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dc.contributor.authorRudkin, Teresa M
dc.contributor.authorHamel, Nancy
dc.contributor.authorGalvez, Maria
dc.contributor.authorHogervorst, Frans
dc.contributor.authorGille, Johan J
dc.contributor.authorMøller, Pål
dc.contributor.authorApold, Jaran
dc.contributor.authorFoulkes, William D
dc.date.accessioned2015-10-09T01:27:57Z
dc.date.available2015-10-09T01:27:57Z
dc.date.issued2006
dc.identifier.citationBMC Medical Genetics. 2006 Mar 01;7(1):15
dc.identifier.urihttp://hdl.handle.net/10852/46486
dc.description.abstractBackground Analysis of the chromosomal background upon which a mutation occurs can be used to reconstruct the origins of specific disease-causing mutations. The relatively common BRCA1 mutation, 1135insA, has been previously identified as a Norwegian founder mutation. We performed haplotype analysis of individuals from breast and ovarian cancer families from four different ethnic backgrounds who had been identified as carriers of the BRCA1: 1135insA mutation. Methods Four microsatellite markers (D17S855, D17S1322, D17S1323 and D17S1325) located within or near the BRCA1 gene were genotyped in mutation carriers from 6 families of French Canadian, Italian and Dutch descent. Haplotypes were inferred from the genotype data and compared between these families and with the previously reported Norwegian founder haplotype. Results The 1135insA mutation was found to occur on three distinct haplotype backgrounds. The families from Norway shared a distinct haplotype while the families of French Canadian, Italian, and Dutch descent were found to occur on one of two additional, distinct backgrounds. Conclusion Our results indicate that while the Norwegian haplotype including 1135insA represents an ancient Norwegian mutation, the same mutation has occurred independently in the other populations examined. In centres where targeted mutation testing is performed, exclusively or prior to gene sequencing, our findings suggest that this recurring mutation should be included in targeted mutation panels, irrespective of the ethnic origin of the persons tested.
dc.language.isoeng
dc.rightsRudkin et al.
dc.rightsAttribution 2.0 Generic
dc.rights.urihttp://creativecommons.org/licenses/by/2.0/
dc.titleThe frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations
dc.typeJournal article
dc.date.updated2015-10-09T01:27:57Z
dc.creator.authorRudkin, Teresa M
dc.creator.authorHamel, Nancy
dc.creator.authorGalvez, Maria
dc.creator.authorHogervorst, Frans
dc.creator.authorGille, Johan J
dc.creator.authorMøller, Pål
dc.creator.authorApold, Jaran
dc.creator.authorFoulkes, William D
dc.identifier.doihttp://dx.doi.org/10.1186/1471-2350-7-15
dc.identifier.urnURN:NBN:no-50662
dc.type.documentTidsskriftartikkel
dc.type.peerreviewedPeer reviewed
dc.identifier.fulltextFulltext https://www.duo.uio.no/bitstream/handle/10852/46486/1/12881_2005_Article_123.pdf
dc.type.versionPublishedVersion
cristin.articleid15


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