Molecular and phenotypic markers of hamartomatous polyposis syndromes in the gastrointestinal tract

Mark M. Entius, Anne Marie Westerman, Marie Louise F. Van Velthuysen, J. H.Paul Wilson, Stanley R. Hamilton, Francis M. Giardiello, G. Johan A. Offerhaus

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


Hamartomatous gastrointestinal polyposis syndromes have always been considered as non-neoplastic. Nevertheless, an increased cancer risk both within and outside the gastrointestinal tract may exist in these syndromes. The hamartomatous polyps may sometimes harbor dysplasia, but their neoplastic potential is unknown. The genetic defects causing the hamartomatous syndromes are less well established than, for example, familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC). The genetic studies on the Mendelian inherited syndromes FAP and HNPCC have made a major contribution to the identification of genes involved in colorectal tumorigenesis. The genes involved in colorectal cancer development may also contribute to cancer development in the hamartomatous polyposis syndromes, and are currently under investigation. Furthermore, new insights into the development of various cancers may be obtained by the isolation and characterization of genes involved in Mendelian inherited hamartomatous polyposis syndromes. This report summarizes the available literature on this subject, and describes the pheno- and genotypic features of the hamartomatous syndromes of juvenile polyposis, Peutz-Jeghers syndrome, and Cowden's disease.

Original languageEnglish (US)
Pages (from-to)661-666
Number of pages6
Issue number26
StatePublished - 1999
Externally publishedYes


  • Cowden
  • FAP
  • Genotype
  • Hamartoma
  • Juvenile polyposis
  • Peutz-Jeghers
  • Phenotype
  • Polyposis

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology


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