POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

Germline mutations in POLE and POLD1 have been shown to cause predisposition to colorectal multiple polyposis and a wide range of neoplasms, early-onset colorectal cancer being the most prevalent. In order to find additional mutations affecting the proofreading activity of these polymerases, we sequ...

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Bibliographic Details
Published in:	Oncotarget Vol. 8; no. 16; pp. 26732 - 26743
Main Authors:	Esteban-Jurado, Clara, Giménez-Zaragoza, David, Muñoz, Jenifer, Franch-Expósito, Sebastià, Álvarez-Barona, Miriam, Ocaña, Teresa, Cuatrecasas, Miriam, Carballal, Sabela, López-Cerón, María, Marti-Solano, Maria, Díaz-Gay, Marcos, van Wezel, Tom, Castells, Antoni, Bujanda, Luis, Balmaña, Judith, Gonzalo, Victoria, Llort, Gemma, Ruiz-Ponte, Clara, Cubiella, Joaquín, Balaguer, Francesc, Aligué, Rosa, Castellví-Bel, Sergi
Format:	Journal Article
Language:	English
Published:	United States Impact Journals LLC 18-04-2017
Subjects:	Adenomatous Polyposis Coli - diagnosis Adenomatous Polyposis Coli - genetics Adolescent Adult Age of Onset Aged Aged, 80 and over Alleles Amino Acid Substitution Child Child, Preschool Colorectal Neoplasms - diagnosis Colorectal Neoplasms - genetics Colorectal Neoplasms - prevention & control DNA Polymerase II - chemistry DNA Polymerase II - genetics DNA Polymerase III - chemistry DNA Polymerase III - genetics Female Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Humans Infant Infant, Newborn Male Middle Aged Models, Molecular Mutation Pedigree Poly-ADP-Ribose Binding Proteins - chemistry Poly-ADP-Ribose Binding Proteins - genetics Protein Conformation Protein Domains - genetics Research Paper Young Adult colorectal adenoma genetic predisposition to disease colorectal neoplasm POLE POLD1
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