| Theme |
Recent Topics of Hereditary Colorectal Disease |
| Title |
Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) |
| Author |
Hiroki Tanaka |
First Department of Internal Medicine, Sapporo Medical University |
| Author |
Kentaro Yamashita |
First Department of Internal Medicine, Sapporo Medical University |
| Author |
Akira Goto |
First Department of Internal Medicine, Sapporo Medical University |
| Author |
Hiroyuki Yamamoto |
First Department of Internal Medicine, Sapporo Medical University |
| Author |
Yoshiaki Arimura |
First Department of Internal Medicine, Sapporo Medical University |
| Author |
Yasuhisa Shinomura |
First Department of Internal Medicine, Sapporo Medical University |
| [ Summary ] |
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder characterized by early age of onset, multiple colorectal cancers, and the development of neoplastic lesions in a variety of tissues. Microsatellite instability (MSI) has been observed in about 90 percent of tumor tissue from patients with HNPCC. HNPCC is caused by germilne mutations in DNA mismatch repair genes. A diagnosis of HNPCC is performed based on the revised Amsterdam criteria or the Japanese clinical criteria and requires the taking of a detailed medical history. In addition, based on the revised Bethesda Guidelines, methods to search for the germline mutation of a DNA mismatch repair gene from the results of MSI testing or immunostaining of MSH2 / MLH1 are useful. |