The yield of full BRCA1 / 2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations

摘要

Purpose BRCA1 and BRCA2 genotyping results have clinical implications for cancer risk assessment and targeted therapy. Current practice in Israel is to genotype for the predominant BRCA1 / 2 mutations first, followed by full gene analysis in eligible mutation-negative individuals. This work assessed the rate of non-predominant mutations in BRCA1 / 2 in ethnically diverse high-risk cases. Methods Breast and/or ovarian cancer patients who tested negative for the predominant BRCA1 / 2 mutations were referred for comprehensive BRCA1 / 2 genotyping if calculated risk for carrying a BRCA mutation was ≥?10%. Results Of 1258 eligible patients, 41 (3.3%) carried one of 38 mutations: 3% of Ashkenazi Jews and 3.4% of mixed ethnicities. Detection rate was