Mutations in the NBN Gene

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.
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SIGN UP FOR CONTENT UPDATESInformation 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.
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.
Cancer Treatment Options
People with an NBN mutation who have been diagnosed with cancer may qualify for specific treatments or clinical trials.
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.
More Resources
Participate in Research
The studies below are enrolling people with mutations. To search for more studies, visit our Search and Enroll Tool.
Screening Study for Men at High Genetic Risk for Prostate Cancer
Clinicaltrials.gov identifier: NCT03805919
Clinicaltrials.gov identifier: NCT04042831
Prostate Cancer Genetic Risk Evaluation and Screening Study (PROGRESS)
Clinicaltrials.gov identifier: NCT05129605