Download PDF

Understanding Your Positive ATM Genetic Test Result

Information for patients with a pathogenic mutation or variant, likely pathogenic

4 Things To Know

1 ATM mutation Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the ATM gene.
2 Cancer risks You have an increased chance to develop female breast cancer, pancreatic cancer, and possibly other types of cancer
3 What you can do There are risk management options to detect cancer early or lower the risk to develop cancer. It is important to discuss these options with your doctor, and decide on a plan that best manages cancer risks.
4 Family Family members may also be at risk – they can be tested for the ATM mutation that was identified in you.

ATM Mutations in the Family

There is a 50/50 random chance to pass on an ATM mutation to your sons and daughters. The image to the right shows that both men and women can carry and pass on these mutations.

Asset 1 Has ATM mutation No ATM mutation

Understanding Your Positive ATM Genetic Test Result

Information for patients with a pathogenic mutation or variant, likely pathogenic

Result mutation Your testing shows that you have a pathogenic mutation (a disease-causing change in the gene, like a spelling mistake) or a variant that is likely pathogenic in the ATM gene. Both of these results should be considered positive
Gene ATM Everyone has two copies of the ATM gene, which we randomly inherit from each of our parents. Mutations in one copy of the ATM gene can increase the chance for you to develop certain types of cancer in your lifetime.
Cancer Risks increased You have an increased chance to develop female breast cancer (about 2-4 times higher than the average woman), pancreatic cancer, prostate cancer, and possibly other cancers. Some specific ATM mutations may cause a higher chance for female breast cancer (up to 52-69%).
Other Medical Concerns may be present Individuals with ATM mutations may have an increased risk (25%) to have a child with ataxia telangiectasia, but only if their partner also carries a mutation in the ATM gene. Ataxia telangiectasia is a rare condition that can cause enlarged blood vessels under the skin (telangiectasias), uncoordinated movements, and other neurological symptoms.
Management Options for women Options for early detection and prevention for women may include: breast exam, mammogram, breast MRI, and options for preventive surgery. Talk to your doctor about what options may be right for you.
Management Options for men & women Options for screening and early detection may include pancreatic or other types of cancer screening. Talk to your doctor about what options may be right for you.
Risk Management varies Risk management decisions are very personal, and the best option depends on many factors. Screening typically begins earlier than the general population and is often more frequently performed. It is important to discuss these options with your doctor
Family Members 50/50 chance Your close relatives (like your parents, brothers, sisters, children) have a 50/50 random chance of inheriting the ATM mutation that you carry, and other family members (like your aunts, uncles, cousins) may also inherit it. Your relatives can be tested for this same mutation. Depending on the family history, those who DO NOT have it may not have an increased chance (above the general population) to develop cancer.
Next Steps discuss It is recommended that you share this information with family members so they can learn more and discuss this with their healthcare providers.
Reach Out resources

Please discuss this information with your healthcare provider. The cancer genetics field is continuously evolving, so updates related to your ATM result, medical recommendations, and/or potential treatments may be available over time. This information is not meant to replace a discussion with a healthcare provider, and should not be considered or interpreted as medical advice.

Search Results

Start your search...