International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

9 páginas, 4 figuras, 1 tabla.-- El pdf del artículo es la versión pre-print.-- et al.

Detalles Bibliográficos
Autores: Velasco, Eladio, Durán, Mercedes
Tipo de recurso: artículo
Fecha de publicación:2011
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/49344
Acceso en línea:http://hdl.handle.net/10261/49344
Access Level:acceso abierto
Palabra clave:c.156_157insAlu BRCA2 mutation
Founder mutation
Age estimation
Hereditary breast/ovarian cancer
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spelling International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutationVelasco, EladioDurán, Mercedesc.156_157insAlu BRCA2 mutationFounder mutationAge estimationHereditary breast/ovarian cancer9 páginas, 4 figuras, 1 tabla.-- El pdf del artículo es la versión pre-print.-- et al.The c.156_157insAlu BRCA2 mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutation is not detectable using the commonly used screening methodologies and must be specifically sought, we screened for this rearrangement in a total of 5,443 suspected HBOC families from several countries. Whereas the c.156_157insAlu BRCA2 mutation was detected in 11 of 149 suspected HBOC families from Portugal, representing 37.9% of all deleterious mutations, in other countries it was detected only in one proband living in France and in four individuals requesting predictive testing living in France and in the USA, all being Portuguese immigrants. After performing an extensive haplotype study in carrier families, we estimate that this founder mutation occurred 558 ± 215 years ago. We further demonstrate significant quantitative differences regarding the production of the BRCA2 full length RNA and the transcript lacking exon 3 in c.156_157insAlu BRCA2 mutation carriers and in controls. The cumulative incidence of breast cancer in carriers did not differ from that of other BRCA2 and BRCA1 pathogenic mutations. We recommend that all suspected HBOC families from Portugal or with Portuguese ancestry are specifically tested for this rearrangement.This study was supported by Ministério da Saúde (Project N8 15/2007) and Liga Portuguesa Contra o Cancro. IPATIMUP was funded by Fundaçáo para a Ciência e Tecnologia, through POCI (Programa Operacional Ciència e Inovaçáo 2010). MT and WDF are supported by the Susan G. Komen Foundation for the Cure, the Jewish General Hospital Weekend to End Breast Cancer and the Fonds de la Recherche en Santé du Québec. EAV and MD are supported by grants PI061102 (Ministerio de Ciencia e Innovación) and 200820I135 (CSIC).Peer reviewedSpringer Nature201220122011info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501http://hdl.handle.net/10261/49344reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttp://dx.doi.org/10.1007/s10549-010-1036-3info:eu-repo/semantics/openAccessoai:digital.csic.es:10261/493442026-05-22T06:33:51Z
dc.title.none.fl_str_mv International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
title International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
spellingShingle International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
Velasco, Eladio
c.156_157insAlu BRCA2 mutation
Founder mutation
Age estimation
Hereditary breast/ovarian cancer
title_short International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
title_full International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
title_fullStr International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
title_full_unstemmed International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
title_sort International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
dc.creator.none.fl_str_mv Velasco, Eladio
Durán, Mercedes
author Velasco, Eladio
author_facet Velasco, Eladio
Durán, Mercedes
author_role author
author2 Durán, Mercedes
author2_role author
dc.subject.none.fl_str_mv c.156_157insAlu BRCA2 mutation
Founder mutation
Age estimation
Hereditary breast/ovarian cancer
topic c.156_157insAlu BRCA2 mutation
Founder mutation
Age estimation
Hereditary breast/ovarian cancer
description 9 páginas, 4 figuras, 1 tabla.-- El pdf del artículo es la versión pre-print.-- et al.
publishDate 2011
dc.date.none.fl_str_mv 2011
2012
2012
dc.type.none.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/49344
url http://hdl.handle.net/10261/49344
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv http://dx.doi.org/10.1007/s10549-010-1036-3
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Springer Nature
publisher.none.fl_str_mv Springer Nature
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
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collection DIGITAL.CSIC. Repositorio Institucional del CSIC
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