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dc.contributor.authorGutiérrez-Enríquez, Sara
dc.contributor.authorEsteban Cardeñosa, Eva
dc.contributor.authorDíaz Rubio, Eduardo
dc.contributor.authorHoya, Miguel de la
dc.contributor.authorGutiérrez Enríquez, Sara
dc.contributor.authorBonache, Sandra
dc.contributor.authorRuíz de Garibay, Gorka
dc.contributor.authorOsorio, Ana
dc.contributor.authorSantamariña, Marta
dc.contributor.authorRamón y Cajal, Teresa
dc.contributor.authorEsteban Cardeñosa, Eva
dc.contributor.authorTenés, Anna
dc.contributor.authorYanowsky, Kira
dc.contributor.authorBarroso, Alicia
dc.contributor.authorMontalban, Gemma
dc.contributor.authorBlanco, Eva
dc.contributor.authorCornet, Mònica
dc.contributor.authorGadea, Neus
dc.contributor.authorInfante Sanz, María del Mar
dc.contributor.authorCaldés, Trinidad
dc.contributor.authorDíaz Rubio, Eduardo
dc.contributor.authorBalmaña, Judith
dc.contributor.authorLasa, Adriana
dc.contributor.authorVega, Ana 
dc.contributor.authorBenítez, Javier
dc.contributor.authorHoya, Miguel de la
dc.contributor.authorDiez, Orland
dc.date.accessioned2021-07-14T09:14:26Z
dc.date.available2021-07-14T09:14:26Z
dc.date.issued2014
dc.identifier.citationInternational Journal of Cancer, 2014, vol. 134, n. 9, p. 2088es
dc.identifier.issn0020-7136es
dc.identifier.urihttps://uvadoc.uva.es/handle/10324/47405
dc.descriptionProducción Científicaes
dc.description.abstractRAD51D mutations have been recently identified in breast (BC) and ovarian cancer (OC) families. Although an etiological role in OC appears to be present, the association of RAD51D mutations and BC risk is more unclear. We aimed to determine the prevalence of germline RAD51D mutations in Spanish BC/OC families negative for BRCA1/BRCA2 mutations. We analyzed 842 index patients: 491 from BC/OC families, 171 BC families, 51 OC families and 129 patients without family history but with early-onset BC or OC or metachronous BC and OC. Mutation detection was performed with high-resolution melting, denaturing high-performance liquid chromatography or Sanger sequencing. Three mutations were found in four families with BC and OC cases (0.82%). Two were novel: c.1A>T (p.Met1?) and c.667+2_667+23del, leading to the exon 7 skipping and one previously described: c.674C>T (p.Arg232*). All were present in BC/OC families with only one OC. The c.667+2_667+23del cosegregated in the family with one early-onset BC and two bilateral BC cases. We also identified the c.629C>T (p.Ala210Val) variant, which was predicted in silico to be potentially pathogenic. About 1% of the BC and OC Spanish families negative for BRCA1/BRCA2 are carriers of RAD51D mutations. The presence of several BC mutation carriers, albeit in the context of familial OC, suggests an increased risk for BC, which should be taken into account in the follow-up and early detection measures. RAD51D testing should be considered in clinical setting for families with BC and OC, irrespective of the number of OC cases in the family.es
dc.format.mimetypeapplication/pdfes
dc.language.isoenges
dc.publisherWileyes
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subject.classificationRAD51Des
dc.subject.classificationCánceres
dc.subject.classificationPredisposición genéticaes
dc.subject.classificationCáncer-Prevenciónes
dc.titleAbout 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variantses
dc.typeinfo:eu-repo/semantics/articlees
dc.rights.holder© Wileyes
dc.identifier.doi10.1002/ijc.28540es
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/full/10.1002/ijc.28540es
dc.identifier.publicationfirstpage2088es
dc.identifier.publicationissue9es
dc.identifier.publicationlastpage2088es
dc.identifier.publicationtitleInternational Journal of Canceres
dc.identifier.publicationvolume134es
dc.peerreviewedSIes
dc.description.projectPrograma Miguel Servet y el Instituto de Salud Carlos III (grant CP10 / 00617)es
dc.description.projectFondo de Investigación Sanitaria (FIS) Research (Grant PI 12/00539)es
dc.description.projectIntrasalud (Grant PI12/00070)es
dc.description.projectXunta de Galicia (Grant 10PXIB 9101297PR)es
dc.description.projectAcción Cooperativa y Colaborativa Intramural (grant CIBER2012, SAF2010-20493)es
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersiones
dc.subject.unesco24 Ciencias de la Vidaes


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