Analysis and comparison of BRCA1/2 gene mutations in 310 cases of ovarian cancer

Abstract

Abstract Background The risk of ovarian cancer is increased in patients with BRCA1/2 gene mutation, and there are racial and regional differences in BRCA1/2 gene mutation. The aim of this study was to investigate the BRCA gene mutation and its clinical characteristics in ovarian cancer patients in Zhejiang Province, China, analyze its difference from other regions of ovarian cancer. Methods 310 patients with ovarian cancer were enrolled and their BRCA1/2 mutations were detected. Patients' age, clinical diagnosis, histopathological diagnosis, and preoperative serum CA125 and HE4 levels were collected. The mutation rates and common mutants of BRCA1/2 gene in ovarian cancer in several countries were collected. Results A total of 310 patients with non-selective ovarian cancer were selected for this study, of whom 87 (28.1%) had BRCA1/2 gene mutations, including 64 (20.1%) BRCA1 mutations and 23 (8%) BRCA2 mutations.There were four main types of BRCA mutations in 87 patients: frame shift mutations (57.5%), nonsense mutations (26.4%), missense mutations (13.8%), and splicing mutations (2.3%). There were 45 mutations in patients with BRCA1 mutations, of which c.5470-5477del and c.981-982del mutations were the most frequent. 22 mutations were found in patients with BRCA2 mutations, of which c.6373-6374insA mutations were the most frequent. preoperative serum levels of CA125 and HE4 in patients with BRCA1/2 mutations were higher than those in patients without BRCA2 mutations. The differences in CA125 and HE4 levels between patients with BRCA1/2 mutations and patients without mutations were statistically significant (P < 0.001). The differences in age and pathology type between patients with BRCA1/2 mutations and those without mutations were not statistically significant (P > 0.005). Conclusions Preoperative tumor markers CA125 and HE4 can be used as an aid to assess BRCA gene mutations in ovarian cancer patients. Significant disparities in BRCA1/2 gene mutation rates and variants across countries and regions.