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Genetic Disorder Reference Sheet: Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
Lynch syndrome, now referred to as hereditary nonpolyposis colorectal cancer (HNPCC), was first identified in a family in 1895. In 1966, Henry Lynch reported a series of families with colon and other cancers in the Nebraska area. Today, the evidence shows that HNPCC is associated with germline pathogenic variants in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes.