title: Evolution of the nomenclature for the hereditary colorectal cancer syndromes.
abstract: The hereditary forms of colorectal cancer have been given many names historically as the manifestations have been gradually understood. Lynch syndrome has had several names, most prominently 'Hereditary Nonpolyposis Colorectal Cancer' or HNPCC. Clarification of the genetic basis and full phenotypic expression of this disease mandates a more clinically useful name that clarifies the consideration of non-colonic cancers in a family history, and unifies the diagnosis around the germline mutation in a DNA mismatch repair (MMR) gene. The term 'Lynch syndrome' is proposed for the autosomal dominant disease caused by a germline mutation in a DNA MMR gene.
authors.affiliation: Division of Gastroenterology, Medical Center, Baylor University, 4 Hoblitzelle, 3500 Gaston Ave., Dallas, TX, 75246, USA. RickBo@BaylorHealth.edu
authors.forename: C Richard
authors.initials: CR
authors.lastname: Boland
mesh_terms: D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000145:classification*; D004260:DNA Repair; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000145:classification*; D009626:Terminology as Topic