title: Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition.
abstract: Germline mutations in the exonuclease (proofreading) domains of 2 DNA polymerases (POLE and POLD1) have been associated with a dominantly inherited, highly penetrant syndrome of oligo adenomatous polyposis and early-age-of-diagnosis colorectal cancer and endometrial cancer. The loss of proofreading capability causes multiple mutations throughout the genome and is manifest as microsatellite-stable, chromosomal unstable cancers. This is an important addition to the range of dominantly inherited syndromes of colorectal cancer predisposition.
authors: Sanford R. Weiss, MD, Center for Hereditary Colorectal Neoplasia, Department of Colorectal Surgery, The Cleveland Clinic Foundation, Cleveland, Ohio.
authors: James M
authors: JM
authors: Church
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics*; D053843:DNA Mismatch Repair / Q000235:genetics; D004257:DNA Polymerase II / Q000235:genetics*; D004258:DNA Polymerase III / Q000235:genetics*; D004261:DNA Replication / Q000235:genetics; D005090:Exodeoxyribonucleases / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D010641:Phenotype; D000075223:Poly-ADP-Ribose Binding Proteins; D013577:Syndrome
chemical_list: D000075223:Poly-ADP-Ribose Binding Proteins; C434055:POLD1 protein, human; D004257:DNA Polymerase II; D004258:DNA Polymerase III; C119525:POLE protein, human; D005090:Exodeoxyribonucleases