- Hereditary Breast and Ovarian Cancer syndrome (HBOC)
- Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
- Familial Adenomatous Polyposis (FAP)/Attenuated Familial Adenomatous Polyposis (AFAP)
- MUTYH-associated Polyposis syndrome (MAP)
- MUTYH-associated Colon Cancer Risk
- Melanoma Cancer Syndrome (MCS)
- Li-Fraumeni Syndrome (LFS)
- PTEN Hamartoma Tumor syndrome (PHTS)
- Peutz-Jeghers Syndrome
- Hereditary Diffuse Gastric Cancer (HDGC) Syndrome
- Juvenile Polyposis Syndrome (JPS)
- Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT)
- PALB2-associated Cancer Risk
- CHEK2-associated Cancer Risk
- ATM-associated Cancer Risk
- NBN-associated Cancer Risk
- BARD1-associated Cancer Risk
- BRIP1-associated Cancer Risk
- RAD51C-associated Cancer Risk
- RAD51D-associated Cancer Risk
- Polymerase Proofreading-associated Syndrome (PPAS)
- Hereditary Mixed Polyposis Syndrome (HMPS)
ATM ASSOCIATED CANCER RISKS
ATM ASSOCIATED CANCER RISKS
What does it mean to have an ATM gene mutation?
Women with mutations in the ATM gene have an increased risk for breast cancer, sometimes at relatively young ages. This increase in risk is not as high as the risk for women with mutations in the genes BRCA1 and BRCA2, but it is high enough to consider options to reduce cancer risk and increased screening to make sure that any cancers that do develop are caught as early as possible.
Men and women with ATM mutations have an increased risk for pancreatic cancer. The exact risk threshold is not known, but it is probably higher in families where there is a past history of one or more people who have had pancreatic cancer.
What can be done to protect people with ATM mutations from cancer?
Women with ATM mutations may benefit from a variety of options to reduce their risk for breast cancer. This may include beginning breast cancer screenings at younger ages and screening more frequently than typically recommended. If there is a family history of pancreatic cancer, it may be reasonable to also consider screening for pancreatic cancer, but this is usually performed in research settings.
Researchers are still learning how ATM mutations can increase cancer risks. As we learn more, there may be new information about risks for other cancers and the best ways to reduce those risks. For this reason, people with ATM mutations may benefit from speaking with healthcare providers who specialize in the genetics of inherited cancer risks.
Associated Syndrome Name: ATM-associated Cancer Risk
ATM Summary Cancer Risk Table
|Cancer||Genetic Cancer Risk|
|Female Breast||High Risk|
ATM gene Overview
ATM-associated Cancer Risk 1, 2, 3, 4, 5, 6, 7
- 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.
- ATM mutations have been found in families with 2 or more cases of pancreatic cancer in close relatives, indicating that there is an increased risk for pancreatic cancer in men and women with ATM mutations. The exact risk is unknown.
- 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 cancers other than breast and pancreatic cancer, including evidence for a small increase in the risk for ovarian cancer. However, the data are not conclusive at this time 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 503, 8||Up to 9%||1.9%|
|To age 801, 2, 3, 8||17%-52%||10.2%|
|Pancreatic||To age 804, 8||Elevated risk||1%|
ATM Cancer Risk Management Table
The overview of medical management options provided is a summary of professional society guidelines as of the last Myriad update shown on this page. The specific reference provided (e.g., NCCN guidelines) should be consulted for more details 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.11||Individualized||NA|
|Clinical encounter, including clinical breast exam, ongoing risk assessment and risk-reduction counseling11||When genetic risk is identified||Every 6 to 12 months|
|Mammography with consideration of tomosynthesis and consideration of breast MRI with contrast10||Age 40, or modified to a younger age based on the family history of breast cancer||Annually|
|Consider additional risk-reduction strategies.10, 11||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 the screening for pancreatic cancer, preferably within research protocols.12, 13||Age 50, or 10 years younger than the earliest age of pancreatic cancer diagnosis in the family||Annually|
|Provide education about smoking cessation to reduce pancreatic cancer risk13||Individualized||Individualized|
|For Patients With A Cancer Diagnosis||For patients with a gene mutation and a diagnosis of cancer, targeted therapies may be available as a treatment option for certain tumor types (e.g., platinum chemotherapy, PARP-inhibitors)9||NA||NA|
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. It may be appropriate to screen the spouse/partner of this patient for ATM mutations.14
- 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.
- 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.
- 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.
- 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.
- Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. https://seer.cancer.gov/faststats. (Accessed on 1-2-2017)
- Armstrong DK, et al. NCCN Clinical Practice Guidelines in Oncology®: Ovarian Cancer. V 2.2018. March 9. Available at http://www.nccn.org.
- Daly M et al. NCCN Clinical Practice Guidelines in Oncology®: Genetic/Familial High-Risk Assessment: Breast and Ovarian. V 2.2019. July 30. Available at http://www.nccn.org.
- Bevers TB, et al. NCCN Clinical Practice Guidelines in Oncology®: Breast Cancer Screening and Diagnosis. V 2.2018. May 18. Available at http://www.nccn.org.
- Canto MI, et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 62:339-47. PMID: 23135763.
- 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.
- Gatti R, Perlman S. Ataxia-Telangiectasia. 2016 Oct 27. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Available from http://www.ncbi.nlm.nih.gov/books/NBK26468/ PMID: 20301790.
Last Updated on 09-Jul-2019