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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Lynch syndrome

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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.

Overview

Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. Individuals with Lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with Lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. Even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with Lynch syndrome may occasionally have colon polyps. Lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM gene.[1][2]
Last updated: 10/18/2013

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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Lynch syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Lynch syndrome. This website is maintained by the National Library of Medicine.
  • Lynch Syndrome International (LSI) provides Lynch syndrome information For Survivors and For Professionals. Click on For Survivors or For Professionals to visit the LSI Web site and view the information pages.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.  Click on the link to view information on this topic. 
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page 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.
  • 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. 
    Lynch syndrome type 1
    Lynch syndrome type 2
  • 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 Lynch syndrome. Click on the link to view a sample search on this topic.
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.