Risk management decisions in women with BRCA1 and BRCA2 mutations

Rosemary Morgan, Audrey Brown, Kelly Hamman, Jone Sampson, Arpana Naik, Kristen Massimino

Research output: Contribution to journalArticle

4 Scopus citations

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.

Original languageEnglish (US)
JournalAmerican Journal of Surgery
DOIs
Publication statusAccepted/In press - Jan 1 2018

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Keywords

  • BRCA
  • Breast cancer
  • Genetic testing
  • Variants of uncertain significance

ASJC Scopus subject areas

  • Surgery

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