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Testing guidelines for hereditary non-polyposis colorectal cancer

Nature Reviews Cancer volume 4, pages 153–158 (2004)Cite this article

Abstract

Hereditary non-polyposis colorectal cancer is almost always associated with microsatellite instability, so what is the best way to identify the disorder at an early-stage, and what should the next step be in preventing the development of colorectal cancer? Different clinical and molecular diagnostic guidelines have recently been proposed in the context of recent scientific advances, but how are these criteria interpreted and modified across the world?

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Figure 1: Role of mismatch repair in maintaining microsatellite sequences.
Figure 2: Strategy for genetic testing of affected individuals from families with suspected hereditary non-polyposis colorectal cancer.

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Acknowledgements

The authors would like to acknowledge the participants of the National Cancer Institute Diagnostic Criteria for Hereditary non-Polyposis Colorectal Cancer and Microsatellite Instability meeting, which led to the development and publication (reference 6) of the revised Bethesda guidelines.

Author information

Authors and Affiliations

  1. the Division of Cancer Prevention and Center for Cancer Research, National Cancer Institute, Bethesda, 20892, Maryland, USA

    Asad Umar, John I. Risinger, Ernest T. Hawk & J. Carl Barrett

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  1. Asad Umar
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  2. John I. Risinger
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  3. Ernest T. Hawk
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  4. J. Carl Barrett
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Corresponding author

Correspondence to Asad Umar.

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The authors declare no competing financial interests.

Related links

Related links

DATABASES

Cancer.gov

colorectal cancer

endometrial cancer

LocusLink

APC

BAX

IGF2R

MLH1

MSH2

MSH3

MSH6

PMS1

PMS2

TCF4

TGF-βRII

OMIM

familial adenomatous polyposis

hereditary non-polyposis colorectal cancer

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Umar, A., Risinger, J., Hawk, E. et al. Testing guidelines for hereditary non-polyposis colorectal cancer. Nat Rev Cancer 4, 153–158 (2004). https://doi.org/10.1038/nrc1278

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