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PALB2 Gene Mutations

Learn about the cancer risks, screening, prevention and treatment options for people with inherited PALB2 mutations.

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Information for People with an Inherited Mutation

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

  • breast cancer (male and female)
  • pancreatic
  • ovarian

People with a 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 Fanconi anemia 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. 

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 a 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 a 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 Fanconi anemia. Learn additional information about inherited mutations. 

More info

More Resources

Participate in Prevention Research

The screening and prevention studies below are enrolling people with mutations. To search for more studies, visit our Search and Enroll Tool

Participate in Treatment Research

The treatment studies below are enrolling people with mutations. To search for more studies, visit our Search and Enroll Tool

Watch Our Expert Webinars on Mutations

Webinar: What's new for people with ATM, CHEK2 or PALB2 mutations?

Webinar: Cancer Risks, Screening and Prevention for People with ATM, CHEK2, PALB2 and Other Genes

Last updated February 25, 2024