Mutation | Genotype | Unaffected N (%) | Affecteda N (%) | HR | 95% CI | P-value |
---|---|---|---|---|---|---|
CDK2NA/B - rs1011970 | Â | Â | Â | Â | Â | |
BRCA1 | GG | 4,318 (69.7) | 4,460 (70.0) | 1 | Â | Â |
 | GT | 1,698 (27.4) | 1,719 (27.0) | 1.01 | 0.94 to 1.09 |  |
 | TT | 180 (2.9) | 195 (3.1) | 1.11 | 0.91 to 1.35 |  |
 | 2-df test |  |  |  |  | 0.61 |
 | per allele |  |  | 1.03 | 0.96 to 1.09 | 0.45 |
BRCA2 | GG | 2,279 (68.7) | 2,586 (67.9) | 1 | Â | Â |
 | GT | 943 (28.4) | 1,098 (28.9) | 1.08 | 0.98 to 1.19 |  |
 | TT | 94 (2.8) | 123 (3.2) | 1.23 | 0.95 to 1.59 |  |
 | 2-df test |  |  |  |  | 0.12 |
 | per allele |  |  | 1.09 | 1.00 to 1.18 | 0.048 |
ZNF365 - rs10995190 | Â | Â | Â | Â | ||
BRCA1 | GG | 4,394 (70.9) | 4,556 (71.5) | 1 | Â | Â |
 | GA | 1,656 (26.7) | 1,662 (26.1) | 0.98 | 0.91 to 1.06 |  |
 | AA | 147 (2.4) | 156 (2.5) | 0.98 | 0.79 to 1.20 |  |
 | 2-df test |  |  |  |  | 0.89 |
 | per allele |  |  | 0.99 | 0.93 to 1.05 | 0.64 |
BRCA2 | GG | 2,334 (70.4) | 2,802 (73.7) | 1 | Â | Â |
 | GA | 913 (27.5) | 923 (24.3) | 0.86 | 0.78 to 0.96 |  |
 | AA | 68 (20.1) | 79 (2.1) | 0.96 | 0.69 to 1.34 |  |
 | 2-df test |  |  |  |  | 0.019 |
 | per allele |  |  | 0.90 | 0.82 to 0.98 | 0.015 |
ZMIZ1 - rs704010 | Â | Â | Â | Â | ||
BRCA1 | CC | 2,476 (40.3) | 2,504 (39.8) | 1 | Â | Â |
 | CT | 2,814 (45.8) | 2,894 (46.0) | 1.03 | 0.96 to 1.10 |  |
 | TT | 855 (13.9) | 888 (14.1) | 1.04 | 0.93 to 1.15 |  |
 | 2-df test |  |  |  |  | 0.69 |
 | per allele |  |  | 1.02 | 0.97 to 1.07 | 0.42 |
BRCA2 | CC | 1,286 (39.3) | 1,443 (38.4) | 1 | Â | Â |
 | CT | 1,496 (45.7) | 1,779 (47.3) | 1.07 | 0.97 to 1.18 |  |
 | TT | 494 (15.8) | 539 (14.3) | 0.99 | 0.86 to 1.14 |  |
 | 2-df test |  |  |  |  | 0.32 |
 | per allele |  |  | 1.01 | 0.95 to 1.08 | 0.73 |
10p15 - rs2380205 | Â | Â | Â | Â | Â | |
BRCA1 | CC | 1,609 (32.5) | 1,710 (32.1) | 1 | Â | Â |
 | CT | 2,410 (48.7) | 2,625 (49.3) | 1.01 | 0.93 to 1.09 |  |
 | TT | 933 (18.8) | 990 (18.6) | 1.02 | 0.92 to 1.13 |  |
 | 2-df test |  |  |  |  | 0.95 |
 | per allele |  |  | 1.01 | 0.96 to 1.06 | 0.75 |
BRCA2 | CC | 1,013 (32.8) | 1,163 (31.8) | 1 | Â | Â |
 | CT | 1,516 (49.1) | 1,816 (49.7) | 1.05 | 0.95 to 1.16 |  |
 | TT | 560 (18.1) | 681 (18.6) | 1.03 | 0.90 to 1.17 |  |
 | 2-df test |  |  |  |  | 0.63 |
 | per allele |  |  | 1.02 | 0.96 to 1.09 | 0.57 |
11q13 - rs614367 | Â | Â | Â | Â | ||
BRCA1 | CC | 4,516 (73.2) | 4,581 (72.1) | 1 | Â | Â |
 | CT | 1,511 (24.5) | 1,618 (25.5) | 1.05 | 0.98 to 1.14 |  |
 | TT | 146 (2.4) | 154 (2.4) | 1.07 | 0.87 to 1.32 |  |
 | 2-df test |  |  |  |  | 0.34 |
 | per allele |  |  | 1.05 | 0.98 to 1.12 | 0.15 |
BRCA2 | CC | 2,432 (73.6) | 2,723 (71.8) | 1 | Â | Â |
 | CT | 799 (24.1) | 983 (26.0) | 1.06 | 0.96 to 1.17 |  |
 | TT | 76 (2.3) | 83 (2.2) | 0.97 | 0.72 to 1.30 |  |
 | 2-df test |  |  |  |  | 0.54 |
 | per allele |  |  | 1.03 | 0.95 to 1.12 | 0.46 |
12q24 - rs1292011 | Â | Â | Â | Â | ||
BRCA1 | AA | 1,292 (34.3) | 1,331 (35.4) | 1 | Â | Â |
 | AG | 1,825 (48.4) | 1,775 (47.3) | 0.98 | 0.89 to 1.07 |  |
 | GG | 653 (17.3) | 649 (17.3) | 1.01 | 0.90 to 1.14 |  |
 | 2-df test |  |  |  |  | 0.80 |
 | per allele |  |  | 1.00 | 0.94 to 1.06 | 0.99 |
BRCA2 | AA | 824 (35.2) | 908 (35.9) | 1 | Â | Â |
 | AG | 1,095 (46.7) | 1,225 (48.4) | 1.03 | 0.92 to 1.16 |  |
 | GG | 423 (18.1) | 397 (15.7) | 0.84 | 0.72 to 0.99 |  |
 | 2-df test |  |  |  |  | 0.03 |
 | per allele |  |  | 0.94 | 0.87 to 1.01 | 0.10 |
PTHLH - rs10771399 | Â | Â | Â | Â | Â | |
BRCA1 | AA | 4,913 (79.4) | 5,221 (82.0) | 1 | Â | Â |
 | AG | 1,194 (19.3) | 1,082 (17.0) | 0.87 | 0.80 to 0.95 |  |
 | GG | 83 (1.3) | 65 (1.0) | 0.77 | 0.57 to 1.04 |  |
 | 2-df test |  |  |  |  | 1.5 × 10 -3 |
 | per allele |  |  | 0.87 | 0.81 to 0.94 | 3.2 × 10 -4 |
BRCA2 | AA | 2,649 (80.0) | 3,085 (81.2) | 1 | Â | Â |
 | AG | 620 (18.7) | 679 (17.9) | 0.95 | 0.85 to 1.07 |  |
 | GG | 45 (1.4) | 34 (0.9) | 0.74 | 0.47 to 1.15 |  |
 | 2-df test |  |  |  |  | 0.31 |
 | per allele |  |  | 0.93 | 0.84 to 1.04 | 0.20 |
9q31.2 - rs865686 | Â | Â | Â | Â | Â | |
BRCA1 | TT | 2,521 (40.1) | 2,640 (41.4) | 1 | Â | Â |
 | TG | 2,872 (46.4) | 2,849 (44.7) | 0.95 | 0.88 to 1.01 |  |
 | GG | 799 (12.9) | 880 (13.8) | 1.05 | 0.95 to 1.17 |  |
 | 2-df test |  |  |  |  | 0.06 |
 | per allele |  |  | 1 | 0.96 to 1.05 | 0.85 |
BRCA2 | TT | 1,277 (38.6) | 1,581 (41.6) | 1 | Â | Â |
 | TG | 1,610 (48.6) | 1,717 (45.2) | 0.86 | 0.78 to 0.95 |  |
 | GG | 425 (12.8) | 501 (13.2) | 0.96 | 0.84 to 1.11 |  |
 | 2-df test |  |  |  |  | 7.3 × 10 -3 |
 | per allele |  |  | 0.95 | 0.89 to 1.01 | 0.10 |