Abstract
Contralateral axillary metastasis: is surgical treatment the best option?
Highlights
Melanoma is a malignant tumour originating from melanocytes, the cells specialised to produce the melanin pigment
In this review we will focus on cutaneous melanoma (CM), as there are many differences in the genetic background implicated in different types of melanoma, such as mucosal or uveal melanoma
We present the main genetic features contributing to the development of CM
Summary
Melanoma is a malignant tumour originating from melanocytes, the cells specialised to produce the melanin pigment. The Cancer Genome Atlas Skin Cutaneous Melanoma (SKCM-TCGA) project confirmed, through exome sequencing, previously reported melanoma oncogenes and tumour suppressors (BRAF, NRAS, CDKN2A, TP53, and PTEN) and identified several additional significantly mutated melanoma genes, namely, MAP2K1, IDH1, RB1, and DDX3X[19]. Our group presented a methodology combining functional impact analysis with pathway enrichment, to deal with a limited dataset, in order to distinguish important genes and possible drivers exploiting exome sequencing data from melanoma patients in Greece[80]. The BRAF gene encodes a serine/threonine protein kinase, belonging to the RAF family This protein acts as a downstream effector of RAS-signalling in the MAPK cascade, affecting cell proliferation and survival. Mutations in this gene have been identified in various cancers. In the case of CM, loss-of-function mutations in the ARID2 gene are the most frequent among SWI/SNF enzymes
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