Pheo and para are caused by inherited genetic mutations more than any other cancer. Genetic testing for pheo and para can help identify at-risk family members.
About 40% of pheo and para cases are linked to 1 of over 20 different genes. For people with metastatic disease, as many as 50% of cases are linked to a gene mutation. Genes associated with pheo and para include:
A gene is a segment of DNA that can be passed down from parents to children. If you have a gene mutation associated with pheo or para, other members of your family might also have that same mutation. Even if you do not have a family history of pheo or para, about 1 in 8 people with a genetic mutation are the first in their family to carry it.
Identifying genetic mutations can help doctors plan treatment. Some genes mean a higher risk of developing a tumor than others, and some genes mean a higher risk that a tumor will be metastatic, or come back after surgery. Knowing if you carry a mutation, and which one you carry, can give doctors valuable information for planning treatment.
Genetic testing can help identify family members who are at risk. Since gene mutations are inherited, testing can help determine if your pheo or para tumor was caused by a mutation that other family members might also have. Depending on the genetic mutation, the lifelong risk of developing a pheo or para tumor could be as high as 80%.
Repeat genetic testing may be required as new discoveries are made. Scientists are researching the genes and mutations that can cause pheo and para, and new mutations continue to be identified. If you received genetic testing many years ago and tested negative, you should ask your doctor whether retesting could reveal new information.
Ask your doctor about getting genetic testing for pheo and para.