Mostrar el registro sencillo del ítem

dc.contributor.authorMur, Pilar
dc.contributor.authorSánchez-Cuartielles, Elena
dc.contributor.authorAussó, Susanna
dc.contributor.authorAiza, Gemma
dc.contributor.authorValdés-Mas, Rafael
dc.contributor.authorPineda, Marta
dc.contributor.authorNavarro, Matilde
dc.contributor.authorBrunet, Joan
dc.contributor.authorUrioste, Miguel 
dc.contributor.authorLázaro, Conxi
dc.contributor.authorMoreno, Victor
dc.contributor.authorCapellá, Gabriel
dc.contributor.authorPuente, Xose S
dc.contributor.authorValle, Laura
dc.date.accessioned2019-12-23T10:32:32Z
dc.date.available2019-12-23T10:32:32Z
dc.date.issued2016-02-08
dc.identifier.citationSci Rep. 2016;6:20697.es_ES
dc.identifier.issn2045-2322es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/8869
dc.descriptionPI13-00285 PI11-01439es_ES
dc.description.abstractGermline mutations in UNC5C have been suggested to increase colorectal cancer (CRC) risk, thus causing hereditary CRC. However, the evidence gathered thus far is insufficient to include the study of the UNC5C gene in the routine genetic testing of familial CRC. Here we aim at providing a more conclusive answer about the contribution of germline UNC5C mutations to genetically unexplained hereditary CRC and/or polyposis cases. To achieve this goal we sequenced the coding region and exon-intron boundaries of UNC5C in 544 familial CRC or polyposis patients (529 families), using a technique that combines pooled DNA amplification and massively parallel sequencing. A total of eight novel or rare variants, all missense, were identified in eight families. Co-segregation data in the families and association results in case-control series are not consistent with a causal effect for 7 of the 8 identified variants, including c.1882_1883delinsAA (p.A628K), previously described as a disease-causing mutation. One variant, c.2210G > A (p.S737N), remained unclassified. In conclusion, our results suggest that the contribution of germline mutations in UNC5C to hereditary colorectal cancer and to polyposis cases is negligible.es_ES
dc.description.sponsorshipThis work was funded by the Spanish Ministry of Economy and Competitiveness and co-funded by FEDER funds -a way to build Europe- [SAF2012-38885 (LV), SAF2013-45836-R (XSP), SAF2012-33636 (GC)]; Carlos III Health Institute [PI13-00285 (CL), PI11-01439 (VM)]; Red Tematica de Investigacion Cooperativa en Cancer [RTICC RD12/0036/0031, RD12/0036/0008, RD12/0036/0067], the Government of Catalonia [2014SGR338, 2014SGR647], and the Scientific Foundation Asociacion Espanola Contra el Cancer. We thank Tirso Pons from the Spanish National Cancer Research Center (CNIO) for his assistance. We are grateful to the researchers of the MCC-Spain study for providing the data to assess the identified UNC5C rare variants in the general population.es_ES
dc.language.isoenges_ES
dc.type.hasVersionVoRes_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subject.meshAdenomatous Polyposis Coli es_ES
dc.subject.meshAdult es_ES
dc.subject.meshAged es_ES
dc.subject.meshCase-Control Studies es_ES
dc.subject.meshCells, Cultured es_ES
dc.subject.meshColorectal Neoplasms es_ES
dc.subject.meshDNA es_ES
dc.subject.meshDNA Methylation es_ES
dc.subject.meshExons es_ES
dc.subject.meshFemale es_ES
dc.subject.meshGerm-Line Mutation es_ES
dc.subject.meshHumans es_ES
dc.subject.meshLoss of Heterozygosity es_ES
dc.subject.meshLymphocytes es_ES
dc.subject.meshMale es_ES
dc.subject.meshMicrosatellite Repeats es_ES
dc.subject.meshMiddle Aged es_ES
dc.subject.meshMutation, Missense es_ES
dc.subject.meshNetrin Receptors es_ES
dc.subject.meshPedigree es_ES
dc.subject.meshPolymerase Chain Reaction es_ES
dc.subject.meshPromoter Regions, Genetices_ES
dc.subject.meshRNA Splicing es_ES
dc.subject.meshReceptors, Cell Surface es_ES
dc.subject.meshSequence Analysis, DNA es_ES
dc.titleScarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposises_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.identifier.pubmedID26852919es_ES
dc.format.volume6es_ES
dc.format.number1es_ES
dc.format.page20697es_ES
dc.identifier.doi10.1038/srep20697es_ES
dc.contributor.funderMinisterio de Economía y Competitividad (España) 
dc.contributor.funderInstituto de Salud Carlos III 
dc.contributor.funderAsociación Española Contra el Cáncer 
dc.contributor.funderGovernment of Catalonia (España) 
dc.description.peerreviewedes_ES
dc.identifier.e-issn2045-2322es_ES
dc.relation.publisherversionhttps://doi.org/ 10.1038/srep20697.es_ES
dc.identifier.journalScientific reportses_ES
dc.repisalud.institucionCNIOes_ES
dc.repisalud.orgCNIOCNIO::Grupos de investigación::Grupo de Genética Humanaes_ES
dc.relation.projectIDinfo:eu_repo/grantAgreement/ES/SAF2012-38885es_ES
dc.relation.projectIDinfo:eu_repo/grantAgreement/ES/SAF2013-45836-Res_ES
dc.relation.projectIDinfo:eu_repo/grantAgreement/ES/SAFSAF2012-33636es_ES
dc.relation.projectIDinfo:eu_repo/grantAgreement/ES/PI13-00285es_ES
dc.relation.projectIDinfo:eu_repo/grantAgreement/ES/PI11-01439es_ES
dc.rights.accessRightsopen accesses_ES


Ficheros en el ítem

Acceso Abierto
Thumbnail
Acceso Abierto
Thumbnail

Este ítem aparece en la(s) siguiente(s) colección(ones)

Mostrar el registro sencillo del ítem

Atribución-NoComercial-CompartirIgual 4.0 Internacional
Este Item está sujeto a una licencia Creative Commons: Atribución-NoComercial-CompartirIgual 4.0 Internacional