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What You Should Know About PALB2 Pathogenic/Likely Pathogenic Variants
Individuals with a pathogenic/likely pathogenic (P/LP) variant in the PALB2 gene have an increased risk for cancers of the breast, ovary, and pancreas.
UT Southwestern Medical Center is home to one of the largest hereditary cancer programs in the country, providing expert care for individuals with PALB2 P/LP variants.
Cancer Risks Associated with a PALB2 Mutation
Females with a PALB2 P/LP variant have up to a 55% lifetime risk for breast cancer and males have up to a 10% lifetime risk for breast cancer. Females with the variant have up to a 5% lifetime risk for ovarian cancer. Males and females with the variant have up to a 5% risk for pancreatic cancer.
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.
Female 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 and annual breast magnetic resonance imaging (MRI), with and without contrast, starting at age 30
- Consideration of risk-reducing mastectomy, depending on personal risk factors for cancer and family history of cancer
Ovarian Cancer
- Gynecologic oncology specialists work with patients to determine appropriate risk management for hereditary gynecologic cancer.
- Our specialists follow NCCN recommendations, including
- Consideration of surgery to remove the ovaries and fallopian tubes
Other Cancers
- UT Southwestern experts from other specialties, such as internal medicine or surgical oncology, may also be an important part of the care team.
- Additional surveillance or management recommendations might include:
- Annual abdominal MRI and/or upper endoscopy for pancreatic cancer surveillance
- Additional screenings or earlier ages of screenings, depending on personal risk factors and family history
Risks to Family Members
P/LP variants in the PALB2 gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with a PALB2 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 PALB2 P/LP variant, and both males and females can pass it on to their children.