Abstract
Familial adenomatous polyposis (FAP) is a disorder in which multiple adenomatous polyps develop in the gastrointestinal tract, especially in the large intestine with hereditary factor. The gene responsible for classical FAP is the APC gene encoding a molecule that controls the Wnt signal transduction pathway restrainingly. MUTYH is another causal gene, and is a base excision repair gene that encodes α-glycosylase involved in the removal of adenine residues mispaired with 8-oxo-7, 8-dihydro2'deoxyguanosine (8-OHG), the oxidized form of guanine residue. Biallelic mutations of the MUTYH gene cause multiple adenomatous polyps in the large intestine. This genetic condition is called MUTYH-associated polyposis (MAP). Furthermore, a recent study clarified that some alterations of the two genes, which encode different DNA polymerase, cause multiple colorectal polyps. Genetic testing is possible based on this knowledge, and it is thought that molecular biological development may lead to more appropriate medical treatment.
