|  |  |  |  | Breast cancer | Ovarian cancer | ||||
---|---|---|---|---|---|---|---|---|---|---|
 |  | Unaffected N (%) | Breast cancer N (%) | Ovarian cancer N (%) | HR | 95% CI | P-value | HR | 95% CI | P-value |
CDK2NA/B - rs1011970 | Â | Â | Â | Â | Â | Â | Â | Â | Â | |
BRCA1 | GG | 3,328 (69.6) | 4,424 (69.9) | 1,026 (70.1) | 1 | Â | Â | 1 | Â | Â |
 | GT | 1,309 (27.4) | 1,710 (27.0) | 398 (27.2) | 1.03 | 0.95 to 1.11 |  | 1.10 | 0.95 to 1.26 |  |
 | TT | 142 (3.0) | 194 (3.1) | 39 (2.7) | 1.09 | 0.88 to 1.35 |  | 0.90 | 0.61 to 1.32 |  |
 | 2-df test |  |  |  |  |  | 0.57 |  |  | 0.35 |
 | per allele |  |  |  | 1.04 | 0.91 to 1.11 | 0.30 | 1.04 | 0.93 to 1.17 | 0.48 |
BRCA2 | GG | 1,972 (68.6) | 2578 (67.9) | 315 (69.5) | 1 | Â | Â | 1 | Â | Â |
 | GT | 815 (28.4) | 1097 (28.9) | 129 (28.5) | 1.09 | 0.98 to 1.21 |  | 1.07 | 0.85 to 1.35 |  |
 | TT | 86 (3.0) | 122 (3.2) | 9 (2.0) | 1.19 | 0.91 to 1.57 |  | 0.84 | 0.40 to 1.77 |  |
 | 2-df test |  |  |  |  |  | 0.15 |  |  | 0.74 |
 | per allele |  |  |  | 1.09 | 1.00 to 1.19 | 0.05 | 1.03 | 0.84 to 1.25 | 0.81 |
ZNF365 - rs10995190 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
BRCA1 | GG | 3,408 (71.3) | 4,523 (71.5) | 1,019 (69.6) | 1 | Â | Â | 1 | Â | Â |
 | GA | 1,258 (26.3) | 1,650 (26.1) | 410 (28.0) | 1.00 | 0.93 to 1.08 |  | 1.12 | 0.98 to 1.28 |  |
 | AA | 113 (2.4) | 155 (2.5) | 35 (2.4) | 0.96 | 0.78 to 1.20 |  | 0.90 | 0.61 to 1.33 |  |
 | 2-df test |  |  |  |  |  | 0.94 |  |  | 0.23 |
 | per allele |  |  |  | 0.99 | 0.93 to 1.06 | 0.88 | 1.06 | 0.95 to 1.19 | 0.32 |
BRCA2 | GG | 2,033 (70.4) | 2,795 (73.7) | 318 (70.2) | 1 | Â | Â | 1 | Â | Â |
 | GA | 794 (27.7) | 920 (24.3) | 122 (26.9) | 0.86 | 0.78 to 0.96 |  | 0.99 | 0.78 to 1.25 |  |
 | AA | 55 (1.9) | 79 (2.1) | 13 (2.9) | 1.03 | 0.74 to 1.43 |  | 1.58 | 0.83 to 3.03 |  |
 | 2-df test |  |  |  |  |  | 0.02 |  |  | 0.37 |
 | per allele |  |  |  | 0.90 | 0.82 to 0.99 | 0.03 | 1.06 | 0.87 to 1.31 | 0.55 |
ZMIZ1 - rs704010 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
BRCA1 | CC | 1,904 (40.2) | 2,493 (40.0) | 583 (40.1) | 1 | Â | Â | 1 | Â | Â |
 | CT | 2,172 (45.9) | 2,871 (46.0) | 665 (45.7) | 1.02 | 0.95 to 1.10 |  | 1.01 | 0.89 to 1.15 |  |
 | TT | 660 (13.9) | 877 (14.1) | 206 (14.2) | 1.02 | 0.92 to 1.14 |  | 1.01 | 0.84 to 1.22 |  |
 | 2-df test |  |  |  |  |  | 0.67 |  |  | 0.99 |
 | per allele |  |  |  | 1.01 | 0.97 to 1.07 | 0.58 | 1.01 | 0.92 to 1.10 | 0.90 |
BRCA2 | CC | 1,109 (39.0) | 1,439 (38.4) | 181 (40.1) | 1 | Â | Â | 1 | Â | Â |
 | CT | 1,306 (46.0) | 1,774 (47.3) | 192 (43.4) | 1.06 | 0.96 to 1.17 |  | 0.96 | 0.76 to 1.20 |  |
 | TT | 426 (15.0) | 538 (14.3) | 69 (15.6) | 1.00 | 0.86 to 1.15 |  | 1.05 | 0.77 to 1.43 |  |
 | 2-df test |  |  |  |  |  | 0.46 |  |  | 0.81 |
 | per allele |  |  |  | 1.01 | 0.95 to 1.08 | 0.72 | 1.01 | 0.87 to 1.18 | 0.90 |
10p15 - rs2380205 | Â | Â | Â | Â | Â | Â | Â | Â | ||
BRCA1 | CC | 1,183 (32.2) | 1,698 (32.1) | 438 (33.2) | 1 | Â | Â | 1 | Â | Â |
 | CT | 1,796 (48.9) | 2,605 (49.3) | 634 (48.1) | 0.99 | 0.91 to 1.08 |  | 0.91 | 0.79 to 1.05 |  |
 | TT | 696 (18.9) | 981 (18.6) | 246 (18.7) | 1.00 | 0.90 to 1.12 |  | 0.94 | 0.78 to 1.14 |  |
 | 2-df test |  |  |  |  |  | 0.96 |  |  | 0.45 |
 | per allele |  |  |  | 1.00 | 0.95 to 1.06 | 0.98 | 0.96 | 0.87 to 1.06 | 0.40 |
BRCA2 | CC | 872 (32.6) | 1,161 (31.8) | 143 (33.7) | 1 | Â | Â | 1 | Â | Â |
 | CT | 1,321 (49.4) | 1,812 (49.6) | 199 (46.9) | 1.04 | 0.94 to 1.16 |  | 0.94 | 0.74 to 1.19 |  |
 | TT | 481 (18.0) | 678 (18.6) | 82 (19.3) | 1.03 | 0.90 to 1.18 |  | 1.01 | 0.75 to 1.38 |  |
 | 2-df test |  |  |  |  |  | 0.74 |  |  | 0.82 |
 | per allele |  |  |  | 1.02 | 0.95 to 1.09 | 0.61 | 1.00 | 0.85 to 1.16 | 0.98 |
11q13 - rs614367 | Â | Â | Â | Â | Â | Â | Â | Â | ||
BRCA1 | CC | 3,439 (72.3) | 4,547 (72.1) | 1,111 (76.2) | 1 | Â | Â | 1 | Â | Â |
 | CT | 1,212 (25.5) | 1,606 (25.5) | 311 (21.3) | 1.02 | 0.94 to 1.11 |  | 0.83 | 0.72 to 0.96 |  |
 | TT | 109 (2.3) | 154 (2.4) | 37 (2.5) | 1.12 | 0.91 to 1.39 |  | 1.20 | 0.81 to 1.76 |  |
 | 2-df test |  |  |  |  |  | 0.52 |  |  | 0.03 |
 | per allele |  |  |  | 1.03 | 0.91 to 1.10 | 0.35 | 0.91 | 0.80 to 1.03 | 0.13 |
BRCA2 | CC | 2,106 (73.5) | 2,716 (71.9) | 333 (73.8) | 1 | Â | Â | 1 | Â | Â |
 | CT | 693 (24.2) | 981 (26.0) | 108 (24.0) | 1.05 | 0.95 to 1.16 |  | 0.95 | 0.74 to 1.21 |  |
 | TT | 66 (2.3) | 83 (2.2) | 10 (2.2) | 0.96 | 0.71 to 1.28 |  | 0.87 | 0.46 to 1.63 |  |
 | 2-df test |  |  |  |  |  | 0.62 |  |  | 0.84 |
 | per allele |  |  |  | 1.03 | 0.94 to 1.12 | 0.56 | 0.94 | 0.77 to 1.15 | 0.56 |
12q24 - rs1292011 | Â | Â | Â | Â | Â | Â | Â | Â | ||
BRCA1 | AA | 997 (34.1) | 1,321 (35.4) | 305 (34.9) | 1 | Â | Â | 1 | Â | Â |
 | AG | 1,406 (48.2) | 1,765 (47.3) | 429 (49.1) | 1.00 | 0.90 to 1.10 |  | 1.11 | 0.93 to 1.31 |  |
 | GG | 517 (17.7) | 645 (17.3) | 140 (16.0) | 1.01 | 0.89 to 1.15 |  | 0.98 | 0.78 to 1.24 |  |
 | 2-df test |  |  |  |  |  | 0.97 |  |  | 0.39 |
 | per allele |  |  |  | 1.00 | 0.94 to 1.07 | 0.91 | 1.01 | 0.91 to 1.13 | 0.82 |
BRCA2 | AA | 715 (35.0) | 907 (35.9) | 110 (36.5) | 1 | Â | Â | 1 | Â | Â |
 | AG | 961 (47.0) | 1222 (48.4) | 137 (45.5) | 1.02 | 0.90 to 1.15 |  | 0.94 | 0.71 to 1.25 |  |
 | GG | 370 (18.1) | 396 (15.7) | 54 (17.9) | 0.83 | 0.70 to 0.97 |  | 0.89 | 0.61 to 1.28 |  |
 | 2-df test |  |  |  |  |  | 0.03 |  |  | 0.80 |
 | per allele |  |  |  | 0.93 | 0.86 to 1.00 | 0.07 | 0.94 | 0.78 to 1.13 | 0.51 |
PTHLH - rs10771399 | Â | Â | Â | Â | Â | Â | Â | Â | ||
BRCA1 | AA | 3,810 (79.8) | 5,179 (81.9) | 1,145 (78.4) | 1 | Â | Â | 1 | Â | Â |
 | AG | 909 (19.0) | 1078 (17.1) | 289 (19.8) | 0.89 | 0.81 to 0.97 |  | 1.09 | 0.93 to 1.26 |  |
 | GG | 56 (1.2) | 65 (1.0) | 27 (1.9) | 0.86 | 0.63 to 1.16 |  | 1.67 | 1.05 to 2.64 |  |
 | 2-df test |  |  |  |  |  | 0.02 |  |  | 0.06 |
 | per allele |  |  |  | 0.90 | 0.83 to 0.97 | 6.4 × 10 -3 | 1.14 | 1.00 to 1.30 | 0.06 |
BRCA2 | AA | 2,289 (79.7) | 3,076 (81.2) | 369 (81.5) | 1 | Â | Â | 1 | Â | Â |
 | AG | 545 (19.0) | 678 (17.9) | 76 (16.8) | 0.94 | 0.84 to 1.06 |  | 0.88 | 0.67 to 1.16 |  |
 | GG | 37 (1.3) | 34 (0.9) | 8 (1.8) | 0.79 | 0.49 to 1.26 |  | 1.48 | 0.63 to 3.46 |  |
 | 2-df test |  |  |  |  |  | 0.38 |  |  | 0.43 |
 | per allele |  |  |  | 0.93 | 0.84 to 1.04 | 0.19 | 0.96 | 0.75 to 1.23 | 0.75 |
9q31.2 - rs865686 | Â | Â | Â | Â | Â | Â | Â | Â | ||
BRCA1 | TT | 1,935 (40.5) | 2,621 (41.5) | 605 (41.3) | 1 | Â | Â | 1 | Â | Â |
 | TG | 2,206 (46.2) | 2,825 (44.7) | 690 (47.1) | 0.94 | 0.88 to 1.01 |  | 0.99 | 0.87 to 1.12 |  |
 | GG | 633 (13.3) | 877 (13.9) | 169 (11.5) | 1.03 | 0.93 to 1.15 |  | 0.85 | 0.70 to 1.03 |  |
 | 2-df test |  |  |  |  |  | 0.12 |  |  | 0.23 |
 | per allele |  |  |  | 1.00 | 0.95 to 1.05 | 0.88 | 0.94 | 0.86 to 1.03 | 0.17 |
BRCA2 | TT | 1,103 (38.4) | 1,576 (41.6) | 179 (39.6) | 1 | Â | Â | 1 | Â | Â |
 | TG | 1400 (48.8) | 1712 (45.2) | 215 (47.6) | 0.85 | 0.77 to 0.94 |  | 0.91 | 0.73 to 1.14 |  |
 | GG | 367 (12.8) | 501 (13.2) | 58 (12.8) | 0.97 | 0.84 to 1.12 |  | 0.98 | 0.71 to 1.35 |  |
 | 2-df test |  |  |  |  |  | 4.6 × 10 -3 |  |  | 0.70 |
 | per allele |  |  |  | 0.94 | 0.88 to 1.01 | 0.10 | 0.97 | 0.83 to 1.13 | 0.67 |