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What You Should Know About CDH1 Pathogenic/Likely Pathogenic Variants
Individuals with a pathogenic/likely pathogenic (P/LP) variant in the CDH1 gene have an increased risk for cancers of the stomach and breast.
UT Southwestern Medical Center is home to one of the largest hereditary cancer programs in the nation, offering expert care and experience in treating individuals with CDH1 P/LP variants.
Cancer Risks Associated with a CDH1 Mutation
Individuals with a CDH1 P/LP variant have an increased risk for a specific type of stomach cancer called diffuse or signet ring carcinoma. The lifetime risk for females with the variant to get this cancer is up to 35%, and for males with the variant it is up to 45%. Females with the variant also have up to a 55% lifetime risk for breast cancer. The type of breast cancer tends to be lobular breast cancer.
Managing Cancer Risks
UT Southwestern’s Genetic Cancer Prevention Clinic (GCPC) helps ensure people are receiving appropriate cancer surveillance and management based on their genetic testing results. For more information about the GCPC or to request an appointment, please call us at 214-645-2563.
Stomach Cancer
- Surgical oncology specialists work with patients to determine the appropriate risk management or surgical plan for hereditary stomach cancer.
- Our specialists follow recommendations from the National Comprehensive Cancer Network (NCCN), including:
- Surgery to remove the stomach
- Surveillance with upper endoscopy
Breast Cancer
- Breast specialists work with patients to determine appropriate surveillance and risk management.
- Our specialists follow recommendations from the National Comprehensive Cancer Network (NCCN), including:
- Annual mammogram and annual breast magnetic resonance imaging (MRI) starting at age 30
- Consideration of risk-reducing mastectomy, depending on personal risk factors for cancer and family history of cancer
Additional screenings/risk management or earlier ages of screenings/risk management may be considered based on personal risk factors and family history.
Risks to Family Members
P/LP variants in the CDH1 gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with a CDH1 P/LP variant have a 1 in 2 (or 50%) chance of having the P/LP variant as well. Both males and females can inherit a familial CDH1 P/LP variant, and both males and females can pass it on to their children.