Familial Cancer

, Volume 4, Issue 3, pp 211–218

Evolution of the Nomenclature for the Hereditary Colorectal Cancer Syndromes



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.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Springer 2005

Authors and Affiliations

  1. 1.Division of Gastroenterology, Medical CenterBaylor UniversityDallasUSA

Personalised recommendations