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

AutorSeguí, Nuria; Mina, Leonardo B.; Durán, Mercedes ; Blanco, Ignacio; Valle, Laura
Fecha de publicación2016
CitaciónEuropean Human Genetics Conference (2016)
Resumen[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.
DescripciónResumen del póster presentado a la European Human Genetics Conference, celebrada en Barcelona (España) del 21 al 24 de mayo de 2016.-- et al.
URIhttp://hdl.handle.net/10261/158208
Aparece en las colecciones: (IBGM) Comunicaciones congresos
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