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Basic Sciences and Genetics: Hamartomatous Polyposis

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Hereditary Colorectal Cancer

Part of the book series: M.D. Anderson Solid Tumor Oncology Series ((MDA,volume 5))

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Abstract

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.

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Authors and Affiliations

  1. Surgical Oncology and Endocrine Surgery, Roy J. and Lucille A. Carver, University of Iowa College of Medicine, Iowa City, IA, 52242-1086, USA

    James R. Howe

  2. Department of Surgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242-1086, USA

    James R. Howe

Authors
  1. James R. Howe
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  2. Daniel Calva
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Corresponding author

Correspondence to James R. Howe .

Editor information

Editors and Affiliations

  1. M.D. Anderson Cancer Center, Surgical Oncology, The University of Texas, Holcombe Blvd. 1515, Houston, 77030, Texas, USA

    Miguel A. Rodriguez-Bigas

  2. Associate Professor of Surgery, Brazilian Registry of Inherited, Colorec, University of São Paulo Medical School, Sao Paulo, Brazil

    Raul Cutait

  3. M.D. Anderson Cancer Center, Gastroenterology, The University of Texas, Houston, 77030, Texas, USA

    Patrick M. Lynch

  4. Cancer Research UK London Research Insti, Molecular and Population Genetics Labora, London, United Kingdom

    Ian Tomlinson

  5. Medical Center, Gastroenterology, Leiden University, Leiden, 2333 AA, Netherlands

    Hans F.A. Vasen

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Howe, J.R., Calva, D. (2010). Basic Sciences and Genetics: Hamartomatous Polyposis. In: Rodriguez-Bigas, M., Cutait, R., Lynch, P., Tomlinson, I., Vasen, H. (eds) Hereditary Colorectal Cancer. M.D. Anderson Solid Tumor Oncology Series, vol 5. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-6603-2_5

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  • DOI: https://doi.org/10.1007/978-1-4419-6603-2_5

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