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Richtig, G; Hoeller, C; Kashofer, K; Aigelsreiter, A; Heinemann, A; Kwong, LN; Pichler, M; Richtig, E.
Beyond the BRAFV600E hotspot: biology and clinical implications of rare BRAF gene mutations in melanoma patients.
Br J Dermatol. 2017; 177(4):936-944
Web of Science PubMed FullText FullText_MUG

 

Autor/innen der Med Uni Graz:
Aigelsreiter Ariane
Heinemann Akos
Kashofer Karl
Pichler Martin
Richtig Erika
Richtig Georg
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Abstract:
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. BRAFV600E 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. © 2017 British Association of Dermatologists.
Find related publications in this database (using NLM MeSH Indexing)
Humans -
MAP Kinase Kinase Kinases - genetics
MAP Kinase Signaling System - genetics
MAP Kinase Signaling System - physiology
Melanoma - genetics
Mutation - genetics
Neoplasm Proteins - genetics
Oncogene Proteins, Fusion - genetics
Proto-Oncogene Proteins B-raf - genetics
Skin Neoplasms - genetics
ras Proteins - genetics

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