# Molecular Profile of Skin Cancer
## 3 Gene Mutations in Melanoma
Tp 53 is another somatic mutation found in about 50% of cutaneous melanoma. Moreover, the combination of germline TP 53 and BRCA 1 (chromosome 7)/2 (chromosome 13) mutation may have played a role in melanoma formation [32]. There are also other genes that were found to suffer mutations that could lead to the appearance of skin cancer. According to [PERSON] et al. [33], NRAS, ROS1, NTRK and ALK are only a few examples of genes that might be used as targets of the therapy in the near future. Moreover, alterations in some genes such as neurofibromin 1 or RAC 1 gene have been detected, their clinical relevance still to be revealed. Recently, one study showed the possibility of the implication of another gene mutation in the pathology of skin cancer, especially when it comes to vemurafenib-resistant melanoma. [PERSON] et al. [34] discovered during their research activity the importance of the BCORL1 gene mutation. Found on the short arm of the X chromosome, in position 26, BCORL1 acts as a transcriptional corepressor, which may specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6. This repressive function may be mediated at least in part by histone deacetylase activities. The gene seems to be very important in the therapy of skin cancer, its mutations being correlated with resistance of the disease to previous effective drugs. A possible intervention for this class of mutants might be the association of vemurafenib with sorafenib, a pan-RAF inhibitor that seems not to be affected by the usual BRAF and BCORL1 mutations. Another mutation found especially in melanoma is the alteration of CTNNB1 gene, known as the gene that encodes the protein catenin beta-1 (\(\beta\)-catenin). Somatic mutations have been found in up to 23% of the malignant melanoma cell lines [35], while other studies show that these mutations are rare in uveal melanomas [36]. Moreover, genes such as GNA11 and GNAQ can be mutated in up to 50% of melanomas, especially in uveal melanomas, which are related more to ophthalmology than to dermatology [37]. When it comes to mutations in DNA repair genes, studies are still at the very beginning. A study by [PERSON] et al. [38] illustrates a long list of possible genes such as MLL3, POLQ, SLX4 and many more that might be altered and that could determine the apparition of different types of cancers. However, strong evidence found from pieces obtained after biopsy that were afterwards immunohistochemically analyzed are still to come in the near future. In terms of UV exposure, YTRP1 (tyrosine-related protein 1) and miR-204-5p (a member of the miRNA family; it is down-regulated and functions as a tumor suppressor in various types of human tumors) were highly expressed in patients with cutaneous melanoma living at higher altitudes [39]. Finally, we must not forget the C-KIT gene mutation that is retrieved in 11% of patients with melanoma. Frequently, C-KIT-mutated melanomas are located in acral regions and mucosae [40]. It is important to mention that these are distinctive clinico-pathological entities that require special therapy and have a different prognosis.