2.50
Hdl Handle:
http://hdl.handle.net/2336/33335
Title:
Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families
Authors:
Barkardottir, RB; Sarantaus, L; Arason, A; Vehmanen, P; Bendahl, PO; Kainu, T; Syrjäkoski, K; Krahe, R; Huusko, P; Pyrhönen, S; Holli, K; Kallioniemi, OP; Egilsson, V; Kere, J; Nevanlinna, H
Citation:
Eur. J. Hum. Genet. 2001, 9(10):773-9
Issue Date:
1-Oct-2001
Abstract:
The 999del5 mutation is the single, strong BRCA2 founder mutation in Iceland and the most common BRCA1/2 founder mutation in Finland. To evaluate the origin and time since spreading of the 999del5 mutation in Iceland and in Finland, we constructed haplotypes with polymorphic markers within and flanking the BRCA2 gene in a set of 18 Icelandic and 10 Finnish 999del5 breast cancer families. All Icelandic families analysed shared a common core haplotype of about 1.7 cM. The common ancestors for the Icelandic families studied were estimated to trace back to 340-1000 years, not excluding the possibility that the mutation was brought to Iceland during the settlement of the country. Analysis of the Finnish families revealed two distinct haplotypes. A rare one, found in three families in the old settlement region in southwestern Finland, shared a four-marker (0.5 cM) core haplotype with the Icelandic 999del5 haplotype. A distinct approximately 6 cM haplotype was shared by seven 999del5 Finnish families estimated to have a common ancestry 140-300 years ago. These families cluster in two geographical regions in Finland, in the very same area as those with the rare haplotype and also in the most eastern, late settlement region of Finland. The results may indicate a common ancient origin for the 999del5 mutation in Iceland and in Finland, but distinct mutational events cannot be ruled out. The surprising finding of the same mutation in two completely different haplotypes in a sparsely populated area in Finland may suggest gene conversion.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1038/sj.ejhg.5200717

Full metadata record

DC FieldValue Language
dc.contributor.authorBarkardottir, RB-
dc.contributor.authorSarantaus, L-
dc.contributor.authorArason, A-
dc.contributor.authorVehmanen, P-
dc.contributor.authorBendahl, PO-
dc.contributor.authorKainu, T-
dc.contributor.authorSyrjäkoski, K-
dc.contributor.authorKrahe, R-
dc.contributor.authorHuusko, P-
dc.contributor.authorPyrhönen, S-
dc.contributor.authorHolli, K-
dc.contributor.authorKallioniemi, OP-
dc.contributor.authorEgilsson, V-
dc.contributor.authorKere, J-
dc.contributor.authorNevanlinna, H-
dc.date.accessioned2008-07-28T09:47:25Z-
dc.date.available2008-07-28T09:47:25Z-
dc.date.issued2001-10-01-
dc.date.submitted2008-07-28-
dc.identifier.citationEur. J. Hum. Genet. 2001, 9(10):773-9en
dc.identifier.issn1018-4813-
dc.identifier.pmid11781689-
dc.identifier.doi10.1038/sj.ejhg.5200717-
dc.identifier.urihttp://hdl.handle.net/2336/33335-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractThe 999del5 mutation is the single, strong BRCA2 founder mutation in Iceland and the most common BRCA1/2 founder mutation in Finland. To evaluate the origin and time since spreading of the 999del5 mutation in Iceland and in Finland, we constructed haplotypes with polymorphic markers within and flanking the BRCA2 gene in a set of 18 Icelandic and 10 Finnish 999del5 breast cancer families. All Icelandic families analysed shared a common core haplotype of about 1.7 cM. The common ancestors for the Icelandic families studied were estimated to trace back to 340-1000 years, not excluding the possibility that the mutation was brought to Iceland during the settlement of the country. Analysis of the Finnish families revealed two distinct haplotypes. A rare one, found in three families in the old settlement region in southwestern Finland, shared a four-marker (0.5 cM) core haplotype with the Icelandic 999del5 haplotype. A distinct approximately 6 cM haplotype was shared by seven 999del5 Finnish families estimated to have a common ancestry 140-300 years ago. These families cluster in two geographical regions in Finland, in the very same area as those with the rare haplotype and also in the most eastern, late settlement region of Finland. The results may indicate a common ancient origin for the 999del5 mutation in Iceland and in Finland, but distinct mutational events cannot be ruled out. The surprising finding of the same mutation in two completely different haplotypes in a sparsely populated area in Finland may suggest gene conversion.en
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.relation.urlhttp://dx.doi.org/10.1038/sj.ejhg.5200717en
dc.subject.meshBreast Neoplasmsen
dc.subject.meshEthnic Groupsen
dc.subject.meshFemaleen
dc.subject.meshFinlanden
dc.subject.meshGenes, BRCA2en
dc.subject.meshGenetic Markersen
dc.subject.meshGeographyen
dc.subject.meshHaplotypesen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshOvarian Neoplasmsen
dc.subject.meshPhylogenyen
dc.subject.meshSequence Deletionen
dc.subject.meshTime Factorsen
dc.titleHaplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer familiesen
dc.typeArticleen
dc.contributor.departmentDepartment of Pathology, University Hospital of Iceland, Iceland. rosa@landspitali.isen
dc.identifier.journalEuropean journal of human genetics : EJHGen

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