At a glance

Also known as

BRAF screen

Why get tested?

This test is performed most commonly on people with metastatic melanoma. The tumour tissue is tested for mutations at codon 600 in the BRAF gene. People who have mutations at this site in the tumour tissue are more likely to respond to the specific BRAF inhibitors dabrafenib or vemurafenib and in Australia can access these drugs under the Pharmaceutical Benefits Scheme.

When to get tested?
This test is usually requested by an oncologist, surgeon or clinical geneticist for patients with metastatic cutaneous melanoma to see whether they may benefit from targeted therapy with dabrafenib or vemurafenib.
Sample required?
Melanoma tumour tissue taken by a surgical biopsy procedure.

What is being tested?

How is the sample collected for testing?
A surgeon will remove a sample of the tumour tissue.
Is any test preparation needed to ensure the quality of the sample?
None required.

The Test

How is it used?

In patients with melanoma, this test is primarily used in people with late stage metastatic disease, where the cancer cells have already spread widely, to determine suitability for BRAF-targeted therapy such as dabrafenib or vemurafenib. In patients with local early stage melanoma, surgical excision remains the treatment of choice and has a high likelihood of success if it is caught before metastases have travelled away from the primary tumour site.

When is it requested?

The test is requested predominantly in people whose melanoma has spread to other sites (metastatic melanoma) and who can no longer be treated with surgery alone.

Less commonly, this test may be used to guide the management of other non-melanoma cancers, such as thyroid, colorectal, non-small cell lung cancer and a type of blood cancer called hairy cell leukaemia.

What does the test result mean?

Around 40 – 60% of melanomas have a mutation at codon 600 and up to 90% of these are a specific mutation called V600E. The test determines whether there is a mutation at this site. BRAF inhibitor drugs such as dabrafenib or vemurafenib are only useful in people whose tumour does carry a BRAF V600 mutation.

Is there anything else I should know?

BRAF inhibitor drugs (often used in combination with MEK inhibitor drugs) bring about a response in most people with late stage melanoma disease, they reduce symptoms and disease progression for a variable period, generally less than a year.

Common Questions

How common is the BRAF V600 mutation?

40-60% of people with melanoma will have a BRAF mutation. The most common mutation is called V600E and this is present in 80-90% of people who have mutations. The second most common mutation is V600K (~10-20%). There are other rarer mutations that can be present in BRAF including non-V600 mutations and the clinical significance of all of these has not yet been determined.

If I have the V600E mutation, should my family members be tested?

Not when this test is performed in cancer tissue. This and related mutations are known as somatic mutations, and are not present in a person’s germline DNA. These are mutations acquired during a person's lifetime and they cannot be inherited.

Last Review Date: September 10, 2018