Polymerase Proofreading-Associated Polyposis: A New, Dominantly Inherited Syndrome of Hereditary Colorectal Cancer Predisposition

被引：32

作者：

Church, James M. ^{[1
]}

机构：

[1] Cleveland Clin Fdn, Dept Colorectal Surg, Sanford R Weiss MD Ctr Hereditary Colorectal Neop, Cleveland, OH 44195 USA

来源：

DISEASES OF THE COLON & RECTUM | 2014年 / 57卷 / 03期

关键词：

POLE; POLD1; Hereditary colorectal cancer; Oligopolyposis; MUTATIONS; GERMLINE; COLON;

D O I：

10.1097/DCR.0000000000000084

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

100201 [内科学];

摘要：

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.

引用

页码：396 / 397

页数：2

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