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CHEK2 Gene Mutation

Learn about the cancer risks, screening, prevention and treatment options for people with inherited CHEK2 mutations. Stay updated by signing up for our community newsletter.
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Information for People with an Inherited Mutation

What is ?

is a gene that helps repair damage to your . People who are born with changes—called mutations—in their CHEK 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 certain cancers, including:

  • breast cancer in women
  • male breast cancer

mutations have also been linked to an increased risk for and other cancers, but more research is needed to confirm this. 

Does everyone with a mutation develop cancer?

Although the lifetime risk for cancer with a mutation is higher than average, not everyone with the 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 do if they are positive for a mutation?

People with a mutation may have options for screening, prevention and treatment for . There are expert guidelines and clinical trials that focus on:

  • screening and early detection
  • risk-reduction
  • treatment

These guidelines are based on the most current research and updated yearly. People who test positive for a mutation should speak with a genetics expert to make sure that their medical care is based on the most up-to-date information. 

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. 

Can mutations skip a generation?

mutations are passed down from parents to children, but they do not skip generations. Each person with a mutation has a 50% chance of passing their mutation on to each of their children. Children who did not inherit their parent's mutation cannot pass the mutation to their children.

People with a mutation who never develop cancer can still pass their mutation on to their children. A child who inherits their parent's mutation will be at increased risk for cancer. 

More detailed information for people with inherited mutations is highlighted below. 

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Share Your Test Results with Relatives  ›

Download our sample letter to help you share your CHEK2 test results with relatives. 

More Information for People with a Mutation

Cancer Risks

Cancer risk estimates are updated based on the latest research. Read about the lifetime risk for different cancers in people with inherited CHEK2 mutations. 

More info

Risk Management Options

Read about expert guidelines for cancer screening and prevention for people with a CHEK2 mutation. Learn about research studies enrolling high-risk patients. 

More info

Cancer Treatment Options

Tumor testing and genetic testing can provide clues about which treatments may work best for your cancer. People with a CHEK2 mutation may have additional treatment or clinical trial options. 

More info

Last updated July 27, 2025