Beyond the BRAFV600E hotspot: biology and clinical implications of rare BRAF gene mutations in melanoma patients.

@article{Richtig2017BeyondTB,
  title={Beyond the BRAFV600E hotspot: biology and clinical implications of rare BRAF gene mutations in melanoma patients.},
  author={Georg Richtig and Christoph Hoeller and Karl Kashofer and Ariane Aigelsreiter and Akos Heinemann and Lawrence N. Kwong and Martin Felix Pichler and Erika Richtig},
  journal={The British journal of dermatology},
  year={2017},
  volume={177 4},
  pages={
          936-944
        }
}
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… CONTINUE READING
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