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MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome) - Description of four novel mutations

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dc.creatorGiraldo A.spa
dc.creatorGómez A.spa
dc.creatorSalguero G.spa
dc.creatorGarcía H.spa
dc.creatorAristizábal F.spa
dc.creatorGutiérrez Ó.spa
dc.creatorÁngel L.A.spa
dc.creatorPadrón J.spa
dc.creatorMartínez C.spa
dc.creatorMartínez H.spa
dc.creatorMalaver O.spa
dc.creatorFlórez L.spa
dc.creatorBarvo R.spa
dc.date.accessioned2020-05-26T00:08:05Z
dc.date.available2020-05-26T00:08:05Z
dc.date.created2005spa
dc.description.abstractThis study searched for mutations in the MLH1 and MSH2 genes in 23 unrelated Colombian families with suspected hereditary nonpolyposis colorectal cancer (HNPCC). The families were grouped according to the fulfillment of the Amsterdam II criteria or the Bethesda guidelines. We screened all probands by single-strand conformational polymorphism (SSCP) and direct DNA sequencing. Eleven families fulfilled the Amsterdam criteria II and 12 families the Bethesda guidelines. Germline mutations were detected in 11 families, which corresponds to a mutation detection rate of 48%. When only families fulfilling the Amsterdam II criteria were analyzed, the mutation detection rate rose to 82%. Only 8% of the mutation detection rate was found in families following the Bethesda guidelines. Three mutations were shared by two different families, which corresponds to a total of eight different mutations, seven of them found in the MLH1 gene and one in the MSH2 gene. We have identified four mutations that have not been previously reported to the International Collaborative Group of HNPCC. Three of these are pathogenic, a single base substitution (C > T) at codon 640, exon 17, a G deletion at codon 619, exon 16 and in the MLH1 gene and a two-nucleotide deletion (TG) at codon 184, exon 3 in the MSH2. Also, an unclassified variant, a substitution (C > G) at the codon 141, exon 5 of the MLH1, was detected. © Springer 2005.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1007/s10689-005-4523-7
dc.identifier.issn13899600
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24054
dc.language.isoengspa
dc.relation.citationEndPage290
dc.relation.citationIssueNo. 4
dc.relation.citationStartPage285
dc.relation.citationTitleFamilial Cancer
dc.relation.citationVolumeVol. 4
dc.relation.ispartofFamilial Cancer, ISSN:13899600, Vol.4, No.4 (2005); pp. 285-290spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-29144455047&doi=10.1007%2fs10689-005-4523-7&partnerID=40&md5=4a3feeaa1f8c6686742ec14d203ab3fbspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordProtein MLH1spa
dc.subject.keywordSingle-Stranded Conformationaleng
dc.subject.keywordAmino acid substitutionspa
dc.subject.keywordArticlespa
dc.subject.keywordCancer screeningspa
dc.subject.keywordCodonspa
dc.subject.keywordColombiaspa
dc.subject.keywordColorectal cancerspa
dc.subject.keywordControlled studyspa
dc.subject.keywordDNA sequencespa
dc.subject.keywordExonspa
dc.subject.keywordFamilial cancerspa
dc.subject.keywordGene deletionspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGenetic screeningspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordHumanspa
dc.subject.keywordPriority journalspa
dc.subject.keywordSingle strand conformation polymorphismspa
dc.subject.keywordBase Sequencespa
dc.subject.keywordCarrier Proteinsspa
dc.subject.keywordColombiaspa
dc.subject.keywordColorectal Neoplasmseng
dc.subject.keywordDNA Mutational Analysisspa
dc.subject.keywordDNAeng
dc.subject.keywordFemalespa
dc.subject.keywordGenetic Predisposition to Diseasespa
dc.subject.keywordGerm-Line Mutationspa
dc.subject.keywordHumansspa
dc.subject.keywordMalespa
dc.subject.keywordNeoplasm Proteinsspa
dc.subject.keywordNuclear Proteinsspa
dc.subject.keywordPolymerase Chain Reactionspa
dc.subject.keywordPolymorphismeng
dc.subject.keywordColombian familiesspa
dc.subject.keywordFamilial cancerspa
dc.subject.keywordHNPCCspa
dc.subject.keywordLynch syndromespa
dc.subject.keywordMLH1spa
dc.subject.keywordMSH2spa
dc.titleMLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome) - Description of four novel mutationsspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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