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What You Should Know About CHEK2 Pathogenic/Likely Pathogenic Variants
Individuals with a pathogenic/likely pathogenic (P/LP) variant in the CHEK2 gene have an increased risk for cancers of the breast and prostate. Our knowledge of CHEK2 and the related cancer risk primarily comes from data on one specific pathogenic variant seen predominantly in individuals with Northern European ancestry (this variant is called c.1100del). P/LP variants in other locations of the CHEK2 gene may cause slightly different risks for cancer than those listed below.
Cancer Risks Associated with a CHEK2 Mutation
Females with a CHEK2 P/LP variant have up to a 30% lifetime risk for breast cancer. Males with a CHEK2 P/LP variant have an increased risk for prostate cancer, but true lifetime risks are unknown. There may also be an increased risk for kidney or thyroid cancer, but the lifetime risks for these cancers are unknown.
Managing Cancer Risks
UT Southwestern’s Genetic Cancer Prevention Clinic (GCPC) can help 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
- Our breast specialists work with patients to determine appropriate surveillance and risk management.
- Our specialists follow National Comprehensive Cancer Network (NCCN) recommendations, including:
- Annual mammogram beginning at age 40 and annual breast 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
Other Cancers
- UT Southwestern experts in internal medicine, surgical oncology, and other specialties 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
- Consideration of additional screenings or starting screenings at a younger age, depending on personal risk factors and family history
Risks to Family Members
P/LP variants in the CHEK2 gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with a CHEK2 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 CHEK2 P/LP variant, and both males and females can pass it on to their children.