Aim: Biallelic 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.G396D account for the majority of pathogenic variants in Caucasians. Our aim was to evaluate the prevalence of MUTYH mutations in clinical routine patients with different colorectal diseases. Method:The hotspot mutations p.Y179C and p.G396D were genotyped in 352 consecutive patients undergoing colonoscopy at our tertiary referral centre. Exons 2-14 were sequenced in hotspot mutation carriers to exclude additional variants.

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