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.

中文翻译：

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黑色素瘤发病机制中的遗传风险因素和遗传咨询的作用：简明综述。

黑色素瘤是一种源自黑色素细胞的高度侵袭性癌症。其发病机制与遗传、表观遗传和环境因素密切相关。临床实践中遇到的黑色素瘤主要是散发的，而遗传性黑色素瘤约占病例的 10%。遗传性黑色素瘤主要是由于 CDKN2A 基因的突变而发展的，该基因编码两种参与细胞周期调节的肿瘤抑制蛋白。CDKN2A 与 CDK4、TERT 和 POT1 基因一起，是黑色素瘤的高危基因。具有中等风险的基因包括 MC1R 和 MITF，它们的蛋白质产物参与黑色素合成。环境也有助于黑色素瘤的发展。应向有黑色素瘤风险的患者提供遗传咨询，以讨论基因检测选项和皮肤紫外线防护的重要性、避免阳光照射以及定期进行预防性皮肤病学检查。虽然癌症筛查不能预防疾病的发展，但它可以在存活率最高时进行早期诊断。