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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 

Original publication

DOI

10.1038/s41467-020-20496-3

Type

Journal article

Journal

Nat Commun

Publication Date

17/02/2021

Volume

12

Keywords

Adult, Alleles, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Linkage Disequilibrium, Middle Aged, Mutation, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Risk Factors