Table 1.
Breast cancer risk and the ataxia-telangiectasia mutated gene (ATM) T2119C and C3161G variants
| Family historya | No family history | < 40 years | ≥ 40 years | Total | ||||||||||
| Genotype | Cases | Controls | Cases | Controls | Cases | Controls | Cases | Controls | Casesb | Controls | Crude OR (95% CI) | P | Adjusted OR (95% CI)c | P |
| ATM T2119C | ||||||||||||||
| TT | 428 (97.5) | 158 (98.1) | 859 (97.0) | 473 (97.1) | 677 (97.0) | 421 (97.2) | 610 (97.3) | 210 (97.7) | 1287 (97.1) 631 (97.4) | Reference | Reference | |||
| TC | 11 (2.5) | 3 (1.9) | 27 (3.0) | 14 (2.9) | 21 (3.0) | 12 (2.8) | 17 (2.7) | 5 (2.3) | 38 (2.9) | 17 (2.6) | 1.10 (0.61–1.96) | 0.8 | 1.08 (0.59–1.97) | 0.8 |
| Total | 439 | 161 | 886 | 487 | 698 | 433 | 627 | 215 | 1325 | 648 | ||||
| C allele frequency | 0.013 | 0.009 | 0.015 | 0.014 | 0.015 | 0.014 | 0.014 | 0.012 | 0.014 | 0.013 | ||||
| 95% CI | 0.005–0.020 | 0.000–0.020 | 0.010–0.021 | 0.007–0.022 | 0.009–0.021 | 0.006–0.022 | 0.007–0.020 | 0.001–0.022 | 0.010–0.019 | 0.007–0.019 | ||||
| ATM C3161G | ||||||||||||||
| CC | 439 (93.6) | 175 (95.1) | 922 (94.6) | 579 (95.9) | 722 (94.4) | 422 (95.9) | 639 (94.1) | 332 (95.4) | 1361 (94.3) 754 (95.7) | Reference | Reference | |||
| CG | 30 (6.4) | 9 (4.9) | 53 (5.4) | 25 (4.1) | 43 (5.6) | 18 (4.1) | 40 (5.9) | 16 (4.6) | 83 (5.7) | 34 (4.3) | 1.35 (0.90–2.03) | 0.1 | 1.30 (0.85–1.98) | 0.2 |
| Total | 469 | 184 | 975 | 604 | 765 | 440 | 679 | 348 | 1444 | 788 | ||||
| G allele frequency | 0.032 | 0.024 | 0.027 | 0.021 | 0.028 | 0.020 | 0.029 | 0.023 | 0.029 | 0.022 | ||||
| 95% CI | 0.021–0.043 | 0.009–0.040 | 0.020–0.034 | 0.013–0.029 | 0.020–0.036 | 0.011–0.030 | 0.020–0.038 | 0.012–0.034 | 0.023–0.035 | 0.014–0.029 | ||||
Data presented as n (%). OR, odds ratio; CI, confidence interval. a Family history defined as any reported first-degree or second-degree relative with breast cancer. The 3161 heterozygote genotype was detected in 1/49 (2%) of the subgroup of cases reporting affected sibs. b To date, 32 and 34 cases included in the T2119C and C3161G analysis, respectively, have been found to have a deleterious mutation in BRCA1 or BRCA2 by protein-truncation testing in specific exons covering about 70% of the coding regions, and by manual sequencing of BRCA1 in a subset. c Adjusted ORs were adjusted for age, country of birth, state, education, marital status, number of live births, height, weight, age at menarche, oral contraceptive use, and for reported family history of breast cancer (first-degree or second-degree relative).