The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations

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dc.citation.epage212en_US
dc.citation.issueNumber1en_US
dc.citation.spage207en_US
dc.citation.volumeNumber67en_US
dc.contributor.authorMazoyer, S.en_US
dc.contributor.authorLeary, J.en_US
dc.contributor.authorKirk, J.en_US
dc.contributor.authorFleischmann, E.en_US
dc.contributor.authorWagner, T.en_US
dc.contributor.authorClaes, K.en_US
dc.contributor.authorMessiaen, L.en_US
dc.contributor.authorFoulkes, W.en_US
dc.contributor.authorDesrochers, M.en_US
dc.contributor.authorSimard, J.en_US
dc.contributor.authorPhelan, C. M.en_US
dc.contributor.authorKwan, E.en_US
dc.contributor.authorNarod, S. A.en_US
dc.contributor.authorVahteristo, P.en_US
dc.contributor.authorNevanlinna, H.en_US
dc.contributor.authorDurando, X.en_US
dc.contributor.authorBignon, Y. J.en_US
dc.contributor.authorPeyrat, J. P.en_US
dc.contributor.authorBonnardel, C.en_US
dc.contributor.authorSinilnikova, O. M.en_US
dc.contributor.authorPuget, N.en_US
dc.contributor.authorLenoir, G. M.en_US
dc.contributor.authorAudoynaud, C.en_US
dc.contributor.authorGoldgar, D.en_US
dc.contributor.authorMaugard, C.en_US
dc.contributor.authorCaux, V.en_US
dc.contributor.authorGad, S.en_US
dc.contributor.authorStoppa-Lyonnet, D.en_US
dc.contributor.authorNoguès, C.en_US
dc.contributor.authorLidereau, R.en_US
dc.contributor.authorMachavoine, C.en_US
dc.contributor.authorBressac-De Paillerets, B.en_US
dc.contributor.authorKuschel, B.en_US
dc.contributor.authorBetz, B.en_US
dc.contributor.authorNiederacher, D.en_US
dc.contributor.authorBeckmann, M. W.en_US
dc.contributor.authorHamann, U.en_US
dc.contributor.authorPonder, B. A. P.en_US
dc.contributor.authorRobinson, M.en_US
dc.contributor.authorTaylor G. R.en_US
dc.contributor.authorBishop, T.en_US
dc.contributor.authorCatteau, A.en_US
dc.contributor.authorSolomon, E.en_US
dc.contributor.authorCohen, B.en_US
dc.contributor.authorSteel, M.en_US
dc.contributor.authorCollins, N.en_US
dc.contributor.authorStratton, M.en_US
dc.contributor.authorVan Der Looij, M.en_US
dc.contributor.authorOláh, E.en_US
dc.contributor.authorMiller, N. J.en_US
dc.contributor.authorBarton, D. E.en_US
dc.contributor.authorSverdlov, R. S.en_US
dc.contributor.authorFriedman, E.en_US
dc.contributor.authorRadice P.en_US
dc.contributor.authorMontagna, M.en_US
dc.contributor.authorSensi, E.en_US
dc.contributor.authorCaligo, M.en_US
dc.contributor.authorVan Eijk, R.en_US
dc.contributor.authorDevilee, P.en_US
dc.contributor.authorVan Der Luijt, R.en_US
dc.contributor.authorHeimdal, K.en_US
dc.contributor.authorMøller, P.en_US
dc.contributor.authorBorg, Å.en_US
dc.contributor.authorDiez, O.en_US
dc.contributor.authorCortes, J.en_US
dc.contributor.authorDomenech, M.en_US
dc.contributor.authorBaiget, M.en_US
dc.contributor.authorOsorio, A.en_US
dc.contributor.authorBenítez, J.en_US
dc.contributor.authorMaillet, P.en_US
dc.contributor.authorSappino, A. P.en_US
dc.contributor.authorÖzdag, H.en_US
dc.contributor.authorÖzçelik, T.en_US
dc.contributor.authorOzturk, M.en_US
dc.contributor.authorRohlfs, E. M.en_US
dc.contributor.authorBoyd, J.en_US
dc.contributor.authorMcDermott, D.en_US
dc.contributor.authorOffit, K.en_US
dc.contributor.authorUnger, M.en_US
dc.contributor.authorNathanson, K.en_US
dc.contributor.authorWeber, B. L.en_US
dc.contributor.authorSellers, T. A.en_US
dc.contributor.authorHampton, E.en_US
dc.contributor.authorCouch, F. J.en_US
dc.contributor.authorNeuhausen, S.en_US
dc.contributor.authorGayther, S. A.en_US
dc.date.accessioned2016-02-08T10:37:38Z
dc.date.available2016-02-08T10:37:38Z
dc.date.issued2000en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.description.abstractRecently, a 6-kb duplication of exon 13, which creates a frameshift in the coding sequence of the BRCA1 gene, has been described in three unrelated U.S. families of European ancestry and in one Portuguese family. Here, our goal was to estimate the frequency and geographic diversity of carriers of this duplication. To do this, a collaborative screening study was set up that involved 39 institutions from 19 countries and included 3,580 unrelated individuals with a family history of the disease and 934 early-onset breast and/or ovarian cancer cases. A total of 11 additional families carrying this mutation were identified in Australia (1), Belgium (1), Canada (1), Great Britain (6), and the United States (2). Haplotyping showed that they are likely to derive from a common ancestor, possibly of northern British origin. Our results demonstrate that it is strongly advisable, for laboratories carrying out screening either in English-speaking countries or in countries with historical links with Britain, to include within their BRCA1 screening protocols the polymerase chain reaction-based assay described in this report.en_US
dc.description.provenanceMade available in DSpace on 2016-02-08T10:37:38Z (GMT). No. of bitstreams: 1 bilkent-research-paper.pdf: 70227 bytes, checksum: 26e812c6f5156f83f0e77b261a471b5a (MD5) Previous issue date: 2000en
dc.identifier.doi10.1086/302974en_US
dc.identifier.issn0002-9297
dc.identifier.urihttp://hdl.handle.net/11693/25011
dc.language.isoEnglishen_US
dc.publisherCell Pressen_US
dc.relation.isversionofhttp://dx.doi.org/10.1086/302974en_US
dc.source.titleAmerican Journal of Human Geneticsen_US
dc.subjectAustraliaen_US
dc.subjectBelgiumen_US
dc.subjectBreast canceren_US
dc.subjectCanadaen_US
dc.subjectExonen_US
dc.subjectFrameshift mutationen_US
dc.subjectGene duplicationen_US
dc.subjectGene mutationen_US
dc.subjectGene rearrangementen_US
dc.subjectGenetic screeningen_US
dc.subjectGeographyen_US
dc.subjectHaplotypeen_US
dc.subjectOvary canceren_US
dc.subjectPolymerase chain reactionen_US
dc.subjectPriority journalen_US
dc.subjectUnited Statesen_US
dc.subjectAge of onseten_US
dc.subjectBreast neoplasmsen_US
dc.subjectBreast neoplasms, maleen_US
dc.subjectDNA mutational analysisen_US
dc.subjectEnglanden_US
dc.subjectExonsen_US
dc.subjectFemaleen_US
dc.subjectFounder effecten_US
dc.subjectFrameshift mutationen_US
dc.subjectGene duplicationen_US
dc.subjectGene frequencyen_US
dc.subjectGenes, BRCA1en_US
dc.subjectGenetic screeningen_US
dc.subjectHaplotypesen_US
dc.subjectHeterozygoteen_US
dc.subjectHumansen_US
dc.subjectMaleen_US
dc.subjectMiddle ageden_US
dc.subjectMulticenter studiesen_US
dc.subjectMutationen_US
dc.subjectOvarian neoplasmsen_US
dc.titleThe exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populationsen_US
dc.typeArticleen_US

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