Cancer in A-T Carriers

Breast Cancer

The risk of breast cancer is 1 in 4 for female A-T carriers compared to 1 in 8 for females in the general population.

National Comprehensive Cancer Network (NCCN) guidelines for A-T carriers are:

• Annual mammogram and clinical breast exam every 6 – 12 months, beginning at age 30 years. Mammogram and clinical exam should be offset so that one or the other occurs every 6 months.

• Annual breast MRI scan, beginning at age 40 years, with annual mammogram and MRI offset so that one or the other occurs every 6 months.

These guidelines change previous recommendations for standard care of A-T carriers. Therefore, it is very important that all female carriers in the family are identified. Testing for a known ATM mutation is a simple and relatively inexpensive test as long as the mutations in the family member with A-T have been identified.

Other Cancers

The risks of ovarian and pancreatic cancer are also increased compared to the general population, but not enough to warrant any changes to routine surveillance.

Risk of Radiation

There are no data to suggest that diagnostic x-rays (for example, mammograms) cause harm in A-T carriers.

There is generally no extra risk from therapeutic x-rays or radiomimetic drugs (which work like x-rays) in A-T carriers who are being treated for cancer, but that may depend on the type of ATM mutation in an individual carrier.

Howard Lederman, MD, PhD – hlederm1@jhmi.edu
Jenny Wright, RN – jwrigh58@jhmi.edu
410-614-1922
Funded by A-T Children’s Project