ZEN DEN BRIAN HEAD DRIVERS

Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously.

ZEN DEN BRIAN HEAD DRIVERS

On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds.

Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale 1, 2, 3.

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