title: Germline mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma.
abstract: OBJECTIVE
  Mutations in the BRCA1 and BRCA2 genes predispose women to ovarian and/or breast cancer. The contribution of BRCA1 and BRCA2 mutations to ovarian cancer in Korean women remains to be elucidated. In addition, genetic polymorphisms may affect not only cancer development but also cancer progression and, as a result, could influence cancer phenotypes. The purposes of this study were, first, to investigate the presence of BRCA1 and BRCA2 mutations in women with ovarian cancer who were unselected for family history and, second, to evaluate the relationship between ovarian cancer susceptibility gene polymorphisms and clinicopathological features.
  
  
  METHODS
  We studied 37 women who were diagnosed with epithelial ovarian cancer and treated at the Yonsei University Hospital between August 2002 and March 2004. Genomic DNA was analyzed for BRCA mutations using a PCR-DHPLC-sequencing method. The relationship between ovarian cancer susceptibility gene polymorphisms and clinicopathological features was examined.
  
  
  RESULTS
  Most mutations of BRCA1 and BRCA2 associated with ovarian and/or breast cancer result in truncated proteins. We found one frameshift mutation in BRCA1 (3746insA) that led to premature termination. The patient had no family history of breast or ovarian cancer. There was no relationship between ovarian cancer susceptibility gene polymorphisms and clinicopathological features.
  
  
  CONCLUSIONS
  Our results were consistent with the hypothesis that BRCA1 and BRCA2 mutations have a limited role in sporadic ovarian carcinogenesis in the Korean population. Furthermore, polymorphisms of certain, selected ovarian cancer susceptibility genes were not associated with the clinicopathological phenotypes of ovarian cancer.
authors.affiliation: Division of Gynecolgic Oncology, Department of Obstetrics and Gynecology, Institute of Women's Life Science, Yonsei University College of Medicine, C.P.O. Box 8044, Seoul 120-752, South Korea. ytkchoi@yumc.yonsei.ac.kr
authors.forename: Young Tae
authors.initials: YT
authors.lastname: Kim
authors.forename: Eun Ji
authors.initials: EJ
authors.lastname: Nam
authors.forename: Bo Sung
authors.initials: BS
authors.lastname: Yoon
authors.forename: Sang Wun
authors.initials: SW
authors.lastname: Kim
authors.forename: Sung Hoon
authors.initials: SH
authors.lastname: Kim
authors.forename: Jae Hoon
authors.initials: JH
authors.lastname: Kim
authors.forename: Hyun Ki
authors.initials: HK
authors.lastname: Kim
authors.forename: Ja Seong
authors.initials: JS
authors.lastname: Koo
authors.forename: Jae Wook
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007723:Korea; D008875:Middle Aged; D009367:Neoplasm Staging; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D011110:Polymorphism, Genetic