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Article: Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations.

TitleMutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations.
Authors
Issue Date2000
Citation
Human Mutation, 2000, v. 16 n. 1, p. 88-89 How to Cite?
AbstractGermline mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. An incidence of 5% and 3.3% respectively has been reported of BRCA1 and BRCA2 mutations in women with ovarian cancer unselected for family history. The contribution of BRCA1 and BRCA2 mutations to ovarian cancer in Chinese women is unknown. A total of 60 samples of ovarian cancer diagnosed in Chinese unselected for age or family history were analyzed for BRCA mutations using the protein truncation test. The entire coding exon of BRCA1 of 53 cases and that of exon 11 of BRCA2 of 43 cases were successfully screened. Six germline (11.3%) mutations (633C>T, 1080delT, 1129delA, 2371-2372delTG, 3976-3979delGTGA, and IVS 22+7 A>G) were detected in BRCA1. One germline mutation (3337C>T) (2.1%) was detected in BRCA2. None of these seven cases were associated with strong family history of breast and/or ovarian cancer. Five out of our six BRCA1 mutations and the one BRCA2 mutation identified are novel. Our 11.3% incidence of BRCA1 mutations in ovarian cancer found amongst Chinese with insignificant family history is apparently higher than that previously reported in other populations. It suggests that BRCA1 mutation may play a significant role in the development of sporadic ovarian cancer in Chinese women. Copyright Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/148206
ISSN
2015 SCImago Journal Rankings: 3.670

 

DC FieldValueLanguage
dc.contributor.authorKhoo, USen_HK
dc.contributor.authorNgan, HYen_HK
dc.contributor.authorCheung, ANen_HK
dc.contributor.authorChan, KYen_HK
dc.contributor.authorLu, Jen_HK
dc.contributor.authorChan, VWen_HK
dc.contributor.authorLau, Sen_HK
dc.contributor.authorAndrulis, ILen_HK
dc.contributor.authorOzcelik, Hen_HK
dc.date.accessioned2012-05-29T06:11:30Z-
dc.date.available2012-05-29T06:11:30Z-
dc.date.issued2000en_HK
dc.identifier.citationHuman Mutation, 2000, v. 16 n. 1, p. 88-89en_HK
dc.identifier.issn1098-1004en_HK
dc.identifier.urihttp://hdl.handle.net/10722/148206-
dc.description.abstractGermline mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. An incidence of 5% and 3.3% respectively has been reported of BRCA1 and BRCA2 mutations in women with ovarian cancer unselected for family history. The contribution of BRCA1 and BRCA2 mutations to ovarian cancer in Chinese women is unknown. A total of 60 samples of ovarian cancer diagnosed in Chinese unselected for age or family history were analyzed for BRCA mutations using the protein truncation test. The entire coding exon of BRCA1 of 53 cases and that of exon 11 of BRCA2 of 43 cases were successfully screened. Six germline (11.3%) mutations (633C>T, 1080delT, 1129delA, 2371-2372delTG, 3976-3979delGTGA, and IVS 22+7 A>G) were detected in BRCA1. One germline mutation (3337C>T) (2.1%) was detected in BRCA2. None of these seven cases were associated with strong family history of breast and/or ovarian cancer. Five out of our six BRCA1 mutations and the one BRCA2 mutation identified are novel. Our 11.3% incidence of BRCA1 mutations in ovarian cancer found amongst Chinese with insignificant family history is apparently higher than that previously reported in other populations. It suggests that BRCA1 mutation may play a significant role in the development of sporadic ovarian cancer in Chinese women. Copyright Wiley-Liss, Inc.en_HK
dc.languageengen_US
dc.relation.ispartofHuman mutationen_HK
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshAged, 80 And Overen_US
dc.subject.meshBrca1 Protein - Geneticsen_US
dc.subject.meshBrca2 Proteinen_US
dc.subject.meshChinaen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshGerm-Line Mutation - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshNeoplasm Proteins - Geneticsen_US
dc.subject.meshOvarian Neoplasms - Geneticsen_US
dc.subject.meshTranscription Factors - Geneticsen_US
dc.titleMutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations.en_HK
dc.typeArticleen_HK
dc.identifier.emailKhoo, US: uskhoo@hku.hken_HK
dc.identifier.emailNgan, HY: hysngan@hkucc.hku.hken_HK
dc.identifier.emailCheung, AN: anycheun@hkucc.hku.hken_HK
dc.identifier.emailChan, KY: kelvinc@pathology.hku.hken_HK
dc.identifier.authorityKhoo, US=rp00362en_HK
dc.identifier.authorityNgan, HY=rp00346en_HK
dc.identifier.authorityCheung, AN=rp00542en_HK
dc.identifier.authorityChan, KY=rp00453en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid10874312-
dc.identifier.scopuseid_2-s2.0-0034221277en_HK
dc.identifier.hkuros53377en_US
dc.identifier.volume16en_HK
dc.identifier.issue1en_HK
dc.identifier.spage88en_HK
dc.identifier.epage89en_HK
dc.identifier.scopusauthoridKhoo, US=7004195799en_HK
dc.identifier.scopusauthoridNgan, HY=34571944100en_HK
dc.identifier.scopusauthoridCheung, AN=54927484100en_HK
dc.identifier.scopusauthoridChan, KY=7406034195en_HK
dc.identifier.scopusauthoridLu, J=16407091300en_HK
dc.identifier.scopusauthoridChan, VW=36896382500en_HK
dc.identifier.scopusauthoridLau, S=25932968400en_HK
dc.identifier.scopusauthoridAndrulis, IL=7005655442en_HK
dc.identifier.scopusauthoridOzcelik, H=7003751595en_HK

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