Lynch Syndrome

Lynch syndrome is a congenital disorder that is closely related to frequent occurrence of malignant diseases, especially certain forms of colon cancer. Another name for this condition is hereditary nonpolyposis colorectal cancer (HNPCC).


The syndrome is caused by congenital mutation of certain genes that are important for DNA repair in the cells. The malfunction of these genes causes accumulation of genetic mutations and this significantly increases the risk of malignant changes of body cells. Familial occurrence is typical for Lynch syndrome manifesting with common occurrence of malignant tumors (“cancer families”).


Patients with Lynch syndrome have increased risk of colon cancer, typically its forms that occur without previous polypous stage. Furthermore, there is an increased risk of other cancers such as uterine cancer, stomach cancer, pancreatic cancer, liver cancer, cancers of biliary tract and many others. The tumors may occur in abnormally young age.


People with positive confirmation of Lynch syndrome in their family can be genetically tested. Genetic testing can confirm the mutation. Patients with the mutation should attend special preventive programs for early detection of tumors to make possible their effective therapy. These examinations include for example regular upper GI endoscopy, colonoscopy, abdominal ultrasound, gynecological examination and others. Any suspicious lesions found in the colon should be solved by a biopsy and sent for histological examination.


The disease can not be cured. The only possible option is early detection of any tumor and its aggressive treatment, in ideal case surgical. However, the life expectancy of patients with Lynch syndrome is generally shorter than in healthy individuals.


Jiri Stefanek, MD  Author of texts: Jiri Stefanek, MD
 Sources: basic text sources