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Familial Cancer
Published in: Familial Cancer 1/2008

01-03-2008

The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch Syndrome: from bench to bedside

Authors: C. Richard Boland, Minoru Koi, Dong K. Chang, John M. Carethers

Published in: Familial Cancer | Issue 1/2008

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Abstract

Lynch syndrome is an inherited disease caused by a germline mutation in one of four DNA mismatch repair (MMR) genes. The clinical manifestations can be somewhat variable depending upon which gene is involved, and where the mutation occurs. Moreover, the approach to the diagnosis of Lynch syndrome is becoming more complex as more is learned about the disease, and one needs to understand how the DNA MMR proteins function, and what makes them malfunction, to have an optimal appreciation of how to interpret diagnostic studies such as microsatellite instability and immunohistochemistry of the DNA MMR proteins. Finally, an understanding of the role of the DNA MMR system in regulation of the cell cycle and the response to DNA damage helps illuminate the differences in natural history and response to chemotherapeutic agents seen in Lynch syndrome.
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Metadata
Title
The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch Syndrome: from bench to bedside
Authors
C. Richard Boland
Minoru Koi
Dong K. Chang
John M. Carethers
Publication date
01-03-2008
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 1/2008
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-007-9145-9

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