The Genetics of Hereditary Non-Polyposis Colorectal Cancer

Authors:
Stephen B. Gruber From the Division of Molecular Medicine and Genetics, Departments of Internal Medicine and Epidemiology, University of Michigan, Ann Arbor, Michigan.

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 MD, PhD
and
Wendy Kohlmann From the Division of Molecular Medicine and Genetics, Departments of Internal Medicine and Epidemiology, University of Michigan, Ann Arbor, Michigan.

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 MD
Volume/Issue:
Volume 1: Issue 1
Online Publication Date:
Mar 2003
DOI:
https://doi.org/10.6004/jnccn.2003.0014
Full access

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant condition accounting for 3% to 5% of all colorectal cancer. HNPCC is caused by germline mutations in the mismatch repair system and is recognized by a characteristic clinical phenotype as well as a hallmark of the tumors termed “microsatellite instability.” Microsatellite instability serves as a molecular fingerprint for defective mismatch repair and has proven to be useful in the molecular diagnostic workup for HNPCC. The crystal structure of the DNA mismatch repair protein MutS has been solved, providing insight into the molecular basis of defective mismatch repair. Genetic testing has become a key component of the treatment of patients and families with HNPCC, and enhanced surveillance for HNPCC has been shown to reduce the rate of colorectal cancer by more than half and improve 10-year survival from 68% to 93%.

Correspondence: Stephen B. Gruber, MD, PhD, 4301 MSRBIII, 1150 W Medical Center Drive, Ann Arbor, MI 48109-0638; e-mail: sgruber@umich.edu.
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Copyright:
Copyright © 2003 by the National Comprehensive Cancer Network 2003
Page Numbers:
8
Article Category:
Research Article
Received:
11 Oct 2002
Accepted:
15 Nov 2002
Print Publication Date:
01 Mar 2003
Online Publication Date:
Mar 2003
Keywords:
Hereditary nonpolyposis colorectal cancer; genetic testing; Lynch syndrome
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