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Mutations in the NBN Gene

Learn about what it means to have an inherited NBN mutation and how it may affect your medical care. Stay up to date by signing up for our community newsletter.
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Frequently Asked Questions about Inherited Mutations

Below are some of the questions people ask about the gene. If you have already tested positive for an mutation, you can read more detailed information in the quick links above.

What is ?

is a gene that helps repair damage to your . People born with a mutation in one copy of their gene are not considered at increased risk for cancer. 

What is the connection between mutations and cancer?

People with a single mutation have that same risk for cancer as people without a mutation. For people already diagnosed with cancer, an mutation may open up new treatment options. 

People who are born with a mutation in both copies of their gene have Nijmegen breakage syndrome. This syndrome is associated with developmental conditions and an increased risk for and other types of cancer. 

What can people do if they have an mutation?

If you test positive for an mutation, you should speak with a genetics expert to make sure that your medical care is based on the most up-to-date information. 

Information for People with Inherited Mutations

Cancer Risks

People with an inherited mutation in NBN may have an increased risk for certain cancers. Cancer risk estimates are updated based on the latest research.

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Risk Management Options

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

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Cancer Treatment Options

People with an NBN mutation who have been diagnosed with cancer may qualify for specific treatments or clinical trials. 

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Other Considerations

People who inherit a mutation in both copies of their NBN gene—one from each parent—have a rare disease known as Nijmegen breakage syndrome. Learn more about this syndrome. 

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Last updated September 15, 2025