Breast cancer risks of the 15 genes estimated by case-control association analysis in Chinese women
| Gene | Case (n = 8,067) | Control (n = 13,129) | OR (95% CI) | P | ||
|---|---|---|---|---|---|---|
| No. of carriers | % | No. of carriers | % | |||
| TP53 | 31 | 0.38% | 3 | 0.02% | 16.9 (5.2–55.2) | 1.72 × 10−10 |
| BRCA2 | 284 | 3.52% | 46 | 0.35% | 10.4 (7.6–14.2) | 3.13 × 10−73 |
| BRCA1 | 146 | 1.81% | 25 | 0.19% | 9.7 (6.3–14.8) | 1.71 × 10−37 |
| PALB2 | 57 | 0.71% | 18 | 0.14% | 5.2 (3.0–8.8) | 1.21 × 10−11 |
| BARD1 | 15 | 0.19% | 8 | 0.06% | 3.1 (1.3–7.2) | 7.27 × 10−3 |
| CHEK2 | 26 | 0.32% | 17 | 0.13% | 2.5 (1.4–4.6) | 2.45 × 10−3 |
| RAD51D | 31 | 0.38% | 23 | 0.18% | 2.2 (1.3–3.8) | 3.37 × 10−3 |
| ATM | 31 | 0.38% | 24 | 0.18% | 2.1 (1.2–3.6) | 5.12 × 10−3 |
| PTEN | 5 | 0.06% | 0 | 0.00% | – | – |
| CDH1 | 1 | 0.01% | 0 | 0.00% | – | – |
| STK11 | 1 | 0.01% | 1 | 0.01% | 1.6 (0.1–26.0) | 1.00 |
| NBN | 6 | 0.07% | 5 | 0.04% | 2.0 (0.6–6.4) | 0.35 |
| RAD50 | 21 | 0.26% | 31 | 0.24% | 1.1 (0.6–1.9) | 0.73 |
| BRIP1 | 11 | 0.14% | 29 | 0.22% | 0.6 (0.3–1.2) | 0.17 |
| RAD51C | 2 | 0.02% | 22 | 0.17% | 0.1 (0.0–0.6) | 2.69 × 10−3 |
| In total | 654# | 8.11% | 251# | 1.91% | – | – |
#Fourteen breast cancer patients and 1 cancer-free control carrying pathogenic variants in 2 different genes. OR, odds ratio; CI, confidence interval. OR and P values were estimated using logistic regression.