Identification of Lynch syndrome among patients with colorectal cancer.

ABSTRACT:

Context

Lynch syndrome is the most common form of hereditary colorectal cancer (CRC) and is caused by germline mutations in DNA mismatch repair (MMR) genes. Identification of gene carriers currently relies on germline analysis in patients with MMR-deficient tumors, but criteria to select individuals in whom tumor MMR testing should be performed are unclear.

Objective

To establish a highly sensitive and efficient strategy for the identification of MMR gene mutation carriers among CRC probands.

Design, setting, and patients

Pooled-data analysis of 4 large cohorts of newly diagnosed CRC probands recruited between 1994 and 2010 (n = 10,206) from the Colon Cancer Family Registry, the EPICOLON project, the Ohio State University, and the University of Helsinki examining pers

SUBMITTER: Moreira L 

PROVIDER: S-EPMC3873721 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature