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Germline Mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma

DC Field Value Language
dc.contributor.author김상운-
dc.contributor.author김상운-
dc.contributor.author김성훈-
dc.contributor.author김영태-
dc.contributor.author김재욱-
dc.contributor.author김재훈-
dc.contributor.author김현기-
dc.contributor.author윤보성-
dc.date.accessioned2017-10-26T06:45:37Z-
dc.date.available2017-10-26T06:45:37Z-
dc.date.issued2005-
dc.identifier.issn0090-8258-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/151260-
dc.description.abstractOBJECTIVES: 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.-
dc.description.statementOfResponsibilityrestriction-
dc.languageEnglish-
dc.publisherAcademic Press-
dc.relation.isPartOfGYNECOLOGIC ONCOLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdolescent-
dc.subject.MESHAdult-
dc.subject.MESHAged-
dc.subject.MESHFemale-
dc.subject.MESHGenes, BRCA1*-
dc.subject.MESHGenes, BRCA2*-
dc.subject.MESHGenetic Predisposition to Disease-
dc.subject.MESHGerm-Line Mutation*-
dc.subject.MESHHumans-
dc.subject.MESHKorea-
dc.subject.MESHMiddle Aged-
dc.subject.MESHNeoplasm Staging-
dc.subject.MESHOvarian Neoplasms/genetics*-
dc.subject.MESHOvarian Neoplasms/pathology-
dc.subject.MESHPolymorphism, Genetic-
dc.titleGermline Mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma-
dc.typeArticle-
dc.publisher.locationUnited States-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Obstetrics and Gynecology (산부인과학교실)-
dc.contributor.departmentDept. of Obstetrics and Gynecology (산부인과학교실)-
dc.contributor.departmentDept. of Obstetrics and Gynecology (산부인과학교실)-
dc.contributor.departmentDept. of Obstetrics and Gynecology (산부인과학교실)-
dc.contributor.departmentDept. of Obstetrics and Gynecology (산부인과학교실)-
dc.contributor.departmentDept. of Pathology (병리학교실)-
dc.contributor.departmentDept. of Obstetrics and Gynecology (산부인과학교실)-
dc.contributor.googleauthorYoung Tae Kim-
dc.contributor.googleauthorEun Ji Nam-
dc.contributor.googleauthorBo Sung Yoon-
dc.contributor.googleauthorSang Wun Kim-
dc.contributor.googleauthorSung Hoon Kim-
dc.contributor.googleauthorJae Hoon Kim-
dc.contributor.googleauthorHyun Ki Kim-
dc.contributor.googleauthorJa Seong Koo-
dc.contributor.googleauthorJae Wook Kim-
dc.identifier.doi10.1016/j.ygyno.2005.06.058-
dc.contributor.localIdA00526-
dc.contributor.localIdA00526-
dc.contributor.localIdA00595-
dc.contributor.localIdA00729-
dc.contributor.localIdA00866-
dc.contributor.localIdA00876-
dc.contributor.localIdA01108-
dc.contributor.localIdA02554-
dc.relation.journalcodeJ00956-
dc.identifier.eissn1095-6859-
dc.identifier.pmid16084575-
dc.identifier.urlhttp://www.sciencedirect.com/science/article/pii/S0090825805005081-
dc.subject.keywordBRCA1-
dc.subject.keywordBRCA2-
dc.subject.keywordGermline mutation-
dc.subject.keywordOvarian carcinoma-
dc.subject.keywordPolymorphism-
dc.contributor.alternativeNameKim, Sang Wun-
dc.contributor.alternativeNameKim, Sang Wun-
dc.contributor.alternativeNameKim, Sung Hoon-
dc.contributor.alternativeNameKim, Young Tae-
dc.contributor.alternativeNameKim, Jae Wook-
dc.contributor.alternativeNameKim, Jae Hoon-
dc.contributor.alternativeNameKim, Hyun Ki-
dc.contributor.alternativeNameYoon, Bo Sung-
dc.contributor.affiliatedAuthor김상운-
dc.citation.volume99-
dc.citation.number3-
dc.citation.startPage585-
dc.citation.endPage590-
dc.identifier.bibliographicCitationGYNECOLOGIC ONCOLOGY, Vol.99(3) : 585-590, 2005-
dc.date.modified2017-05-04-
dc.identifier.rimsid43981-
dc.type.rimsART-
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

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