10% (1/10) (298); 7.6% (12/158) (48) | – |
| EMSY | 3.8% (14/380) (62); 8% (25/316) (11); 1.5% (8/523) (78) | 0.2% (1/489) (11) | – |
| TP53 | 1.47% (1/68) (64); 3.83% (11/287) (296); 0.3% (2/581) (298); 1.04% (2/192) (131); 96% (312/316) (11); 57% (90/158) (48); 71.3% (375/523) (78) | 0.63% (1/158) (78) | – |
| STK11 | 4.2% (12/287) (296); 1.3% (2/158) (48) | 1.6% (8/489) (11) | – |
| PTEN | 5.23% (15/287) (296); 0.43% (2/466) (297); 11.4% (18/158) (48) |
6.7% (21/316) (11); 1.9% (3/158) (48); 6.1% (30/489) (11) | 16.9% (21/124) (299) |
| CDH1 | 7.32% (21/287) (296); 0.52% (1/192) (131) | 2.3% (11/489) (11) | – |
| BLM | 0.4% (9/2561) (300); 1.27% (4/316) (11) | 0.6% (3/489) (11) | – |
| RBBP8 | 1.04% (2/192) (131); 0.32% (1/316) (11); 1.9% (3/158) (48) | 0.2% (1/489) (11) | – |
| CDK12 | 2.9% (9/316) (11); 4% (21/523) (11) | 0.4% (2/489) (11) | – |
| TP53BP1 | 1.27% (4/316) (11); 0.8% (4/523) (78) | 1.4% (7/489) (11) | – |
| XRCC1 | 0.6% (2/316) (11); 0.8% (4/523) (78) | 0.4% (2/489) (11) | – |
| MAD2L2/REV7 | 0.3% (1/316) (11) | 0.3% (2/572) (78) | – |
| XRCC5/Ku80 | 0.2% (1/523) (78) | – | – |
| XRCC6/Ku70 | 0.3% (1/316) (11); 0.8% (4/523) (78) | 0.2% (1/489) (11) | – |
| SLFN11 | 0.6% (3/523) (78) | 0.8% (4/489) (11) | 39% (16/41) (209) |
“–” no report found, “LOH” loss of heterozygosity.