Introduction/Background*Mutations in the BRCA1 or BRCA2 susceptibility genes are associated with most hereditary breast cancers with an identified pathogenic variant. These genes are implicated in about 5-10% of women with familial ovarian cancer. The aim of this study is to evaluate clinicopathological features of ovarian cancer diagnosed in BRCA1/2 mutations carriers.
Methodology A retrospective descriptive study of all women diagnosed with BRCA gene mutations at a high-volume center between January 2007 and October 2020 was performed. Patients‘ history of breast and ovarian cancer was collected. IBM SPSS Statistics® v25.0 was used for statistical analyses.
Result(s)*We included 165 patients diagnosed with BRCA1 and BRCA2 mutation, 114 prophylactic salpingo-oophorectomies were performed. There was 21 diagnosis of ovarian cancer (7 patients among BRCA1 carriers and 14 patients among BRCA2 carriers). The mean age at diagnosis was 48.9 (SD 18.1) and 54.4 (SD 10.)9 years for BRCA1 and BRCA2 respectively (p=0.475).
The most frequent histology was high-grade serous ovarian adenocarcinoma (19 cases), 1 endometrioid carcinoma and 1 serous tubal adenocarcinoma. At the time of diagnosis, the most frequent stage was IIIC (9 cases) followed by stage IV (5 cases).
Regarding the treatment received, 11 primary surgeries were performed, in which primary complete cytoreduction was obtained in 10 of the cases. The other 10 cases received neoadjuvant chemotherapy (NACT) and surgery was subsequently performed. The median follow-up was 89 (EQR 34.5-183.5) months. During this follow-up 6 patients died
Conclusion*To be a BRCA mutation carrier is associated with an increased risk of ovarian cancer at earlier ages than the general population, with no significant differences between the two types of mutation. The most frequent histology was high-grade serous ovarian adenocarcinoma and the most frequent stage at diagnosis was IIIC.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.