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BRAF Genetic Test
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Lab Tests

BRAF Genetic Test

The BRAF genetic test identifies mutations in the BRAF gene, which can help diagnose certain cancers and guide targeted treatment decisions.

What is a BRAF genetic test?

A BRAF genetic test looks for changes (variants or mutations) in the BRAF gene. This gene provides instructions for making a protein that tells cells when to grow and divide. When the gene is mutated, it can produce abnormal proteins that trigger uncontrolled cell growth, leading to cancer.

These mutations are commonly found in melanoma, as well as colon, thyroid, ovarian, lung, and certain blood cancers. Most BRAF mutations are acquired (occurring after birth), though inherited mutations can occur rarely.

What is it used for?

  • Cancer Diagnosis and Treatment: To identify if a cancer is driven by BRAF mutations, which helps providers choose effective targeted treatments that block abnormal proteins.
  • Inherited Risk Assessment: To check for inherited mutations if your family history suggests a high risk for cancer or specific genetic conditions.

Why do I need a BRAF genetic test?

You may need this test if you have a cancer that could be caused by BRAF mutations, as the results help predict how fast the cancer may grow and whether targeted therapy is appropriate. It is also used if your personal or family history indicates a high risk for inherited cancer syndromes.

What happens during a BRAF genetic test?

The collection method depends on the reason for the test:

  • For solid tumors: Samples may be collected via surgery, a biopsy (using a needle or minor surgery), or a "liquid biopsy" (a blood test to look for tumor DNA).
  • For blood cancer: A blood test or bone marrow test may be used.
  • For inherited changes: A standard blood test is typically used.

What do the results mean?

  • If you have cancer: A positive result for a BRAF mutation may allow your provider to prescribe targeted medicines. A negative result means your provider will pursue other treatment options.
  • If you don't have cancer: A positive result for an inherited mutation does not mean you will get cancer, but it may indicate a higher risk, which can be managed through more frequent screenings.

Frequently Asked Questions

Yes, a technique called liquid biopsy can detect circulating tumor DNA (ctDNA) in the blood, which may contain the BRAF mutation. This non-invasive method is increasingly used for monitoring treatment response or when tissue biopsy is difficult or risky. However, tissue biopsy remains the gold standard for initial diagnosis and determining the full genetic profile of the tumor, as liquid biopsies can sometimes yield false negatives if the tumor does not shed enough DNA into the bloodstream.
positive BRAF mutation does not necessarily mean the cancer is less treatable; in fact, it often opens the door to highly effective targeted therapies. While some BRAF-mutated cancers can grow rapidly, the availability of specific inhibitors that target this mutation has significantly improved survival rates and quality of life for many patients. The mutation status is a biomarker for treatment selection rather than a direct indicator of poor prognosis in the modern era of precision medicine.
somatic mutation occurs in the cancer cells themselves after birth and is not inherited; this is the most common type found in cancers like melanoma and colon cancer, and it is used to guide targeted therapy. A germline mutation is present in all cells of the body from birth and can be passed to children; these are rare but may indicate an inherited cancer syndrome, requiring different management strategies for the patient and their family members.
Results typically take one to two weeks, depending on the laboratory and the complexity of the analysis. If a V600E mutation is identified, it indicates that the cancer is likely to respond to BRAF inhibitors, which are targeted drugs that block the abnormal protein. This allows clinicians to start specific therapies that may be more effective and have a different side effect profile than standard chemotherapy or immunotherapy.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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