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.
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.
Cells, genes and signaling, part 2
Genetics Home Reference:BRAF gene
Nature – Modern pathology (technical review article)
Last Review Date: March 25, 2021