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2 weeks ago | 
nature.com | Molly Went |Charlie Mills |Amit Sud |James Allan |Richard S. Houlston
AbstractAlthough treatment options for B-cell malignancies have expanded, many patients continue to face limited response rates, highlighting an urgent need for new therapeutic targets.
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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.
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Aug 4, 2024 | 
nature.com | Molly Went |Gísli H. Halldórsson |Andrea Gunnell |Philip J Law |Amit Sud |Gudmar Thorleifsson | +24 more
AbstractMultiple myeloma (MM) is an incurable malignancy of plasma cells. Epidemiological studies indicate a substantial heritable component, but the underlying mechanisms remain unclear. Here, in a genome-wide association study totaling 10,906 cases and 366,221 controls, we identify 35 MM risk loci, 12 of which are novel.
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Jul 15, 2024 | 
nature.com | Jessica Hislop |Molly Went |Charlie Mills |Amit Sud |Philip J Law
Clonal haematopoiesis, the clonal expansion of a blood stem cell and its progeny, is increasingly detectable with age in the blood of healthy individuals [1, 2]. Clonal haematopoiesis of indeterminate potential (CHIP) is characterised by the expansion of clones with oncogenic mutations, primarily in DNMT3A, TET2, ASXL1, JAK2, and is associated with mosaic chromosomal alterations [2].
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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.
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Jun 18, 2024 | 
nature.com | Ben Kinnersley |Amit Sud |Andreas Gruber |David C. Wedge
AbstractTumor 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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Mar 25, 2024 | 
nature.com | Molly Went |Amit Sud |Charlie Mills |Philip J Law |Jayaram Vijayakrishnan |Ines Gockel | +5 more
AbstractFor many cancers there are only a few well-established risk factors. Here, we use summary data from genome-wide association studies (GWAS) in a Mendelian randomisation (MR) phenome-wide association study (PheWAS) to identify potentially causal relationships for over 3,000 traits. Our outcome datasets comprise 378,142 cases across breast, prostate, colorectal, lung, endometrial, oesophageal, renal, and ovarian cancers, as well as 485,715 controls.
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May 10, 2023 | 00156-0/abstract&sz=64)
thelancet.com | Smith-Byrne K |Catherine Huntley |Bethany Torr |Amit Sud
SummaryBackgroundIt is proposed that, through restriction to individuals delineated as high risk, polygenic risk scores (PRSs) might enable more efficient targeting of existing cancer screening programmes and enable extension into new age ranges and disease types.
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Mar 1, 2023 | 
inkl.com | Amit Sud
A group of experts from The Institute of Cancer Research, London, the University of Oxford and University College London (UCL), are calling for clarity on the expected benefits of this approach.
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Feb 28, 2023 | 
bmj.com | Amit Sud |Rachel Horton |Aroon Hingorani |Ioanna Tzoulaki
News & ViewsRealistic expectations...
