Mutations predisposing to melanoma: Implications for tumor behavior

Abstract

Advances in genetic research and the development of new modalities, such as tyrosine kinase inhibitors and immune checkpoint inhibitors, have led to a paradigm shift in the management of patients with cutaneous melanoma. Melanoma has one of the highest mutation rates among malignancies, and both available therapies are affected by this. Four subtypes of melanoma genotypes were classified based on significantly mutated genes, and BRAF mutations were the most prevalent drivers in Western countries, whereas the proportion was distinct in Japan. Mutation profiles are strongly associated with tumor behaviors, such as proliferation, metastasis, and drug sensitivity. This review aims to help readers better understand the relationship between mutations and tumor biology in cutaneous melanomas. Moreover, it discusses the significance of genetic research in the clinical management of patients with cutaneous melanoma.