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Clinical characteristics and choices regarding risk-reducing surgery in BRCA mutation carriers
Ashley Stuckey1, Don Dizon, Jennifer Scalia Wilbur
1Cancer Risk and Prevention Program and The Breast Health Center Program in Women's Oncology, The Warren Alpert Medical School of Brown University, Providence, R.I., USA.
Background/Aims:
BRCA mutation carriers have a high lifetime risk of developing breast and ovarian malignancies. As genetic testing becomes widely available, preventative measures are a choice. We evaluated the characteristics of BRCA mutation carriers who chose prophylactic surgery (PS) compared to those who opted for surveillance.
Methods:
A retrospective chart review of patients with a mutation in the BRCA1 or BRCA2 genes was performed.
Results:
Ninety women were included, of whom 46 (51%) underwent PS. They were more likely to be a BRCA2 mutation carrier, parous, married, employed, and had a prior history of breast cancer. PS included 39 bilateral salpingo-oophorectomies and 13 mastectomies. Pathology was typically benign; however, 15% showed ductal carcinoma in situ of the breast, 8% reported infiltrating ductal carcinoma of the breast, 3% was adenocarcinoma of the fallopian tube, and 3% was adenocarcinoma of the ovary.
Conclusion:
It is notable that BRCA1 mutation carriers were less inclined to elect for PS. Evaluating the reasons for pursuing PS among women with a BRCA mutation is necessary and will require a larger data set. Long-term follow-up is required to describe the potential side effects of PS on quality of life.
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