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

Categories:

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

Summary Summary

Hereditary diffuse gastric cancer (HDGC) leads to an increased risk (predisposition) 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 earlier ages than those seen in people who do not have a hereditary predisposition to cancer. HDGC is caused by genetic variants in the CDH1 gene and the CTNNA1 gene. It is inherited in an autosomal dominant pattern. Diagnosis of HDGC is based on the symptoms, family history, and may be confirmed by the results of genetic testing. Treatment is focused on reducing the risk to develop cancer and includes increased screening for gastric cancer (endoscopy) and breast cancer in women (mammography). In some cases, surgery is done to remove the stomach before cancer develops (prophylactic surgery).^[1]^[2]^[3]

Last updated: 12/9/2020

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with hereditary diffuse gastric cancer (HDGC). These features may be different from person to person. Some people may have more symptoms than others, and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Signs and symptoms may include:^[1]^[3]

Personal history of diffuse gastric cancer
Family history of diffuse gastric cancer
Personal or family history of cleft lip/palate and diffuse gastric cancer
Personal or family history of lobular breast cancer

People with HDGC have an increased risk of developing gastric cancer compared to people without HDGC. The average age at diagnosis is in the late 30s or early 40s. Symptoms of gastric cancer can be difficult to recognize until it's in the advanced stages. These may include abdominal pain, nausea, and loss of appetite.^[1]

Last updated: 12/9/2020

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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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2021

Cause Cause

Hereditary diffuse gastric cancer (HDGC) occurs when the CDH1 or the CTNNA1 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.^[2]^[3]

Last updated: 12/9/2020

Inheritance Inheritance

Hereditary diffuse gastric cancer (HDGC) is inherited in an autosomal dominant pattern.^[1] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one pathogenic variant on one copy of a gene is necessary to have the condition. The variant can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic variant (de novo), and there is no history of this condition in the family.

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the variant and the condition. Typically, children who inherit a dominant variant will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene variant for an autosomal dominant condition and show no signs or symptoms of the condition. Not everyone who inherits a pathogenic variant associated with HDGC will develop cancer.

Last updated: 12/9/2020

Diagnosis Diagnosis

Diagnosis of hereditary diffuse gastric cancer (HDGC) is based on the symptoms, the family history, and the features of the cancer cells when viewed under the microscope. The diagnosis may be confirmed by the results of genetic testing.^[1]^[3]

Last updated: 12/9/2020

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.

Treatment Treatment

Treatment for hereditary diffuse gastric cancer (HDGC) is focused on frequent screening for gastric and breast cancer. Screening involves imaging studies such as endoscopy and mammography. In some cases, surgery is done to remove the stomach before cancer develops (prophylactic surgery).^[2]^[3]

Specialists involved in the care of someone with HDGC may include:

Oncologist
Medical geneticist
Gastroenterologist
Surgeon
Nutritionist

Last updated: 12/9/2020

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.

ramucirumab (Brand name: Cyramza) - Manufactured by Eli Lilly and Company
FDA-approved indication: Treatment of advanced gastric or gastro-esophageal junction adenocarcinoma, as a single agent or in combination with paclitaxel, after prior fluoropyrimidine- or platinium-containing chemotherapy.
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Statistics Statistics

It has been estimated that between 1 and 3% of people with gastric cancer have a CDH1 genetic variant.^[1] The exact number of people with hereditary diffuse gastric cancer is unknown.

Last updated: 12/9/2020

Do you have updated information on this disease? We want to hear from you.

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 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.

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

No Stomach For Cancer
PO Box 46070
Madison, WI 53744
Toll-free: 1-855-355-0241
Telephone: +1-608-692-5141
E-mail: info@nostomachforcancer.org
Website: https://www.nostomachforcancer.org/

Social Networking Websites

Visit the CDH1 mutation gene group on Facebook.

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

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

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.

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

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

Have a question? Contact a GARD Information Specialist.

References References

Kaurah P, Huntsman DG. Hereditary Diffuse Gastric Cancer. GeneReviews. Updated Mar, 2018; http://www.ncbi.nlm.nih.gov/books/NBK1139/.
van der Post RS, Oliveira C, Guilford P, Carneiro F. Hereditary gastric cancer: what's new? Update 2013-2018. Fam Cancer. Jul 2019; 18(3):363-367. https://pubmed.ncbi.nlm.nih.gov/30989426/.
Blair VR, McLeod M, Carneiro F, Coit DG, D'Addario JL, van Dieren JM, et al. Hereditary diffuse gastric cancer: updated clinical practice guidelines. Lancet Oncol. Aug 2020; 21(8):e386-e397.. https://pubmed.ncbi.nlm.nih.gov/32758476/.
Shenoy S.. CDH1 (E-Cadherin) Mutation and Gastric Cancer: Genetics, Molecular Mechanisms and Guidelines for Management.. Cancer Manag Res. Dec 13, 2019; 11:10477-10486. https://pubmed.ncbi.nlm.nih.gov/31853199/.