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Familial Colon Cancer Syndromes: an Update of a Rapidly Evolving Field

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Abstract

Colorectal cancer (CRC) is a major cause of morbidity and mortality in the world. Up to 30 % of CRCs have evidence of a familial component, and about 5 % are thought to be due to well-characterized inherited mutations. This review will focus on recent developments in the understanding of the individual hereditary CRC syndromes, including Lynch syndrome, familial CRC type X, familial adenomatous polyposis, MutYH-associated polyposis, Peutz–Jeghers syndrome, juvenile polyposis syndrome, PTEN hamartomatous syndrome, and serrated polyposis syndrome. Advances within the area of hereditary colon cancer syndromes paint a picture of a rapidly moving, rapidly maturing, and increasingly collaborative field with many opportunities for ongoing research and development.

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Disclosure

Dr. D. Ahnen has served as a board member for Exact Sciences, Inc, a Consultant for SLA Pharma and CM&D Pharma. He has received grant support for his polyp prevention work and has received royalties from UpToDate. Dr. S. Patel reported no potential conflicts of interest.

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  1. University of Colorado School of Medicine, 12631 East 17th Avenue, B-158, Aurora, CO, 80045, USA

    Swati G. Patel

  2. Denver Department of Veterans Affairs Medical Center, University of Colorado School of Medicine, 1055 Clermont St, Denver, CO, 80220, USA

    Dennis J. Ahnen

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Patel, S.G., Ahnen, D.J. Familial Colon Cancer Syndromes: an Update of a Rapidly Evolving Field. Curr Gastroenterol Rep 14, 428–438 (2012). https://doi.org/10.1007/s11894-012-0280-6

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