Certain mutations in the BRAF gene in some solid tumours are associated with responses to therapy or the likelihood of familial disease. This is a test for mutations at codon V600 in the BRAF gene only. BRAF plus other genes are included in our full Find It panel and focused panels for colorectal cancer, lung cancer and melanoma.
In metastatic melanoma, the presence of these mutations is associated with increased sensitivity to BRAF and MEK-inhibitor therapy. The absence of such mutations indicates that the patient's tumour is less likely to respond.
In colorectal cancer, presence of a BRAF mutation may be associated with prognosis, and with reduced likelihood of response to targeted therapy with anti-EGFR antibodies. In mismatch-repair deficient colorectal cancers, the absence of a BRAF mutation is associated with an increased probability of the patient having Lynch syndrome, an inherited DNA mismatch-repair deficiency.
This is an assay for non-heritable mutations. It does not raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient.
Analysis of codon 600 of the BRAF gene.
Requesting the test
This test is usually requested by a surgeon, oncologist or the pathologist providing the initial histopathology report. Please use the specific request form (see link below).
Formalin-fixed, paraffin embedded tissue (FFPE) - 15 sections of 4 uM thickness, dried overnight at 37°C onto charged/coated slides.
Please stain the first section with H&E, and label each slide with patient and block identifiers. Label the unstained sections sequentially (slides 2-15). The request should be accompanied by the somatic mutation request form (above) and a copy of the original histopathology report.
10 business days.
For melanoma investigations, this test has a Medicare rebate which, subject to the requirements of the Medicare descriptor being met, may cover all or part of the cost.
The Medicare details, including descriptor and schedule fee, are listed under MBS item 73336.