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Lynch syndrome

Reviewed April 2008

What is Lynch syndrome?

Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is a type of inherited cancer of the digestive tract, particularly the colon (large intestine) and rectum. People with Lynch syndrome have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with this disorder also have a high risk of cancer of the endometrium (lining of the uterus) and ovaries. 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. In individuals with this disorder, colon polyps occur at an earlier age than in the general population. Although the polyps do not occur in greater numbers than in the general population, they are more likely to become cancerous.

How common is Lynch syndrome?

In the United States, about 160,000 new cases of colorectal cancer are diagnosed each year. Approximately 2 percent to 7 percent of these cancers are caused by Lynch syndrome.

What genes are related to Lynch syndrome?

Variations in the MLH1, MSH2, MSH6, and PMS2 genes increase the risk of developing Lynch syndrome. 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.

How do people inherit Lynch syndrome?

Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.

Where can I find information about treatment for Lynch syndrome?

You may find information on treatment or management of Lynch syndrome or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about Lynch syndrome?

You may find the following resources about Lynch syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    • Encyclopedia: Colon Cancer (http://www.nlm.nih.gov/medlineplus/ency/article/000262.htm)
    • Health Topic: Cancer--Living with Cancer (http://www.nlm.nih.gov/medlineplus/cancerlivingwithcancer.html)
    • Health Topic: Colorectal Cancer (http://www.nlm.nih.gov/medlineplus/colorectalcancer.html)
  • Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&DiseaseID=1445)
  • Additional NIH Resources - National Institutes of Health
    • National Cancer Institute: Colon and Rectal Cancer (http://www.cancer.gov/cancertopics/types/colon-and-rectal)
    • National Cancer Institute: Genetics of Colorectal Cancer (http://www.cancer.gov/cancertopics/pdq/genetics/colorectal/HealthProfessional/page2)
    • National Human Genome Research Institute: Learning About Colon Cancer (http://www.genome.gov/10000466)
    • NIH Senior Health: Colorectal Cancer (http://nihseniorhealth.gov/colorectalcancer/toc.html)
  • Educational resources - Information pages
    • Agency for Healthcare Research and Quality (http://www.ahrq.gov/clinic/tp/hnpcctp.htm)
    • American Cancer Society: Colon and Rectum Cancer (http://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_Is_Colon_and_Rectum_Cancer.asp?rnav=cri)
    • CDC: Colorectal (Colon) Cancer (http://www.cdc.gov/cancer/colorectal/)
    • Cleveland Clinic (http://www.clevelandclinic.org/registries/inherited/hnpcc.htm)
    • Genetic Science Learning Center, University of Utah (http://learn.genetics.utah.edu/content/disorders/whataregd/colon/index.html)
    • Mayo Clinic (http://www.mayoclinic.org/hnp-colon-cancer/index.html)
    • New York Online Access to Health: Colon, Rectal and Anal Cancer (http://www.noah-health.org/en/cancer/types/colon/)
    • Orphanet (http://www.orpha.net//consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=144)
    • Stanford Cancer Center (http://cancer.stanford.edu/information/geneticsAndCancer/types/hpncc.html)
    • Wellcome Trust (http://genome.wellcome.ac.uk/doc_WTD023623.html)
  • Patient support - For patients and families
    • Colon Cancer Alliance (http://www.ccalliance.org/)
    • Colorectal Cancer Coalition (http://fightcolorectalcancer.org)
    • Genetic Alliance (http://www.geneticalliance.org/ws_display.asp?filter=infosearch_results&info_keyword=Non-Polyposis+Colorectal+Cancer&expand=Treatment)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hnpcc)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=2622)
  • Genetic Tools - Teaching cases (http://www.genetests.org/servlet/access?fcn=y&filename=/tools/cases/colorectal-9/)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22hereditary+nonpolyposis+colorectal+cancer%22+OR+%22colorectal+neoplasms%2C+hereditary+nonpolyposis%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(lynch+syndrome[TIAB])+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=720+Days)
  • OMIM - Genetic disorder catalog
    • OMIM: Colorectal Cancer (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114500)
    • OMIM: Hereditary Nonpolyposis Colorectal Cancer (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120435)

What other names do people use for Lynch syndrome?

  • Cancer Family Syndrome
  • COCA 1
  • Familial nonpolyposis colon cancer
  • Hereditary nonpolyposis colorectal cancer
  • Hereditary Nonpolyposis Colorectal Neoplasms
  • HNPCC
  • Lynch Syndrome I
  • Lynch Syndrome II

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Lynch syndrome?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding Lynch syndrome?

autosomal ; autosomal dominant ; benign ; cancer ; cell ; cell division ; colon ; colon polyp ; colorectal ; digestive ; DNA ; DNA replication ; duct ; endometrium ; familial ; gallbladder ; gene ; intestine ; mutation ; neoplasms ; ovary ; polyp ; population ; prostate ; rectum ; stomach ; syndrome ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Annie Yu HJ, Lin KM, Ota DM, Lynch HT. Hereditary nonpolyposis colorectal cancer: preventive management. Cancer Treat Rev. 2003 Dec;29(6):461-70. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14585257)
  • Bandipalliam P. Syndrome of Early Onset Colon Cancers, Hematologic Malignancies & Features of Neurofibromatosis in HNPCC Families with Homozygous Mismatch Repair Gene Mutations. Fam Cancer. 2005;4(4):323-33. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16341812)
  • Chung DC, Rustgi AK. The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. Ann Intern Med. 2003 Apr 1;138(7):560-70. Review. Summary for patients in: Ann Intern Med. 2003 Apr 1;138(7):I53. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12667026)
  • Gene Review: Hereditary Non-Polyposis Colon Cancer (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hnpcc)
  • Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I, de la Chapelle A. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005 May 5;352(18):1851-60. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15872200)
  • Lagerstedt Robinson K, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, Papadopoulos N, Kinzler KW, Vogelstein B, Peltomäki P, Kolodner RD, Nilbert M, Lindblom A. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst. 2007 Feb 21;99(4):291-9. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=17312306)
  • Lucci-Cordisco E, Zito I, Gensini F, Genuardi M. Hereditary nonpolyposis colorectal cancer and related conditions. Am J Med Genet. 2003 Nov 1;122A(4):325-34. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14518071)
  • Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet. 1999 Nov;36(11):801-18. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10544223)
  • Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003 Mar 6;348(10):919-32. Review. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12621137)
  • Lynch HT, Lynch JF. What the physician needs to know about Lynch syndrome: an update. Oncology (Williston Park). 2005 Apr;19(4):455-63; discussion 463-4, 466, 469. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15938070)
  • Peltomaki P. Lynch syndrome genes. Fam Cancer. 2005;4(3):227-32. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16136382)
  • Rowley PT. Inherited susceptibility to colorectal cancer. Annu Rev Med. 2005;56:539-54. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15660526)
  • Soravia C, van der Klift H, Brundler MA, Blouin JL, Wijnen J, Hutter P, Fodde R, Delozier-Blanchet C. Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum. Am J Med Genet. 2003 Aug 30;121A(2):159-62. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12910497)
  • Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004 Feb 18;96(4):261-8. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14970275)
  • Watson P, Lynch HT. Cancer risk in mismatch repair gene mutation carriers. Fam Cancer. 2001;1(1):57-60. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14574017)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2008
Published: May 11, 2009