Diseases of the Colon & Rectum

, Volume 44, Issue 3, pp 437–446 | Cite as

Role of molecular diagnostic testing in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer families

  • Rogério Rabelo
  • William Foulkes
  • Philip H. Gordon
  • Nora Wong
  • Zhi Qiang Yuan
  • Elizabeth MacNamara
  • George Chong
  • Leonard Pinsky
  • Dana Lasko
Current Status


PURPOSE: Genetic tests are available for familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer. The goal of this review was to develop an algorithm for application of molecular diagnostic techniques to the management of hereditary colorectal carcinoma and to familiarize the clinician with the vocabulary of molecular genetic testing for hereditary colorectal carcinoma. METHODS: Studies examining the clinical use of genetic testing for hereditary colorectal carcinoma syndromes are evaluated. Recent advances in molecular genetic technology are reviewed, and clinical management as practiced here and elsewhere is outlined. RESULTS: This review is a guide to the most reliable molecular diagnostic techniques. Three key questions are answered: who, when, and how to test. CONCLUSIONS: When integrated with existing testing protocols for colorectal carcinoma and when applied with appropriate caveats, particularly regarding interpretation of negative results, genetic testing can result in improved management of patients and families.

Key words

Genetic testing Hereditary colorectal cancer syndromes Mutation detection 


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Copyright information

© The American Society of Colon and Rectal Surgeons 2001

Authors and Affiliations

  • Rogério Rabelo
    • 1
  • William Foulkes
    • 2
    • 4
    • 5
  • Philip H. Gordon
    • 3
  • Nora Wong
    • 4
    • 5
  • Zhi Qiang Yuan
    • 3
    • 5
  • Elizabeth MacNamara
    • 3
  • George Chong
    • 1
  • Leonard Pinsky
    • 2
    • 4
    • 5
  • Dana Lasko
    • 3
    • 4
  1. 1.From the Department of Medical BiochemistrySir Mortimer B. Davis-Jewish General Hospital and McGill UniversityMontrealCanada
  2. 2.the Department of MedicineSir Mortimer B. Davis-Jewish General Hospital and McGill UniversityMontrealCanada
  3. 3.the Department of SurgerySir Mortimer B. Davis-Jewish General Hospital and McGill UniversityMontrealCanada
  4. 4.the Department of Human GeneticsSir Mortimer B. Davis-Jewish General Hospital and McGill UniversityMontrealCanada
  5. 5.Cancer Prevention Research UnitSir Mortimer B. Davis-Jewish General Hospital and McGill UniversityMontrealCanada

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