Effect of BRCA1 and BRCA2 mutations on endometrial carcinoma survival rates

Abstract

Background: To evaluate Effect of BRCA1 and BRCA2 mutations on endometrial carcinoma survival rates. Methods : Data were collected from The Cancer Genome Atlas endometrial cancer database for pathogenic mutations in BRCA1 (58) and BRCA2 (77), coexisting BRCA1 /2 mutations (40), and non-mutations (461). Clinicopathological features and survival rates were compared. Survival time was analyzed using combined data and Cox proportional hazard models, with BRCA1 and BRCA2 as time-varying covariates. Results: Patients with BRCA1 mutations presented with higher risk disease (endometrioid endometrial carcinoma grade 3 and uterine serous carcinoma) than non-carriers and BRCA2 mutation carriers ( p = 0.005 non carriers vs BRCA1 mutation carriers, p = 0.008 BRCA1 mutation carriers vs BRCA2 mutation carriers). BRCA1 and BRCA2 mutation carriers tended to have more endometrioid endometrial carcinoma grade 3 than non-carrier group. Overall survival (OS) rates were higher for all patients with BRCA1 and BRCA2 mutations than non-carriers. Patients with BRCA2 mutations had the most favorable progression-free survival (PFS), followed by patients with BRCA1 and BRCA2 co-mutations, and then BRCA1 alteration carriers ( p = 0.011). BRCA1/2 non-carriers had the worst PFS and OS. Conclusions: Patients with BRCA1 mutations presented with higher risk disease than non-carriers and BRCA2 mutation carriers. BRCA1 and BRCA2 mutation carriers had more favorable OS and PFS than non- BRCA mutation carriers in patients with endometrioid endometrial carcinoma and uterine serous carcinoma.