Polymerase Proofreading-Associated Polyposis

2014/02/06 by James M. Church · 10 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Genetic factors in colorectal cancer #Cancer Genomics and Diagnostics #Colorectal Cancer Treatments and Studies

paper · doi:10.1097/dcr.0000000000000084

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.

Cited by

• The genetic basis of colonic adenomatous polyposis syndromes. [europepmc]
• Replicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy. [europepmc]
• POLE proofreading defects: Contributions to mutagenesis and cancer. [europepmc]
• Mutant POLQ and POLZ/REV3L DNA polymerases may contribute to the favorable survival of patients with tumors with POLE mutations outside the exonuclease domain. [europepmc]
• How many is too many? Polyposis syndromes and what to do next. [europepmc]
• Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel. [europepmc]
• Fanconi Anemia Pathway in Colorectal Cancer: A Novel Opportunity for Diagnosis, Prognosis and Therapy. [europepmc]
• Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test? [europepmc]
• Clinical characterization and analysis of the POLE gene in three Chinese patients with IMAGEI syndrome. [europepmc]
• Az immunosurveillance és az immunszerkesztés szerepe örökletes daganatos hajlamokban The role of immunosurveillance and immunoediting in hereditary cancer predisposition syndromes [europepmc]

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