Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

PURPOSE: Colorectal cancer is an important cause of mortality in the developed world. Hereditary forms are due to germ-line mutations in APC, MUTYH, and the mismatch repair genes, but many cases present familial aggregation but an unknown inherited cause. The hypothesis of rare high-penetrance mutat...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Esteban-Jurado, Clara, Vila-Casadesús, Maria, Garre, Pilar, Lozano, Juan José, Pristoupilova, Anna, Beltran, Sergi, Muñoz, Jenifer, Ocaña, Teresa, Balaguer, Francesc, López-Cerón, Maria, Cuatrecasas, Miriam, Franch-Expósito, Sebastià, Piqué, Josep M., Castells, Antoni, Carracedo, Angel, Ruiz-Ponte, Clara, Abulí, Anna, Bessa, Xavier, Andreu, Montserrat, Bujanda, Luis, Caldés, Trinidad, Castellví-Bel, Sergi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Original Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4318970/
https://ncbi.nlm.nih.gov/pubmed/25058500
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.89
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