Figure 1 | British Journal of Cancer

Figure 1

From: Molecular characterisation of cutaneous melanoma: creating a framework for targeted and immune therapies

Figure 1

MAPK pathway genetic alterations that constitute the genomic subtypes. Approximate frequency of single-nucleotide variants (SNVs) of SMGs in BRAF, RAS and NF1 are shown. In the latest TCGA study, the estimate of NRAS SNVs in melanomas is ∼30%, with the majority encoding amino-acid Q61 changes, although low-frequency SNVs encoding for alterations in amino acids G12, G13 and Q61 in HRAS and KRAS were also found in ∼2% of samples. Significant amplification of the 4q12 amplicon as well as recurrent KIT mutations were found more frequently in melanomas lacking MAPK mutations (Triple WT). Of note, NF1 is either mutated or deleted (DEL) in ∼55% of desmoplastic melanomas, where no hotspot BRAF and few hotspot RAS mutations have been reported.

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