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Etiology

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Immunotherapy of Melanoma

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Abstract

Melanoma etiology is complex and involves several types of risk factors which can be broadly classified into environmental, phenotypic and genetic factors. In this chapter, different types of risk factors and their association with melanoma are detailed. First, UV radiation, a well-known environmental risk factor for melanoma, its characteristic features, subtypes, types of DNA damages caused and the main repair mechanisms are discussed; Xeroderma Pigmentosum, a rare disorder caused due to patients’ inability to repair UV-B induced DNA damage is also discussed. Next, the correlation between family history and melanoma, details on Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome, relationship between skin/hair color and melanoma development are discussed. Various melanoma susceptibility genes classified into high, moderate or intermediate and low risk are listed. Among the high risk genes, CDKN2A and CDK4/6 are described along with the key functions of the proteins encoded by them. Among the moderate-to-low risk genes identified, the functions of MC1R and MITF are described. Finally the significance of signaling pathways regulating cell survival and proliferation in the initiation and/or progression of melanoma is discussed with emphasis on MAPK pathway. The functions of c-KIT, NRAS and BRAF under normal physiological conditions are discussed along with some of the important studies showing associations between c-KIT/NRAS/BRAF mutations and melanoma. Special emphasis is made on NRAS as well as BRAF mutations since their inhibitors including MEK inhibitors (trametanib and cobimetinib) as well as selective BRAFV600E inhibitors (dabrafenib and vemurafenib) were approved for the treatment of melanoma.

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  1. Faculty of Medicine, Department of Dermatology and Skin Science, University of British Columbia, Vancouver, British Columbia, Canada

    Anand Rotte & Madhuri Bhandaru

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Rotte, A., Bhandaru, M. (2016). Etiology. In: Immunotherapy of Melanoma. Springer, Cham. https://doi.org/10.1007/978-3-319-48066-4_3

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