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Table 4 Summary of deleterious mutations in BRCA genes identified in relation to inclusion criteria and phenotype.

From: Spectrum and characterisation of BRCA1 and BRCA2deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer

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%)
  1. Abbreviations: inclusion criteria – see Methods section; mutation – only deleterious mutations summarised in Table 1 and Table 2 are considered; CI – Confidence Interval; HOC – hereditary ovarian cancer syndrome; HBOC – hereditary breast and ovarian cancer syndrome; HBC – hereditary breast cancer only syndrome.