Korean J Obstet Gynecol.  2005 Jun;48(6):1466-1475.

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

• Nam EJ
• Kim YT
• Kim SH
• Kim JH
• Koo JS
• Kim SW
• Kim JW
• Kim HK

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.

Keyword

BRCA1; BRCA2; Germline mutation; Sporadic ovarian carcinoma; Polymorphism

MeSH Terms

Breast
Breast Neoplasms
Carcinogenesis
Diagnosis
DNA
Female
Frameshift Mutation
Genes, BRCA2
Germ-Line Mutation*
Humans
Ovarian Neoplasms
Phenotype
Research Design
DNA