Single nucleotide mutation of the BRAF V600 gene leads to increased activation of the MAP kinase cascade, resulting in proliferation and dedifferentiation. However, the BRAF gene mutation alone is not sufficient to induce a malignant transformation. Its role lies more in the progression of the disease than in the initiation.
The occurrence of the BRAF V600E mutation was observed, for example, in melanoma, Langerhans’ ischemia of the pancreas, or ovarian and colon cancer. BRAF gene mutations are also associated with several tumors (malignant melanoma, non-Hodgkin’s lymphoma, thyroid papillary carcinoma, non-small cell lung carcinoma and lung adenocarcinoma). Before initiating treatment with vemurafenib or dabrafenib, patients should be confirmed with the validated test of the V600 mutation of the BRAF gene. Vemurafenib is not suitable for patients with malignant melanoma and a wild type variant of the BRAF gene.
Detected mutations in gene BRAF:
|Change of AMK
||Change of nucleotide
Parameters of the diagnostic kit
- qPCR assay + Master Mix
- LOD 0.2% mutated BRAF on WT background at 100,000 copies in reaction
- sample concentration 10-80 ng/µl
- positive and negative controls are included
- FAM channel detection
- identical amplification profile as gb HEMO, gb GENETIC, gb PHARM kits