MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.

ABSTRACT:

Purpose

Early-onset colorectal cancer (CRC) is suggestive of a hereditary predisposition. Lynch syndrome is the most frequent CRC hereditary cause. The MUTYH gene has also been related to hereditary CRC. A systematic characterization of these two diseases has not been reported previously in this population.

Experimental design

We studied a retrospectively collected series of 140 patients ≤50 years old diagnosed with nonpolyposis CRC. Demographic, clinical, and familial features were obtained. Mismatch repair (MMR) deficiency was determined by microsatellite instability (MSI) analysis, and immunostaining for MLH1, MSH2, MSH6, and PMS2 proteins. Germline MMR mutations were evaluated in all MMR-deficient cases. Tumor samples with loss of MLH1 or MSH2 protein expression were ana

SUBMITTER: Giraldez MD 

PROVIDER: S-EPMC3032288 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature