BRAF V600E mutation-specific antibody, a sensitive diagnostic marker revealing minimal residual disease in hairy cell leukaemia

摘要

The proto-oncogene BRAF, found on chromosome 7q34, encodes a serine/threonine kinase that has a regulatory role in the activation of the mitogen-activated protein kinase (MAPK)/ERK signalling cascade, implicated in cancer induction, maintenance and progression (Ascierto et al, 2012). BRAF is one of the most frequently mutated protein kinase genes in human cancer, with the BRAF V600E mutant (a missense substitution of valine by glutamic acid in a mutational hotspot at ammo acid position 600 of the BRAF protein) commonly present in metastatic melanomas, thyroid carcinoma and colon carcinomas (Cantwell-Dorris et al, 2011).