We used data from two international consortia, BCAC64 and CIMBA56. BCAC included data from 108 studies of BC from 33 countries in North America, Europe and Australia, the majority (88%) of which were case-control studies. The majority of BCAC cases/controls were not tested for BRCA1/2 mutations at the time of enrolment. However, most studies were population-based, hence the proportion of cases and controls that carry pathogenic BRCA1/2 mutations will be small. CIMBA participants were women with pathogenic mutations in BRCA1 or BRCA2. All participants were at least 18 years old. The majority of mutation carriers were recruited through cancer genetics clinics and enroled into national or regional studies. Data were available on 30,500 BRCA1 mutation carriers and 20,500 BRCA2 mutation carriers from 77 studies in 32 countries. A total of 188,320 BC cases and 161,669 controls were available from both consortia. All studies provided information on disease status, age at diagnosis or at interview. Oestrogen receptor status was available for 72% of BCAC cases and 71% of CIMBA cases. All subjects provided written informed consent and participated in studies with protocols approved by ethics committees at each participating institution.

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