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Beyond the BRAF V 600E hotspot: biology and clinical implications of rare BRAF gene mutations in melanoma patients
Author(s) -
Richtig G.,
Hoeller C.,
Kashofer K.,
Aigelsreiter A.,
Heinemann A.,
Kwong L.N.,
Pichler M.,
Richtig E.
Publication year - 2017
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.15436
Subject(s) - melanoma , cancer research , v600e , gene , mutation , mapk/erk pathway , biology , genetics , medicine , bioinformatics , signal transduction
Summary BRAF gene mutations can be found in approximately 50% of melanomas, but the most common BRAF mutation leads to substitution at residue 600 of the protein, from valine 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. The wider availability of next‐generation sequencing is revealing more non‐V600 BRAF mutations, and the clinical implications of these mutations are widely unknown. In this review, we will discuss the biology of the MAPK pathway and the 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.