Risk management for people with inherited ATM mutations

The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for people with ATM mutations. We recommend that you speak with a genetics expert, who can look at your personal and family history of cancer and can help you determine the best risk management plan. You can learn more about risk management options in our section on Screening and Risk Reduction by Cancer Type.

People with an ATM mutation may also qualify for clinical trials looking for more effective screening or prevention for cancer.

Breast cancer screening and prevention

For women with ATM mutations, experts recommend the following screening begining at age 40, or earlier based on the family history of breast cancer:

• yearly screening mammograms with 3-D mammography, if available 
  • Note:  At this time there is not enough evidence to suggest that people with an ATM mutation need to avoid mammograms or other screening XRAYS as recommended by their doctors. See our Other Considerations section for information about the safety of XRAY exposure from mammograms in people with a single ATM mutation versus people with a mutation in both copies of their ATM gene.
• consider yearly MRI with contrast

Experts also recommend women with an ATM mutation have a discussion with their health care provider about the option of risk-reducing mastectomy based on their personal and family history of breast cancer.

Ovarian cancer screening and prevention

There has not been enough research to show a benefit from ovarian cancer screening and prevention in women who have an ATM mutation. For this reason, experts recommend managing ovarian cancer risk based on family history of cancer. 

Pancreatic cancer screening

The guidelines for pancreatic cancer screening for people with an ATM mutation include only people with a family history of pancreatic cancer.

• For ATM mutation carriers with a first- or second- degree relative with pancreatic cancer consider screening beginning at age 50 or 10 years younger than the age of diagnosis of the relative. 
• For mutation carriers who choose pancreatic cancer screening, NCCN recommends that the screening be performed in an experienced facility, ideally under research conditions. Before undergoing screening, people should have a conversation with their doctor about the potential benefits, risks, costs and limitations of screening.
• Consider annual screening with contrast-enhanced MRI/MRCP (magnetic resonance cholangiopancreatography) and/or EUS (endoscopic ultrasound).
• Consider enrolling in a research study looking at methods to screen for cancer, or agents to lower risk. 

Prostate cancer screening

• Men with an inherited ATM mutation should have a conversation with their doctor about the benefits, limitations and costs for prostate cancer screening.
• For men who choose screening, the panel recommends annual PSA testing and digital rectal exam.

Other cancer screening and prevention

There has not been enough research to show a benefit from screening and prevention for other cancers in people who have an ATM mutation. For this reason, experts recommend managing these risks based on family history of cancer.  Cancer screening and prevention research studies may be available for people with ATM mutations.