BRAF Genetic Test
Reviewed
Also called: BRAF gene mutation analysis, Melanoma, BRAF V600 mutation, BRAF mutation test, BRAF gene variant test, BRAF tumor test
A BRAF genetic test uses a sample of tumor tissue, bone marrow, or blood to look for changes in a gene called BRAF.
Specimen: Tumor tissue (from biopsy or surgery), bone marrow, or blood
Why this test may be ordered
- To determine if a cancer has a BRAF gene change, which can help predict how fast the cancer may grow
- To guide treatment decisions, such as whether targeted therapy that blocks abnormal BRAF proteins is likely to be effective
- To check for inherited BRAF gene changes when personal or family history suggests a high risk of cancer or a genetic condition
Preparation and collection
If you're having a blood test, you usually don't need any special preparations. Ask your provider about how to prepare for other types of BRAF gene tests.
For solid tumors, the test often uses a sample of cells from the tumor. If surgery or a biopsy isn't possible, you may have a blood test to look for DNA that the tumor has shed in your bloodstream. For blood cancer, a blood test or a bone marrow test may be used. If you're having a BRAF genetic test to check for inherited gene changes, you will usually have a blood test.
The risks of a BRAF gene test depend on how your sample is collected. Talk with your provider about your risks. In general, with a biopsy, you may have soreness, pain, or bleeding where the tissue was removed. A blood test has very little risk. After a bone marrow test, you may feel stiff or sore where the sample was taken. Serious symptoms are very rare, but may include swelling, bleeding at the site, or fever.
Understanding results
Knowing whether your cancer has a changed BRAF gene can help your health care provider choose the most effective treatment for you.
- BRAF gene change found (if you have cancer): You have a change in your BRAF gene, your provider may prescribe medicines that are designed to target the changed BRAF proteins that are making your cancer grow. Limitation: Cancers with changes in the BRAF gene tend to grow more quickly than cancers that don't have this gene change. Next step: You may also need other treatments.
- No BRAF gene change found (if you have cancer): You don't have a change in your BRAF gene, your provider will prescribe another type of treatment for your cancer. Limitation: Changes are also found in several other types of cancer, including colon, thyroid, ovarian, lung, and certain blood cancers. Next step: Talk with your provider about your risks.
- BRAF gene change found (if you don't have cancer): If you don't have cancer and your results show you have a change in your BRAF gene, it does not mean you'll get cancer. Limitation: But, depending on the change, you may have a higher risk of developing cancer. Next step: You may be able to reduce your risk by having more frequent cancer screenings.
- The test only looks for specific BRAF gene changes; it may not detect all possible mutations or variants.
- Results depend on the quality and quantity of the sample; a negative result does not completely rule out a BRAF mutation.
- For individuals without cancer, a detected BRAF change indicates higher likelihood but not a diagnosis of cancer; other factors influence actual risk.
What to do next
If you have an inherited change in your BRAF gene, talk with your provider or a genetic counselor to learn about the risks of passing the change to your children.
- What type of sample was used for my BRAF test, and how might that affect the accuracy of the results?
- Does my test result mean I have a higher risk of passing a BRAF gene change to my children?
- Are there other genetic tests I should consider based on my personal or family health history?
- How often should I have follow-up testing or cancer screenings if my BRAF test shows a change?
- What are the potential benefits and risks of targeted therapy if my cancer has a BRAF mutation?
Evidence source
Source: U.S. National Library of Medicine (MedlinePlus). Practices and reference ranges may differ in your country.