Table 1 Prevalence of heterozygous loss-of-function germline mutations in the BRIP1 gene in control cohorts and BC/OC index patients according to tumour site, family history, and age at first diagnosis

ExAC control database

27,173

27,135

38 (0.14)

–

–

–

–

FLOSSIES control database

7325

7316

9 (0.12)

–

–

–

–

Geographically matched controls

2189

2186

3 (0.14)

–

–

–

–

All controls

36,687

36,637

50 (0.14)

–

–

–

–

OC index patients

706

688

18 (2.55)

19.17

11.13–33.03

<0.0001

54 (20–93)^b

 Affected by OC only

523

507

16 (3.06)

23.12

13.08–40.88

< 0.0001

53 (20–93)^c

 Affected by OC and BC

183

181

2 (1.09)

8.10

1.96–33.53

0.0276

60 (26–83)^d

 AAD OC < 51 years

246

244

2 (0.81)

6.01

1.45–24.82

0.0471

39 (20–50)

 AAD OC < 61 years

425

417

8 (1.88)

14.06

6.62–29.84

< 0.0001

46 (20–60)

 AAD OC ≥ 61 years

255

245

10 (3.92)

29.91

14.99–59.66

< 0.0001

69 (60–93)

 Familial OC index cases, overall

611

594

17 (2.78)

20.97

12.02–36.57

< 0.0001

54 (20–93)^e

 Familial OC index cases, relative(s) with BC only

421

412

9 (2.14)

16.01

7.82–23.76

< 0.0001

53 (20–85)^f

 Familial OC index cases, relative(s) with OC

190

182

8 (4.21)

32.21

15.06–68.90

< 0.0001

54 (21–93)^g

BC index patients

6341

6325

16 (0.25)

1.85

1.06–3.26

0.0363

47 (17–92)

 AAD BC < 51 years

4417

4407

10 (0.23)

1.66

0.84–3.28

0.1424

41 (17–50)

 AAD BC < 61 years

5627

5612

15 (0.27)

1.96

1.10–3.49

0.0272

44 (17–60)

 AAD BC ≥ 61 years

714

713

1 (0.14)

1.03

0.14–7.45

0.6260

68 (61–92)

 Familial BC index cases, overall

5668

5654

14 (0.25)

1.81

1.00–3.30

0.0623

48 (17–92)

 Familial BC index patients, relative(s) with BC only^h

4641

4632

9 (0.19)

1.42

0.70–2.90

0.3030

48 (17–92)

 Familial BC index patients, relative(s) with OCⁱ

1027

1022

5 (0.49)

3.59

1.43–9.01

0.0168

50 (17–92)