| Theme | Lynch Syndrome and Hereditary Polyposis Syndromes | |
|---|---|---|
| Title | Medical Knowledge and Management of MUTYH—associated Polyposis | |
| Publish Date | 2019/06 | |
| Author | Kazuo Tamura | Department of Life Science, Faculty of Science and Engineering, Kindai University |
| [ Summary ] | In 2002, it was reported that biallelic mutations in the MUTYH gene caused a particular type of familial adenomatous polyposis (FAP). This new disease entity was termed MUTYH‒associated polyposis (MAP). Patients with MAP typically show a lesser number of polyps and a later onset of colorectal cancer than patients with other types of polyposis. The MUTYH gene plays an important role in the base excision repair pathway and encodes glycosylase for removal of adenine residues that are mispaired with 8‒oxoguanine. Disturbances in this aforementioned mechanism is implicated in the development of extracolonic tumors. Owing to genetic heterogeneity of FAP, diagnosing family members of patients is important. It is important to obtain genetic information of patients and their relatives. | |