Also known as: BRAF Gene Test« Back to test list
Certain mutations in the BRAF gene in some solid tumours are associated with responses to therapy or the likelihood of familial disease.
In metastatic melanoma, the presence of these mutations is associated with increased sensitivity to BRAF-inhibitor therapy. The absence of such mutations indicates that the patient’s tumour is less likely to respond.
In colorectal cancer, 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.
Pyrosequencing analysis of codon 600 of the BRAF gene.
This test is usually requested by an oncologist, surgeon or clinical geneticist. If ordered by a pathologist, the Medicare rebate may still apply. Please use the specific request form (see link below).
Formalin fixed, paraffin-embedded tissue (FFPE) – 10 sections of 4 uM thickness, dried overnight at 37 degrees 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 2D10). The request should be accompanied by completed Somatic Mutation Test Request Form and a copy of the original histopathology report.