ATM Gene Mutation
Information about Inherited Mutations
What is ?
is a gene that helps repair damage to your . People who are born with changes—called mutations—in the gene have an increased risk for certain types of cancer.
Which cancers are associated with an mutation?
People with an in their gene have an increased risk for certain cancers, including:
- breast
- ovarian
- pancreatic
- colorectal (more research needed to confirm this)
- (more research needed to confirm this)
Does everyone with an mutation develop cancer?
Although the lifetime risk for cancer with an 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 with an mutation do?
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
These guidelines are based on the most current research and updated yearly. People who test positive for an mutation should speak with a genetics expert to make sure that their medical care is based on the most up-to-date information.
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.
If you test positive for an 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.
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Information for People with an 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 ATM mutations.
Risk Management Options
Read about the latest expert guidelines for cancer screening and prevention for people with an ATM mutation. Learn about research studies enrolling high-risk patients.
Cancer Treatment Options
Tumor biomarker testing and genetic testing can provide additional clues about which treatments may work best for your cancer. People who test positive for an ATM mutation may have additional treatment or clinical trial options available to them.
Other Considerations
People who inherit a mutation in both copies of their ATM gene—one from each parent—have a rare disease known as Ataxia-Telangiesctasia. Learn additional information about inherited ATM mutations.
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June 11, 2021
