Hereditary Diffuse Gastric Cancer Clinic

Hereditary diffuse gastric cancer (HDGC), sometimes called familial diffuse gastric cancer, is a rare type of stomach cancer that occurs because of genetic mutations. Most often, the genetic mutation that causes HDGC is on the CDH1 gene, but sometimes it is on the CTNNA1 gene. These mutations are commonly passed down in families, which is why it is called a hereditary cancer. Sometimes, though, a mutation on CTNNA1 can happen for no known reason. 

This type of stomach cancer doesn't form a tumor like most stomach cancers. Instead, the cancer cells spread within the stomach lining in a diffuse manner, which can make it more difficult to detect.

In addition to an increased risk of developing HDGC, women with these gene mutations also have an increased risk of a specific type of breast cancer called lobular breast cancer.

Because of the higher risk of cancer, people with these genetic mutations should be monitored carefully by HDGC specialists who can help to navigate their treatment options.

At MUSC Hollings Cancer Center, our Hereditary Diffuse Gastric Cancer Clinic, part of our Hereditary Cancer Clinic, brings together experts in gastroenterology, surgical oncology, genetic testing, nutrition and behavioral health to help you manage your unique health care needs. 

Hereditary diffuse gastric cancer symptoms

People often don't experience any symptoms when hereditary diffuse gastric cancer is still in early stages. When symptoms do occur, they may include:

• Unexplained weight loss

• Persistent abdominal pain

• Nausea and vomiting

• Difficulty swallowing

• Feeling full quickly after small meals

Hereditary diffuse gastric cancer risk factors

• Individuals with a family history of diffuse gastric cancer, especially those with early-onset cases or multiple family members affected, are at higher risk.

• Patients with a family history of lobular breast cancer may be at increased risk.

• A child of an affected parent has a 50% chance of inheriting the mutation.

If you or your doctor think you could have HDGC, a visit with our genetics professionals should be promptly scheduled. Our certified genetic counselors are here to help you to understand your risk and potential implications from your test results. 

Genetic tests are done using saliva samples. No blood tests are required to test for these gene mutations.

Managing HDGC

If your genetic test shows that you have a genetic mutation that could lead to HDGC, the first step is usually an upper endoscopy to look for early signs of cancer. During this procedure, you are sedated by an anesthesiologist, and a gastroenterology specialist inserts a thin tube with a camera into your mouth and down your throat in order to view the stomach. Several biopsies will be performed to sample the tissue of the stomach lining.

After the test, you and your doctor will talk about the findings and how you want to proceed. There are two main options: 

• Total prophylactic gastrectomy

  This means completely removing the stomach before cancer is found. Because people with one of these genetic mutations have a high chance of developing this aggressive cancer that's hard to find, removing the stomach also removes the high probability of cancer developing. It is possible to live without a stomach, but not necessarily easy, so doctors no longer recommend this option for every patient with HDGC. Instead, it is recommended on a case-by-case basis.

The choice should be made carefully in consultation with a team of specialists, while weighing the benefit of preventing stomach cancer. If chosen, this surgery should be done only at hospitals with experienced surgeons, such as the team at MUSC Hollings Cancer Center. 

• Endoscopic surveillance

  This choice involves frequent upper endoscopies, typically once per year, to look for signs of cancer. This will mean numerous biopsies each time and appropriate management based on those results. This approach has less risk of side effects but requires detailed discussion to understand the risks of developing gastric cancer while undergoing surveillance endoscopy.

For women, regardless of which option you choose, you should also undergo regular breast cancer surveillance because of the increased risk of lobular breast cancer. Our specialists will guide you in deciding on the best schedule. 

Life after gastrectomy

Life after a prophylactic gastrectomy can be challenging, but patients can adjust to the changes in digestion and lifestyle with the right support. For those managed by this procedure, a team of dietitians, surgeons, and counselors can help patients manage the long-term effects, including nutritional deficiencies and changes in eating habits.

Meet the HDGC team

Genetic counseling

The genetic counselors at the Hollings Hereditary Cancer Clinic are an integral part of the hereditary diffuse gastric cancer team. They can help you to understand your risk and can also help your family members to get genetic testing to understand their risks. 

Gastroenterology and endoscopy

 

Brenda Hoffman, M.D.

 

David H. Kruchko, D.O.

High-risk breast cancer

 

Kevin Hughes, M.D.

 

Jen Diaz, ANP-C

Surgical oncology

 

Kevin Roggin, M.D.