Inclusion criteria and phenotype | Number of families/patients | BRCA1 mutation N (%; 95% CI) | BRCA2 mutation N (%; 95% CI) | Overall mutation N (%; 95% CI) |
---|---|---|---|---|
I. HOC + HBOC | 120 | 61 (50.8%; 41.6%–60.1%) | 12 (10.0%; 5.3%–16.8%) | 73 (60.8%; 51.5%–69.6%) |
I. HBC | 200 | 41 (20.5%; 15.1%–26.8%) | 24 (12.0%; 7.8%–17.3%) | 65 (32.5%; 26.1%–39.5%) |
I. Overall | 320 | 102 (31.9%; 26.8%–37.3%) | 36 (11.3%; 8.0%–15.2%) | 138 (43.1%; 37.6%–48.8%) |
II. HOC + HBOC | 40 | 22 (55.0%; 38.5%–70.7%) | 1 (2.6%; 0.1%–13.2%) | 23 (57.5%; 40.9%–73.0%) |
II. HBC | 212 | 25 (11.8%; 7.8%–16.9%) | 24 (11.3%; 7.4%–16.4%) | 49 (23.1%; 17.6%–29.4%) |
II. Overall | 252 | 47 (18.7%; 14.0%–24.0%) | 25 (10.0%; 6.5%–14.3%) | 72 (28.6%; 23.1%–34.6%) |
I.+II. Familial cases HOC + HBOC | 160 | 83 (51.9%; 43.8%–59.8%) | 13 (8.2%; 4.4%–13.5%) | 96 (60.0%; 52.0%–67.7%) |
I.+II. Familial cases HBC | 412 | 66 (16.0%; 12.6%–19.9%) | 48 (11.7%; 8.7%–15.1%) | 114 (27.7%; 23.4%–32.3%) |
I.+II. Familial cases – overall | 572 | 149 (26.0%; 22.5%–29.9%) | 61 (10.7%; 8.3%–13.5%) | 210 (36.7%; 32.8%–40.8%) |
III.A Bilateral breast cancer patient | 29 | 5 (17.2%; 5.8%–35.8%) | 4 (13.8%; 3.9%–31.7%) | 9 (31.0%; 15.3%–50.8%) |
III.B Bilateral ovarian cancer patient | 7 | 1 (14.3%; 0.4%–57.9%) | 0 (0.0%; 0.0%–0.0%) | 1 (14.3%; 0.4%–57.9%) |
III.C Patient with breast and ovarian cancer | 19 | 11 (57.9%; 33.5%–79.7%) | 3 (15.8%; 3.4%–39.6%) | 14 (73.7%; 48.8%–90.9%) |
III. Duplex cancer patients -overall | 55 | 17 (30.9%; 19.1%–44.8%) | 7 (12.7%; 5.3%–24.5%) | 24 (43.6%; 30.3%–57.7%) |
IV. Early onset ovarian cancer patient | 19 | 1 (5.3%; 0.1%–26.0%) | 0 (0.0%; 0.0%–0.0%) | 1 (5.3%; 0.1%–26.0%) |
IV. Early onset breast cancer patient | 121 | 7 (5.8%; 2.4%–11.6%) | 6 (5.0%; 1.8%–10.5%) | 13 (10.7%; 5.8%–17.7%) |
IV. Overall | 140 | 8 (5.7%; 2.5%–10.9%) | 6 (4.3%; 1.6%–9.1%) | 14 (10.0%; 5.6%–16.2%) |
V. Male breast cancer | 16 | 3 (18.8%; 4.0%–45.6%) | 3 (18.8%; 4.0%–45.6%) | 6 (37.5%; 15.2%–64.6%) |
VI. Healthy person in high-risk (I.) family | 77 | 15 (19.5%; 11.3%–30.1%) | 5 (6.5%; 2.1%–14.5%) | 20 (26.0%; 16.6%–37.2%) |
VII. Out of criteria families | 150 | 12 (8.0%; 4.2%–13.6%) | 8 (5.3%; 2.3%–10.2%) | 20 (13.3%; 8.3%–19.8%) |