MUTYH hotspot mutations in unselected colonoscopy patients.

Aim: Biallelic MutY human homologue (MUTYH) germline mutations predispose to recessively inherited adenomatous polyposis, designated MUTYH-associated polyposis (MAP), and colorectal cancer (CRC). The hotspot mutations p.Y179C and p.

Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development.

Purpose: Biallelic germ-line mutations in MUTYH have recently been found to predispose for MUTYH-associated polyposis (MAP). Affected patients present with a wide range of clinical phenotypes at the time of diagnosis, but there is little precise information about the natural course of this disease.

Results: Fourteen years of colonoscopic surveillance of an MAP patient (compound heterozygous p.