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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
More Names
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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

  1. Lynch syndrome. Genetics Home Reference Web site. April 2008; Accessed 7/1/2011.
  2. Kohlmann W, Gruber S. Lynch syndrome. GeneReviews. September 20, 2012; Accessed 10/23/2012.