MUTYH: Not just polyposis

Figure 1 MUTYH functional domains and its binding partners (see UniProtKB - E5KP25). RPA: Replication protein A; MSH6: MutS 6 homolog; APE1: AP endonuclease 1; PCNA: Proliferating cell nuclear antigen; HUS1: Checkpoint clamp component. APE1, PCNA and well-known representative typical mutations of MUTYH (see all variants in ClinVar database); the mutation nomenclature is based on MUTYH longest transcript.

Figure 2 Roles of MUTYH in cancer. CRC: Colorectal cancer; MAP: MUTYH associated polyposis syndrome; SNP: Single nucleotide polymorphism. A: Functional MUTYH prevents G:C > A:T transversion caused by oxidative stress; B: Non-functional MUTYH predisposes to G:C > A:T somatic transversion and carcinogenesis; i.e. polyposis and CRC; C: Tumor risk from non-functional MUTYH.