Clinical Characteristics and Choices Regarding Risk-Reducing Surgery in BRCA Mutation Carriers

Abstract

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.

Uptake of risk-reducing salpingo-oophorectomy among female BRCA mutation carriers: experience at the National Cancer Center of Korea

“…Carriers who had a mother or sister with OC were significantly more likely to undergo RRSO (Bradbury et al 2008;Metcalfe et al 2008;Schwartz et al 2003;Uyei et al 2006). Having a personal history of BC was also significantly associated with RRSO (Beattie et al 2009;Kim et al 2013;Metcalfe et al 2008;Schmeler et al 2006;Stuckey et al 2010;Uyei et al 2006). However, in the current study, neither family history of OC nor personal history of BC affected the uptake rate of RRSO.…”

“…Although inter-center variations, as well as international variations, exist in the uptake rate of RRSO among carriers, Schmeler et al 2006;Stuckey et al 2010). Such variations in uptake rates may arise from differences in the characteristics of the cohorts, selection of study populations, detailed contents of the consultations, and extent of followup periods throughout the studies.…”

Reasons for Prophylactic Mastectomy in Women Carrying BRCA 1/2 Mutation: A Systematic Literature Review

“…When considering only women with BRCA 1/2 mutation the prevalence of the decisions made are slightly altered. Stuckey et al [20], in a retrospective study of 90 women with BRCA mutation, found that 51% of these women (33% for BRCA 1 mutation carriers and 67% for BRCA 2 mutation) had some kind of prophylactic surgery. Among these, 28% underwent PM and 85% underwent PO.…”

“…The average age of women who undergo mastectomy interventions was quite variable in the analysed studies; the age range was between 37 and 46 years of age, the majority had children and were married [18][19][20][21][22][23][24][25][26][27][28][29][30]. Women with a history of prior breast cancer are more likely to do prophylactic surgery instead of surveillance (p = 0.003) [20].…”

“…Women with a history of prior breast cancer are more likely to do prophylactic surgery instead of surveillance (p = 0.003) [20]. When comparing women with the BRCA mutation with those not tested, the later were older when they were operated (39.1 versus 49.2 years, p < 0.001), had more previous biopsies and mammograms.…”