Cohort study of prevalence of BRCA1 and BRCA2 variants in an unselected population of women with breast cancer

The prevalence of pathogenic or likely pathogenic (P/LP) variants in BRCA1 and BRCA2 is not clear, especially in underrepresented populations. The INSPIRE cohort study, at two centers in California, enrolled 2401 unselected women with any stage breast cancer for germline testing. Hispanic women were 2.58 times as likely as non-Hispanic women to carry a P/LP germline mutation in BRCA1 than BRCA2 variants and P/LP variants in BRCA1 were identified in Hispanic women more often than in non-Hispanic women. The authors conclude that universal BRCA1 and BRCA2 testing should be perfomed for all breast cancer patients, especially in women from minoritized racial and ethnic groups.