Defining HNPCC and Lynch syndrome: what's in a name?

Dear Sir, In June 2013, the Mallorca Group published revised guidelines for the clinical management of Lynch syndrome.1 In the title, HNPCC (Hereditary NonPolyposis Colorectal Cancer) is equated with Lynch syndrome, continuing a misuse of terms that has fuelled confusion for many years. The two terms describe different, although overlapping, diseases: the distinction is critical to an accurate understanding of hereditary colorectal cancer. HNPCC is defined clinically, usually as families satisfying Amsterdam I or II criteria.2 Lynch syndrome is defined genetically, by the presence of a germline mutation in DNA mismatch repair (MMR) or EPCAM genes.3 Not all HNPCC families have Lynch syndrome and not all Lynch syndrome families have HNPCC. To determine the extent of the misuse of terms, we searched PubMed and Medline databases in 2013 for the keywords ‘Lynch syndrome’ and ‘HNPCC’. One hundred and sixty-seven unique references were found,...

Source: Gut - August 3, 2014 Category: Gastroenterology Authors: Kravochuck, S. E., Kalady, M. F., Burke, C. A., Heald, B., Church, J. M. Tags: PostScript Source Type: research