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 looks for changes (mutations) in the BRAF gene using a sample of tumor tissue, bone marrow, or blood. The BRAF gene provides instructions for a protein that controls cell growth. Certain changes can make the protein too active, leading to uncontrolled cell growth and cancer. The test helps guide cancer treatment and, in rare cases, assess inherited cancer risk.
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 are having a blood test, you usually do not need any special preparations. Ask your healthcare provider about how to prepare for other types of BRAF gene tests (e.g., biopsy or bone marrow collection).
The collection method depends on the type of cancer and the reason for testing. For solid tumors, a sample of tumor tissue is often taken during surgery or a biopsy (using a hollow needle or minor surgery). If surgery or biopsy is not possible, a blood test (liquid biopsy) may be used to detect tumor DNA in the bloodstream. For blood cancers, a blood test or a bone marrow sample (taken from the back of the hip bone) may be used. For inherited gene changes, a blood test is usually performed.
Risks depend on how the sample is collected. With a biopsy, you may have soreness, pain, or bleeding where the tissue was removed. A blood test has very little risk; you may have slight pain or bruising at the needle site, but most symptoms go away quickly. After a bone marrow test, you may feel stiff or sore where the sample was taken, which usually goes away in a few days. Serious symptoms are very rare but may include swelling, bleeding at the site, or fever. Talk with your provider about your specific risks.
Understanding results
Your BRAF genetic test results will show whether a change (mutation) in the BRAF gene was found in your sample. The interpretation depends on whether you have cancer and the specific gene change detected. Your healthcare provider will explain what your results mean for your situation.
- BRAF gene change detected: A change in the BRAF gene was found. If you have cancer, this may mean your cancer has a BRAF mutation that could be targeted with specific medicines that block the abnormal BRAF protein. If you do not have cancer, this result indicates a higher likelihood of developing certain cancers (e.g., melanoma) or a genetic condition, but it does not mean you will definitely get cancer. Limitation: The test detects only the BRAF mutations it is designed to look for; other rare or unknown mutations may not be identified. The presence of a BRAF change does not confirm a diagnosis of cancer or predict the exact course of the disease. Next step: If you have cancer, your provider may prescribe targeted therapy medicines that act on the abnormal BRAF protein. You may also need other treatments. If you do not have cancer, discuss your cancer risk and screening options (e.g., more frequent skin exams) with your provider or a genetic counselor.
- No BRAF gene change detected: No change in the BRAF gene was found in the sample tested. If you have cancer, this means your cancer is unlikely to be driven by a BRAF mutation, so targeted BRAF therapy would not be appropriate. If you were tested for inherited risk, this result suggests you do not have the specific BRAF changes tested for. Limitation: A negative result does not rule out the possibility of other gene changes or other causes of cancer. The test may not detect all types of BRAF mutations, and sample quality or quantity can affect results. Next step: If you have cancer, your provider will recommend other treatments based on your cancer type and other test results. If you were tested for inherited risk, your provider or a genetic counselor can help you understand your residual risk and whether further testing is needed.
- 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
Your healthcare provider will review your BRAF test results along with your medical history, cancer type, and other test findings to determine the best course of action. If you have questions about your results or treatment options, discuss them with your provider or a genetic counselor.
- 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?