Article
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2020
Hamzaoui Nadim, Alarcon Flora, Leulliot Nicolas, Guimbaud Rosine, Buecher Bruno, Colas Chrystelle, Corsini Carole, Nuel Gregory, Terris Benoît, Laurent-Puig Pierre, Chaussade Stanislas, Dhooge Marion, Madru Clément, Clauser Eric
Abstract excerpt
PURPOSE: Polymerase proofreading-associated polyposis is a dominantly inherited colorectal cancer syndrome caused by exonuclease domain missense variants in the DNA polymerases POLE and POLD1. Manifestations may also include malignancies at extracolonic sites. Cancer risks in this syndrome are not yet accurately quantified. METHODS: We sequenced POLE and POLD1 exonuclease domains in 354 individuals with...
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