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Article: Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese population.

TitleRecurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese population.
Authors
Issue Date2002
Citation
Human Mutation, 2002, v. 19 n. 3, p. 307-308 How to Cite?
AbstractPrevious mutational analysis for BRCA gene mutations in sporadic ovarian cancer occurring in Chinese patients in Hong Kong identified six germline BRCA1 mutations and one germline BRCA2 mutation, six of which were novel (Khoo et al., 2000). Knowledge of BRCA gene mutations in the Chinese population is relatively scant. In this study, we focussed on whether any of these mutations could be recurrent in our Chinese population, making use of archival paraffin embedded tissue. A consecutive series of 214 ovarian cancer cases, half of Southern Chinese origin from Hong Kong whilst the other half of Northern Chinese origin from Beijing were used for the study. We identified one further novel mutation, 1081delG, in BRCA1. This was found to occur in two unrelated individuals with shared haplotype as revealed by allelotype analysis, thus demonstrating founder effect. Two other recurrent mutations were also identified, the 2371-2372delTG mutation in BRCA1 and the 3337C>T mutation in BRCA2 recurring in two and three unrelated individuals respectively, giving an overall prevalence 4.7% of recurrent BRCA mutations in ovarian cancer in the Southern Chinese population. Most importantly, all our recurrent mutation carriers were identified from Southern Chinese patients from Hong Kong whilst such mutations were absent in samples from the Northern Chinese. Our findings indicate possible heterogeneity in the BRCA genotype between Northern and Southern Chinese. The identification of a founder mutation and two recurrent mutations moreover, has important implications towards screening strategies for breast and ovarian cancer among Chinese of southern ancestral origin who are now dispersed throughout the world. Copyright 2002 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/148288
ISSN
2015 SCImago Journal Rankings: 3.670

 

DC FieldValueLanguage
dc.contributor.authorKhoo, USen_HK
dc.contributor.authorChan, KYen_HK
dc.contributor.authorCheung, ANen_HK
dc.contributor.authorXue, WCen_HK
dc.contributor.authorShen, DHen_HK
dc.contributor.authorFung, KYen_HK
dc.contributor.authorNgan, HYen_HK
dc.contributor.authorChoy, KWen_HK
dc.contributor.authorPang, CPen_HK
dc.contributor.authorPoon, CSen_HK
dc.contributor.authorPoon, AYen_HK
dc.contributor.authorOzcelik, Hen_HK
dc.date.accessioned2012-05-29T06:12:01Z-
dc.date.available2012-05-29T06:12:01Z-
dc.date.issued2002en_HK
dc.identifier.citationHuman Mutation, 2002, v. 19 n. 3, p. 307-308en_HK
dc.identifier.issn1098-1004en_HK
dc.identifier.urihttp://hdl.handle.net/10722/148288-
dc.description.abstractPrevious mutational analysis for BRCA gene mutations in sporadic ovarian cancer occurring in Chinese patients in Hong Kong identified six germline BRCA1 mutations and one germline BRCA2 mutation, six of which were novel (Khoo et al., 2000). Knowledge of BRCA gene mutations in the Chinese population is relatively scant. In this study, we focussed on whether any of these mutations could be recurrent in our Chinese population, making use of archival paraffin embedded tissue. A consecutive series of 214 ovarian cancer cases, half of Southern Chinese origin from Hong Kong whilst the other half of Northern Chinese origin from Beijing were used for the study. We identified one further novel mutation, 1081delG, in BRCA1. This was found to occur in two unrelated individuals with shared haplotype as revealed by allelotype analysis, thus demonstrating founder effect. Two other recurrent mutations were also identified, the 2371-2372delTG mutation in BRCA1 and the 3337C>T mutation in BRCA2 recurring in two and three unrelated individuals respectively, giving an overall prevalence 4.7% of recurrent BRCA mutations in ovarian cancer in the Southern Chinese population. Most importantly, all our recurrent mutation carriers were identified from Southern Chinese patients from Hong Kong whilst such mutations were absent in samples from the Northern Chinese. Our findings indicate possible heterogeneity in the BRCA genotype between Northern and Southern Chinese. The identification of a founder mutation and two recurrent mutations moreover, has important implications towards screening strategies for breast and ovarian cancer among Chinese of southern ancestral origin who are now dispersed throughout the world. Copyright 2002 Wiley-Liss, Inc.en_HK
dc.languageengen_US
dc.relation.ispartofHuman mutationen_HK
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshCarcinoma - Genetics - Pathologyen_US
dc.subject.meshChina - Ethnologyen_US
dc.subject.meshFemaleen_US
dc.subject.meshFounder Effecten_US
dc.subject.meshGenes, Brca1en_US
dc.subject.meshGenes, Brca2en_US
dc.subject.meshGenetics, Populationen_US
dc.subject.meshGerm-Line Mutation - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshOvarian Neoplasms - Genetics - Pathologyen_US
dc.subject.meshSpain - Epidemiologyen_US
dc.titleRecurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese population.en_HK
dc.typeArticleen_HK
dc.identifier.emailKhoo, US: uskhoo@hku.hken_HK
dc.identifier.emailChan, KY: kelvinc@pathology.hku.hken_HK
dc.identifier.emailCheung, AN: anycheun@hkucc.hku.hken_HK
dc.identifier.emailNgan, HY: hysngan@hkucc.hku.hken_HK
dc.identifier.authorityKhoo, US=rp00362en_HK
dc.identifier.authorityChan, KY=rp00453en_HK
dc.identifier.authorityCheung, AN=rp00542en_HK
dc.identifier.authorityNgan, HY=rp00346en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid11857749-
dc.identifier.scopuseid_2-s2.0-0036512383en_HK
dc.identifier.hkuros66012en_US
dc.identifier.hkuros108050-
dc.identifier.volume19en_HK
dc.identifier.issue3en_HK
dc.identifier.spage307en_HK
dc.identifier.epage308en_HK
dc.identifier.scopusauthoridKhoo, US=7004195799en_HK
dc.identifier.scopusauthoridChan, KY=7406034195en_HK
dc.identifier.scopusauthoridCheung, AN=54927484100en_HK
dc.identifier.scopusauthoridXue, WC=7103165268en_HK
dc.identifier.scopusauthoridShen, DH=7401738584en_HK
dc.identifier.scopusauthoridFung, KY=7202935069en_HK
dc.identifier.scopusauthoridNgan, HY=34571944100en_HK
dc.identifier.scopusauthoridChoy, KW=7005477052en_HK
dc.identifier.scopusauthoridPang, CP=7201425127en_HK
dc.identifier.scopusauthoridPoon, CS=7202672697en_HK
dc.identifier.scopusauthoridPoon, AY=55223728900en_HK
dc.identifier.scopusauthoridOzcelik, H=7003751595en_HK

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