Table 2.
Associations with breast cancer risk by tumor subtype in BRCA1 and BRCA2 mutation carriers
| Locations | Positions | SNPs | ER-positive | ER-negative | ER-diff | ||
|---|---|---|---|---|---|---|---|
| HR (95 % CI) | p values | HR (95 % CI) | p values | p-diff | |||
| BRCA1 mutation carriers | |||||||
| 1q42.13 | 227,308,416 | rs11806633 | 1.10 (0.90–1.33) | 0.35 | 1.14 (1.03–1.25) | 9.0 × 10−3 | 0.73 |
| 2p23.2 | 28,319,320 | rs6721310 | 1.00 (0.88–1.09) | 0.96 | 1.08 (1.04–1.15) | 3.0 × 10−3 | 0.20 |
| 2q11.2 | 100,019,496 | rs2305354 | 0.98 (0.91–1.10) | 0.71 | 1.09 (1.03–1.13) | 1.0 × 10−3 | 0.09 |
| 4p15.33 | 14,858,341 | rs1389999 | 0.94 (0.85–1.04) | 0.20 | 0.94 (0.89–0.99) | 2.0 × 10−2 | 0.95 |
| 5q14.1 | 79,901,952 | rs425463 | 1.04 (0.94–1.15) | 0.48 | 1.07 (1.01–1.12) | 1.6 × 10−2 | 0.67 |
| 11q22.3 | 108,040,104 | rs6589007 | 1.08 (0.99–1.19) | 9.8 × 10−2 | 1.06 (1.01–1.11) | 2.0 × 10−2 | 0.66 |
| 11q22.3 | 108,089,197 | rs183459 | 1.08 (0.99–1.19) | 9.3 × 10−2 | 1.05 (1.00–1.11) | 3.7 × 10−2 | 0.62 |
| 11q22.3 | 108,123,189 | rs228592 | 1.08 (0.96–1.19) | 9.7 × 10−2 | 1.06 (1.00–1.11) | 3.4 × 10−2 | 0.64 |
| 12p13.33 | 986,004 | rs7967755 | 0.96 (0.84–1.09) | 0.54 | 0.92 (0.86–0.98) | 1.0 × 10−2 | 0.56 |
| BRCA2 mutation carriers | |||||||
| 6p22.1 | 28,231,243 | rs9468322 | 1.30 (1.12–1.51) | 5.0 × 10−4 | 1.00 (0.72–1.40) | 0.99 | 0.17 |
| 8q11.21 | 48,708,742 | rs6982040 | N/A | N/A | N/A | N/A | N/A |
| 16p13.3 | 1,371,154 | rs2268049 | 1.10 (1.01–1.21) | 4.0 × 10−2 | 1.17 (0.98–1.39) | 8.0 × 10−2 | 0.56 |
CI confidence interval, HR hazard ratio, SNP single-nucleotide polymorphism, N/A not available
* Hazard ratio per allele (one degree of freedom) estimated from the retrospective likelihood analysis