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

Hereditary diffuse gastric cancer


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Other Names:
HDGC; Gastric cancer, hereditary diffuse; Gastric cancer, familial diffuse; HDGC; Gastric cancer, hereditary diffuse; Gastric cancer, familial diffuse; Familial diffuse cancer of stomach; Familial diffuse gastric cancer; FDGC; Hereditary diffuse cancer of stomach; Hereditary diffuse gastric adenocarcinoma See More
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Hereditary diffuse gastric cancer (HDGC) is an inherited condition that is characterized by an increased risk of developing a specific form of stomach cancer called diffuse gastric cancer. Women with HDGC also have an increased risk for lobular breast cancer. Cancers associated with HDGC generally occur at younger ages than those seen in people who do not have a hereditary predisposition to cancer. HDGC is caused by changes (mutations) in the CDH1 gene and is inherited in an autosomal dominant manner. Management typically involves high-risk cancer screening and/or prophylactic surgeries.[1]   


Last updated: 3/17/2015

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
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Chronic atrophic gastritis 0002582
Stomach cancer 0012126
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Last updated: 7/1/2020

Hereditary diffuse gastric cancer is inherited in an autosomal dominant manner.[1] This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with hereditary diffuse gastric cancer has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Last updated: 3/17/2015

Yes, genetic testing is available for CDH1, the gene known to cause hereditary diffuse gastric cancer.[1] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Last updated: 3/17/2015

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics 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 Hereditary diffuse gastric cancer. 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.

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

Social Networking Websites

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

  • Cancer.net provides oncologist-approved cancer information from the American Society of Clinical Oncology and has information about Hereditary diffuse gastric cancer.
  • Genetics Home Reference (GHR) contains information on Hereditary diffuse gastric cancer. This website is maintained by the National Library of Medicine.

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.
  • 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) 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. 
  • 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 Hereditary diffuse gastric cancer. 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

  • My father passed away due to stomach cancer at the age of 35 when I was 8 years old. Now I am 32 and I am starting to wonder a little more about the type of cancer he had and how hereditary it is. I stumbled across HDGC on the Internet and panicked a bit, especially now that I am a parent. Due to his death being so long ago, medical records and pathology would no longer be available. There were no other stomach cancer cases in his side of the family that I'm aware of. However I am blood type A and I'm pretty sure that makes me more susceptible. I'd really appreciate some guidance on where to go from here! I've been very anxious about it recently. See answer



  1. Kaurah P & Huntsman DG. Hereditary Diffuse Gastric Cancer. GeneReviews. 2018; http://www.ncbi.nlm.nih.gov/books/NBK1139/.