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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Publicat a:Genet Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2016
Matèries:
Original Research Article
Accés en línia: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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