BRAF gene: From human cancers to developmental syndromes

Saudi J Biol Sci. 2015 Jul;22(4):359-73. doi: 10.1016/j.sjbs.2014.10.002. Epub 2014 Oct 23.

Abstract

The BRAF gene encodes for a serine/threonine protein kinase that participates in the MAPK/ERK signalling pathway and plays a vital role in cancers and developmental syndromes (RASopathies). The current review discusses the clinical significance of the BRAF gene and other members of RAS/RAF cascade in human cancers and RAS/MAPK syndromes, and focuses the molecular basis and clinical genetics of BRAF to better understand its parallel involvement in both tumourigenesis and RAS/MAPK syndromes-Noonan syndrome, cardio-facio-cutaneous syndrome and LEOPARD syndrome.

Keywords: BRAF gene; Cancers; Developmental syndromes; RAS–RAF overactivation.

Publication types

  • Review