Lynch syndrome

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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:

Congenital and Genetic Diseases; Digestive Diseases; Female Reproductive Diseases; Congenital and Genetic Diseases; Digestive Diseases; Female Reproductive Diseases; Hereditary Cancer Syndromes; Rare Cancers See More

Summary Summary

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

Symptoms Symptoms

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: 1/1/2021

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Cause Cause

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

Inheritance Inheritance

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

Diagnosis Diagnosis

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.

Treatment Treatment

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.

Management Guidelines

The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative, launched by the CDC National Office of Public Health Genomics developed an evidence report for Lynch syndrome entitled, Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives.

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.

Leucovorin (Brand name: Leucovorin calcium®) - Manufactured by Bedford Laboratories
FDA-approved indication: For use in combination with 5-fluorouracil to prolong survival in the palliative treatment of patients with advanced colorectal cancer.
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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

Organizations Organizations

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

AliveAndKickn
PO Box 38
Haworth, NJ 07641
Website: http://aliveandkickn.org/
AMC Cancer Research Center
3401 Quebec St, Suite 3200
Denver, CO 80207
Toll-free: 800-321-1557
Telephone: 303-233-6501
Fax: 303-239-3400
E-mail: contactus@amc.org
Website: http://www.amc.org/
CCARE Lynch Syndrome
127 W. Oak
Unit C
Chicago, IL 60610
Telephone: 312-725-9769
Fax: 847-267-0746
E-mail: sjperlman@fightlynch.org
Website: http://www.fightlynch.org/
Colon Cancer Alliance
1025 Vermont Ave, NW
Suite 1066
Washington, DC 20005
Toll-free: (877) 422-2030 (Helpline)
Telephone: +1-202-628-0123 (Office)
Website: https://www.ccalliance.org/
Fight Colorectal Cancer
134 West Park Central Square
Suite 210
Springfield, MO 65806
Toll-free: 1-877-427-1211 (Helpline)
Telephone: +1-703-548-1225 (Office)
E-mail: Info@FightCRC.org
Website: https://fightcolorectalcancer.org/
Lynch Syndrome International (LSI)
P.O. Box 19
Madison, CT 06443
E-mail: info@lynchcancers.com
Website: https://lynchcancers.com/
If you would like someone to call you from LSI, please email the Executive Director (susanmcdevitt.lsi@gmail.com) or a leave a message in the Facebook messaging section.

Organizations Providing General Support

American Cancer Society
250 Williams Street NW
Atlanta, GA 30329
Toll-free: 1-800-227-2345
Website: https://www.cancer.org
Cancer Hope Network
2 North Road, Suite A
Chester, NJ 07930
Toll-free: 1-877-467-3638 (1-877-HOPENET)
Telephone: +1-908-879-4039
Fax: +1-908-879-6518
E-mail: info@cancerhopenetwork.org/
Website: https://www.cancerhopenetwork.org/
Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC)
E-mail: https://www.cgaigc.com/contact
Website: http://www.cgaigc.com
Hereditary Colon Cancer Foundation
3519 NE 15th Avenue
Unit 518
Portland, OR 97212
Telephone: +1-334-740-8657
E-mail: info@HCCTakesGuts.org
Website: https://www.hcctakesguts.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

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

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.
Genetics Home Reference (GHR) contains information on Lynch syndrome. This website is maintained by the National Library of Medicine.
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.

GARD Answers GARD Answers

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

Have a question? Contact a GARD Information Specialist.

References References

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

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