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

doi:10.18632/oncotarget.15810

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Article

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

Oncotarget - 18 Apr 2017

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

Abstract excerpt

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 sequenced its exonuclease domain in 155 patients with multiple polyps or an early-onset colorectal cancer phenotype...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28423643
DOI: 10.18632/oncotarget.15810
PMCID: PMC5432293

Genes

POLE
POLD1

Variants

Provenance

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