The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.
This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.
Testing for SDHAF2 gene mutations with the MyRisk® Hereditary Cancer Test with RiskScore® provides critical insights to patients and providers about potential hereditary cancer risk. Identifying a SDHAF2 gene mutation can help clarify whether a patient is at increased risk for certain cancers and guide proactive, personalized care planning. With definitive answers from the MyRisk Test, healthcare providers can better tailor screening, prevention, and management strategies, while patients gain clarity and confidence about their hereditary cancer risk. In addition, understanding a SDHAF2 gene mutation allows family members to consider their own hereditary cancer risk, supporting informed decision-making and potentially life-saving early interventions. Learn more about the MyRisk® with RiskScore® Hereditary Cancer Test.
The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the SDHAF2 gene.
This patient's relatives are at risk for carrying the same mutation(s) and associated cancer risks as this patient. Cancer risks for females and males who have this/these mutation(s) are provided below.
Family members should talk to a healthcare provider about genetic testing. Close relatives such as parents, children, brothers and sisters have the highest chance of having the same mutation(s) as this patient. Other more distant relatives such as cousins, aunts, uncles, and grandparents also have a chance of carrying the same mutation(s). Testing of at-risk relatives can identify those family members with the same mutation(s) who may benefit from surveillance and early intervention.
It is appropriate to offer genetic counseling to individuals with hereditary PPGL syndrome who are of reproductive age to discuss reproductive risks and options. There are additional considerations before and during pregnancy for individuals with hereditary PPGL syndrome.2
The SDHAF2 gene shows a parent of origin effect. In most cases, only children who inherit the SDHAF2 gene mutation from their male parent are at increased risk to develop the disease manifestations associated with hereditary PPGL syndrome. However, it is not yet certain that there is no risk when the SDHAF2 gene mutation is inherited from the female parent.1, 2, 4
Since paternally inherited SDHAF2 mutations carry a risk for complications in children and some screenings are recommended to begin as early as age 10 years, consideration should be given to mutation testing in childhood for offspring of male SDHAF2 mutation carriers. Offspring of female SDHAF2 mutation carriers can defer predictive testing until age 18.1, 2