Clinical Information

Assessment for BRAF V600 mutations has clinical utility in that it is a predictor of response to antimutant BRAF therapy. BRAF is a member of the mitogen-activated protein/extracellular signal-regulated (MAP/ERK) kinase pathway, which plays a role in cell proliferation and differentiation. Dysregulation of this pathway is a key factor in tumor progression. Targeted therapies directed to components of this pathway have demonstrated some success with increases both in progression-free and overall survival in patients with certain tumors. Effectiveness of these therapies, however, depends in part on the mutation status of the pathway components.

Malignant melanoma, one of the most aggressive forms of skin cancer, has a high frequency of BRAF mutations. Approximately 44% to 70% of melanoma cases have a BRAF mutation, and of those, approximately 50% to 90% are the V600E mutation. Current data suggest that the efficacy of BRAF-targeted therapies in melanoma is confined to patients with tumors with activating BRAF mutations, such as V600E, which leads to increased activation of the kinase pathway. While this test was designed to evaluate for the V600E alteration, cross-reactivity with other alterations at the V600 codon have been described.

At this time, this test is approved specifically for melanoma tumors. Please refer to BRAFT / BRAF Mutation Analysis (V600E), Tumor for BRAF testing in nonmelanoma tumors.