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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

From: BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

Study sample n Negative Positive (%) OR 95% CI P valuea Mean AAD (range)
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 onlyh 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)
  1. Univariate logistic regression was performed to estimate odds ratios (OR) and 95% confidence interval (CI)
  2. AAD age at first diagnosis, BC breast cancer, ExAC Exome Aggregation Consortium, OC ovarian cancer
  3. aFisher’s exact test
  4. b–gMean AAD and range refers to a subgroup of 680 patients (b), 511 patients (c), 169 patients (d), 593 patients (e), 410 patients (f), and 183 patients (g)
  5. h2238 BC index patients had one relative with BC and 2403 BC index patients had at least two relatives with BC
  6. i All BC index patients reported at least one relative with OC. In addition, 382 BC index patients had no relatives with BC, 282 BC index cases described one relative with BC, and 363 BC index patients two relatives with BC