Table 2. Genotype frequencies of ERCC4-rs744154 by mutation and disease status and hazard ratio estimates from stages I and II.
| Genotype | Unaffected (%) | Affected (%) | HRa | 95% CI | P-value | |
|---|---|---|---|---|---|---|
| Stage I a | ||||||
| BRCA1 (n=469) | CC | 104 (50) | 148 (57) | 1.00 | ||
| CG | 85 (41) | 96 (37) | 0.86 | 0.62–1.20 | ||
| GG | 19 (9) | 17 (7) | 0.49 | 0.24–1.01 | 0.1b | |
| Per allele | 0.78 | 0.60–1.00 | 0.05 | |||
| BRCA2 (n=368) | CC | 73 (45) | 109 (53) | 1.00 | ||
| CG | 81 (49) | 82 (40) | 0.66 | 0.40–1.09 | ||
| GG | 10 (6) | 13 (6) | 0.50 | 0.17–1.47 | 0.2b | |
| Per allele | 0.68 | 0.45–1.02 | 0.06 | |||
| Stage II | ||||||
| BRCA1 (n=9408) | CC | 2251 (51) | 2603 (53) | 1.00 | ||
| CG | 1836 (41) | 1922 (39) | 0.99 | 0.92–1.07 | ||
| GG | 365 (8) | 431 (9) | 0.96 | 0.83–1.10 | 0.8b | |
| Per allele | 0.98 | 0.93–1.04 | 0.5 | |||
| BRCA2 (n=5632) | CC | 1288 (52) | 1601 (51) | 1.00 | ||
| CG | 1012 (40) | 1300 (42) | 1.05 | 0.93–1.18 | ||
| GG | 200 (8) | 231 (7) | 0.82 | 0.65–1.02 | 0.09b | |
| Per allele | 0.97 | 0.89–1.06 | 0.5 | |||
a
837 mutation carriers from CNIO, MBCSG and HBCS were included in stage I. Additional mutation carriers from these centres were later genotyped and included in stage II, with carriers from other CIMBA centres. Total number of mutation carriers from these three centres included in the study is provided in Table 1.
b
2-d.f. test.