BFRA gene mutation study – BRAF is a serine / threonine kinase that functions on the Ras-Raf-MEK-MEPK pathway. This time normally regulates cell proliferation and survival under the control of growth factors and hormones. Mutations in the BRAF gene are related to the development of carcinoma. The most common alteration in the BRAF gene is the V600E. The BRAF gene mutation test is positive (ie there is a mutation) if the V600E is found in the BRAF gene.
BRAF gene mutation testing is emerging as an important tool for diagnosing, predicting and treating patients in response to targeted therapy for multiple cancers.
Some inherited BRAF mutations cause birth defects.
The identification of BRAF mutations in various tumor types, as well as the elucidation of their role as mutations of the gene, results in the development of various ATP-competitive RAF inhibitors.