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dc.contributor.authorOsorio, Ana
dc.contributor.authorInfante Sanz, María del Mar
dc.date.accessioned2021-07-09T08:02:01Z
dc.date.available2021-07-09T08:02:01Z
dc.date.issued2014
dc.identifier.citationOsorio, Ana [et al]. DNA glycosylases Involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers. PLoS Genetics, 2014, vol. 10, n. 4, p. e1004256es
dc.identifier.issn1553-7390es
dc.identifier.urihttps://uvadoc.uva.es/handle/10324/47304
dc.descriptionProducción Científicaes
dc.description.abstractSingle Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03–1.16), p = 2.7×10−3) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03–1.21, p = 4.8×10−3). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.es
dc.format.mimetypeapplication/pdfes
dc.language.isoenges
dc.publisherPublic Library of Sciencees
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subject.classificationGlicosilasases
dc.subject.classificationADNes
dc.titleDNA glycosylases Involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carrierses
dc.typeinfo:eu-repo/semantics/articlees
dc.rights.holder© Public Library of Sciencees
dc.identifier.doi10.1371/journal.pgen.1004256es
dc.relation.publisherversionhttps://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1004256es
dc.identifier.publicationfirstpagee1004256es
dc.identifier.publicationissue4es
dc.identifier.publicationtitlePLoS Geneticses
dc.identifier.publicationvolume10es
dc.peerreviewedSIes
dc.identifier.essn1553-7404es
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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