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Genetics and Genomics of Skin Diseases, II: Genomics of Pigmentation and Skin Cancer 

Genetics and Genomics of Skin Diseases, II: Genomics of Pigmentation and Skin Cancer
Genetics and Genomics of Skin Diseases, II: Genomics of Pigmentation and Skin Cancer

Eugene Healy

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date: 30 October 2020

Skin and hair pigmentation in man are complex genetic traits. Important genes controlling skin color in man include the MC1R, SLC24A5 (Golden), SLC45A2 (MATP), TYR, TYRP1, OCA2 (P), ASIP, POMC, KITLG, IRF4. Inherited disorders of pigmentation may affect melanocyte migration and survival, or synthesis of melanin and its distribution to keratinocytes. The acquired depigmenting disorder vitiligo is strongly genetically influenced. Based on the differences in skin cancer incidence and susceptibility to sunburn between racial groups, melanin (in particular eumelanin) is considered photoprotective, preventing ultraviolet radiation (UVR)-induced DNA damage and cancer development in skin. Several different types of cancer affect the skin, including basal cell carcinoma ((BCC), from keratinocytes), squamous cell carcinoma ((SCC), from keratinocytes), melanoma (from melanocytes or melanocytic nevi), merkel cell carcinoma (from merkel cells), cutaneous T cell lymphoma (from lymphocytes), angiosarcoma (from endothelial cells lining blood vessels) and fibrosarcoma (from fibroblasts). Earlier studies identified that MC1R gene variants increase the risk of sporadic melanoma and melanoma in families with atypical mole syndrome secondary to cyclin-dependent kinase inhibitor 2A (CDKN2A) germline alterations. The knowledge on the somatic genetic alterations in skin cancers and the genetic events responsible for the behaviour of the different types of tumours continues to grow, and is likely to expand in the future. In addition, it is expected that our understanding of the genotypes of susceptibility to skin carcinogenesis, and the genotypes of the host and the tumour and how they influence host-tumour and tumour-host interactions, will continue to develop, and that this will lead to improved prevention and treatments for melanoma and non-melanoma in future years.

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