Table 5.
Breast cancer risks associated with pathogenic variants pooled by gene among Caucasian male breast cancer cases
| Gene | Ambry cases | ExAC controls | Cancer risk | |||||
|---|---|---|---|---|---|---|---|---|
| Mutated alleles | Cases | Mutated alleles | Cases | OR | 95% CI lower | 95% CI upper | p value | |
| ATM | 2 | 421 | 90 | 26,644 | 1.4 | 0.3 | 5.1 | 0.66 |
| BRCA1 | 2 | 394 | 74 | 26,911 | 1.8 | 0.3 | 6.8 | 0.30 |
| BRCA2 | 21 | 394 | 105 | 26,791 | 13.9 | 8.5 | 22.5 | 1.92 × 10−16 |
| CHEK2 All | 17 | 421 | 424 | 25,215 | 2.4 | 1.4 | 3.9 | 1.82 × 10−3 |
| CHEK2_c.1100delC | 8 | 421 | 127 | 25,215 | 3.8 | 1.7 | 7.8 | 1.82 × 10−3 |
| CHEK2 W/O I157T/S428F | 10 | 421 | 163 | 25,215 | 3.7 | 1.9 | 7.0 | 6.24 × 10−4 |
| CHEK2 W/O I157T | 12 | 421 | 191 | 25,215 | 3.8 | 2.1 | 6.8 | 1.51 × 10−4 |
| CHEK2 I157T | 5 | 421 | 233 | 25,215 | 1.3 | 0.5 | 3.0 | 0.60 |
| PALB2 | 3 | 421 | 29 | 26,869 | 6.6 | 1.7 | 21.1 | 0.013 |