Role of POLE and POLD1 in familial cancer

PURPOSE: Germline pathogenic variants in the exonuclease domain (ED) of polymerases POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC), endometrial tumors, and other malignancies, and exhibit increased mutation rate and highly specific associated mutational signatures. The tumo...

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Detalles Bibliográficos
Autores principales: Mur, Pilar, García-Mulero, Sandra, del Valle, Jesús, Magraner-Pardo, Lorena, Vidal, August, Pineda, Marta, Cinnirella, Giacomo, Martín-Ramos, Edgar, Pons, Tirso, López-Doriga, Adriana, Belhadj, Sami, Feliubadaló, Lidia, Munoz-Torres, Pau M., Navarro, Matilde, Grau, Elia, Darder, Esther, Llort, Gemma, Sanz, Judit, Ramón y Cajal, Teresa, Balmana, Judith, Brunet, Joan, Moreno, Victor, Piulats, Josep M., Matías-Guiu, Xavier, Sanz-Pamplona, Rebeca, Aligué, Rosa, Capellá, Gabriel, Lázaro, Conxi, Valle, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7708298/
https://www.ncbi.nlm.nih.gov/pubmed/32792570
http://dx.doi.org/10.1038/s41436-020-0922-2

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