Table 1. Association of SNVs close to the MAP3K1 gene with somatic PIK3CA variants, two cohorts.
| SNV | Ellis 2012 pilot data set | TCGA-BRCA (ER+) data set | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Name/allele | HGVS ID | Distance (kbases) from MAP3K1 | OR (95% CI) | P-value | Patients | Allele freq | OR (95% CI) | P-value | Patients | Allele freq |
| rs889312 A | hg19.chr5:g.56031884A>C | −79.0 | Inf (0.69, Inf) | 0.09 | 45 | 0.64 | 0.90 (0.33, 2.51) | 1 | 112 | 0.66 |
| rs832552 T | hg19.chr5:g.56113850T>G | <> | 6.48 (1.18, 48.3) | 0.03 | 45 | 0.5 | 1.55 (0.58, 4.24) | 0.48 | 91 | 0.5 |
| rs252913 G | hg19.chr5:g.56195846G>A | 3.9 | 5.29 (0.88, 40.0) | 0.06 | 45 | 0.51 | 2.97 (1.17, 7.75) | 0.01 | 177 | 0.57 |
| rs331499 A | hg19.chr5:g.56210923A>G | 18.9 | 3.40 (0.70, 17.7) | 0.15 | 45 | 0.51 | 1.75 (1.11, 2.77) | 0.02 | 541 | 0.56 |
Abbreviations: <>, inside; Distance, SNV distance from gene start or end (the shortest); OR, odds ratio; CI, confidence interval for OR; P-value, P-value from Fisher's exact test.