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
Centers for Disease Control and Prevention: US Cancer Statistics, https://nccd.cdc.gov/uscs/toptencancers.aspx. Accessed online 9/28/17.
NCCN Guidelines Version 1.2018 Genetic/Familial High-Risk Assessment: Breast and Ovarian. https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed online 11/17/17.
- Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies.Am J Hum Genet. 2003; 72: 1117-1130
- Meta-analysis of BRCA1 and BRCA2 penetrance.J Clin Oncol. 2007; 25: 1329-1333
- Surgical decision making in the BRCA-positive population: institutional experience and comparison with recent literature.Breast J. 2016; 22: 35-44
- BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.Oncol. 2013; 18: 518-524
- BRCA1 and BRCA2 genetic testing – pitfalls and recommendations for managing variants of uncertain clinical significance.Ann Oncol. 2015; 26 (20-57-2065)
- Gaps in incorporating germline genetic testing into treatment decision-making for early stage breast cancer.J Clin Oncol. 2017; 35: 1-8
- Clinical decision making in patients with variant of uncertain significance in BRCA1 or BRCA2 genes.Ann Surg Oncol. 2017; 24: 3067-3072
- Differences among a modern cohort of BRCA mutation carriers choosing bilateral prophylactic mastectomies compared to breast surveillance.Ann Surg Oncol. 2017; 24: 3048-3054
- Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with BRCA deleterious mutations.Genet Med. 2014; 16: 896-902
- Poor compliance despite equal access: military experience with screening breast MRI in high risk women.in: Oral Abstract Presented at the American College of Surgeons Clinical Congress, San Diego CA. October 2017
- Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE study group.J Clin Oncol. 2004; 22: 1055-1062
- Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress.Clin Genet. 2013; 84: 464-472
- Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions.Genet Med. 2011; 13: 998-1005
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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