| Theme | Recent advance in diagnosis and management of hereditary colorectal cancer | |
|---|---|---|
| Title | Medical knowledge and management of MUTYH associated polyposis | |
| Publish Date | 2013/10 | |
| Author | Kazuo Tamura | Department of Life Science, Faculty of Science and Engineering, Kinki University |
| Author | Mie Hamanaka | Division of Lower Gastrointestinal Surgery, Department of Surgery, Hyogo College of Medicine |
| Author | Tomoki Yamano | Division of Lower Gastrointestinal Surgery, Department of Surgery, Hyogo College of Medicine |
| Author | Nagahide Matsubara | Division of Lower Gastrointestinal Surgery, Department of Surgery, Hyogo College of Medicine |
| Author | Naohiro Tomita | Division of Lower Gastrointestinal Surgery, Department of Surgery, Hyogo College of Medicine |
| [ Summary ] | In 2002, it was reported that biallele mutations of the MUTYH gene cause a type of familial adenomatous polyposis (FAP). This novel entity was termed MUTYH-associated polyposis (MAP). A common characteristic MAP-patients exhibit is fewer polyps and advanced colorectal cancer in comparison with other polyposis-patients. The MUTYH gene is a base excision repair gene that encodes glycosylase in removal of adenine residues mispaired with 8-oxo-G. It is thought that the dysfunction may increase the risk of developing tumors in extra-colonic organs. Because of the genetic heterogeneity of FAP, we should pay very close attention to the diagnoses of family members. Surveys concerning the genetic information of patients and relatives are important. | |