POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

PURPOSE: Germ-line mutations in the exonuclease domains of POLE and POLD1 have been recently associated with polyposis and colorectal cancer (CRC) predisposition. Here, we aimed to gain a better understanding of the phenotypic characteristics of this syndrome to establish specific criteria for POLE...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Bellido, Fernando, Pineda, Marta, Aiza, Gemma, Valdés-Mas, Rafael, Navarro, Matilde, Puente, Diana A., Pons, Tirso, González, Sara, Iglesias, Silvia, Darder, Esther, Piñol, Virginia, Soto, José Luís, Valencia, Alfonso, Blanco, Ignacio, Urioste, Miguel, Brunet, Joan, Lázaro, Conxi, Capellá, Gabriel, Puente, Xose S., Valle, Laura
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Original Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4823640/
https://ncbi.nlm.nih.gov/pubmed/26133394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.75
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