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MUTYH-Associated Polyposis

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Intestinal Polyposis Syndromes

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Abstract

MUTYH-associated polyposis (MAP) is an autosomal recessive predisposition to colorectal cancer (CRC) and intestinal polyposis, representing less than 1 % of CRC cases. This condition is characterized by the development of between 10 and 100 colorectal polyps and presents diagnostic challenges due to its phenotypic overlap with other hereditary CRC syndromes, including Lynch syndrome and attenuated familial adenomatous polyposis. This chapter provides a detailed description of MAP, including its clinical characteristics and molecular genetics, as well as implications for affected patients and families including inheritance, genetic testing, surveillance, and preventive recommendations. A proposed algorithm for MUTYH genetic testing is also provided for this important, but rare, hereditary predisposition to CRC.

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Author information

Authors and Affiliations

  1. Clinical Cancer Genetics Program, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX, 77030, USA

    Maureen E. Mork

  2. Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX, 77030, USA

    Eduardo Vilar M.D., Ph.D.

  3. Department of Gastrointestinal Medical Oncology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX, 77030, USA

    Eduardo Vilar M.D., Ph.D.

Authors
  1. Maureen E. Mork
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  2. Eduardo Vilar M.D., Ph.D.
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Correspondence to Eduardo Vilar M.D., Ph.D. .

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Editors and Affiliations

  1. Division of Gastroenterology, Mayo Clinic, Rochester, Minnesota, USA

    Lisa A. Boardman

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© 2016 Springer International Publishing Switzerland

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Mork, M.E., Vilar, E. (2016). MUTYH-Associated Polyposis. In: Boardman, L. (eds) Intestinal Polyposis Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-28103-2_2

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  • DOI: https://doi.org/10.1007/978-3-319-28103-2_2

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-28101-8

  • Online ISBN: 978-3-319-28103-2

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