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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.