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Germline Mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma

Authors
 Young Tae Kim  ;  Eun Ji Nam  ;  Bo Sung Yoon  ;  Sang Wun Kim  ;  Sung Hoon Kim  ;  Jae Hoon Kim  ;  Hyun Ki Kim  ;  Ja Seong Koo  ;  Jae Wook Kim 
Citation
 GYNECOLOGIC ONCOLOGY, Vol.99(3) : 585-590, 2005 
Journal Title
GYNECOLOGIC ONCOLOGY
ISSN
 0090-8258 
Issue Date
2005
MeSH
Adolescent ; Adult ; Aged ; Female ; Genes, BRCA1* ; Genes, BRCA2* ; Genetic Predisposition to Disease ; Germ-Line Mutation* ; Humans ; Korea ; Middle Aged ; Neoplasm Staging ; Ovarian Neoplasms/genetics* ; Ovarian Neoplasms/pathology ; Polymorphism, Genetic
Keywords
BRCA1 ; BRCA2 ; Germline mutation ; Ovarian carcinoma ; Polymorphism
Abstract
OBJECTIVES: 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.
CONCLUSION: 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.
Full Text
http://www.sciencedirect.com/science/article/pii/S0090825805005081
DOI
10.1016/j.ygyno.2005.06.058
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Obstetrics and Gynecology (산부인과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Sang Wun(김상운) ORCID logo https://orcid.org/0000-0002-8342-8701
Kim, Sung Hoon(김성훈) ORCID logo https://orcid.org/0000-0002-1645-7473
Kim, Young Tae(김영태) ORCID logo https://orcid.org/0000-0002-7347-1052
Kim, Jae Wook(김재욱)
Kim, Jae Hoon(김재훈) ORCID logo https://orcid.org/0000-0001-6599-7065
Kim, Hyunki(김현기) ORCID logo https://orcid.org/0000-0003-2292-5584
Yoon, Bo Sung(윤보성)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/151260
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