BRCA1 single nucleotide polymorphisms and microsatellite instability in endometrial cancer and their association with patient prognosis in a Chinese population

摘要

Purpose of investigation: This study investigated the presence of breast cancer susceptibility gene 1 (BRCA1) single nucleotide polymorphisms (SNPs) and microsatellite instability (MSI) in Chinese patients with endometrial cancer (EC) and evaluated factors affecting prognosis. Materials and Methods: Polymerase chain reaction-single-strand conformation polymorphism was performed on fresh endometrial tissue to detect SNPs and MSI in five BRCA1 exons. Clinicopathologic features and overall survival were compared between patients with and without polymorphisms and MSI, and a multivariate analysis was performed to identify prognostic factors. Results : There were significant differences in the presence of SNPs and MSI among the three groups. The BRCA1 polymorphism-positive rate was associated with muscular infiltration depth. BRCA1 MSI positivity was related to pathology grade and clinical stage. Pathology grade and polymorphism positivity were independent risk factors affecting the prognosis of EC patients. Conclusions: BRCA1 SNPs or MSI was associated with the occurrence and development of EC.