Table 2.
The prevalence and association of BRIP1, RAD51C, and RAD51D recurrent mutations (n ≥ 5) with OC risk
| Mutation ID (nt level) | Mutation ID (AA level) | M/ALL OC (%) | M/ALL CTR (%) | OR; 95%CIs; p |
|---|---|---|---|---|
| BRIP1 | ||||
| c.394dupA | (p.Thr132Asnfs) | 6/22494 (0.0267) | 2/118234 (0.0017) | 15.77; 3.18–78.15; 0.0007 |
| c.1236delA | (p.Val413Phefs) | 5/22494 (0.0222) | 2/133990 (0.0015) | 14.89; 2.89–76.78; 0.0012 |
| c.1871C > A | (p.Ser624Ter) | 5/22494 (0.0222) | 5/134109 (0.0037) | 5.96; 1.73–20.60; 0.0048 |
| c.2010dupT | (p.Glu671Terfs) | 6/22494 (0.0267) | 2/118387 (0.0017) | 15.79; 3.19–78.25; 0.0007 |
| c.2108_2109insCC | (p.Lys703Asnfs) | 6/22494 (0.0267) | 6/133895 (0.0045) | 5.95; 1.92–18.46; 0.0020 |
| c.2255_2256delAA | (p.Lys752Argfs) | 7/22494 (0.0311) | 2/118257 (0.0017) | 18.41; 3.82–88.61; 0.0003 |
| c.2392C > T | (p.Arg798Ter) | 14/22494 (0.0622) | 37/131983 (0.0280) | 2.22; 1.20–4.11; 0.0110 |
| c.2400C > G | (p.Tyr800Ter) | 5/22494 (0.0222) | 5/117211 (0.0043) | 5.21; 1.51–18.00; 0.0091 |
| RAD51C | ||||
| c.224dupA | (p.Tyr75Terfs) | 7/23802 (0.0294) | 2/118461 (0.0017) | 17.42; 3.62–83.88; 0.0004 |
| c.577C > T | (p.Arg193Ter) | 9/23802 (0.0378) | 8/118351 (0.0068) | 5.60; 2.16–14.50; 0.0004 |
| c.706-2A > G | 11/23802 (0.0462) | 6/134110 (0.0045) | 10.33; 3.82–27.95; < 0.0001 | |
| c.955C > T | (p.Arg319Ter) | 6/23802 (0.0252) | 2/118382 (0.0017) | 14.92; 3.01–73.95; 0.0009 |
| RAD51D | ||||
| c.270_271dupTA | (p.Lys91Ilefs) | 7/22584 (0.0310) | 14/118455 (0.0118) | 2.62; 1.06–6.50; 0.0373 |
| c.556C > T | (p.Arg186Ter) | 6/22584 (0.0266) | 9/133163 (0.0068) | 3.93; 1.40–11.05; 0.0094 |
| c.694C > T | (p.Arg232Ter) | 11/22584 (0.0487) | 4/131873 (0.0030) | 16.07; 5.12–50.46; < 0.0001 |
| c.748delC | (p.His250Thrfs) | 6/22584 (0.0266) | 1/118275 (0.0008) | 31.43; 3.78–261.09; 0.0014 |
ALL total number of cases tested; CTR controls; M Number of cases with mutation; OC Ovarian cancer cases