Risk management decisions in women with BRCA1 and BRCA2 mutations. - PubMed - NCBI
Am J Surg.
2018 Feb 13. pii: S0002-9610(17)31657-4. doi: 10.1016/j.amjsurg.2018.02.010. [Epub ahead of print]
Risk management decisions in women with BRCA1 and BRCA2 mutations.
Pathogenic mutations and variants of uncertain significance (VUS) occur in BRCA1/2 genes.
Records of women with a pathogenic mutation or VUS in BRCA1/2 treated between 2008 and 2017 were reviewed.
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.
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.
Copyright © 2018 Elsevier Inc. All rights reserved.
BRCA; Breast cancer; Genetic testing; Variants of uncertain significance
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