In addition to rs11571833, one further SNP is a coding variant: rs11552449 encodes a missense substitution p.His61Tyr in DCLRE1B (also known as SNM1B), an evolutionarily conserved gene involved in DNA stability and the repair of interstrand cross-links29. The remaining loci are either intronic (20) or intergenic (19). Two loci lie within genes previously proposed as candidate breast cancer susceptibility genes. SNP rs12493607 lies in intron 2 of TGFBR2. An analysis of genes in the transforming growth factor (TGF)-β signaling pathway in European populations found weak evidence of an association between rs4522809 and breast cancer risk (P = 0.02)30. This SNP is weakly correlated with rs12493607 (r2 = 0.25) and also showed some evidence of association in our study, although weaker than that seen for rs12493607 (iCOGS P = 0.00096; combined analysis of GWAS and iCOGS P = 0.0029). A similar analysis of candidate SNPs in Asian populations identified SNP rs1078985 as a potential breast cancer susceptibility variant31. This variant, however, was uncorrelated with rs12493607 in Europeans and showed no evidence of association in our study (P = 0.33 in the
