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Attenuated familial adenomatous polyposis


Other Names for this Disease
  • AAPC
  • AFAP
  • Attenuated adenomatous polyposis coli
  • Attenuated familial polyposis coli
  • Attenuated FAP
More Names
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Overview


Attenuated familial adenomatous polyposis (AFAP) is a cancer predisposition syndrome characterized by a significant risk to develop colon cancer. Individuals with AFAP generally have fewer colon polyps (an average of 30) than in classic FAP, and the polyps tend to occur more proximally in the colon. The average age of colon cancer diagnosis in affected individuals is 50 to 55 years, which is 10 to 15 years later than in those with classic FAP, but earlier than when colon cancer occurs in the general population. In addition to colon polyps, findings may include upper gastrointestinal polyps and cancers; non-intestine related signs of FAP (but CHRPE and desmoid tumors are rare); and thyroid cancer. AFAP is caused by mutations in the APC gene and is inherited in an autosomal dominant manner.[1]
Last updated: 12/16/2011

References

  1. Jasperson KW, Burt RW. APC-Associated Polyposis Conditions. GeneReviews. October 27, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1345/. Accessed 2/17/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Attenuated familial adenomatous polyposis. This website is maintained by the National Library of Medicine.
  • 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.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Attenuated familial adenomatous polyposis. Click on the link to view a sample search on this topic.