Table 7 Melanoma case study. Gene mutations retrieved from ClinVar. Gene name, accession number, mutation, clinical significance and literature references are reported, respectively
From: MiRNA therapeutics based on logic circuits of biological pathways
Gene | Accession | Mutation | Clinical significance | Ref |
|---|---|---|---|---|
BRAF | NM_004333.4 | c.1799T>G (p.Val600Gly) | Pathogenic | ([74]) |
RAF(ARAF) | NM_001654.4 | c.640T>G (p.Ser214Ala) | Likely pathogenic | ([75]) |
NRAS | NM_002524.4 | c.182_183delAAinsGG (p.Gln61Arg) | Pathogenic | ([76]) |
RAS (KRAS) | NM_004985.4 | c.351A>C (p.Lys117Asn) | Pathogenic/Likely pathogenic | ([75]) |
AKT1 | NM_005163.2 | c.235C>A (p.Gln79Lys) | Likely pathogenic | ([77]) |
PI3K | NM_006218.3 | c.3140A>T (p.His1047Leu) | Pathogenic | ([78]) |
MEK/MAP2K1 | NM_002755.3 | c.157T>C (p.Phe53Leu) | Pathogenic | ([79]) |
CDK/CDKN2A | NM_000077.4 | c.148C>T (p.Gln50Ter) | Pathogenic | ([80]) |