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http://hdl.handle.net/10261/158208
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Campo DC | Valor | Lengua/Idioma |
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dc.contributor.author | Seguí, Nuria | es_ES |
dc.contributor.author | Mina, Leonardo B. | es_ES |
dc.contributor.author | Durán, Mercedes | es_ES |
dc.contributor.author | Blanco, Ignacio | es_ES |
dc.contributor.author | Valle, Laura | es_ES |
dc.date.accessioned | 2017-12-15T08:41:29Z | - |
dc.date.available | 2017-12-15T08:41:29Z | - |
dc.date.issued | 2016 | - |
dc.identifier.citation | European Human Genetics Conference (2016) | es_ES |
dc.identifier.uri | http://hdl.handle.net/10261/158208 | - |
dc.description | Resumen del póster presentado a la European Human Genetics Conference, celebrada en Barcelona (España) del 21 al 24 de mayo de 2016.-- et al. | es_ES |
dc.description.abstract | [Introduction]: Inherited factors account for over 20% of all colorectal cancers (CRC), but less than 6% can be explained by rare high-penetrance mutations in known genes. We aimed at identifying novel hereditary cancer genes by performing whole-exome sequencing in individual hereditary CRC families. Materials and Methods: Exome enrichment (Agilent SureSelect Human All Exon 50Mb) followed by massively parallel sequencing (Illumina Hi-Seq2000) was performed on blood DNA from at least 3 cancer-affected family members. Three Amsterdam-positive families were studied. Data analysis was performed using conventional algorithms. Validation studies in familial cancer series and in silico and in vitro functional studies were also carried out. [Results]: One family harbored two mutations in the MUTYH gene -known polyposis (recesive) gene-, one recurrent in the European population and nature. The family showed an atypical phenotype for MUYTH, characterized by the absence of polyps, apparent autosomal dominant inheritance, and presence of a mismatch repair-deficient tumor. The study of the second family allowed us to identify a novel hereditary CRC gene, FAN1. Functionally relevant mutations were identified in almost 3% of Amsterdam-positive families. The third family carried of two mutated genes: a splice-site mutation in a tumor suppressor gene, and a missense mutation in a previously-proposed cancer-predisposing gene. [Conclusions]: The analysis of exomes in individual high-risk families allowed us to identify two novel genes for hereditary CRC, as well as mutations in previously-known or -proposed CRC-predisposing genes. | es_ES |
dc.description.sponsorship | MINECO-FEDER SAF2012-38885, Asociación Española Contra el Cáncer | es_ES |
dc.language.iso | eng | es_ES |
dc.rights | closedAccess | es_ES |
dc.title | Identification of novel causal genes of hereditary colorectal cancer by performing whole-exome sequencing in individual high-risk families | es_ES |
dc.type | póster de congreso | es_ES |
dc.description.peerreviewed | Peer reviewed | es_ES |
dc.contributor.funder | Ministerio de Economía y Competitividad (España) | es_ES |
dc.contributor.funder | European Commission | es_ES |
dc.contributor.funder | Asociación Española Contra el Cáncer | es_ES |
dc.relation.csic | Sí | es_ES |
oprm.item.hasRevision | no ko 0 false | * |
dc.identifier.funder | http://dx.doi.org/10.13039/501100003329 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100000780 | es_ES |
dc.type.coar | http://purl.org/coar/resource_type/c_6670 | es_ES |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.languageiso639-1 | en | - |
item.fulltext | No Fulltext | - |
item.openairetype | póster de congreso | - |
Aparece en las colecciones: | (IBGM) Comunicaciones congresos |
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