Abstract
Introduction: Occurrence of colorectal cancer is sporadic in significant number of cases, but we have to concentrate the familial and the autosomal dominant conditions, too. Hereditary Nonpolyposis Colorectal Cancer syndrome (HNPCC or Lynch-syndrome) is characterized by early onset CRC and endometrial cancer, although the incidence of other malignant tumours, e.g. cancers of the stomach, urothelium, small bowel and ovarium, is also increased in HNPCC patients. HNPCC is autosomal dominantly inherited and is associated with germline mutations in at least six mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS1 and PMS2, EPCAM). The identification of carriers is usually based on screening individuals from families fulfilling international criteria for the syndrome, namely Amsterdam criteria or less stringent criteria referred to as the Bethesda guidelines.
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