Overview
Hereditary diffuse gastric cancer (HDGC) is a rare inherited condition that greatly increases a person's risk of developing a specific type of stomach cancer called diffuse gastric cancer. Unlike other stomach cancers that form a lump or tumor you can see on a scan, diffuse gastric cancer spreads through the stomach wall in a scattered pattern, making it very hard to detect early. People with HDGC also have a higher risk of a type of breast cancer called lobular breast cancer, and some may develop a bowel condition called colorectal cancer. HDGC is caused by changes (mutations) in a gene called CDH1, and less commonly in the CTNNA1 gene. These gene changes are passed down through families, meaning if one parent carries the mutation, each child has a 50% chance of inheriting it. The condition is also sometimes called CDH1-related hereditary diffuse gastric cancer syndrome. Because the cancer is so hard to detect early, many doctors recommend that people who carry the CDH1 gene change consider having their stomach removed before cancer develops. This is a major decision, and specialist guidance is essential. With careful monitoring and preventive surgery, outcomes can be significantly improved. Research into better screening tools and treatments is ongoing.
Also known as:
Key symptoms:
Difficulty swallowing or a feeling that food is getting stuckUnexplained weight lossStomach pain or discomfortFeeling full very quickly when eatingNausea or vomitingLoss of appetiteHeartburn or indigestion that does not go awayFatigue and low energyA lump or thickening in the breast (in women with lobular breast cancer risk)Bloating after meals
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
1 availableHerceptin
Herceptin is indicated in adults, in combination with cisplatin and capecitabine or 5-fluorouracil, for the treatment of patients with HER2-overexpressing metastatic gastric or gastroesophageal juncti…
Herceptin is indicated in adults, in combination with cisplatin and capecitabine or 5-fluorouracil, for the treatment of patients with HER2-overexpressing metastatic gastric or gastroesophageal junction adenocarcinoma who have not received prior treatment for metastatic disease
Clinical Trials
View all trials with filters →No actively recruiting trials found for Hereditary diffuse gastric cancer at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Hereditary diffuse gastric cancer.
Community
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Start the conversation →Latest news about Hereditary diffuse gastric cancer
1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Should I have genetic testing for CDH1 and CTNNA1, and what does a positive result mean for me and my family?,At what age should I consider having my stomach removed, and what are the risks and benefits?,If I choose not to have surgery yet, how often should I have endoscopy and how reliable is it at finding early cancer?,What breast cancer screening do I need, and should I consider preventive options for my breast cancer risk?,Which of my family members should also be tested, and how do I talk to them about this?,What nutritional support will I need if I have my stomach removed, and what should I expect for my quality of life?,Are there any clinical trials I should know about for HDGC prevention or treatment?
Common questions about Hereditary diffuse gastric cancer
What is Hereditary diffuse gastric cancer?
Hereditary diffuse gastric cancer (HDGC) is a rare inherited condition that greatly increases a person's risk of developing a specific type of stomach cancer called diffuse gastric cancer. Unlike other stomach cancers that form a lump or tumor you can see on a scan, diffuse gastric cancer spreads through the stomach wall in a scattered pattern, making it very hard to detect early. People with HDGC also have a higher risk of a type of breast cancer called lobular breast cancer, and some may develop a bowel condition called colorectal cancer. HDGC is caused by changes (mutations) in a gene call
How is Hereditary diffuse gastric cancer inherited?
Hereditary diffuse gastric cancer follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hereditary diffuse gastric cancer typically begin?
Typical onset of Hereditary diffuse gastric cancer is adult. Age of onset can vary across affected individuals.
Which specialists treat Hereditary diffuse gastric cancer?
25 specialists and care centers treating Hereditary diffuse gastric cancer are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.