Basic Sciences and Genetics: Hamartomatous Polyposis

  • James R. HoweEmail author
  • Daniel Calva
Part of the M.D. Anderson Solid Tumor Oncology Series book series (MDA, volume 5)


It can be challenging to distinguish between the various hamartomatous polyposis syndromes based upon the histology of polyps, as not all patients present with pathognomonic signs of one of these specific conditions. The discovery of several causative genes for the hamartomatous polyposis syndromes has added a new dimension to the classification of these patients, allowing for demarcation on a molecular basis. Clinicians can then be aware of other anomalies to look for, and can perform presymptomatic diagnosis of at-risk individuals. This chapter will cover the history of the discovery of the predisposing genes, the types of mutations found, the function of these genes, and genotype–phenotype correlations identified for the major hamartomatous polyposis syndromes.


Juvenile polyposis Cowden syndrome Peutz–Jeghers syndrome Hamartomatous polyposis Genetics Gastric cancer Colorectal cancer SMAD4 Bone morphogenetic protein receptor (BMPR1A) Autosomal dominant 


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© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  1. 1.Surgical Oncology and Endocrine Surgery, Roy J. and Lucille A. CarverUniversity of Iowa College of MedicineIowa CityUSA
  2. 2.Department of SurgeryUniversity of Iowa Hospitals and ClinicsIowa CityUSA

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