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ATM gene

Associated Syndrome Name: ATM-associated Cancer Risk

ATM Summary Cancer Risk Table

Cancer	Genetic Cancer Risk
Breast	High Risk
Pancreatic	High Risk
Prostate	High Risk

ATM gene Overview

ATM-associated Cancer Risk 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13

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.
Men with mutations in ATM have an increased risk for prostate cancer. There is also evidence that prostate cancers in men with ATM mutations are more likely to be aggressive.
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 Breast	To age 5012, 14	Up to 9%	2.0%
	To age 8010, 11, 12, 14	17%-52%	10.6%
Pancreatic	To age 801, 2, 13, 14	5%	1.1%
Prostate	To age 802, 5, 14, 15, 16	26%-44%	10.1%

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 Breast	Breast 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.19	Individualized	NA
	Clinical encounter, including clinical breast exam, ongoing risk assessment and risk-reduction counseling19	When genetic risk is identified, but not before age 21	Every 6 to 12 months
	Mammography with consideration of tomosynthesis and consideration of breast MRI with contrast18	Age 40, or modified to a younger age based on the family history of breast cancer	Annually
	Consider additional risk-reduction strategies.18, 19	Individualized	NA
Pancreatic	For 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.17	Age 50, or 10 years younger than the earliest age of pancreatic cancer diagnosis in the family	Annually
	Provide education about ways to reduce pancreatic cancer risk, such as not smoking and losing weight.20	Individualized	Individualized
Prostate	Incorporating information about increased risk due to gene mutation, start risk and benefit discussion about offering baseline digital rectal examination (DRE) and Prostate Specific Antigen (PSA).15	Age 40	Individualized, consider annually

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.

This patient's relatives are at risk for carrying the same mutation(s) and associated cancer risks as this patient. Cancer risks for females and males who have this/these mutation(s) are provided below.

Family members should talk to a healthcare provider about genetic testing. Close relatives such as parents, children, brothers and sisters have the highest chance of having the same mutation(s) as this patient. Other more distant relatives such as cousins, aunts, uncles, and grandparents also have a chance of carrying the same mutation(s). Testing of at-risk relatives can identify those family members with the same mutation(s) who may benefit from surveillance and early intervention.

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.21

References

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.

Hall MJ, et al. Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated (ATM) Gene are Associated with High and Moderate Risks for Multiple Cancers. Cancer Prev Res (Phila). 2021 14:433-440. PMID: 33509806.

Lott PC, et al. Resolving gastric cancer aetiology: an update in genetic predisposition. Lancet Gastroenterol Hepatol. 2018 3:874-883. PMID: 30507471.

Dalmasso B, et al. Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia. Genet Med. 2021 doi: 10.1038/s41436-021-01240-8. Epub ahead of print. PMID: 34262154.

Yadav S, et al. Contribution of Inherited DNA-Repair Gene Mutations to Hormone-Sensitive and Castrate-Resistant Metastatic Prostate Cancer and Implications for Clinical Outcome. JCO Precis Oncol. 2019 17. PMID: 32923857.

Giri VN, et al. Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019. J Clin Oncol. 2020 38:2798-2811. PMID: 32516092.

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. https://doi.org/10.1200/PO.16.00066

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.

Ajani JA, et al. NCCN Clinical Practice Guidelines in Oncology^®: Gastric Cancer. V 4.2021. Aug 3. Available at https://www.nccn.org.

Ahmed M, Rahman N. ATM and breast cancer susceptibility. Oncogene. 2006 25:5906-11. PMID: 16998505.

Swift M, et al. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med. 1991 325:1831-6. PMID: 1961222

Thompson D, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst. 2005 97:813-22. PMID: 15928302.

Roberts NJ, et al. ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov. 2012 2:41-6. PMID: 22585167.

SEER*Explorer: An interactive website for SEER cancer statistics [Internet]. Surveillance Research Program, National Cancer Institute. [Cited 2020 Sep 14]. Available from https://seer.cancer.gov/explorer/.

Carroll PR, et al. NCCN Clinical Practice Guidelines in Oncology^®: Prostate Cancer Early Detection. V 2.2021. July 14. Available at https://www.nccn.org.

Karlsson Q, et al. Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study. Eur Urol Oncol. 2021 4:570-579. PMID: 33436325.

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.

Daly M et al. NCCN Clinical Practice Guidelines in Oncology^®: Genetic/Familial High-Risk Assessment: Breast, Ovarian and Pancreatic. V 1.2022. Aug 11. Available at https://www.nccn.org.

Bevers TB, et al. NCCN Clinical Practice Guidelines in Oncology^®: Breast Cancer Screening and Diagnosis. V 1.2021. May 6. Available at https://www.nccn.org.

Tempero MA, et al. NCCN Clinical Practice Guidelines in Oncology^®: Pancreatic Adenocarcinoma. V 2.2021. Feb 25. Available at https://www.nccn.org.

Gatti R, et al. Ataxia-Telangiectasia. 2016 Oct 27 In: Adam MP, et al., editors. GeneReviews^® [Internet]. PMID: 20301790.

Last Updated on 20-Jul-2023

Gene Results