Identifying BRAF mutations in melanoma
Given the incidence of oncogenic BRAF in various tumor types, a number of diagnostic tools that utilize molecular biology techniques are being developed to detect the BRAFV600E mutation. These techniques include, but are not limited to, real-time polymerase chain reaction and pyrosequencing.33
Traditional methods of testing have included Sanger's dideoxy sequencing (Figure 4). This method is commonly used for detecting the BRAFV600E mutation status, but results may vary because of biopsy specimen contamination from normal tissue. Pyrosequencing measures the fraction of mutant template present and may be more suitable for detecting the mutations when low amounts of the mutant template are present in a biopsy.34,35
Ongoing research is dedicated to improving existing technologies and innovating new diagnostic methods to identify patients that harbor BRAF mutations for effective clinical management.34
Figure 4
Example of an electropherogram from Sanger's sequencing showing a patient's melanoma tumor BRAF codon 600 mutation (AAG/GTG), encoding V600K/WT protein.35
Adapted from Rubenstein et al. J Transl Med. 2010;8:67.