ATM Gene Mutations




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Additional Information

ATM gene

Associated Syndrome Name: ATM-associated Cancer Risk

ATM Summary Cancer Risk Table

Cancer Genetic Cancer Risk
Female BreastHigh Risk
PancreaticHigh Risk

ATM gene Overview

ATM-associated Cancer Risk 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11
  • Women with ATM mutations have a risk for breast cancer that is significantly increased over the 12.5% lifetime risk for women in the general population of the United States. The increase in risk may be especially significant at young ages.
  • Men and women with ATM mutations have an increased risk for pancreatic cancer. The exact risk has not yet been established, but the available data suggests that the risk is approximately 5% to age 80. The risk may be higher in individuals with a family history of pancreatic cancer.
  • Although there is not yet sufficient evidence to show an overall increase in prostate cancer risk for men with mutations in ATM, there is some evidence that prostate cancers that do develop are more likely to be aggressive. However, these studies are not conclusive and there are currently no medical management guidelines to address this possible risk.
  • There have been studies to investigate the possibility that patients with ATM mutations have an increased risk for a wide range of other cancers, including gastric and ovarian cancer. However, the data are not conclusive at this time, the increase in risk may be small, and there are currently no medical management guidelines related to these cancers.
  • Although there are increased risks for cancer in men and women with mutations in ATM, there are interventions that may reduce these risks. Guidelines from the National Comprehensive Cancer Network (NCCN) that may apply are listed below. Since information about the cancer risks associated with ATM mutations is relatively new, and there is still some uncertainty about the best ways to reduce these risks, it may be appropriate to interpret these results in consultation with cancer genetics experts in this emerging area of knowledge.

ATM gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
Female BreastTo age 502, 12Up to 9%1.9%
To age 802, 4, 5, 1217%-52%10.2%
PancreaticTo age 801, 3, 9, 125%1%

ATM Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.

This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.

Cancer Type Procedure Age to Begin Frequency
(Unless otherwise indicated by findings)
Female BreastBreast awareness - Women should be familiar with their breasts and promptly report changes to their healthcare provider. Periodic, consistent breast self-examination (BSE) may facilitate breast awareness.16IndividualizedNA
Clinical encounter, including clinical breast exam, ongoing risk assessment and risk-reduction counseling16When genetic risk is identifiedEvery 6 to 12 months
Mammography with consideration of tomosynthesis and consideration of breast MRI with contrast15Age 40, or modified to a younger age based on the family history of breast cancerAnnually
Consider additional risk-reduction strategies.15, 16IndividualizedNA
PancreaticFor patients with a family history of pancreatic cancer, consider available options for pancreatic cancer screening, including the possibility of endoscopic ultrasonography (EUS) and MRI/magnetic resonance cholangiopancreatography (MRCP). It is recommended that patients who are candidates for pancreatic cancer screening be managed by a multidisciplinary team with experience in screening for pancreatic cancer, preferably within research protocols.13, 14Age 50, or 10 years younger than the earliest age of pancreatic cancer diagnosis in the familyAnnually
Provide education about ways to reduce pancreatic cancer risk, such as not smoking and losing weight.13, 17IndividualizedIndividualized

Information for Family Members

The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the ATM gene.

A major potential benefit of myRisk genetic testing for hereditary cancer risk is the opportunity to prevent cancer in relatives of patients in whom clinically significant mutations are identified. Healthcare providers have an important role in making sure that patients with clinically significant mutations are informed about the risks to relatives, and ways in which genetic testing can guide lifesaving interventions.

In rare instances, an individual may inherit mutations in both copies of the ATM gene, leading to the condition Ataxia-Telangiectasia (A-T). Most individuals with A-T will have symptoms in childhood, including neuronal degeneration, radiosensitivity and immunological deficiency. There is also a high risk of cancer, primarily leukemias and lymphomas. The children of this patient are at risk of inheriting A-T only if the other parent is also a carrier of an ATM mutation. Screening the other biological parent of any children for ATM mutations may be appropriate.18


  1. Hall MJ, et al. Cancer risks associated with pathogenic variants in the ataxia telangiectasis mutated (ATM) gene. 2019 Poster presented at San Antonio Breast Cancer Symposium.
  2. Thompson D, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst. 2005 97:813-22. PMID: 15928302.
  3. Hu C, et al. Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. JAMA. 2018 319:2401-2409. PMID: 29922827.
  4. Swift M, et al. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med. 1991 325:1831-6. PMID: 1961222
  5. Ahmed M, Rahman N. ATM and breast cancer susceptibility. Oncogene. 2006 25:5906-11. PMID: 16998505.
  6. Ajani JA, et al. NCCN Clinical Practice Guidelines in Oncology®: Gastric Cancer. V 4.2019. Dec 20. Available at
  7. Lilyquist J, et al. Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls. Gynecol Oncol. 2017 [Epub ahead of print] PubMed PMID: 28888541.
  8. Kurian A, et al. Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women. JCO Precision Oncol. 2017 Epub ahead of print June 27, 2017.
  9. Roberts NJ, et al. ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov. 2012 2:41-6. PMID: 22585167.
  10. Giri VN, et al. Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017. J Clin Oncol. 2018 36:414-424. PMID: 29236593.
  11. Lott PC, et al. Resolving gastric cancer aetiology: an update in genetic predisposition. Lancet Gastroenterol Hepatol. 2018 3:874-883. PMID: 30507471.
  12. Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. (Accessed on 1-2-2017)
  13. Syngal S, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 110:223-62. PMID: 25645574.
  14. Goggins M, et al. Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium. Gut. 2020 69:7-17. PMID: 31672839.
  15. Daly M et al. NCCN Clinical Practice Guidelines in Oncology®: Genetic/Familial High-Risk Assessment: Breast, Ovarian and Pancreatic. V 1.2020. Dec 4. Available at
  16. Bevers TB, et al. NCCN Clinical Practice Guidelines in Oncology®: Breast Cancer Screening and Diagnosis. V 1.2019. May 17. Available at
  17. Tempero MA, et al. NCCN Clinical Practice Guidelines in Oncology®: Pancreatic Adenocarcinoma. V 1.2020. Nov 26. Available at
  18. Gatti R, Perlman S. Ataxia-Telangiectasia. 2016 Oct 27. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Available from PMID: 20301790.
Last Updated on 10-Dec-2020