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Breast cancer (BC) risk for  BRCA1  and  BRCA2  mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with  BRCA1  or  BRCA2  mutations. We identify robust novel associations for 2 variants with BC for  BRCA1  and 3 for  BRCA2  mutation carriers,  P  < 10 −8 , at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where  MADD ,  SP11  and  EIF1 , genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for  BRCA1  and  BRCA2  mutation carriers.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers