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

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.

Hypomethylation of CD3D promoter induces immune cell infiltration and supports malignant phenotypes in uveal melanoma

“…Cutaneous melanoma often spreads widely to lymph nodes and distant organs, and the skin is the main site for diagnosing and treating it. 3 Uveal melanoma originates from melanocytes in the eye choroid, usually in the area behind the retina. 4 Uveal melanoma often affects the intraocular tissues and lens and can cause complications such as retinal detachment.…”

“…Cutaneous melanoma originates from skin melanocytes and typically occurs in areas frequently exposed to sunlight, such as the arms, legs, and chest. Cutaneous melanoma often spreads widely to lymph nodes and distant organs, and the skin is the main site for diagnosing and treating it 3 . Uveal melanoma originates from melanocytes in the eye choroid, usually in the area behind the retina 4 .…”