TABLE 2.
ESR1 locus variants and TP53 mutation associations
| SNV Ref Allele | rs9397436 T | rs9383938 G | rs9479090 A | |||
|---|---|---|---|---|---|---|
| TP53 Mutation | Any | LOF | GOF | Any | GOF | Any |
| Discovery Cases/Controls | 853/1,797 | 516/1,797 | 236/1,797 | 1,073/2,242 | 292/2,242 | 1,106/2,303 |
| Discovery OR | 1.53 | 1.48 | 1.79 | 1.46 | 1.71 | 1.44 |
| Discovery P | 1.39E-05 | 6.9E-04 | 1.1E-04 | 6.8E-05 | 3.5E-05 | 5.4E-05 |
| Discovery MAF | 8.4% | 10.0% | 11.0% | |||
| EUR Valid Cases/Controls | 217/356 | 132/356 | 67/356 | 130/227 | 34/227 | 215/357 |
| EUR Valid OR | 1.14 | 1.04 | 1.17 | 1.04 | 0.96 | 1.06 |
| EUR Valid P | 0.55 | 0.89 | 0.66 | 0.87 | 0.92 | 0.8 |
| EUR MAF | 9.4% | 9.4% | 10.7% | |||
| MyBrCa Cases/Controls | 369/490 | 241/490 | 114/490 | 369/490 | 114/490 | 369/490 |
| MyBrCa OR | 1.43 | 1.35 | 1.51 | 1.81 | 2.07 | 1.76 |
| MyBrCa P | 0.001 | 0.02 | 0.01 | 9.8E-08* | 8.4E-06* | 2.8E-07* |
| MyBrCa MAF | 37.3% | 37.7% | 38.1% | |||
| Combined Cases/Controls | 1,439/2,643 | 889/2,643 | 417/2,643 | 1,572/2,959 | 440/2,959 | 1,690/3,150 |
| Combined OR (95% CI) | 1.35 (1.17–1.54) | 1.24 (1.06–1.46) | 1.53 (1.25–1.88) | 1.47 (1.31–1.66) | 1.59 (1.32–1.90) | 1.42 (1.27–1.59) |
| Combined P | 1.8E-05a | 0.007 | 3.5E-05a | 2.0E-10a | 6.07E-07a | 4.6E-10a |
Abbreviations: 95% CI, 95% confidence interval; EUR Valid, European ancestry Validation Study; GOF, gain of function; LOF, loss of function; MAF, minor allele frequency; OR, odds ratio; P, P values; Ref allele, reference allele.
a Significant after multiple comparisons corrections.