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CDH1 Mutation and Stomach Cancer Risk

Female doctor talking to man and woman

We are the regional leader in treating patients with CDH1 genetic mutations. CDH1 gene mutations are rare and hereditary (inherited by a parent).

If you have a mutation in your CDH1 gene, you may also have a condition known as Hereditary Diffuse Gastric Cancer (HDGC) syndrome, which dramatically increases your lifetime risk for developing diffuse stomach (gastric) cancer and lobular breast cancer.

Fewer than 3 percent of all stomach cancers are HDGC.

Diagnosing a CDH1 genetic mutation

CDH1 mutations are often diagnosed as a result of genetic screening.

Our Gastrointestinal Cancer Genetics Program offers expert cancer risk evaluations, genetic counseling and genetic testing if you have a personal or family history of gastrointestinal cancers, including pancreatic cancer, colon cancer and stomach cancer. Speak with your healthcare provider or contact the Penn Medicine Gastrointestinal Cancer Genetics Program to see if you’re a candidate for testing.

Genetic counseling and screening for a CDH1 mutation are recommended if a member of your immediate family had diffuse gastric cancer, or if you were diagnosed with stomach cancer before age 40.

Treating a CDH1 genetic mutation

Hereditary diffuse stomach cancer is incredibly difficult to detect in its early stages. Because of this, it is recommended that patients with CDH1 mutations have a total gastrectomy (stomach removal) to eliminate their risk of developing stomach cancer.

A total gastrectomy is a complex operation that requires significant lifestyle changes after surgery, but studies have shown that you can live a long and healthy life after the procedure.

If you are diagnosed with a CDH1 mutation and decide to have a total gastrectomy, you’ll receive both preoperative and postoperative counseling. We also have a patient support group that focuses on education both before and after total gastrectomy.