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BRAF Testing For Melanoma: Types, Procedure & Results



Melanoma is a type of skin cancer. It has become a significant global public health concern. The American Cancer Society predicts that approximately 97,610 new cases of Melanoma will be diagnosed in the United States in 2023, with more men than women affected. Early identification and effective management of this disease are crucial in improving the survival rates of people with Melanoma.

In 2020, around 324,635 individuals worldwide were identified as diagnosed with Melanoma. A promising approach that has recently emerged for better diagnosis and treatment of Melanoma is BRAF testing. 

This article will provide an overview of melanoma BRAF testing and explain its importance in clinical practice.

BRAF Mutation and Melanoma

Genes are fundamental building blocks of heredity, transmitted from parent to child through biological means. These genes are made of DNA. They carry vital information on protein synthesis and body function. When a gene in an individual undergoes a mutation, it may malfunction. 

One example of such a gene is BRAF. It produces a protein that regulates cell growth. Therefore, if this gene undergoes a mutation, it may lead to the uncontrolled growth of cells. In the case of Melanoma, such a mutation may cause cancer to increase quicker. BRAF mutations typically arise either due to environmental causes or as a result of mistakes that occur during cell division. Approximately 50% of melanomas are characterized by mutations in the BRAF gene acquired over time.

What is Melanoma BRAF Testing?

BRAF testing is done to detect genetic mutations or changes. The BRAF gene plays a crucial role in the division and growth of cells. The most prevalent mutation is the V600E mutation. This leads to the activation of BRAF kinase. It is a protein promoting the survival and growth of cancerous cells.

BRAF testing for Melanoma is a type of molecular diagnostic test. It detects the V600E mutation in the BRAF gene. It is typically carried out on a biopsy sample of melanoma tissue. Test outcomes can guide healthcare professionals in determining suitable therapy for the patient.

Common Types of Melanoma BRAF Testing

  • Digital PCR-Based Test: This is the most commonly used method for melanoma BRAF testing. The technique involves amplifying the DNA from the biopsy sample using PCR and then detecting the presence of V600E mutation using sequencing or other methods.
  • Immunohistochemistry: The test involves antibodies to identify the existence of the BRAF protein in melanoma tissue. Although IHC does not directly detect the V600E mutation, it can display the presence of the BRAF protein, which may be susceptible to BRAF inhibitors.
  • Liquid Biopsy: A liquid biopsy is a medical examination to detect circulating tumour DNA (ctDNA) in the patient's bloodstream. This type of test is considered non-invasive. It can be used to keep track of the effectiveness of a treatment regimen and identify instances of drug resistance. In particular, it may help monitor the progression of Melanoma in individuals with V600E mutations.

How is Melanoma BRAF Testing Performed?

BRAF testing for melanoma is typically done on a biopsy sample from the melanoma tissue and then processed in the lab to extract DNA. The polymerase chain reaction amplifies the extracted DNA. The sample is then examined to identify the V600E mutation using various techniques, including sequencing, RFLP, and allele-specific PCR.

When Do Doctors Recommend Melanoma BRAF Testing?

A person diagnosed with melanoma or certain other cancers may be advised to undergo BRAF testing by a doctor. This is done to detect whether the cancer cells contain a BRAF mutation and to determine the most effective treatment plan. 

Additionally, a BRAF test may be recommended for individuals with a family history of cancer to check if they have a high risk of developing the disease. It is important to note that a BRAF mutation does not necessarily guarantee the development of cancer but indicates a heightened risk of certain types of cancer.

Importance of Melanoma BRAF Testing

BRAF testing for Melanoma offers several clinical advantages.

  • It aids physicians in making an accurate diagnosis of the disease. The detection of the V600E mutation is highly specific to Melanoma, and its identification can confirm the patient's diagnosis.
  • The test results can provide prognostic details about the patient's condition. Research has shown that individuals with the V600E mutation tend to have a poorer prognosis than those without.
  • The examination outcomes can provide a direction for the decisions related to the treatment. The target for a specific class of drugs, called BRAF inhibitors, is the V600E mutation. These inhibitors are competent in impeding the activity of the BRAF kinase with the mutation, thus stopping the proliferation of cancer cells. Thus, individuals with the V600E mutation may benefit from undergoing treatment through BRAF inhibitors.

Results of Melanoma BRAF testing

If you are diagnosed with melanoma or any other type of cancer and your genetic test results reveal a BRAF mutation, your doctor will prescribe medications specifically designed to target the mutation. 

On the other hand, if your test results show that you don't have this mutation, different types of medications will be prescribed to treat your cancer. However, if you have not been diagnosed with cancer, but your genetic test results indicate a BRAF mutation, it doesn't necessarily mean you have cancer. Still, it does put you at a higher risk of developing the disease.


BRAF testing for Melanoma is a highly beneficial tool for diagnosing and treating the disease. By detecting the V600E mutation, one can accurately confirm the diagnosis of Melanoma, gain insight into the expected outcome, and make informed decisions about treatment options. The diagnostic process has become much simpler for individuals thanks to Metropolis labs and services.

By choosing Metropolis Healthcare services for melanoma BRAF testing, patients and healthcare providers can benefit from the following:

  • Advanced testing techniques that provide expedited and precise test results.
  • Metropolis has a team of experienced pathologists and technicians fully committed to delivering top-notch diagnostic services.
  • They offer a comprehensive range of testing services for Melanoma, ensuring that patients receive the most appropriate testing.

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