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Hereditary diffuse gastric cancer (HDGC) is a rare, serious genetic condition that increases the risk of developing stomach cancer. Despite its name, HDGC is a condition rather than a type of cancer itself. It¡¯s caused by an inherited gene mutation and greatly increases the chances of developing diffuse gastric cancer.

Unlike other forms of stomach cancer, diffuse gastric cancer spreads in a way that makes it difficult to detect. It often goes unnoticed until it reaches an advanced stage since the disease often doesn¡¯t have symptoms in its earliest stages. Unlike intestinal-type gastric cancers, HDGC doesn¡¯t usually form a distinct mass, but instead infiltrates the stomach lining diffusely.

To better understand how HDGC develops, how it¡¯s diagnosed, how it¡¯s treated and how you can manage your risk, we spoke with surgical oncologist Here¡¯s what he wants families to know.

How is HDGC-linked diffuse gastric cancer different from other forms of stomach cancer?

HDGC is caused by a mutation in genes that can be passed down in families. It¡¯s characterized by microscopic cancerous cells that grow in the stomach lining.

Non-hereditary stomach cancer is usually linked to environmental factors such as diet or a history of infections like H. pylori.

HDGC spreads differently, too. In people with HDGC, cancer cells spread diffusely. This means they scatter in an unorganized way rather than forming a solid tumor. That¡¯s why this type of cancer can be difficult to detect with imaging or tests.

What are some genetic mutations associated with hereditary stomach cancer?

The CDH1 gene mutation is the most common cause of HDGC. This gene makes E-cadherin, a protein that helps cells stick together. When CDH1 is mutated, cells lose their ability to stick together properly, allowing cancerous cells to spread more easily.

People with a CDH1 mutation also have a higher risk of lobular breast cancer and sometimes cleft lip or cleft palate. It may also be linked to cases of osteopenia in some patients.

Another gene mutation called CTNNA1 can also cause HDGC, but it¡¯s much rarer.

How can I manage my risk of HDGC and hereditary stomach cancer?

Because HDGC is passed down through families and less than 3% of all gastric cancers are hereditary, the best way to understand your risk is by knowing your family history. Genetic testing is recommended if you:

• have a family history of HDGC,
• were diagnosed with stomach cancer before age 50,
• have multiple family members who were diagnosed with stomach cancer before age 50,
• have a family history of lobular breast cancer, and/or
• have a family history of cleft lip or cleft palate and stomach cancer, which can both be linked to the CDH1 mutation.

After you complete genetic testing, you¡¯ll meet with a genetic counselor to discuss your and your family members¡¯ risks and screening options.

What are the most common HDGC symptoms?

Hereditary diffuse gastric cancer doesn¡¯t usually have symptoms in its earliest stages. That¡¯s why genetic testing is so important.

When the disease is caught later, symptoms might include abdominal pain, weight loss, or nausea and vomiting.

How is HDGC treated?

Doctors used to think that people with CDH1 gene mutations had over a 70% chance of getting stomach cancer. More recent studies show the risk is lower for most families, but it¡¯s still much higher than normal and depends a lot on family history.

 So, preventive surgery to remove the stomach is the most effective treatment option for those with the mutation. This surgery is called a prophylactic total gastrectomy.

Some people with the CDH1 mutation opt for regular monitoring instead of immediate surgery. Regular monitoring might include an endoscopy, where doctors use a long camera to see the esophagus and gastrointestinal tract, or biopsies of the stomach and surrounding organs.

Chemotherapy and radiation therapy are typically not effective options for early-stage HDGC-linked diffuse gastric cancer.

What is a patient¡¯s risk of cancer after HDGC treatment?

Removing the stomach practically eliminates the risk of diffuse gastric cancer returning. However, people with a CDH1 mutation may still have an elevated risk of lobular breast cancer. Even after preventive stomach removal, you will need to see your doctor regularly to monitor your overall health.

HGDC is a serious condition, but with genetic testing, preventive surgery and regular medical care, you can take charge of your health. While surgery can be a big change, most patients go on to live full and happy lives after a stomach removal.

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