Disease Model: Familial Adenomatous Polyposis

Trends Mol Med. 2001 Aug;7(8):369-73. doi: 10.1016/s1471-4914(01)02050-0.


Mutations in the APC gene are responsible for familial adenomatous polyposis (FAP) and for the majority of sporadic colorectal cancers. The establishment of genotype-phenotype correlations in FAP is often complicated by the great clinical variability observed among carriers of the same APC mutation even within the same kindred. This variability is likely to arise from the interaction of genetic and environmental modifying factors, the dissection of which ideally requires the employment of mouse models where the effects of specific Apc mutations are analyzed in an inbred, homogeneous genetic background and a controlled environment. The availability of different Apc mouse models allows not only the establishment of more precise genotype-phenotype correlations but has also provided very important clues for the understanding of the function of APC in homeostasis and tumorigenesis. Also, the close phenotypic resemblance to the human disease makes these mice unique preclinical models to test chemopreventive and therapeutic interventions.

Publication types

  • Review

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli / pathology*
  • Animals
  • Disease Models, Animal*
  • Genes, APC / genetics*
  • Genotype
  • Humans
  • Intestinal Neoplasms / genetics*
  • Intestinal Neoplasms / pathology*
  • Mice
  • Mutation / genetics
  • Phenotype