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Genetic and Rare Diseases Information Center (GARD)

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Turcot syndrome


Other Names for this Disease
  • Brain tumor-polyposis syndrome
  • CNS tumors with Familial polyposis of the colon
  • Glioma-polyposis syndrome
  • Malignant tumors of the central nervous system associated with familial polyposis of the colon
  • Mismatch Repair Cancer Syndrome
More Names
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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. 2011; http://www.ncbi.nlm.nih.gov/books/NBK1345/. Accessed 8/28/2012.
Your Questions Answered
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • 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 Online Mendelian Inheritance in Man (OMIM) is an 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.