Table 5 Odds ratios for the 11 validated candidate alleles in CHEK2:c.1100delC familial breast cancer and sporadic breast cancer.
From: A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients
Gene/rs number | Cohort | Heterozygous | Homozygous | Wild type | Samples | Allele frequency | Odds ratio CI 95% | P value |
|---|---|---|---|---|---|---|---|---|
PALB2 rs152451 | CHEK2 | 6 | 0 | 64 | 70 | 0.043 | 0.623 [0.256–1.518] | 0.293 |
Familial | 48 | 7 | 327 | 383 | 0.081 | 1.228 [0.792–1.904] | 0.357 | |
Sporadic | 31 | 4 | 262 | 297 | 0.066 | 0.977 [0.605–1.579] | 0.925 | |
Controls | 27 | 3 | 216 | 246 | 0.067 | 1 | ||
PRDM1 rs811925 | CHEK2 | 26 | 1 | 44 | 71 | 0.197 | 1.087 [0.679–1.739] | 0.728 |
Familial | 129 | 18 | 243 | 390 | 0.211 | 1.187 [0.895–1.574] | 0.232 | |
Sporadic | 103 | 12 | 200 | 315 | 0.201 | 1.117 [0.831–1.503] | 0.463 | |
Controls | 76 | 9 | 170 | 255 | 0.184 | 1 | ||
ADAM19 rs2287749 | CHEK2 | 18 | 2 | 50 | 70 | 0.157 | 1.126 [0.671–1.891] | 0.653 |
Familial | 103 | 7 | 256 | 366 | 0.160 | 1.149 [0.837–1.578] | 1.149 | |
Sporadic | 71 | 3 | 230 | 304 | 0.127 | 0.876 [0.621–1.236] | 0.451 | |
Controls | 59 | 7 | 191 | 257 | 0.142 | 1 | ||
CYP4B1 rs2297809 | CHEK2 | 16 | 3 | 47 | 65 | 0.167 | 1.005 [0.600–1.681] | 0.985 |
Familial | 81 | 14 | 255 | 350 | 0.156 | 0.927 [0.678–1.266] | 0.632 | |
Sporadic | 45 | 17 | 227 | 289 | 0.137 | 0.795 [0.569–1.111] | 0.179 | |
Controls | 63 | 10 | 177 | 250 | 0.166 | 1 | ||
VWF rs7962217 | CHEK2 | 6 | 0 | 64 | 70 | 0.043 | 0.640 [0.261–1.566] | 0.325 |
Familial | 38 | 3 | 340 | 381 | 0.058 | 0.876 [0.545–1.408] | 0.583 | |
Sporadic | 21 | 3 | 279 | 303 | 0.044 | 0.666 [0.392–1.133] | 0.131 | |
Controls | 25 | 3 | 209 | 237 | 0.065 | 1 | ||
CASP10 rs17860405 | CHEK2 | 8 | 1 | 60 | 69 | 0.072 | 1.078 [0.520–2.236] | 0.840 |
Familial | 25 | 0 | 342 | 367 | 0.034 | 0.487 [0.288–0.823] | 0.006 | |
Sporadic | 19 | 0 | 270 | 289 | 0.033 | 0.469 [0.265–0.831] | 0.008 | |
Controls | 27 | 4 | 228 | 259 | 0.067 | 1 | ||
DLG1 rs34492126 | CHEK2 | 8 | 0 | 63 | 71 | 0.056 | 1.155 [0.505–2.642] | 0.732 |
Familial | 41 | 2 | 344 | 387 | 0.058 | 1.194 [0.713–2.001] | 0.499 | |
Sporadic | 34 | 0 | 266 | 300 | 0.057 | 1.162 [0.675–2.001] | 0.587 | |
Controls | 19 | 2 | 213 | 234 | 0.049 | 1 | ||
CDK5RAP2 rs34523498 | CHEK2 | 5 | 0 | 65 | 71 | 0.036 | 1.125 [0.405–3.126] | 0.791 |
Familial | 24 | 0 | 358 | 382 | 0.031 | 0.985 [0.518–1.874] | 0.963 | |
Sporadic | 22 | 1 | 285 | 309 | 0.039 | 1.231 [0.647–2.344] | 0.526 | |
Controls | 14 | 1 | 236 | 251 | 0.032 | 1 | ||
TP53RK rs34983477 | CHEK2 | 10 | 0 | 60 | 70 | 0.071 | 1.133 0.538–2.386] | 0.743 |
Familial | 33 | 2 | 327 | 362 | 0.051 | 0.793 [0.481–1.309] | 0.363 | |
Sporadic | 30 | 2 | 255 | 287 | 0.059 | 0.927 [0.556–1.546] | 0.927 | |
Controls | 19 | 5 | 204 | 228 | 0.063 | 1 | ||
SIGIRR rs117739035 | CHEK2 | 5 | 0 | 65 | 70 | 0.0357 | 0.784 [0.293–2.102] | 0.628 |
Familial | 45 | 0 | 349 | 394 | 0.057 | 1.282 [0.766–2.147] | 0.342 | |
Sporadic | 28 | 0 | 288 | 316 | 0.044 | 0.982 [0.558–1.726] | 0.948 | |
Controls | 23 | 0 | 232 | 255 | 0.045 | 1 | ||
NELL1 rs8176786 | CHEK2 | 3 | 1 | 46 | 53 | 0.031 | 0.392 [0.136–1.131] | 0.073 |
Familial | 36 | 2 | 348 | 386 | 0.052 | 0.546 [0.340–0.879] | 0.011 | |
Sporadic | 33 | 2 | 264 | 297 | 0.055 | 0.588 [0.358–0.967] | 0.035 | |
Controls | 24 | 5 | 158 | 187 | 0.091 | 1 |
