Molecular Epidemiology of Melanoma

Abstract

There have been major advances in our understanding of the molecular epidemiology of melanoma over the past decade. Comprehensive cataloguing of a landscape of driver mutations has enabled identification of the key pathways that underscore the biological processes and therapeutic opportunities in melanoma. This new knowledge has been complemented by an improved understanding of the genetic susceptibility of melanoma, in pigmentation, nevus, telomere, and other biological pathways, identified mainly by genome-wide association studies. This chapter describes the genetic basis for melanoma, including cutaneous melanoma of nondesmoplastic and desmoplastic types, acral, mucosal, and uveal melanomas. It describes analyses of gene-environment, gene-gene (epistasis), and gene-phenotype interactions that have led to an improved understanding of the biological processes involved in melanoma development and more accurate prediction of an individual’s melanoma risk. The research presented highlights the exciting developments that have come from combining different types of data, including somatic, germline, clinical, pathologic, phenotypic, and environmental risk factors. Show more