Genetic testing of the mismatch repair genes in our clinical practice – Case report of two HNPCC families

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…