Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition.
Level V
Where this comes from
- Record sourced from PubMed, PMID 24509466.
- Also identified by DOI 10.1097/DCR.0000000000000084.
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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.
Medical subject headings
- Adenomatous Polyposis Coli
- Colorectal Neoplasms
- DNA Polymerase II
- DNA Polymerase III
- Genetic Predisposition to Disease