Publications by authors named "A S Cornish"
Extrachromosomal DNA (ecDNA) is a major contributor to treatment resistance and poor outcome for patients with cancer. 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.
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- 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.
Introduction And Hypothesis: Vaginal pessaries are the mainstay of the non-surgical management of pelvic organ prolapse (POP). A flexible silicone irregular hexagonal (SIH) pessary was developed based on the results of a prior vaginal case study. We hypothesised that the SIH pessary would have a higher rate of retention and self-management than the polyvinyl chloride (PVC) pessary.
View Article and Find Full Text PDFColorectal 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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- 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.*