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Genes Associated with Hereditary Cancers

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

CDH1 (Hereditary diffuse gastric cancer syndrome)

Genetic testing can find mutations in a gene called CDH1. Inherited mutations in the CDH1 gene are associated with hereditary diffuse gastric cancer syndrome, which is known to increase the risk of certain cancers, including:

  • stomach cancer (up to 80% lifetime risk)
  • lobular breast cancer in women (up to 52% lifetime risk)

People with mutations in CDH1 tend to develop cancer at a younger age than people with average cancer risk. Ongoing research may help researchers better understand cancer risk for people with a CDH1 mutation.The PROMPT Study is a research registry enrolling people who have had panel testing in order to learn more about cancer risks associated with gene mutations like CDH1

National guidelines for managing cancer risk in people with CDH1 mutations recommend:

  • heightened screening for breast cancer in women beginning at age 30
  • discussing the option of risk-reducing mastectomy (surgical removal of breast tissue)
  • endoscopy to screen for stomach cancer
  • risk-reducing gastrectomy (surgical removal of stomach) 

Other options, including participating in detection and prevention research studies, may be available to manage risk.

A genetics expert can look at your personal and family medical history and see if it is consistent with hereditary diffuse gastric cancer syndrome syndrome and order testing if appropriate. 

updated 12/26/17

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