Establishing a diagnostic road map for MUTYH-associated polyposis

Clin Cancer Res. 2014 Mar 1;20(5):1061-3. doi: 10.1158/1078-0432.CCR-13-3295. Epub 2014 Jan 31.

Abstract

The analysis of MUTYH-associated polyposis cases of the EPIPOLIP cohort confirms the importance of including serrated polyps in the diagnostic work-up of patients with oligopolyposis, suggests a role for screening polyps for the somatic c.34G>T KRAS mutation, and allows the implementation of a genetic testing strategy based on population data.

Publication types

  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Adenomatous Polyposis Coli / diagnosis*
  • Adenomatous Polyposis Coli / genetics*
  • Colonic Polyps / genetics*
  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / genetics*
  • DNA Glycosylases / genetics*
  • Female
  • Humans
  • Male
  • Mutation*

Substances

  • DNA Glycosylases
  • mutY adenine glycosylase