Rare Variants in the DNA Repair Pathway and the Risk of Colorectal Cancer.

ABSTRACT:

Background

Inherited susceptibility is an important contributor to colorectal cancer risk, and rare variants in key genes or pathways could account in part for the missing proportion of colorectal cancer heritability.

Methods

We conducted an exome-wide association study including 2,327 cases and 2,966 controls of European ancestry from three large epidemiologic studies. Single variant associations were tested using logistic regression models, adjusting for appropriate study-specific covariates. In addition, we examined the aggregate effects of rare coding variation at the gene and pathway levels using Bayesian model uncertainty techniques.

Results

In an exome-wide gene-level analysis, we identified ST6GALNAC2 as the top associated gene based on the Bayesian ris

SUBMITTER: Matejcic M 

PROVIDER: S-EPMC8102340 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature