Table 2.
Risk of contralateral breast cancer associated with single-nucleotide polymorphisms reported in prior breast cancer genome-wide association studies
| SNP a | Gene region | Genotype | Cases (CBC) | Controls (UBC) | Per-allele rate ratiob (95% CI) trend | Heterozygous rate ratiob (95% CI) | Homozygous rate ratiob (95% CI) | P value c |
|---|---|---|---|---|---|---|---|---|
| rs2981582 | FGFR2 | GG | 204 | 449 | 1.20 (1.04-1.40) | 1.26 (0.99-1.60) | 1.45 (1.08-1.95) | 0.01 |
| AG | 351 | 672 | ||||||
| AA | 149 | 268 | ||||||
| rs1219648 | FGFR2 | AA | 183 | 433 | 1.25 (1.08-1.45) | 1.36 (1.07-1.74) | 1.55 (1.15-2.08) | 0.003 |
| AG | 360 | 676 | ||||||
| GG | 162 | 281 | ||||||
| rs12443621 | TOX3 | GG | 173 | 350 | 1.03 (0.89-1.19) | 1.03 (0.80-1.32) | 1.06 (0.79-1.42) | 0.70 |
| (TNRC9) | AG | 355 | 710 | |||||
| AA | 177 | 326 | ||||||
| rs8051542 | TOX3 | GG | 215 | 421 | 0.96 (0.82-1.11) | 0.81 (0.64-1.04) | 0.94 (0.70-1.27) | 0.57 |
| (TNRC9) | AG | 344 | 709 | |||||
| AA | 144 | 261 | ||||||
| rs3803662 | TOX3 | CC | 306 | 640 | 1.16 (0.99-1.36) | 1.08 (0.87-1.35) | 1.43 (1.01-2.01) | 0.06 |
| (TNRC9) | CT | 309 | 606 | |||||
| TT | 88 | 143 | ||||||
| rs889312 | MAP3K1 | AA | 343 | 658 | 0.99 (0.85-1.17) | 0.95 (0.76-1.18) | 1.02 (0.70-1.47) | 0.93 |
| AC | 296 | 597 | ||||||
| CC | 67 | 131 | ||||||
| rs3817198 | LSP1 | AA | 320 | 650 | 1.08 (0.93-1.27) | 1.12 (0.90-1.40) | 1.12 (0.79-1.60) | 0.31 |
| AG | 309 | 600 | ||||||
| GG | 76 | 140 | ||||||
| rs2107425 | H19 | CC | 325 | 673 | 0.97 (0.83-1.14) | 1.01 (0.81-1.25) | 0.88 (0.62-1.26) | 0.74 |
| CT | 311 | 569 | ||||||
| TT | 67 | 146 | ||||||
| rs13281615 | 8q24 | AA | 201 | 420 | 1.21 (1.04-1.40) | 1.06 (0.83-1.35) | 1.49 (1.11-2.01) | 0.01 |
| AG | 338 | 720 | ||||||
| GG | 166 | 250 | ||||||
| rs30099 | 5q11 | GG | 571 | 1,125 | 0.92 (0.72-1.18) | 0.99 (0.76-1.30) | 0.50 (0.18-1.35) | 0.50 |
| AG | 128 | 244 | ||||||
| AA | 8 | 15 | ||||||
| rs4666451 | 2p24 | GG | 286 | 524 | 0.95 (0.82-1.10) | 0.86 (0.68-1.08) | 0.96 (0.71-1.31) | 0.49 |
| AG | 310 | 669 | ||||||
| AA | 106 | 197 | ||||||
| rs13387042d | 2q35 | GG | 152 | 326 | 1.19 (1.02-1.37) | 1.12 (0.86-1.47) | 1.39 (1.04-1.85) | 0.02 |
| AG | 327 | 669 | ||||||
| AA | 225 | 391 | ||||||
| rs11235127 | TMEM135 | GG | 476 | 977 | 1.26 (1.04-1.53) | 1.12 (0.88-1.41) | 2.29 (1.32-4.00) | 0.02 |
| AG | 194 | 373 | ||||||
| AA | 35 | 39 | ||||||
| rs7313833 | PTHLH | GG | 272 | 616 | 1.26 (1.08-1.47) | 1.24 (1.00-1.55) | 1.65 (1.18-2.31) | 0.003 |
| AG | 329 | 625 | ||||||
| AA | 103 | 139 | ||||||
| rs16998733 | 4q31 | GG | 556 | 1,071 | 0.87 (0.69-1.10) | 0.77 (0.59-1.00) | 1.48 (0.65-3.37) | 0.25 |
| AG | 134 | 291 | ||||||
| AA | 11 | 21 | ||||||
| rs1318703 | 16p31 | AA | 240 | 485 | 1.40 (0.90-1.20) | 1.06 (0.84-1.34) | 1.11 (0.82-1.50) | 0.63 |
| AG | 327 | 646 | ||||||
| GG | 133 | 234 | ||||||
| rs4331913 | 5p13 | GG | 247 | 454 | 0.98 (0.84-1.14) | 0.94 (0.75-1.19) | 0.98 (0.72-1.33) | 0.77 |
| AG | 343 | 700 | ||||||
| AA | 116 | 230 | ||||||
| rs4954956 | 2p21 | GG | 367 | 748 | 1.03 (0.88-1.21) | 1.03 (0.83-1.28) | 1.06 (0.72-1.57) | 0.71 |
| AG | 287 | 532 | ||||||
| AA | 53 | 109 | ||||||
| rs6469633 | 8q23 | TT | 383 | 791 | 1.05 (0.88-1.25) | 1.11 (0.89-1.38) | 0.96 (0.62-1.50) | 0.58 |
| TC | 278 | 509 | ||||||
| CC | 43 | 86 | ||||||
| rs981782 | 5p12 | AA | 243 | 423 | 0.90 (0.78-1.05) | 0.84 (0.67-1.07) | 0.84 (0.62-1.12) | 0.18 |
| AC | 334 | 693 | ||||||
| CC | 127 | 271 | ||||||
| rs7696175 | 4p14 | GG | 268 | 457 | 0.88 (0.76-1.02) | 0.89 (0.70-1.11) | 0.77 (0.57-1.04) | 0.09 |
| AG | 319 | 663 | ||||||
| AA | 118 | 266 |
aSingle-nucleotide polymorphisms (SNPs) selected from among the most significantly associated with breast cancer in the genome-wide association studies by Easton and colleagues [7], Hunter and colleagues [8], and Stacey and colleagues [9] described further in the 'Single-nucleotide polymorphism selection' section of Materials and methods. bRate ratio adjusted for age at diagnosis of first primary tumor and counter-matching weight. cP value with 1 degree of freedom for the association of per-allele SNP genotype and contralateral breast cancer (CBC) risk. dFor rs13387402, A is not the minor allele in this study population. CI, confidence interval; UBC, unilateral breast cancer.