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ATM: Risk Management
People with an ATM mutation have options for lowering their cancer risk. Learn about the screening and prevention guidelines for people with a mutation in their ATM gene.

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Risk Management for People with Inherited Mutations

People with mutations have options for managing their increased cancer risk. Experts at the National Comprehensive Cancer Network (NCCN) created guidelines for people with an 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 mutation receive education on the signs and symptoms of ATM-related cancers. NCCN guidelines for specific cancers are listed below. 

 


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


Breast cancer risk management

Beginning Age

Recommendation

Additional Information

25

Learn to be aware of changes in your breasts.

Based on NCCN guidelines for women of average risk. 

25

Breast exam by doctor every 1-3 years.

Based on NCCN guidelines for women of average risk. 

30-35

Discuss the benefits, risks and costs of yearly breast MRI with and without contrast with your doctor. 

If MRI is not available, mammogram screening should begin at age 25. 

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

Yearly mammogram.

No set age

More research is needed to show whether people with inherited ATM 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. 

No set age

Discuss 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.

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 3 2024


Pancreatic cancer risk management

Types of pancreatic cancer screening tests

There are two tests that are used to look 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 ATM mutation carriers with a first- or second- degree relative with pancreatic cancer

  • 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.

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 ultrasound and a CA-125 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 ATM mutations benefit from risk-reducing surgery to remove their ovaries and fallopian tubes. 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.

Before age 50

Researchers are studying whether the removal of the fallopian tubes only (salpingectomy), while delaying oophorectomy 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 salpingectomy lowers the risk for ovarian cancer in high-risk people. 
  • Salpingectomy, followed by delayed oophorectomy requires two separate surgeries.

No set age

Oral contraceptives (birth control pills) have been shown to lower the risk for ovarian cancer in people with BRCA1 mutations. Have a discussion with your doctor about the benefits and risks of oral contraceptives for lowering ovarian cancer risk. 

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

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 3 2024


cancer risk management

cancer risk

Research suggests that  mutations may also increase the risk for cancer.  More research is needed to better define the exact risk for people with an  mutation. 

Researchers are testing new approaches to cancer screening and prevention for high-risk people through clinical trials

 

cancer guidelines

Beginning Age

Recommendation

40

  • Have a conversation with your doctor about the potential benefits, risks, costs and limitations of screening for prostate cancer. 
  • If you choose to have screening, the guidelines recommend an annual digital rectal exam and Prostate Specific Antigen (PSA) test. 

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 3 2024


Other cancers

There has not been enough research to show a benefit from screening and prevention for other cancers in people who have an mutation. For this reason, experts recommend managing these risks based on your family history. Cancer screening and prevention research studies may be available.

Last updated June 21, 2024