This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene.


Assay type: Deep/Sanger Sequencing; High resolution melting
What is analyzed: Mutational analysis of exons 11 and 15
Platform: MiSeq (Illumina), LightCycler 480 (Roche), Genetic Analyzer 3500 (ABI)
Kit/antibody: High Resolution Melting Master (Roche); Big Dye Terminator v1.1 Cycle Sequencing Kit (ABI)
Tissue Type: Lung carcinoma, Melanoma
Required material: FFPE tissue; DNA

Assay type: Light-Cycler PCR
What is analyzed: Gene mutation V600E
Platform: cobas z 480 Analyzer (Roche)
Kit: cobasĀ® 4800 BRAF V600 Mutation Test Kit (Roche)
Tissue Type: Solid tumors
Required material: FFPE tissue
Reference: Multisite analytic performance studies of a real-time polymerase chain reaction assay for the detection of BRAF V600E mutations in formalin-fixed paraffin-embedded tissue specimens of malignant melanoma. Arch Pathol Lab Med. 136(11):1385-1391