A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.

ABSTRACT:

Background

defective DNA repair has a causal role in hereditary colorectal cancer (CRC). Defects in the base excision repair gene MUTYH are responsible for MUTYH-associated polyposis and CRC predisposition as an autosomal recessive trait. Numerous reports have suggested MUTYH mono-allelic variants to be low penetrance risk alleles. We report a large collaborative meta-analysis to assess and refine CRC risk estimates associated with bi-allelic and mono-allelic MUTYH variants and investigate age and sex influence on risk.

Methods

MUTYH genotype data were included from 20 565 cases and 15 524 controls. Three logistic regression models were tested: a crude model; adjusted for age and sex; adjusted for age, sex and study.

Results

all three models produced very similar resu

SUBMITTER: Theodoratou E 

PROVIDER: S-EPMC3008602 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature