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Gastrointestinal polyposis syndromes.

Mary P Bronner1

  • 1Cleveland Clinic Foundation, Cleveland, Ohio 44022, USA. bronnem@ccf.org

American Journal of Medical Genetics. Part A
|October 1, 2003
PubMed
Summary
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Genetic testing is available for seven major gastrointestinal polyposis syndromes. This review covers genetic and clinicopathologic features, emphasizing cancer predisposition and available genetic testing resources.

Area of Science:

  • Gastroenterology
  • Genetics
  • Oncology

Background:

  • Numerous polyposis syndromes affect the gastrointestinal (GI) tract.
  • Both non-hereditary and hereditary forms of these syndromes exist.
  • The causative genes for the seven major syndromes are now identified.

Purpose of the Study:

  • To review the genetic and clinicopathologic features of GI polyposis syndromes.
  • To emphasize the cancer predisposition associated with these conditions.
  • To inform about the availability of genetic testing.

Main Methods:

  • Literature review of genetic and clinicopathologic features.
  • Focus on cancer predisposition in polyposis syndromes.
  • Information compilation on genetic testing resources.

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Main Results:

  • Seven major GI polyposis syndromes have identified causative genes.
  • Understanding of genetic and clinicopathologic features is advancing.
  • Genetic testing is accessible for these syndromes.

Conclusions:

  • Genetic testing is crucial for managing GI polyposis syndromes.
  • Awareness of cancer predisposition is key for early detection and intervention.
  • Publicly funded resources like GeneTests-GeneClinics facilitate access to genetic information and testing.