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Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for  BRCA1  and  BRCA2  mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21,  CDKN2A/B) , rs10995190 ( ZNF365) , rs704010 ( ZMIZ1 ), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near  PTHLH)  and rs865686 (9q31.2).    Methods  To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for  BRCA1  and  BRCA2  carriers, we genotyped these SNPs in 12,599  BRCA1  and 7,132  BRCA2  mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework.    Results  Only SNP rs10771399 near  PTHLH  was associated with breast cancer risk for  BRCA1  mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94,  P -trend = 3 × 10 -4 ). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90,  P -trend = 3.1 × 10 -5 ,  P -difference = 0.03). Four SNPs were associated with the risk of breast cancer for  BRCA2  mutation carriers: rs10995190,  P -trend = 0.015; rs1011970,  P -trend = 0.048; rs865686, 2df- P  = 0.007; rs1292011 2df- P  = 0.03. rs10771399 ( PTHLH ) was predominantly associated with estrogen receptor (ER)-negative breast cancer for  BRCA1  mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90,  P -trend = 4 × 10 -5 ) and there was marginal evidence of association with ER-negative breast cancer for  BRCA2  mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00,  P -trend = 0.049).    Conclusions  The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in  BRCA1  and  BRCA2  mutation carriers.

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers