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[Familial adenomatous polyposis]

S Olschwang1

  • 1Laboratoire de génétique des tumeurs, institut Curie, Paris, France.

Bulletin Du Cancer
|January 1, 1994
PubMed
Summary

Familial adenomatous polyposis (FAP) is a genetic disorder linked to APC gene mutations, increasing colorectal cancer risk. Genetic testing and early screening of at-risk relatives significantly reduce diagnosis age and cancer incidence.

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Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Context:

  • Familial adenomatous polyposis (FAP) is an inherited condition predisposing individuals to colorectal cancer.
  • The Adenomatous Polyposis Coli (APC) gene, located on chromosome 5, is implicated in FAP pathogenesis.
  • Recent advancements include the cloning and sequencing of the APC gene, revealing disease-causing mutations.

Purpose:

  • To summarize the genetic basis of Familial Adenomatous Polyposis.
  • To highlight the role of APC gene mutations in colorectal cancer development.
  • To discuss the clinical implications of genetic testing and early screening for FAP.

Summary:

  • Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by mutations in the APC gene, accounting for 1% of colorectal cancers.
  • Mutations in the APC gene, localized to chromosome 5q21-q22, have been identified in FAP patients, with some correlating to attenuated phenotypes.
  • A genetic test for FAP has been developed, enabling the identification of at-risk individuals within affected families.

Impact:

  • Genetic testing for FAP allows for early diagnosis in at-risk relatives.
  • Systematic screening of individuals with a family history of FAP has led to a reduced median age at diagnosis.
  • Early diagnosis and intervention significantly decrease the incidence of colorectal cancer in FAP patients.

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