CASCADE metastatic melanoma study

Study ID Alternative Stable ID Type
EGAS00001004950 Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Sequence data (paired-end FASTQ format) for 209 samples from 73 sample sites, from 7 individuals. Samples include primary melanomas, metastatic tumours and ctDNA
Illumina HiSeq 2500 209

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