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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Article info
Publication history
Published online: February 13, 2018
Accepted:
February 9,
2018
Received in revised form:
February 9,
2018
Received:
November 18,
2017
Identification
Copyright
© 2018 Elsevier Inc. All rights reserved.
ScienceDirect
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- Discussion of “Risk management decisions in women with BRCA1 and BRCA2 mutations”The American Journal of SurgeryVol. 215Issue 5
- PreviewThank you for the opportunity to discuss this article. Dr. Massimino and colleagues describe a single-institution retrospective review of their high-risk breast cancer patients who have BRCA 1, 2 or VUS mutations and their treatment decisions after a referral to their institution for genetic counseling and risk reducing operations, chemoprevention therapy and future surveillance.
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