CDH1 Gene Mutation
Information about Inherited Mutations
What is ?
is a gene that helps control cell growth. People who are born with changes—called mutations—in their gene have an increased risk for certain types of cancer.
Which cancers are associated with a mutation?
People with an in have an increased risk for breast cancer and a type of stomach cancer known as diffuse gastric cancer.
Does everyone with a mutation develop cancer?
Although the lifetime risk for cancer with a mutation is high, not everyone with a mutation develops cancer. Following the guidelines for screening and prevention increases the chances of preventing cancer or catching it at its earliest and most treatable .
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 eyelids.
If you test positive for a mutation, you should inform your close blood relatives (first-, second-, and third-degree relatives) about your test results and encourage them to speak with a genetics expert.
More detailed information for people with inherited mutations is highlighted below.
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Information for People with Inherited Mutations
Cancer Risks
Cancer risk estimates are updated based on the latest research. Read about the lifetime risk for different cancers in people with inherited CDH1 mutations.
Risk Management Options
Read about the latest expert guidelines for cancer screening and prevention for people with a CDH1 mutation. Learn about research studies enrolling high-risk patients.
Cancer Treatment Options
Tumor biomarker testing and genetic testing can provide additional clues about which treatments may work best for your cancer. People who test positive for a CDH1 mutation may have additional treatment or clinical trial options available to them.
Other Considerations
CDH1 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
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