Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

Am J Hum Genet. 1993 Nov;53(5):1031-7.


Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located on chromosome 5q21. We studied two families that both presented a phenotype different than that of the classical form of FAP. The most important findings observed in these two kindreds are (a) low and variable number of colonic polyps (from 5 to 100) and (b) a slower evolution of the disease, with colon cancer occurring at a more advanced age than in FAP in spite of the early onset of intestinal manifestations. To determine whether mutations of the APC gene are also responsible for this variant syndrome, linkage studies were performed by using a series of markers both intragenic and tightly linked to the APC gene. The results provide evidence for exclusion of the APC gene as the cause of the variant form of polyposis present in the two families described.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli / physiopathology
  • Base Sequence
  • DNA Primers
  • Female
  • Genes, APC*
  • Genetic Linkage
  • Genotype
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction


  • DNA Primers