This information explains how having a mutation in the RET gene may affect you and your family.
In this resource, the word “family” means people related to you by blood. They’re not related to you through marriage or adoption. We also call these family members your blood relatives.
Your RET gene normally helps prevent cancers. A mutation in this gene causes it to stop working like it should.
It is important to understand that having a mutation in this gene does not mean you will definitely develop cancer. It means that you have an increased risk of developing certain types of cancers. The type of cancer can vary among people who have mutations in this gene, even within the same family.
What is my cancer risk if I have a RET mutation?
If you have a mutation in the RET gene, this means you have a condition called Multiple Endocrine Neoplasia type 2 (MEN 2). MEN 2 increases your risk for certain types of cancers, including medullary thyroid cancer (a specific type of thyroid cancer).
MEN 2 may also increase your risk for:
- Pheochromocytoma (tumor of the adrenal glands, which is usually non-cancerous)
- Parathyroid adenoma (growths of tissue) or hyperplasia (increase in the number of cells in a tissue or organ)
There are 3 types of MEN 2, depending on the specific mutation a person has and their personal and family history. Each type may have different risks linked to them.
As we learn more about these mutations, we may learn they increase the risk for other types of cancers. Your genetic counselor will give you more information about your cancer risk if you have a mutation.
To learn more, read Other Hereditary Cancer Syndromes.
What can I do about my cancer risk if I have a RET mutation?
Your genetic counselor will review your results. They will talk with you about what cancer your mutation is linked to. As we research these mutations, we may learn they raise the risk for other types of cancers.
Your genetic counselor will also review your personal and family history of cancer and give you cancer screening recommendations. They may recommend you start having cancer screenings at a younger age or have them more often than most people. They may also suggest you get specialized screenings to help find cancer as early as possible.
Some examples of these cancer screenings include:
- Having an ultrasound of your thyroid gland to check for thyroid cancer.
- Having blood tests to check for signs of cancer in your thyroid, parathyroid, and adrenal gland.
Your genetic counselor may talk with you about having surgery to remove your thyroid to prevent thyroid cancer. They will also talk with you about whether there are any other screening or prevention options that may be right for you.
What does a RET mutation mean for my blood relatives?
If you have a mutation, your biological parents, siblings, and children each have a 50% chance of having the same mutation. Your distant family members may also be at risk for having the same mutation.
Males and females have an equal chance of passing down a mutation in their family. You only need to inherit a mutation from one parent to have an increased risk for cancer.
Your genetic counselor will review your family history and talk with you about whether they recommend genetic testing for your blood relatives.
What happens if I do not have a mutation?
If you do not have a mutation or if we find a variant of uncertain significance (VUS), your genetic counselor will review your personal and family history of cancer. They’ll talk with you about the general cancer screening guidelines you should follow.
A VUS is a change in a gene, but we don’t yet know if it is linked with a higher risk for cancer. Most VUS are eventually found to be normal changes that do not affect your health.