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. 2018 May;215(5):899-903.
doi: 10.1016/j.amjsurg.2018.02.010. Epub 2018 Feb 13.

Risk management decisions in women with BRCA1 and BRCA2 mutations

Rosemary Morgan  1 , Audrey Brown  2 , Kelly Jo Hamman  3 , Jone Sampson  3 , Arpana Naik  1 , Kristen Massimino  4
Affiliations

Risk management decisions in women with BRCA1 and BRCA2 mutations

Rosemary Morgan et al. Am J Surg. 2018 May.

Abstract

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.

Keywords: BRCA; Breast cancer; Genetic testing; Variants of uncertain significance.

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