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Diseases

Genetic and Rare Diseases Information Center (GARD)

Turcot syndrome


Other Names for this Disease
  • Malignant tumors of the central nervous system associated with familial polyposis of the colon
  • CNS tumors with Familial polyposis of the colon
  • Mismatch Repair Cancer Syndrome
  • MMRCS
  • Mismatch Repair Deficiency
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Overview

Turcot syndrome is a condition characterized by multiple adenomatous colon polyps, an increased risk of colorectal cancer, and an increased risk of brain cancer. It may be associated with familial adenomatous polyposis (FAP) or Lynch syndrome (also known as hereditary non-polyposis colorectal cancer or HNPCC). The molecular basis of most Turcot syndrome is either a mutation in APC associated with FAP or a mutation in one of the mismatch repair genes associated with Lynch syndrome (MLH1 and PMS2). The brain tumors in individuals with APC mutations are typically medulloblastoma, whereas those with mismatch repair mutations are usually glioblastoma multiforme.[1][2] Turcot syndrome typically follows an autosomal dominant inheritance pattern.[1]
Last updated: 8/29/2012

References

  1. Turcot Syndrome. Cancer.Net. 2011; http://www.cancer.net/cancer-types/turcot-syndrome. Accessed 8/28/2012.
  2. Jasperson KW, Burt RW. APC-Associated Polyposis Conditions. GeneReviews. March 27, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1345/. Accessed 6/23/2014.
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Basic Information

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • The American Society of Clinical Oncology provides oncologist-approved information on cancer-related topics. Click on the link to view information about Turcot syndrome. 

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Turcot syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Malignant tumors of the central nervous system associated with familial polyposis of the colon
  • CNS tumors with Familial polyposis of the colon
  • Mismatch Repair Cancer Syndrome
  • MMRCS
  • Mismatch Repair Deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.