National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Lynch syndrome

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Not a rare disease Not a rare disease
Other Names:
Colorectal cancer, hereditary nonpolyposis; Hereditary nonpolyposis colorectal cancer; HNPCC; Colorectal cancer, hereditary nonpolyposis; Hereditary nonpolyposis colorectal cancer; HNPCC; Familial nonpolyposis colon cancer; Colon cancer, familial nonpolyposis; COCA1; Lynch syndrome 1; Lynch syndrome 2 See More
Categories:
Lynch syndrome is a genetic disorder that causes an increased risk of developing certain types of cancer such as 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] Treatment of colon cancer is surgical removal of the affected part of the colon (colectomy). People with Lynch syndrome should have routine colonoscopies.[2]
Last updated: 4/13/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Colon cancer 0003003
Constipation 0002019
Fatigue
Tired
Tiredness
[ more ] 		0012378
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Glioblastoma multiforme 0012174
Malabsorption
Intestinal malabsorption
0002024
Weight loss 0001824
30%-79% of people have these symptoms
Anxiety
Excessive, persistent worry and fear
0000739
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] 		0007018
Death in early adulthood 0100613
Death in infancy
Infantile death
Lethal in infancy
[ more ] 		0001522
Depressivity
Depression
0000716
Hypertonia 0001276
Increased intracranial pressure
Rise in pressure inside skull
0002516
Irritability
Irritable
0000737
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] 		0002076
Muscular hypotonia
Low or weak muscle tone
0001252
Nausea and vomiting 0002017
Neoplasm of the rectum
Rectal tumor
0100743
Seizure 0001250
5%-29% of people have these symptoms
Abnormal pyramidal sign 0007256
Agnosia 0010524
Amaurosis fugax 0100576
Basal cell carcinoma 0002671
Benign neoplasm of the central nervous system 0100835
Cardiac diverticulum 0100571
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ] 		0002376
Dysarthria
Difficulty articulating speech
0001260
Dysgraphia 0010526
Dyskinesia
Disorder of involuntary muscle movements
0100660
Flexion contracture
Flexed joint that cannot be straightened
0001371
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Hallucinations
Hallucination
Sensory hallucination
[ more ] 		0000738
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Hepatocellular carcinoma 0001402
Intestinal polyposis 0200008
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] 		0002354
Neoplasm of the skeletal system
Skeletal tumor
0010622
Neoplasm of the thyroid gland 0100031
Neuroblastoma
Cancer of early nerve cells
0003006
Ovarian neoplasm
Ovarian tumor
0100615
Pancreatic adenocarcinoma 0006725
Paresthesia
Pins and needles feeling
Tingling
[ more ] 		0003401
Pituitary adenoma
Noncancerous tumor in pituitary gland
0002893
Urinary tract neoplasm 0010786
Visual field defect
Partial loss of field of vision
0001123
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Last updated: 7/1/2020
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: 4/13/2017
Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the mutated gene in each cell is sufficient to increase a person's 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.[1]
Last updated: 4/13/2017
The diagnosis of Lynch syndrome can be made on the basis of the Amsterdam Clinical Criteria or on the basis of molecular genetic testing for germline mutations in one of several mismatch repair (MMR) genes.[2]

To read detailed diagnostic strategies, please visit the following link from GeneReviews: http://www.ncbi.nlm.nih.gov/books/NBK1211/#hnpcc.Diagnosis
Last updated: 4/13/2017

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Lynch syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Lynch Syndrome International (LSI) Web site lists Lynch syndrome clinical trials and patient registries. Click on the link above to view the list.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Lynch syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Lynch syndrome:
    HEROIC Registry, Hereditary Cancer Research Champions
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Lynch syndrome in a table called Phenotypic Series. Each entry in OMIM includes 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 Lynch syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have an MLH1 mutation and therefore have Lynch Syndrome. I keep reading about Lynch Syndrome I (LSI) and Lynch Syndrome II (LSII). Are these distinctions still used? See answer

  • What is the name of the blood test used to diagnose Lynch syndrome? See answer


  1. Lynch syndrome. Genetics Home Reference Web site. April 11, 2017; http://ghr.nlm.nih.gov/condition=lynchsyndrome.
  2. Kohlmann W & Gruber S. Lynch syndrome. GeneReviews. May 22, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1211/.