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Related Experiment Videos

Familial adenomatous polyposis

D C de Silva1, R Fernando

  • 1Department of Paediatrics, Faculty of Medicine of the University of Ruhuna, Galle, Sri Lanka.

The Ceylon Medical Journal
|August 15, 1998
PubMed
Summary
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Familial adenomatous polyposis (FAP) is an inherited condition causing numerous colon polyps. Early genetic testing and screening in at-risk families can prevent colorectal cancer (CRC).

Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Familial adenomatous polyposis (FAP) is a rare, autosomal dominant inherited disorder.
  • It is characterized by the development of numerous adenomatous polyps in the colon and rectum.
  • FAP accounts for less than 1% of colorectal carcinomas (CRCs), but is a preventable cause.

Purpose of the Study:

  • To emphasize the importance of clinician knowledge regarding FAP for early identification and management.
  • To highlight the role of genetic testing and extra-colonic manifestations in identifying at-risk family members.
  • To underscore FAP's contribution to understanding sporadic CRC development.

Main Methods:

  • Review of FAP's genetic basis and inheritance patterns.
  • Discussion of diagnostic approaches including genetic testing and clinical evaluation.

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  • Emphasis on targeted screening and preventive strategies for affected families.

    • Main Results:

    • Identification of at-risk individuals through genetic testing and assessment of extra-colonic features.
    • Enabling targeted screening and preventive surgery for those with the predisposing gene.
    • FAP serves as a model for studying sporadic CRC.

    Conclusions:

    • Adequate clinician knowledge of FAP is crucial for timely diagnosis and patient/family management.
    • Genetic testing and clinical assessment facilitate precise identification of at-risk individuals.
    • Understanding FAP enhances insights into colorectal cancer prevention and progression.