Alex J. Cornish

Nov 6, 2024 | nature.com | Oriol Pich |Kerstin Thol |Jens Luebeck |Natasha E. Weiser |Wei-Ting Lu |Brooke E. Howitt | +11 more

AbstractExtrachromosomal DNA (ecDNA) is a major contributor to treatment resistance and poor outcome for patients with cancer1,2. Here we examine the diversity of ecDNA elements across cancer, revealing the associated tissue, genetic and mutational contexts. By analysing data from 14,778 patients with 39 tumour types from the 100,000 Genomes Project, we demonstrate that 17.1% of tumour samples contain ecDNA.

Oct 26, 2024 | nature.com | Máire Ní Leathlobhair |Anna Frangou |Ben Kinnersley |Alex J. Cornish |Eszter Lakatos |Andreas Gruber | +10 more

AbstractTesticular germ cell tumours (TGCT), which comprise seminoma and non-seminoma subtypes, are the most common cancers in young men. In this study, we present a comprehensive whole genome sequencing analysis of adult TGCTs. Leveraging samples from participants recruited via the UK National Health Service and data from the Genomics England 100,000 Genomes Project, our results provide an extended description of genomic elements underlying TGCT pathogenesis.

Aug 7, 2024 | nature.com | Alex J. Cornish |Andreas Gruber |Ben Kinnersley |Anna Frangou |Giulio Caravagna |Boris Noyvert | +23 more

AbstractColorectal carcinoma (CRC) is a common cause of mortality1, but a comprehensive description of its genomic landscape is lacking2,3,4,5,6,7,8,9. Here we perform whole-genome sequencing of 2,023 CRC samples from participants in the UK 100,000 Genomes Project, thereby providing a highly detailed somatic mutational landscape of this cancer.

Jul 14, 2024 | nature.com | Richard Culliford |Charlie Mills |Alex J. Cornish |Ben Kinnersley |Amit Sud |Husayn Pallikonda | +5 more

AbstractClear cell renal cell carcinoma (ccRCC) is the most common form of kidney cancer, but a comprehensive description of its genomic landscape is lacking. We report the whole genome sequencing of 778 ccRCC patients enrolled in the 100,000 Genomes Project, providing for a detailed description of the somatic mutational landscape of ccRCC.