Clinical characteristics and choices regarding risk-reducing surgery in BRCA mutation carriers.
OBJECTIVE
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.


CONCLUSIONS
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.
Stuckey
Ashley
A
Cancer 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.
Dizon
Don
D
Scalia Wilbur
Jennifer
J
Kent
Jessica
J
Tejada-Berges
Trevor
T
Gass
Jennifer
J
Legare
Robert
R
D000293:Adolescent; D000328:Adult; D000368:Aged; D051017:Apoptosis Regulatory Proteins; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics / Q000517:prevention & control*; D004651:Employment; D005185:Fallopian Tube Neoplasms / Q000235:genetics / Q000517:prevention & control; D005187:Fallopian Tubes / Q000601:surgery; D005260:Female; D006801:Humans; D017533:Marital Status; D008408:Mastectomy; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics / Q000517:prevention & control*; D010052:Ovariectomy; D010298:Parity; D057240:Patient Preference; D011247:Pregnancy; D012189:Retrospective Studies
D051017:Apoptosis Regulatory Proteins; C118024:BLID protein, human; D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human