Germline Mutations and polymorphisms of BRCA1 and BRCA2 in Sporadic Ovarian Carcinoma / 대한산부인과학회지

ABSTRACT

OBJECTIVE: Mutations in the BRCA1 and BRCA2 genes predispose women to ovarian and/or breast cancer. The purposes of this study were firstly to investigate the presence of BRCA1 and BRCA2 mutations in women with non-hereditary ovarian cancer and secondly to evaluate the relationship between ovarian cancer susceptibility gene polymorphism and clinicopathological features. METHODS: We studied 37 women who received a diagnosis of sporadic ovarian epithelial cancer and were treated at our hospital between August 2002 and March 2004. Genomic DNA was analyzed for BRCA mutations using PCR-DHPLC-sequencing method. And we examined the relationship between ovarian cancer susceptibility gene polymorphism and clinicopathological features using a high- throughput SNP scoring methods. RESULTS: Most mutations of BRCA1 and BRCA2 associated with ovarian and/or breast cancer resulted in truncated proteins. We found one frameshift mutation in BRCA1 (3746insA) led to premature termination. She has no family history of breast and ovarian cancer. There was no relationship between ovarian cancer susceptibility gene polymorphisms and clinicopathological features. CONCLUSION: Our results were consistent with the concept that there was a limited role of BRCA1 and BRCA2 mutations in ovarian carcinogenesis in Korean population and polymorphisms of some selected ovarian cancer susceptibility genes were not associated with the clinicopathological phenotypes of ovarian cancer.