Cancer risk associated with inherited ATM mutations

If you have tested positive for an ATM mutation, we recommend that you speak with a genetics expert who can look at your personal and family history of cancer and help you decide on a plan for managing your cancer risk. It is important to note that cancer risks are estimates over the course of a person's lifetime. Your lifetime risk and risk over the next five years will vary depending on:

• current age
• sex assigned at birth
• specific mutation
• personal and family health history
• diet, exercise, lifestyle and other factors

Note that when we use "men" and "women" we are referring to the sex you were assigned at birth.

Breast cancer risk

Women with an ATM mutation have an increased risk of breast cancer. The estimated lifetime risk of breast cancer is as high as 40 percent.  

Pancreatic cancer risk

People with an ATM mutation have an increased risk for pancreatic cancer. The estimated lifetime risk is 5-10%. 

Ovarian cancer risk

The risk for ovarian cancer, fallopian tube or primary peritoneal cancer (these three cancers and their risks are related and are often referred to together as ovarian cancer) is slightly elevated for people with an inherited ATM mutation.The estimated lifetime risk is about 2-3%, compared to about 1.3% for the general population.

Risk for other cancers

Some research has suggested that ATM mutations may also increase the risk for the following cancers:

• prostate
• melanoma
• other cancers   

Research on the cancer risks in people with ATM mutations is ongoing but not yet conclusive. More research is needed to better define the lifetime risks for other cancers in people with an ATM mutation. For this reason, genetics experts often look at a family’s history of cancer to help people with ATM mutations understand their risk for additional cancers.