Identification of novel causal genes of hereditary colorectal cancer by performing whole-exome sequencing in individual high-risk families

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Campo DC	Valor	Lengua/Idioma
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	-
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