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ATM Gene Mutations

Learn about the cancer risks and prevention and treatment options for people with inherited ATM mutations.

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Information for People with an Inherited Mutation

People with an in their gene have increased risk for certain cancers, including:

  • breast
  • ovarian
  • pancreatic
  • (more research needed to confirm this)

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

  • screening and early detection
  • risk-reduction
  • treatment 

There may be other medical concerns for people with a mutation, including a rare childhood disease known as Ataxia-Telangiesctasia (AT) which can happen in people who inherit a mutation in both copies of their gene. 

Each of these topics is outlined in more detail in the sections highlighted below. 

In the News

H. pylori bacteria infection and risk of stomach cancer in mutation carriers

Study: H. pylori bacteria infection and risk of stomach cancer in mutation carriers

The results of a study in Japan show that people with a bacterial infection called H. pylori and an inherited mutation in an ATM, BRCA1, BRCA2 or PALB2 gene have a high risk of stomach...

More Information on 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 mutations. 

More info

Risk Management Options

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

More info

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 an mutation may have additional treatment or clinical trial options available to them. 

More info

Other Considerations

People who inherit a mutation in both copies of their gene—one from each parent—have a rare disease known as Ataxia-Telangiesctasia. Learn additional information about inherited mutations. 

More info

More Resources

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Last updated June 20, 2024