The intestinal polyposes: Clinical and molecular overview

Tiziana Venesio, Maurizio Genuardi

Research output: Chapter in Book/Report/Conference proceedingChapter


Intestinal polyposis syndromes are characterized by the development of multiple polyps throughout the colorectum and the GI tract. They can be differentiated based on clinical characteristics, including age at onset, type, number, and histology of polyps, extraintestinal manifestations, and pattern of familial recurrence. However, there is phenotypic overlap among the different forms, and clinical examination may not be sufficient to obtain a diagnosis. Most polyposes have a genetic basis, and the number of genes that are known to be involved in these conditions is growing. There are now eight types of polyposis, due to ten different genes, which can be distinguished based on the combination of clinical characteristics and underlying molecular mechanisms. The identification of the genetic defects underlying intestinal polyposes has been greatly facilitated by the advent of high-throughput sequencing technologies, which allow simultaneous analyses of multiple genes in a faster and less expensive way than conventional methods. Genetic diagnosis is therefore moving to the forefront of the clinical work up of polyposis patients and their families.

Original languageEnglish
Title of host publicationIntestinal Polyposis Syndromes: Diagnosis and Management
PublisherSpringer International Publishing
Number of pages24
ISBN (Electronic)9783319281032
ISBN (Print)9783319281018
Publication statusPublished - Jan 1 2016


  • Adenomatous polyposis
  • Hereditary mixed polyposis syndrome
  • Hyperplastic polyposis
  • Jeghers syndrome
  • Juvenile polyposis
  • Peutz
  • Polymerase proofreading domain
  • Serrated polyposis

ASJC Scopus subject areas

  • Medicine(all)


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