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