Breast cancer risks of the 15 genes stratified by ER, PR, and HER2 status of breast cancer cases
| Gene | ER and/or PR+, and HER2-cases (n = 4,421) | HER2+ cases (n = 1,847) | ER-, PR-, and HER2-cases (n = 1,103) | ER/PR/HER2 unknown cases (n = 696) | ||||
|---|---|---|---|---|---|---|---|---|
| No. of carriers (%) | OR (95% CI) | No. of carriers (%) | OR (95% CI) | No. of carriers (%) | OR (95% CI) | No. of carriers (%) | OR (95% CI) | |
| TP53 | 16 (0.36) | 15.9 (4.6–54.6) | 10 (0.54) | 23.8 (6.5–86.6) | 2 (0.18) | 7.9 (1.3–47.6) | 3 (0.43) | 18.9 (3.8–94.0) |
| BRCA2 | 190 (4.30) | 12.8 (8.9–17.7) | 29 (1.57) | 4.5 (2.8–7.2) | 44 (3.99) | 11.8 (7.8–17.9) | 21 (3.02) | 8.8 (5.3–14.9) |
| BRCA1 | 47 (1.06) | 5.6 (3.5–9.2) | 12 (0.65) | 3.4 (1.7–6.8) | 82 (7.43) | 42.1 (26.8–66.2) | 5 (0.72) | 3.8 (1.4–9.9) |
| PALB2 | 36 (0.81) | 6.0 (3.4–10.5) | 8 (0.43) | 3.2 (1.4–7.3) | 13 (1.18) | 8.7 (4.2–17.8) | 0 (0.00) | – |
| BARD1 | 4 (0.09) | 1.5 (0.4–4.9) | 2 (0.11) | 1.8 (0.4–8.4) | 8 (0.73) | 12.0 (4.5–32.0) | 1 (0.14) | 2.3 (0.3–18.9) |
| CHEK2 | 14 (0.32) | 2.5 (1.2–5.0) | 9 (0.49) | 3.8 (1.7–8.5) | 1 (0.09) | 0.7 (0.1–5.3) | 2 (0.29) | 2.2 (0.5–9.6) |
| RAD51D | 11 (0.25) | 1.4 (0.7–2.9) | 6 (0.32) | 1.9 (0.8–4.6) | 12 (1.09) | 6.3 (3.1–12.6) | 2 (0.29) | 1.6 (0.4–7.0) |
| ATM | 22 (0.50) | 2.7 (1.5–4.9) | 5 (0.27) | 1.5 (0.6–3.9) | 1 (0.09) | 0.5 (0.1–3.7) | 3 (0.43) | 2.4 (0.7–7.9) |
| PTEN | 4 (0.09) | – | 1 (0.05) | – | 0 (0.00) | – | 0 (0.00) | – |
| CDH1 | 0 (0.00) | – | 0 (0.00) | – | 1 (0.09) | – | 0 (0.00) | – |
| STK11 | 1 (0.02) | 3.0 (0.2–47.5) | 0 (0.00) | – | 0 (0.00) | – | 0 (0.00) | – |
| NBN | 5 (0.11) | 3.0 (0.9–10.3) | 1 (0.05) | 1.4 (0.2–12.2) | 0 (0.00) | – | 0 (0.00) | – |
| RAD50 | 14 (0.32) | 1.3 (0.7–2.5) | 3 (0.16) | 0.7 (0.2–2.3) | 3 (0.27) | 1.2 (0.4–3.8) | 1 (0.14) | 0.6 (0.08–4.5) |
| BRIP1 | 6 (0.14) | 0.6 (0.3–1.5) | 3 (0.16) | 0.7 (0.2–2.4) | 2 (0.18) | 0.8 (0.2–3.4) | 0 (0.00) | – |
| RAD51C | 0 (0.00) | – | 2 (0.11) | 0.6 (0.2–2.7) | 0 (0.00) | – | 0 (0.00) | – |
ER, estrogen receptor; PR, progesterone receptor; HER2, human epidermal growth factor receptor 2; OR, odds ratio; CI, confidence interval.