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Table 1 Frequency of families with BRCA1/2 pathogenic mutations according to the inclusion criteria

From: Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain)

Family type Tested families BRCA1 (%) BRCA2 (%) BRCA1/2 (%)
A. Br. (3 or >, only Br) 80 5 (6.3) 6 (7.5) 11 (13.8)
A. Ov. (3 or >, at least 1 Ov) 48 16 (33.3) 4 (8.3) 20 (41.7)
B. 2 Ov 2 1 (50.0) 0 (0.0) 1 (50.0)
C. 1 Br + 1 Ov 33 9 (27.3) 4 (12.1) 13 (39.4)
D. 1 mBr and Br/Ov 11 1 (9.1) 2 (18.2) 3 (27.3)
E. 2 Br<50 35 3 (8.6) 2 (5.7) 5 (14.3)
F. bBr and other <50 13 1 (7.7) 1 (7.7) 2 (15.4)
G. a. 1 bBr<40 2 1 (50.0) 0 (0.0) 1 (50.0)
G. b. 1 Br<30 9 0 (0.0) 0 (0.0) 0 (0.0)
G. c. 1 BrOv 4 1 (25.0) 0 (0.0) 1 (25.0)
H. borderline 19 1 (5.3) 1 (5.3) 2 (10.5)
Total 256 39 (15.2) 20 (7.8) 59 (23.0)
  1. Br, breast cancer; Ov, ovarian cancer; mBr, male breast cancer; bBr, bilateral breast cancer.