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Clinical Description of the Lynch Syndrome [Hereditary Nonpolyposis Colorectal Cancer (HNPCC)]

Clinical Description of the Lynch Syndrome [Hereditary Nonpolyposis Colorectal Cancer (HNPCC)] The Lynch syndrome [Hereditary Nonpolyposis Colorectal Cancer (HNPCC)] is a dominantly inherited syndrome characterized by the development of a variety of cancers including cancer of colorectum, endometrium, and less frequently, cancer of the small bowel, stomach, urinary tract, ovaries, and brain. The syndrome is due to a mutation in one of the DNA-mismatch repair (MMR) genes. The main features of the syndrome are an early age of onset and the occurrence of multiple tumors. Knowledge of the specific features of the syndrome is crucial for the identification of the Lynch syndrome. In previous years, the Amsterdam criteria were used for recognition of the syndrome. Since we know that the Lynch syndrome is caused by an MMR defect and that the hallmark of the syndrome is microsatellite instability (MSI), more attention should be given to the so-called Bethesda guidelines. These guidelines describe practically all clinical conditions in which there is suspicion of the Lynch syndrome and in which a search for MSI is indicated. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Familial Cancer Springer Journals

Clinical Description of the Lynch Syndrome [Hereditary Nonpolyposis Colorectal Cancer (HNPCC)]

Vasen, H.
Familial Cancer , Volume 4 (3) – Sep 10, 2004
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References (64)

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/s10689-004-3906-5
pmid
16136381
Publisher site
See Article on Publisher Site

Abstract

The Lynch syndrome [Hereditary Nonpolyposis Colorectal Cancer (HNPCC)] is a dominantly inherited syndrome characterized by the development of a variety of cancers including cancer of colorectum, endometrium, and less frequently, cancer of the small bowel, stomach, urinary tract, ovaries, and brain. The syndrome is due to a mutation in one of the DNA-mismatch repair (MMR) genes. The main features of the syndrome are an early age of onset and the occurrence of multiple tumors. Knowledge of the specific features of the syndrome is crucial for the identification of the Lynch syndrome. In previous years, the Amsterdam criteria were used for recognition of the syndrome. Since we know that the Lynch syndrome is caused by an MMR defect and that the hallmark of the syndrome is microsatellite instability (MSI), more attention should be given to the so-called Bethesda guidelines. These guidelines describe practically all clinical conditions in which there is suspicion of the Lynch syndrome and in which a search for MSI is indicated.

Journal

Familial Cancer – Springer Journals

Published: Sep 10, 2004

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