Theme |
Recent advance in diagnosis and management of hereditary colorectal cancer |
Title |
Lynch syndrome -- Overview and diagnosis |
Author |
Naohiro Tomita |
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 |
Kazuo Tamura |
Department of Life Science, Faculty of Science and Engineering, Kinki University |
[ Summary ] |
Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is a cancer predisposing autosomal-dominant hereditary disorder due to the defect in the mismatch repair (MMR) system. Considering clinical features such as relatively high frequency associated colorectal cancers, onset at younger age, and occurrence of multiple malignancies in various organs, this syndrome is a very important clinical entity. Knowledge and skill of genetic testing and/or counseling is necessary, and multidisciplinary approaches are required for the management of Lynch syndrome. Investigation of the molecular mechanism of this condition has contributed greatly to cancer research. |