Gene | Frequency under 40 years N = 45 | Frequency under 40 years with FH N = 24 | Frequency under 50 years N = 397 | Frequency under 50 years with FH N = 197 |
---|---|---|---|---|
BRCA2 | 8 (17.8%) | 7 (29.2%) | 16 (4%) | 14 (7.1%) |
CHEK2 | 2 (4.4%) | 1 (4.2%) | 12 (3%) | 7 (3.6%) |
PALB2 | 1 (2.2%) | 1 (4.2%) | 5 (1.3%) | 4 (2%) |
BRCA1 | 1 (2.2%) | 0 (0%) | 1 (0.3%) | 0 (0%) |
TP53 | 1 (2.2%) | 1 (4.2%) | 2 (0.5%) | 2 (1%) |
Total (% of ER+ cases) | 13 variants (29%) in 11 women (24%)* | 10 variants (42%) in 9 women (38%) | 36 variants (9%) in 32 women (8%) | 27 variants (14%) in 24 women (12%) |