CDH1 Gene Mutation

CDH1 is a gene that helps control cell growth. People who are born with changes—called mutations—in their CDH1 gene have an increased risk for certain types of cancer.   

People with an inherited mutation in CDH1 have an increased risk for breast cancer and a type of stomach cancer known as diffuse gastric cancer.

Although the lifetime risk for cancer with a CDH1 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 stage.

Experts have created guidelines which estimate cancer risk and outline recommendations for managing risk in people with a CDH1 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 CDH1 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.