Lynch syndrome - etiology, diagnostics and therapy

Lynch syndrome (hereditary nonpolyposis colorectal cancer, HNPCC) is an inherited disease with an autosomal dominant pattern of inheritance with high penetrance leading to an early development of colorectal cancer, endometrial cancer and other malignancies. This disease is caused by germline mutations of genes MLH1, MSH2, PMS2, MSH6, MLH3 and TGFBR2. Diagnosis of this disease includes Amsterdam Criteria and genetic testing. Therapy takes place by surgical, chemoprevention and chemical medication. The incidence of Lynch syndrome is relatively high: 1:2000 up to 1:660