Melanoma is considered the most lethal skin cancer and its incidence has increased during the past decades. About 10 % of cases are classified as hereditary melanoma. Genetic predisposition usually manifests itself clinically as early onset and multiple cutaneous melanomas. Several genes have been identified as involved to melanoma susceptibility, some of them still with unknown clinical relevance. Beyond melanoma, the affected families are also more prone to develop other malignancies, such as pancreatic cancer. The identification of risk families and involved genes is of great importance, since different forms of oncological surveillance are recommended. However, well established guidelines to standardize both the selection of individuals and the genetic panel to be requested are still lacking. Given the importance of the genetic counseling and testing in the context of clinical suspicion of hereditary melanoma, this paper aims to review the literature regarding genetic panel indications worldwide.

黑色素瘤被认为是最致命的皮肤癌，其发病率在过去几十年中有所增加。大约 10% 的病例被归类为遗传性黑色素瘤。遗传易感性通常在临床上表现为早发性和多发性皮肤黑色素瘤。已经确定了几个基因与黑色素瘤易感性有关，其中一些基因仍然具有未知的临床相关性。除了黑色素瘤，受影响的家庭也更容易患上其他恶性肿瘤，例如胰腺癌。风险家族和相关基因的识别非常重要，因为建议进行不同形式的肿瘤监测。然而，仍然缺乏完善的指导方针来标准化个体的选择和所需的遗传小组。