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 decide on a plan to manage your risk. You can learn more about risk-management options in our section on Screening and Risk Reduction by Cancer Type. Note that when we use "men" and "women" we are referring to the sex you were assigned at birth.

Breast cancer screening and prevention for women

• Begin mammograms at age 40, or earlier based on the family history of breast cancer.
• Have a discussion with your doctor about of the benefits and risks of yearly MRI with contrast beginning at age 30-35.
• Have a discussion with your doctor about the option of risk-reducing mastectomy based on your personal and family history of breast cancer.
• Tamoxifen and other drugs that block estrogen can reduce breast cancer risk in high-risk women. More research is needed to prove that they are effective for women with ATM mutations.

Ovarian cancer screening and prevention

• There has not been enough research to show a benefit from ovarian cancer screening and prevention in people who have an ATM mutation. For this reason, experts recommend managing ovarian cancer risk based on family history of cancer. 
• Symptom awareness: Be aware of ovarian cancer symptoms. Report to any of the following symptoms that persist for several weeks and are a change from normal to your doctor:
  • pelvic or abdominal pain
  • bloating or distended belly
  • difficulty eating
  • feeling full sooner than normal
  • increased urination or pressure to urinate

Pancreatic cancer screening

There are two tests that are used to look for pancreatic cancer. 

• Contrast-enhanced magnetic resonance cholangiopancreatography (MRCP) is a special type of MRI imaging that looks closely at the pancreas, liver, gallbladder, bile duct and pancreatic duct to find abnormalities such as cancer.
• Endoscopic ultrasound (EUS) involves passing a tiny scope with an attached ultrasound probe down the esophagus to the stomach. This allows doctors to look closely at the pancreas.  

Pancreatic cancer screening for people with an ATM mutation is only recommended for 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. 
• Before undergoing screening, you should have a conversation with your doctor about the benefits, risks, costs and limitations of screening.
• Screening includes annual contrast-enhanced MRI/MRCP (magnetic resonance cholangiopancreatography) and/or EUS (endoscopic ultrasound). 
• Screening should be done at a facility with experience in screening high-risk patients for pancreatic cancer. 

Prostate cancer screening

• By age 40, you should have a conversation with your doctor about the potential benefits, risks, costs and limitations of screening for prostate cancer.
• If you choose to have screening, the guidelines recommend an annual digital rectal exam and Prostate Specific Antigen (PSA) test. 

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 your family history. Cancer screening and prevention research studies may be available.