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CASCADE metastatic melanoma study

In this study we analyse the evolution of human melanoma from early to late disease in patients by sampling their tumours at multiple sites and times. Whole exome and genome sequencing data from tumour samples reveals only limited gain of point mutations generally, with net mutational loss in some metastases. In contrast, melanoma evolution is dominated by whole genome doubling and large-scale aneuploidy, in which widespread loss of heterozygosity sculpts the burden of point mutations, neoantigens and structural variants even in treatment-naïve and primary cutaneous melanomas in some patients. These results imply that dysregulation of genomic integrity is a key driver of selective clonal advantage during melanoma progression.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001006867 Illumina HiSeq 2500 209
Publications Citations
Evolution of late-stage metastatic melanoma is dominated by aneuploidy and whole genome doubling.
Nat Commun 12: 2021 1434
28