Uptake Rate of Risk-Reducing Salpingo-Oophorectomy and Surgical Outcomes of Female Germline BRCA1/2 Mutation Carriers: A Retrospective Cohort Study

Abstract

Purpose This study investigated the uptake rate of risk-reducing salpingo-oophorectomy (RRSO) and surgical outcomes of germline BRCA1/2 mutation carriers at Seoul National University Hospital (SNUH). Materials and Methods We examined the records of 824 women who underwent germline BRCA1/2 gene testing at SNUH between 2005 and 2020. Among them, we identified women with a pathogenic mutation on either the BRCA1 or the BRCA2 gene, and excluded ovarian cancer patients. Characteristics of participants who underwent RRSO (RRSO group) were compared to those who did not (non-RRSO group). Surgical outcomes and pathologic results were investigated in the RRSO group. Results There were 117 BRCA1/2 mutation carriers included in the analysis. The uptake rate of RRSO was 70.1% (82/117). Older age (mean: 48.8 years vs. 42.1 years; p =0.002) and higher employment rate (65.9% vs. 14.3%; p <0.001) were observed in the RRSO group compared to the non-RRSO group. However, no differences in other factors, such as personal and family history of breast cancer, were observed between the two groups. In the RRSO group, the median time interval between the genetic test and RRSO was 10.0 months, and there were three (3.7%) incidental cases of high-grade serous carcinoma. However, one patient in the non-RRSO group developed primary peritoneal cancer after 103.8 months of surveillance. Conclusion The uptake rate of RRSO in BRCA1/2 mutation carriers was about 70%. Considering incidental cancer cases in women without abnormal findings on preoperative evaluation, BRCA1/2 -mutated women might refrain from the delayed implementation of RRSO after the genetic test.

BRCA1 mutation promotes sprouting angiogenesis in inflammatory cancer-associated fibroblast of triple-negative breast cancer

“…Breast cancer-associated (BRCA) tumor suppressor genes play crucial roles in DNA damage repair, recombination, cell-cycle arrest, apoptosis and transcription regulation (8). Mutation in BRCA genes are associated with a high risk of developing breast cancer (9,10). Approximately 55-72% of women carrying a harmful BRCA1 gene variant, and around 45-69% of those with a harmful BRCA2 gene variant are expected to develop breast cancer during their 70 to 80 years of life (11,12).…”