ATM mutations are common:

  • In a study of nearly 28,000 patients with a personal history of breast cancer who underwent myRisk Hereditary Cancer™ testing, 10.5% of all pathogenic mutations found were in the ATM gene.1
  • Of the first 76,000 myRisk Hereditary Cancer™ tests that were run, 8.6% (503/5805) of pathogenic mutations were found in the ATM gene.2
  • Based on the data from these two studies, approximately 8-10% of pathogenic variants identified by myRisk are in the ATM gene.

NCCN Guidelines for ATM and other breast-associated genes:

In March 2015, NCCN first outlined specific medical management guidelines for ATM as well as a number of other genes now commonly included on multi-gene panels. These were updated and affirmed in 2016.

  • Recommend MRI for carriers of pathogenic mutations in genes for which the estimated lifetime risk of breast cancer is >20% (ATM, BRCA1/2, CDH1, CHEK2, PALB2, PTEN, STK11, TP53).
  • Insufficient evidence for risk-reducing mastectomy to be considered based on the presence of an ATM, CHEK2 or STK11 mutation alone. “Intervention may still be warranted based on family history and other clinical factors.”
  • More Information on NCCN guidelines

Knowing ATM carrier status is essential for your patient’s medical management:

  • A retrospective analysis of all patients positive for a pathogenic mutation in the ATM, CHEK2 or PALB2 genes on myRisk Hereditary Cancer™ over a 9-month period showed that, of the 108 patients who tested positive for an ATM mutation during this time, only 8 (7.4%) would have qualified for MRI based on their family history alone.
  • 93% would not have been identified as appropriate for MRI without knowing their positive genetic test result.3
  • These findings were confirmed in a large simulation study: up to 91% female carriers of ATM mutations were not identified as appropriate for breast MRI without the benefit of hereditary cancer genetic testing.4


  1. Sharma L, et al., Spectrum of Mutations Identified in a 25-gene Hereditary Cancer Panel for Patients with Breast Cancer. Poster presentation at the 2014 San Antonio Breast Cancer Symposium.
  2. Rosenthal, E, et al., Outcomes of Clinical Testing for 76,000 Patients Utilizing a panel of 25 gene associated with increased risk for breast, ovarian, colorectal, endometrial, gastric, pancreatic, melanoma and prostate cancers. Poster presentation at ASCO 2015.
  3. Rosenthal, E, et al., Detection of Pathogenic Mutations in Moderate Penetrance Breast Cancer Genes Significantly Increases the Number of Patients Identified as Candidates for Increased Screening. Poster presentation at NSGC 2014
  4. Cox, H, et al., The Predictive Power of Breast Cancer Family History in the Clinic. Poster presentation at ASCO 2015. and

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