Familial Cancer

, Volume 4, Issue 3, pp 211–218 | Cite as

Evolution of the Nomenclature for the Hereditary Colorectal Cancer Syndromes

  • C. Richard BolandEmail author


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.


Public Health Colorectal Cancer Family History Genetic Basis Germline Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer 2005

Authors and Affiliations

  1. 1.Division of Gastroenterology, Medical CenterBaylor UniversityDallasUSA

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