A-T Carriers and Cancer Risk
There is an increased risk of cancer in A-T carriers (people who have one mutated copy of the ATM gene). Biological parents of A-T children should be considered carriers.
The following recommendations come from the National Comprehensive Cancer Network (NCCN):
Women who are A-T carriers have a 2.5 fold increased risk to develop breast cancer compared to the general population. As of 2023, the guidelines for screening include:
- Yearly screening mammogram (with 3D mammography if available) beginning at age 40, or earlier if there is also a family history of breast cancer. (Note: At this time, there is not enough evidence to suggest that people with an ATM mutation need to avoid mammograms or other screening x-rays as recommended by their doctors.)
- Consider yearly breast MRI with contrast, or earlier if there is family history of breast cancer.
- Experts recommend that 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.
Men who are A-T carriers have an increased risk to develop prostate cancer. Current guidelines include:
- Screening start at age 40 years (physical exam and blood test to measure PSA level)
Men and women have a small increased risk for pancreatic cancer. Enhanced screening is recommended for A-T carriers who also have a family history for pancreatic cancer.
Updated Guidelines
Carriers should check with their doctors for updated guidelines. Another helpful resource is FORCE, a nonprofit dedicated to providing up-to-date, expert-reviewed information and resources that help people with hereditary cancer risk make informed medical decisions.
Carriers are not at increased risk of adverse effects from exposure to standard x-rays or CT scans. If A-T carriers develop cancer, their treatment does not need to be modified from what is given to the general population.