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

Scientific paper - Review paper

• Author: Semir Vranic
• Author: Nikola Šerman
• Author: Mislav Glibo
• Author: Ljiljana Šerman
• Author: Zrinka Bukvić Mokos; MBZ: 279423
• Author's institution: University of Zagreb; School of Medicine; (Department of Dermatology)
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Dermatovenerology

Abstract (english)

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.

• Keywords (english): Genetic Counseling; Genetic Predisposition to Disease; Humans; Melanins / genetics; Melanoma / etiology; Melanoma / genetics; Risk Factors; Skin Neoplasms / genetics; Tumor Suppressor Proteins / genetics
• Language: english
• Publication type: Scientific paper - Review paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Bosnian Journal of Basic Medical Sciences
• Numbering: vol. 22, no. 5, pp. 673-682
• p-ISSN: 1512-8601
• e-ISSN: 1840-4812
• DOI: https://doi.org/10.17305/bjbms.2021.7378
• URN:NBN: urn:nbn:hr:105:630488
• Publication: 2022-09-16
• Document URL: https://www.bjbms.org/ojs/index.php/bjbms/article/view/7378
• Type of resource: Text
• Access conditions: Open access
• Created on: 2022-12-09 12:14:26