Table 2 The prevalence and association of BRIP1, RAD51C, and RAD51D recurrent mutations (n ≥ 5) with OC risk

 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

 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

 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