Table 1.
The most common UV-induced gene mutations in CSCC.
| Gene | Transation | Mutation Rate in CSCC | Mechanisms | ncRNA Target | Ref. |
|---|---|---|---|---|---|
| TP53 | C > T transition | ~50–90% | UVR inactivates TP53 gene and down-regulates its expression, promoting pro-survival, pro-invasive and pro-tumorigenic functions in CSCC. |
|
[2,23,25,26,27,28] |
| NOTCH1 NOTCH2 | G > A transition | ~82% | UVR induces loss of function of NOTCH1 and NOTCH2 genes and down-regulates their expression, sustaining tumor progression. | Not mentioned | [2,22,23,29,30] |
| CDKN2A | Different nucleotide transitions | ~28–50% | UVR inactivates CDKN2A gene leading to uncontrolled cell proliferation. | Not mentioned | [2,22,31,32] |
| RAS | Different nucleotide transitions at codon 61 | ~21% (with prevalence of mutation in HRSA). | UVR induces activating mutation that drive the tumorigenic processes by activating the RAF/MEK/ERK1/ERK2 signaling pathway. | Not mentioned | [29,33,34] |
| EGFR | / | ~2.5–3% | UVR-mediated gain-of-function mutations promoting the over-activation of the RAF/MEK/ERK1/ERK2 signaling pathway. |
|
[29,33,34,35,36,37,38] |
| KMT2C KMT2D | / | ~67% | UVR inactivates KMT2C gene leading to aggressive CSCC and bone metastasis. | Not mentioned | [24,26] |