Publications by authors named "D Chubb"

Article Synopsis
  • Testicular germ cell tumours (TGCT) are the most common cancers found in young men, including seminoma and non-seminoma types.
  • This study uses whole genome sequencing to analyze adult TGCTs, providing a detailed genomic profile that includes mutations, structural variations, and DNA amplifications.
  • The research uncovers correlations between genetic changes and the different growth patterns of TGCT subtypes, highlighting late genomic duplication in some cases and a common immune disruption mechanism in seminomas.
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Colorectal carcinoma (CRC) is a common cause of mortality, but a comprehensive description of its genomic landscape is lacking. 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. Integrated analyses identify more than 250 putative CRC driver genes, many not previously implicated in CRC or other cancers, including several recurrent changes outside the coding genome.

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Article Synopsis
  • Clear cell renal cell carcinoma (ccRCC) is the most prevalent type of kidney cancer, and a study analyzed the genomes of 778 ccRCC patients to uncover its mutational characteristics.
  • * The research identified key driver genes and emphasized the significance of epigenetic regulation, which may open up new treatment possibilities.
  • * Findings included that patients with more structural copy number alterations had worse outcomes, while those with VHL mutations fared better; this work supports the idea that immune response plays a role in prognosis and could influence immunotherapy approaches.*
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Tumor genomic profiling is increasingly seen as a prerequisite to guide the treatment of patients with cancer. To explore the value of whole-genome sequencing (WGS) in broadening the scope of cancers potentially amenable to a precision therapy, we analysed whole-genome sequencing data on 10,478 patients spanning 35 cancer types recruited to the UK 100,000 Genomes Project. We identified 330 candidate driver genes, including 74 that are new to any cancer.

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Interval breast cancers (IBCs) are cancers diagnosed between screening episodes. Understanding the biological differences between IBCs and screen-detected breast-cancers (SDBCs) has the potential to improve mammographic screening and patient management. We analysed and compared the genomic landscape of 288 IBCs and 473 SDBCs by whole genome sequencing of paired tumour-normal patient samples collected as part of the UK 100,000 Genomes Project.

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