Current Gastroenterology Reports

, Volume 14, Issue 5, pp 428–438

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

Large Intestine (B Cash, Section Editor)


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.


Hereditary colon cancer Lynch syndrome EPCAM Familial colorectal cancer type X Familial adenomatous polypsis MutYH Peutz–Jegher syndrome Juvenile polyposis syndrome PTEN hamartomatous syndrome Serrated polyposis syndrome 


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.University of Colorado School of MedicineAuroraUSA
  2. 2.Denver Department of Veterans Affairs Medical CenterUniversity of Colorado School of MedicineDenverUSA

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