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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Lynch syndrome


Other Names for this Disease

  • COCA1
  • Colon cancer, familial nonpolyposis
  • Colorectal cancer, hereditary nonpolyposis
  • Familial nonpolyposis colon cancer
  • Hereditary nonpolyposis colorectal cancer
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Cause

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What causes Lynch syndrome?

Lynch syndrome is caused by mutations in at least 5 genes (MLH1, MSH2, MSH6, PMS2 or  EPCAM). All of these genes are involved in the repair of mistakes made when DNA is copied (DNA replication) in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors.[1][2]
Last updated: 10/23/2012

References
  1. Lynch syndrome. Genetics Home Reference Web site. April 2008; http://ghr.nlm.nih.gov/condition=lynchsyndrome. Accessed 7/1/2011.
  2. Kohlmann W, Gruber S. Lynch syndrome. GeneReviews. May 22, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1211/. Accessed 5/27/2014.


Other Names for this Disease
  • COCA1
  • Colon cancer, familial nonpolyposis
  • Colorectal cancer, hereditary nonpolyposis
  • Familial nonpolyposis colon cancer
  • Hereditary nonpolyposis colorectal cancer
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.