Associations by family history, synchronous or metachronous bilateral disease, age at diagnosis and hormone receptor subtype.
| ATM | CHEK2 | PALB2 | ||||||||
| All Cases | Carriers | OR (95%CI) | P-Value | Carriers | OR (95%CI) | P-Value | Carriers | OR (95%CI) | P-Value | |
| Family History* | ||||||||||
| Positive | 1301 (17.0%) | 16 (29.6%) | 28 (23.5%) | 7 (13.2%) | ||||||
| Negative | 6330 (83.0%) | 38 (70.4%) | 2.06 (1.12–3.65) | 0.022 | 91 (76.5%) | 1.51 (0.97–2.28) | 0.070 | 46 (86.8%) | 0.74 (0.60–1.54) | 0.44 |
| Bilateral Disease* | ||||||||||
| Positive | 220 (1.7%) | 0 (0.0%) | 11 (5.3%) | 4 (4.7%) | ||||||
| Negative | 12 526 (98.3%) | 83 (100.0%) | NA | 0.089 | 198 (94.7%) | 3.27 (1.66–5.83) | 0.0014 | 81 (95.3%) | 2.85 (0.86–6.91) | 0.080 |
| Age at Diagnosis* | ||||||||||
| Before 50 | 3674 (28.4%) | 25 (29.8%) | 3.41 (1.72–7.23) | 76 (36.0%) | 3.98 (2.62–6.21) | 27 (31.4%) | 5.80 (2.67–14.5) | |||
| 50s | 4952 (38.3%) | 34 (40.5%) | 3.44 (1.80–7.13) | 87 (41.2%) | 3.37 (2.24–5.22) | 41 (47.7%) | 6.54 (3.12–16.0) | |||
| After 60 | 4305 (33.3%) | 25 (29.8%) | 2.91 (1.47–6.17) | 0.66 | 48 (22.7%) | 2.12 (1.35–3.41) | 1.2×10 − 5 | 18 (20.9%) | 3.29 (1.43–8.47) | 0.22 |
| ER Status† | ||||||||||
| Positive | 7845 (83.6%) | 50 (92.6%) | 3.19 (1.73–6.47) | 1.0×10−4 | 140 (91.5%) | 3.42 (2.33–5.21) | 1.5×10 − 11 | 43 (79.6%) | 4.32 (2.07–10.5) | 2.7×10 − 5 |
| Negative | 1544 (16.4%) | 4 (7.4%) | 1.28 (0.36–3.76) | 0.67 | 13 (8.5%) | 1.59 (0.80–3.00) | 0.18 | 11 (20.4%) | 5.58 (2.19–15.2) | 3.6×10 − 4 |
| PR Status† | ||||||||||
| Positive | 3026 (66.5%) | 16 (64%) | 2.65 (1.24–5.87) | 0.012 | 61 (81.3%) | 3.87 (2.51–6.12) | 4.3E-10 | 16 (57.1%) | 4.16 (1.77–10.8) | 9.0×10 − 4 |
| Negative | 1524 (33.5%) | 9 (36%) | 2.96 (1.19–7.16) | 0.021 | 14 (18.7%) | 1.75 (0.89–3.25) | 0.100 | 12 (42.9%) | 6.21 (2.5–16.7) | 1.0×10 − 4 |
*Case only analysis.
†Case-control analysis.