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ATM: Screening & Prevention

People with an ATM mutation have options for managing their cancer risk. Learn about the screening and prevention guidelines. Stay up to date by signing up for our community newsletter.
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Risk Management for People with Inherited ATM Mutations

People with ATM mutations have options for managing their increased cancer risk. Experts at the National Comprehensive Cancer Network (NCCN) created guidelines for people with an ATM mutation to manage their cancer risk. We recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you decide on a plan for managing your risk.

NCCN recommends that all people with an inherited ATM mutation receive education on the signs and symptoms of ATM-related cancers. NCCN guidelines for specific cancers are listed below. 

People with an ATM mutation may also qualify for clinical trials looking for more effective screening, prevention or interception of cancer.

Breast cancer risk management for women

Beginning Age

Recommendation

Additional Information

25 (or earlier based on youngest age of breast cancer in the family)

Learn to be aware of changes in your breasts.

Self exams may be most informative at the end of the menstrual cycle.

25 (or earlier based on youngest age of breast cancer in the family)

Breast exam by doctor (also known as a clinical breast exam) every 6-12 months.

30-35

Have a discussion with your doctor about the benefits, risks and costs of yearly breast with and without contrast.

40 (or earlier based on family history of breast cancer)

Yearly .

No designated age

More research is needed to show whether people with inherited mutations benefit from risk-reducing mastectomy. Discuss with your doctor about the option of risk-reducing mastectomy based on your personal and family history of cancer.

Risk-reducing mastectomy lowers breast cancer risk by 90%, but has not been shown to improve survival. Even after double mastectomy, some breast tissue, and therefore cancer risk remains.

Have a discussion with your doctor about the benefits, risks and costs of medications to lower the risk for breast cancer with your doctor.

Tamoxifen or other estrogen-blocking drugs may lower breast cancer risk. Medications or vaccines are being studied in clinical trials.

75

Have a discussion with your doctor about whether to continue, stop or change breast screening.

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, , vs. 1, 2027.

Male breast cancer 

Currently there are no guidelines on male breast cancer screening for people with an mutation. Speak with your doctor about the benefits and risks of screening. 


Pancreatic cancer risk management

Types of pancreatic cancer screening tests

There are two types of tests that are used to screen for pancreatic cancer in high-risk people. 

  • MRCP (Contrast-enhanced magnetic resonance cholangiopancreatography) is a special type of  imaging that looks closely at the pancreas, liver, gallbladder, bile duct and pancreatic duct to find abnormalities such as cancer.
  • EUS (Endoscopic ) involves passing a tiny scope with an attached  probe down the esophagus to the stomach. This allows doctors to look closely at the pancreas.  

Researchers are testing new approaches to pancreatic cancer screening and prevention through clinical trials

Pancreatic cancer guidelines

Beginning Age

Family History

Recommendation

50 (or earlier based on the youngest case of pancreatic cancer in the family)

For mutation carriers regardless of family history.

  • Discuss the benefits, risks, costs and limitations of screening with your doctor.
  • Screening should include annual MRCP or EUS or both.
  • Screening should be performed in a facility with experience in screening high-risk patients for pancreatic cancer.

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, v. 1, 2027.


Ovarian and cancer risk management

Beginning Age

Recommendation

Additional Information

No set age

Become aware of ovarian and primary peritoneal cancer symptoms. Report to any symptoms that persist for several weeks and are a change from normal to your doctor.

Routine ovarian cancer screening using transvaginal and a blood test has not shown benefit and is not recommended.

Symptoms of ovarian cancer include:

  • pelvic or abdominal pain
  • bloating or distended belly
  • difficulty eating
  • feeling full sooner than normal
  • increased urination or pressure to urinate

No set age

More research is needed to show whether people with inherited mutations benefit from risk-reducing surgery to remove their ovaries and . Currently, experts recommend that you have a discussion with your doctor about the option of risk-reducing surgery based on your family history of cancer.

If you decide to have risk-reducing surgery:

  • The surgery should be done at a facility that has expertise and follows special precautions for people with inherited mutations, including a procedure known as an abdominal wash at the time of surgery. The pathologist should do an extensive exam of the using a procedure called SEE-FIM to look for any abnormalities.
  • If an abnormality known as a "serous tubal intraepithelial carcinoma" or STIC lesion is noted in your , you should be referred to a gynecologic oncologist for follow up care.
  • Discuss your plans for pregnancy and fertility concerns with your doctor, and request a referral to a fertility specialist if indicated.
  • Discuss options for managing the effects of early menopause with your doctor.
  • After , a very small risk remains for a related cancer known as primary peritoneal cancer (PPC). There is no effective screening for PPC after .
  • In people with mutations, risk-reducing surgery has been linked to longer survival compared to people who have not had surgery. Similar research has not been done in people with mutations.

Before age 50

Researchers are studying whether the removal of the only (), while delaying until closer to the age of natural menopause is a safe option for lowering risk in people who are not ready to remove their ovaries. If you are interested in this approach, talk with your doctor about the benefits and risks, and consider enrolling in a research study.

  • At this time, it is not known if lowers the risk for ovarian cancer in high-risk people.
  • , followed by delayed requires two separate surgeries.
  • Discuss your plans for pregnancy and fertility concerns with your doctor, and request a referral to a fertility specialist if indicated.

No set age

Oral contraceptives (birth control pills) have been shown to lower the risk for ovarian cancer in people with mutations and in the general population. No similar research has been done on people with mutations. Have a discussion with your doctor about the benefits and risks of oral contraceptives for lowering ovarian cancer risk.

Research on the effect of oral contraceptives on breast cancer risk has been mixed.

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, , vs. 1, 2027.


cancer risk management

Beginning Age

Recommendation

40

  • Have a conversation with your doctor about the potential benefits, risks, costs and limitations of screening for cancer.
  • If you choose to have screening, the guidelines recommend an annual Specific Antigen () test. Many experts also recommend a digital rectal examination that allows your doctor to feel for abnormalities in the .
  • Researchers are testing new approaches to cancer screening for high-risk people through clinical trials.

Source: Source: NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, , v. 1, 2027.


Other cancers

Because of the possible link between and , experts suggest that people with an mutation speak with their doctor about the pros and cons and costs of testing for and treating . Together, you can consider your personal and family history and any other risk factors when deciding whether testing may be helpful for you.

More research is needed on the link between mutations and other types of cancers. At the moment there are no additional special screening or prevention recommendations. Experts recommend following general population screening guidelines and considering your family history when managing risks for other cancers. National guidelines exist for screening the following cancers:

Stories from the Community

October 15, 2020

Finding Hope on the Other Side of Surgery After Learning of my ATM Mutation

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November 01, 2022

Lynch Syndrome, an ATM Mutation and Issues of Gender Identity and Fertility Access

by Scarlett Shiloh (they/them) Unfortunately, You Have Lynch Syndrome and an ATM Mutation I remember exactly how I felt hearing my genetic counselor say the word “unfortunately.” On March 10, 2022, I found out I inherited Lynch syndrome (I...

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Last updated September 20, 2026