Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas.

ABSTRACT:

Context

Patients with multiple colorectal adenomas may carry germline mutations in the APC or MUTYH genes.

Objectives

To determine the prevalence of pathogenic APC and MUTYH mutations in patients with multiple colorectal adenomas who had undergone genetic testing and to compare the prevalence and clinical characteristics of APC and MUTYH mutation carriers.

Design, setting, and participants

Cross-sectional study conducted among 8676 individuals who had undergone full gene sequencing and large rearrangement analysis of the APC gene and targeted sequence analysis for the 2 most common MUTYH mutations (Y179C and G396D) between 2004 and 2011. Individuals with either mutation underwent full MUTYH gene sequencing. APC and MUTYH mutation prevalence was evaluated by polyp burd

SUBMITTER: Grover S 

PROVIDER: S-EPMC3770297 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature