Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

In melanoma tumors with IRF3/BCL2L12 promoter mutations, TP53 was significantly downregulated on the mRNA level and CDKN1A showed a trend toward downregulation ( Figure 3 G).

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This could either be due to the more limited number of highly significant mutation clusters that were identified in these other tumor types ( n = 16 for BRCA and n = 23 for LGGGBM) but most likely also reflects the higher incidence of non-coding mutations in gene-promoter regions in SKCM.

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