Table 1.
Association between susceptibility loci and breast cancer risk overall among a total of up to 29 studies in populations of European background with data on ER and/or PR status
| Locus | Neighborhood genes | rs number | n studiesa | Controls | mafb in controls | Cases | OR | 95% CI | P-value |
|---|---|---|---|---|---|---|---|---|---|
| Susceptibility loci identified in GWAS | |||||||||
| 10q26 | FGRF2 | rs2981582 (C/T)c | 27 | 33 908 | 0.38 | 25 182 | 1.22 | 1.19–1.25 | 1.5 × 10−59 |
| 16q12 | TOX3/LOC643714 | rs3803662 (C/T) | 29 | 34 857 | 0.27 | 26 671 | 1.24 | 1.20–1.27 | 3.0 × 10−59 |
| 5q11 | MAP3K1/MGC33648/MIER3 | rs889312 (A/C) | 28 | 34 325 | 0.28 | 25 830 | 1.11 | 1.08–1.14 | 7.1 × 10−16 |
| 8q24 | FAM84B/c-MYC | rs13281615 (A/G) | 26 | 29 849 | 0.41 | 23 172 | 1.11 | 1.08–1.13 | 3.5 × 10−15 |
| 11p15 | LSP1/H19 | rs3817198 ((T/C) | 24 | 31 891 | 0.31 | 23 879 | 1.06 | 1.03–1.09 | 1.0 × 10−05 |
| 2q35 | TNP1/IGFBP5/IGFBP2/TNS1 | rs13387042 (G/A) | 25 | 38 120 | 0.52 | 26 334 | 1.14 | 1.12–1.17 | 1.7 × 10−29 |
| 3p24 | SLC4A7/NEK10 | rs4973768 (C/T) | 21 | 34 386 | 0.46 | 22 506 | 1.11 | 1.09–1.14 | 1.1 × 10−17 |
| 17q23 | COX11/STXBP4/TOM1L1 | rs6504950 (G/A) | 26 | 34 236 | 0.28 | 26 204 | 0.94 | 0.92–0.97 | 3.2 × 10−05 |
| Putative susceptibility loci in candidate genes | |||||||||
| 2q33-q34 | CASP8 | rs1045485; rs17468277 (G/C;C/T) | 23 | 36 976 | 0.13 | 24 406 | 0.95 | 0.92–0.98 | 0.004 |
| 19q13 | TGFB1 | rs1982073 (G/C) | 17 | 27 745 | 0.38 | 16 123 | 1.04 | 1.02–1.08 | 0.003 |
aFor none of the 10 SNPs, genotype data were available from all 31 studies. Studies in Asian populations are not included in this table (MEC-Japanese, TBCS, TWBCS; see Supplementary Material, Table S7 for estimates in studies of Asian populations). Analyses included only cases with tumor marker information (defined as having at least information on ER and/or PR status).
bMinor allele frequency.
cMajor/minor allele.
Small differences in point estimates and significance levels compared with previous publications are due to the different inclusion/exclusion criteria for cases and controls. P-value <0.05 was used to select findings mentioned in the results and discussion sections, and indicated in bold-face. Findings were interpreted in light of the strength of evidence based on the estimated OR's, 95% CI, P-values and prior knowledge of the hypothesis being tested.