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- Publisher
- Springer Journals
- Copyright
- Copyright © 2005 by Springer
- Subject
- Medicine & Public Health; Human Genetics; Oncology; Epidemiology
- ISSN
- 1389-9600
- eISSN
- 1573-7292
- DOI
- 10.1007/s10689-004-4489-x
- pmid
- 16136380
- Publisher site
- See Article on Publisher Site
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.
Journal
Familial Cancer – Springer Journals
Published: Sep 29, 2004