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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Veröffentlicht in:Genet Med
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2016
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Original Research Article
Online Zugang: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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