Molecular characterisation of cutaneous melanoma: creating a framework for targeted and immune therapies

Br J Cancer. 2016 Jul 12;115(2):145-55. doi: 10.1038/bjc.2016.195. Epub 2016 Jun 23.

Abstract

Large-scale genomic analyses of cutaneous melanoma have revealed insights into the aetiology and heterogeneity of this disease, as well as opportunities to further personalise treatment for patients with targeted and immune therapies. Herein, we review the proposed genomic classification of cutaneous melanoma from large-scale next-generation sequencing studies, including the largest integrative analysis of melanoma from The Cancer Genome Atlas (TCGA) Network. We examine studies that have identified molecular features of melanomas linked to immune checkpoint inhibitor response. In addition, we draw attention to low-frequency actionable mutations and highlight frequent non-coding mutations in melanoma where little is known about their biological function that may provide novel avenues for the development of treatment strategies for melanoma patients.

Publication types

  • Review

MeSH terms

  • Atlases as Topic
  • Humans
  • Immunotherapy
  • Melanoma / genetics*
  • Melanoma / therapy*
  • Mutation
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / therapy*