Scarano Carmela, Veneruso Iolanda, D'Argenio Valeria
CEINGE-Biotecnologie Avanzate Franco Salvatore, 80145 Napoli, Italy.
Department of Molecular Medicine and Medical Biotechnologies, Federico II University, 80131 Napoli, Italy.
Genes (Basel). 2025 Jul 23;16(8):857. doi: 10.3390/genes16080857.
About 10% of all forms of melanoma occur in a familial context and may be due to germline predisposing mutations transmitted as autosomal dominant traits within the affected families. is a highly penetrant gene associated to familial melanomas, being responsible of up to 40% of the cases. Other high, moderate, and low penetrance genes are being discovered, even if their own contribution to melanoma risk is still under debate. Indeed, next generation sequencing-based strategies enable large genomic regions to be analyzed, thus identifying novel candidate genes. These strategies, in diagnostic settings, may also improve the identification of the hereditary cases between all melanomas. The identification of the at-risk subjects gives an important opportunity for cancer surveillance in order to reduce the risk of onset and/or make early diagnosis. In addition, the identification of molecular biomarkers may drive the future development of specific targeted therapies, as already done for other inherited cancer syndromes. Here, we summarize the state of the art regarding the molecular basis of the hereditary susceptibility to develop melanoma.
所有形式的黑色素瘤中约10%发生在家族背景下，可能是由于在受影响家族中作为常染色体显性性状传递的种系易感突变所致。 是一种与家族性黑色素瘤相关的高外显率基因，在高达40%的病例中起作用。其他高、中、低外显率基因也在不断被发现，尽管它们对黑色素瘤风险的具体贡献仍存在争议。事实上，基于新一代测序的策略能够分析大片段基因组区域，从而识别出新的候选基因。在诊断环境中，这些策略还可能改善所有黑色素瘤中遗传性病例的识别。识别出高危个体为癌症监测提供了重要机会，以降低发病风险和/或进行早期诊断。此外，分子生物标志物的识别可能推动未来特定靶向治疗的发展，就像其他遗传性癌症综合征那样。在此，我们总结了黑色素瘤遗传性易感性分子基础的最新研究状况。
