Identification of MUTYH gene variants in a cohort of German patients with familial colorectal cancer (fCRC)

Introduction: Although up to 20% of colorectal cancer (CRC) patients show some kind of familiarity, genetic factors underlying polygenic fCRC have yet to be identified. Recently mutations of the base excision repair gene MUTYH have been reported as underlying genetic defect in autosomal-recessive colorectal adenomatous polyposis, with Y165C and G382D representing the most common mutations. Our aim now was to test a group of patients with strong evidence for CRC familiarity (but exclusion of the monogenic CRC syndromes FAP and HNPCC) for association with these two MUTYH mutations Y165C and G382D in comparison to…