Seven patients had P/LP variants in colorectal cancer risk -associated genes MUTYH and PMS2. Four of them had a single P variant in MUTYH – p.Arg19Ter (n = 1) and hotspot variants p.Gly396Asp (n = 2), and p.Tyr179Cys (n = 1); while one pediatric patient was compound heterozygous for the hotspot variants p.Gly396Asp and p.Tyr179Cys. Here, PMS2 is linked to colorectal cancer.