Table 2

Familial breast and ovarian cancer histories used as inclusion criteria for BRCA1/2 mutation testing in German Consortium for Hereditary Breast and Ovarian Cancer and observed mutation prevalences

Families with pathogenic mutation
FamiliesBRCA1/2BRCA1BRCA2
Distinct groups of familial BC and OC history (including proband)N% of totalnPrev (%)95% CI (%)nPrev (%)95% CI (%)nPrev (%)95% CI (%)
Total21 401100.0513624.023.4 to 24.6339815.915.4 to 16.417668.37.9 to 8.6
≥3 females with BC51+ (no BC<51, no OC, no mBC)6843.2253.72.5 to 5.391.30.7 to 2.5172.51.6 to 3.9
≥2 females with BC, of these ≥1 with BC50−(no OC, no mBC)12 99660.7237918.317.7 to 19.0143911.110.5 to 11.69497.36.9 to 7.8
Single female with unilateral BC35−(no further female BC, no OC, no mBC)12675.917313.711.9 to 15.71169.27.7 to 10.9574.53.5 to 5.8
Single female with bBC50− (no further female BC, no OC, no mBC)4802.210922.719.2 to 26.77315.212.3 to 18.7367.55.5 to 10.2
≥1 females with BC and ≥1 female with OC (no mBC)507223.7211141.640.3 to 43.0162432.030.7 to 33.35009.99.1 to 10.7
≥2 females with OC (no female BC, no mBC)2601.210941.936.1 to 48.07729.624.4 to 35.43413.19.5 to 17.7
≥1 male with BC and ≥1 females with BC or OC6423.023035.832.2 to 39.6609.37.3 to 11.817326.923.7 to 30.5
  • bBC, bilateral breast cancer; BC, breast cancer; mBC, male breast cancer; OC, ovarian cancer; Prev, prevalence.