Table 1.
Examples of genes related to the melanoma tumorigenesis process.
| Gene and Chromosome |
Mutations | Product | Function [Reference] |
|---|---|---|---|
| BRAF 7q34 |
T1799A, V600E, K601E, G469A | Serine/threonine-protein kinase | Activates a RAF/MEK/ERK signal transduction cascade, responsible for the cell division process [28] |
| NRAS 1p13 |
Q61R _Q61K | Guanosine triphosphate/diphosphate binding proteins | Extracellular signal transducer, responsible for communication between the cell membrane and nucleus [29] |
| NF1 17q11 |
Several polymorphisms | Cytoplasmic protein (Neurofibromin a) | Tumor suppressor [30] |
| TERT 5p1 |
rs2853669 | Catalytic subunit of telomerase (ribonucleoprotein complex) | Maintenance of telomere length [28] |
| CDKN2A 9p21 9p13-p22 |
Several polymorphisms | p16INK4A and p14ARF proteins | Transcription of tumor suppressor proteins (p16INK4A and p14ARF) [31] |
| TP53 17p13 |
Several polymorphisms | Nuclear phosphoprotein | Factor controlling the repair of damaged DNA and cell growth control by regulating transcription [32] |
| CDK4 12q14 |
Several polymorphisms | Kinases forming heterodimers with D-type cyclins | Regulates the transition between G1 and S phases in the cell replication cycle [33] |
| AKT 14q32 |
Several polymorphisms | Protein kinase B alpha, beta, and gamma | Regulates various cellular functions, such as cell proliferation, survival, metabolism, and angiogenesis in normal and malignant cells [32] |