BRAF Mutations Detection Kit
Somatic mutations in BRAF gene have been found in cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, papillary thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. The BRAF gene encodes a serine/threonine protein kinase, which plays a role in regulating the MAP Kinase/ERK signaling pathways, affecting cell growth and proliferation. The most common mutations in BRAF occur in codon 600, where an amino acid substitution in the activation segment of the kinase domain creates a constitutively active form of the protein. BRAF mutations are generally found in tumors that are wild-type for KRAS, NRAS, and EGFR.
The Test
The table below lists the mutations detected by this kit and the approximate frequencies found in various cancers.
Mutation Name | Nucleotide Change | Amino Acid Change | Frequency |
---|---|---|---|
V600E | c.1799T>A | Valine (V) to glutamic acid (E) | 70-90% |
V600K | c.1798_1799GT>AA | Valine (V) to lysine acid (K) | 10-15% |
V600D | c.1799_1800TG>AT | Valine (V) to aspartic acid (D) | (<5%) |
V600R | c.1798_1799GT>AG | Valine (V) to arginine (R) | (<5%) |
V600M | c.1798G>A | Valine (V) to methionine (M) | (<1%) |
V600G | c.1799T>G | Valine (V) to Glycine(G) | (<1%) |