Beyond the BRAFV600E hotspot - Biology and clinical implications of rare BRAF gene mutations in melanoma patients

Abstract

BRAF mutations can be found in approximately 50% of melanomas, whereas the most common BRAF mutation is the substitution of a valine residue at codon 600 to glutamic acid. BRAF^V600E occurs in up to 95% of all melanoma cases and can be successfully blocked by using a combination of BRAF- and MEK-inhibitors. Due to the wider availability of next-generation sequencing, more non-V600 BRAF mutations are emerging, and the clinical implications of these mutations are widely unknown. In this review, we will discuss the biology of the MAPK-pathway and its different types of BRAF mutations as well as their effect on MEK activation. Current literature will be reviewed including in-vitro data, case reports and case series.

This article is protected by copyright. All rights reserved.

http://ift.tt/2n4qJ2B