A panel of worldwide experts recently published recommendations for people with an ATM mutation, which raises the risk for breast, pancreatic, and prostate cancers.
Among women
- Breast cancer: Recommend starting annual breast magnetic resonance imaging (MRI) between age 30 to 35 and adding mammograms at age 40. Routine consideration of risk-reducing mastectomy is not supported by evidence. In women diagnosed with breast cancer, shared decision-making about bilateral mastectomy should be made estimating individual risks based on the age, tumor size, stage, grade, receptor status and family history.
- Ovarian cancer: Generally, the risk threshold to consider removing the ovaries and fallopian tubes is not met; however, family history of ovarian cancer can be considered and shared decision-making remains important. Screening is not advised since no reliable methods to detect ovarian cancer early are known.
Among men
- Prostate cancer: Prostate-specific antigen (PSA) testing should begin at age 40 on an annual basis. A digital rectal exam may be useful to guide interpretation of PSA findings.
Among both women and men
- Pancreatic cancer: Surveillance through annual endoscopic ultrasound (EUS) or MRI cholangiopancreatography (MRI/MRCP) may be considered, though recommendations vary greatly across countries. Surveillance should be done at medical centers with appropriate expertise. The panel of experts noted that more research is needed, ideally as part of a clinical trial.
Check out an overview by Drs. Tischkowitz and Pal, who co-led this ATM effort, at: https://youtu.be/T76iGtn8_Do
Pal T, et al. Genet Med. 2025;27(1):101243. PMID: 39636577. Article available at: https://tinyurl.com/atmarticle. Social media post available at: https://tinyurl.com/post12052024.