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Risk management decisions in women with BRCA1 and BRCA2 mutations

Published:February 13, 2018DOI:https://doi.org/10.1016/j.amjsurg.2018.02.010

      Highlights

      • Majority of women with BRCA1/2 mutation chose surveillance over risk reducing mastectomy.
      • Rate of risk reducing mastectomy was similar among women with pathogenic BRCA1/2 mutation and VUS.
      • No woman with VUS underwent risk reducing mastectomy in the absence of breast cancer.

      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

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      References

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