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What You Should Know About ATM Pathogenic/Likely Pathogenic Variants
Individuals with a pathogenic/likely pathogenic (P/LP) variant in the ATM gene have an increased risk for cancers of the breast, ovary, pancreas, and colon.
UT Southwestern Medical Center has one of the largest hereditary cancer programs in the country, and our specialists are experienced in working with individuals who have ATM P/LP variants.
Cancer Risks Associated with an ATM Mutation
Females with an ATM P/LP variant have up to a 25% lifetime risk for breast cancer and up to a 5% lifetime risk for ovarian cancer. Males and females with the variant have up to a 10% risk for pancreatic cancer and a 10% risk for colorectal cancer. Males might also have an increased risk for prostate cancer, but the lifetime risk for this cancer is unknown.
Managing Cancer Risks
UT Southwestern’s Genetic Cancer Prevention Clinic (GCPC) helps ensure people are receiving appropriate cancer surveillance and management based on their genetic testing results. For more information about the GCPC or to request an appointment, please call us at 214-645-2563.
Breast Cancer
- Breast specialists work with patients to determine appropriate surveillance and risk management.
- Our specialists follow recommendations from the National Comprehensive Cancer Network (NCCN), including:
- Annual mammogram beginning at age 40
- Annual breast magnetic resonance imaging (MRI) with contrast starting at age 30-35
- Consideration of risk-reducing mastectomy, depending on personal risk factors for cancer and family history of cancer
Pancreatic Cancer
- Specialists at the UT Southwestern Pancreatic Cancer Prevention Clinic work with patients to determine appropriate surveillance and risk management for hereditary pancreatic cancer.
- Our specialists help to create a personalized screening plan, considering NCCN recommendations, including:
- Annual abdominal MRI and/or upper endoscopy starting at age 50
Other Cancers
- UT Southwestern experts from other specialties, such as internal medicine, gastroenterology, or gynecologic oncology, may also be an important part of the care team.
- Additional surveillance or management recommendations might include:
- Consideration of prostate cancer screening, starting at age 40
- Additional screenings or earlier ages of screenings, depending on personal risk factors and family history
Risks to Family Members
P/LP variants in the ATM gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with an ATM P/LP variant have a 1 in 2 (or 50%) chance of having the P/LP variant as well. Both males and females can inherit a familial ATM P/LP variant, and both males and females can pass it on to their children.