Risk Management Decisions in Women with BRCA1 and BRCA2 Mutations

Introduction: Pathogenic mutations and variants of uncertain significance (VUS) occur in BRCA1/2 genes.

Methods: Records of women with a pathogenic mutation or VUS in BRCA1/2 treated between 2008 and 2017 were reviewed.

Results: One hundred and ten women were included. Mean age was 47. A pathogenic mutation or a VUS in BRCA1/2 was detected in 85 (77%) and 25 (23%) patients, respectively. The rate of risk reducing mastectomy (RRM) was 50% in women with a pathogenic mutation and 30% in women with a VUS (P = 0.232). Among women with breast cancer, 65% with a pathogenic mutation and 40% with a VUS underwent RRM. Over 50% of women with a pathogenic mutation in BRCA1/2 chose surveillance over operation.

Discussion: There was no statistical difference in the rate of RRM among women with a pathogenic mutation or a VUS in BRCA1/2 in our population. The majority of high risk women in our study chose to forgo RRM for breast cancer screening.