Fig. 1
From: Germline variants in patients from the Iranian hereditary colorectal cancer registry
Germline variants in patients at risk for Lynch syndrome and colorectal polyposis. (A) Percentage of pathogenic/likely pathogenic (P/LP) variants and VUS in Lynch-related and non-Lynch genes of patients at risk for Lynch syndrome. (B) Number of different variants in four Lynch-related MLH1, PMS2, MSH2, and MSH6 genes. For example, in the MLH1 gene, from the P/LP variants, there is one nonsense, one frameshift, one splice donor variant, and five missense variants, while there is only one VUS frameshift variant. (C) Percentage of P/LP and VUS variants in patients with colorectal polyposis. (D) Number of different types of variants in two FAP/MAP genes of APC and MUTYH. MUTYHm: mono-allelic variants in the MUTYH gene; MUTYHb: bi-allelic variants in the MUTYH gene