BRAF V600 mutation
The V600E mutation in the BRAF gene, which is located on the long arm of chromosome 7, replaces at residue 600, a valine molecule for a glutamic acid molecule, V600E (1799 G> A). The resulting protein from this genetic alteration has 10 times more activity than the same protein in normal conditions. The V600E mutation is detected in cutaneous melanona (55%), colorectal cancer (CRC) (15%), papillary thyroid carcinoma (40%), ovarian cancer (30%) and small cell lung cancer (NSCLC) (3%).
Among the latest advances in the treatment of malignant melanoma, it is a specific inhibitor of the mutated form of the BRAF V600 protein, Vemurafenib, which has been approved by both regulatory agencies (FDA and EMA) based on the results obtained in several clinical trials.
The analysis of this mutation by qPCR can detect the BRAF V600E mutation (1799 G> A), with a detection limit < 5%, ensuring accurate and reliable treatment decisions in melanoma, and allows discriminating CRC origin.
