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Genetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review

Melanoma is a highly aggressive cancer originating from melanocytes. Its etiopathogenesis is strongly related to genetic, epigenetic, and environmental factors. Melanomas encountered in clinical practice are predominantly sporadic, whereas hereditary melanomas account for approximately 10% of the ca...

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Detalles Bibliográficos
Autores principales: Šerman, Nikola, Vranić, Semir, Glibo, Mislav, Šerman, Ljiljana, Mokos, Zrinka Bukvić
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519167/
https://www.ncbi.nlm.nih.gov/pubmed/35465855
http://dx.doi.org/10.17305/bjbms.2021.7378
Descripción
Sumario:Melanoma is a highly aggressive cancer originating from melanocytes. Its etiopathogenesis is strongly related to genetic, epigenetic, and environmental factors. Melanomas encountered in clinical practice are predominantly sporadic, whereas hereditary melanomas account for approximately 10% of the cases. Hereditary melanomas mainly develop due to mutations in the cyclin-dependent kinase 2A (CDKN2A) gene, which encodes two tumor suppressor proteins involved in the cell cycle regulation. CDKN2A, along with CDK4, TERT, and POT1 genes, are high-risk genes for melanoma. Among the genes that carry a moderate risk are MC1R and MITF, whose protein products are involved in melanin synthesis. The environment also contributes to the development of melanoma. Patients at risk of melanoma should be offered genetic counseling to discuss genetic testing options and the importance of skin UV protection, avoidance of sun exposure, and regular preventive dermatological examinations. Although cancer screening cannot prevent the development of the disease, it allows for early diagnosis when the survival rate is the highest.