A pathogenic variant in the PALB2 gene affects the growth and function of a cell. Individuals with a pathogenic variant in the PALB2 gene are at an increased risk for developing breast cancer, ovarian cancer, and pancreatic cancer. Individuals with pathogenic variants in both PALB2 genes (one inherited from each parent) are diagnosed with Fanconi anemia (FA), a childhood onset genetic condition that is characterized by progressive bone marrow failure, physical and developmental abnormalities, and an increased risk for certain types of cancers.
Cancer risks associated with PALB2 variants include:
Cancer Screening and Risk Reduction for PALB2 Variants
Understanding your risk for developing cancer as well as the options available to you for prevention, early detection, and treatment can help improve your quality of life. Clinical management guidelines for surveillance and risk-reduction strategies differ from person to person and should involve a shared decision between you and your healthcare provider who takes into account risk factors specific to you. Recommendations may include:
- Annual screening mammogram and breast MRI (beginning at age 30)
- Consideration of surgery to remove breast tissue (mastectomy)
Men and Women
- Pancreatic cancer screening (if a family history of pancreatic cancer exists)
Treating PALB2 Variants at UT Health Austin
Our genetic counselors help patients understand the benefits, limitations, and risks associated with undergoing genetic testing as well as how genetic testing affects healthcare management so that they can make informed decisions about their health. When discussing test results, our genetic counselors will work with you to develop a cancer screening plan specific to your needs.
Through our Multidisciplinary Case Conferences, we collaborate with our colleagues at The University of Texas at Austin and the Dell Medical School to stay informed of the latest research, diagnostic, and surveillance techniques, and we partner with existing providers in the Austin area to ensure we can successfully connect you with services recommended as part of your personalized cancer screening plan. We also provide you with community resources and help coordinate high-risk surveillance so that you have support every step of the way.
Care Team Approach
At UT Health Austin, we take a multidisciplinary approach to your care. This means you will benefit from the expertise of multiple specialists across a variety of disciplines caring for you in one place to avoid having to schedule multiple appointments with providers at locations all over the city. The Hereditary Cancer Screening and Risk Reduction care team includes clinical genetic counselors, medical oncologists, surgical oncologists, nurses, advanced practice providers, dietitians, social workers, and more as well as other members of the CaLM Care Team, who work together to help you get back to the things in your life that matter most to you. We also work alongside specialists across Cancer Fertility Preservation, Digestive Health, Women’s Health, Primary Care, Dermatology, and more.