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

Nikola Serman; Semir Vranic; Mislav Glibo; Ljiljana Serman; Zrinka Bukvic Mokos

doi:10.17305/bjbms.2021.7378

Authors

Nikola Serman Zagreb Emergency Medicine Service, Zagreb, Croatia https://orcid.org/0000-0002-5537-3782
Semir Vranic College of Medicine, QU Health, Qatar University, Doha, Qatar https://orcid.org/0000-0001-9743-7265
Mislav Glibo Department of Biology, School of Medicine, University of Zagreb, Zagreb, Croatia https://orcid.org/0000-0002-2007-3018
Ljiljana Serman Centre of Excellence in Reproductive and Regenerative Medicine, University of Zagreb School of Medicine, Zagreb, Croatia https://orcid.org/0000-0003-2721-1281
Zrinka Bukvic Mokos School of Medicine, University of Zagreb; Department of Dermatology and Venereology, University Hospital Centre Zagreb, Zagreb, Croatia https://orcid.org/0000-0002-1180-9759

DOI:

https://doi.org/10.17305/bjbms.2021.7378

Keywords:

Melanoma, Genetics, hereditary syndrome, genetic counselling

Abstract

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 CDKN2A gene, which encodes two tumor suppressor proteins involved in the cell cycle regulation. CDKN2A, along with CDK4, TERT, and POT1 genes, is a high-risk gene 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.