Mutations in the CDH1 Gene
Information for People with an Inherited Mutation
What are the cancer risks for people with a mutation?
People with an in have increased risk for breast and a type of stomach cancer known as diffuse gastric cancer.
What can people with a mutation do?
Experts have created guidelines which estimate cancer risk and outline recommendations for managing risk in people with a mutation.
There may be other medical concerns, including a rare childhood disease called blepharocheilodontic (BCD) syndrome that can cause cleft palate, cleft lip or changes in the eyeids.
Each of these topics is outlined in more detail in the sections highlighted below.
Cancer Risks
Cancer risk estimates are updated based on the latest research. Read about the lifetime risk for different cancers in people with inherited mutations.
Risk Management Options
Read about the latest expert guidelines for cancer screening and prevention for people with a mutation. Learn about research studies enrolling high-risk patients.
Cancer Treatment Options
Tumor testing and genetic testing can provide additional clues about which treatments may work best for your cancer. People who test positive for a mutation may have additional treatment or clinical trial options available to them.
Other Considerations
mutations have been associated with a rare condition known as blepharocheilodontic (BCD) syndrome which is present at birth. Learn more about this condition.
More Information
National Public Radio reporter Sáša Woodruff shares her story of learning about her CDH1 mutation and making a decision about risk-reducing surgery. Mutations in the CDH1 gene significantly increase a person’s risk of stomach and...
August 12, 2019
My CDH1 Mutation and Why I Chose Preventive Gastrectomy
by Jonathan Grossman On January 4, 2018, my mom died of hereditary diffuse gastric cancer. She carried a CDH1 mutation that we only learned about after her diagnosis. Doctors diagnosed her with the disease roughly three years before she died....