Format

Send to

Choose Destination
Dis Colon Rectum. 2014 Mar;57(3):396-7. doi: 10.1097/DCR.0000000000000084.

Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition.

Author information

1
Sanford R. Weiss, MD, Center for Hereditary Colorectal Neoplasia, Department of Colorectal Surgery, The Cleveland Clinic Foundation, Cleveland, Ohio.

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.

PMID:
24509466
DOI:
10.1097/DCR.0000000000000084
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wolters Kluwer
Loading ...
Support Center