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Showing 1–7 of 7 results
Advanced filters: Author: Chey Loveday Clear advanced filters

  • Most testicular germ-cell tumours are exquisitely sensitive to platinum-based chemotherapies, but little is known about why 10% are resistant. Here, the authors explore the potential underlying mechanisms by probing the genomic landscape of platinum-resistant disease.

    • Chey Loveday
    • Kevin Litchfield
    • Clare Turnbull
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-12

  • Testicular germ cell tumors are highly heritable, and the authors present the largest genome association study, identifying 22 novel loci, which account for a third of those identified to date. Implicated pathways include male germ cell development and differentiation, and chromosomal segregation.

    • John Pluta
    • Louise C. Pyle
    • Christian Kubisch
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-13

  • Nazneen Rahman and colleagues show that germline inactivating mutations in RAD51D confer susceptibility to ovarian cancer. They further show that RAD51D-deficient cells are sensitive to PARP inhibition, suggesting a possible strategy for treating cancers arising in RAD51D mutation carriers.

    • Chey Loveday
    • Clare Turnbull
    • Nazneen Rahman
    Research
    Nature Genetics
    Volume: 43, P: 879-882

  • A genome-wide association study of mosaic loss of chromosome Y (LOY) in UK Biobank participants identifies 156 genetic determinants of LOY, showing that LOY is associated with cancer and non-haematological health outcomes.

    • Deborah J. Thompson
    • Giulio Genovese
    • John R. B. Perry
    Research
    Nature
    Volume: 575, P: 652-657

  • Rare truncating mutations in the p53-inducible protein phosphatase PPM1D are shown to be associated with predisposition to breast cancer and ovarian cancer; notably, all of the mutations are mosaic in white blood cells but are not present in tumours, and probably have a gain-of-function effect.

    • Elise Ruark
    • Katie Snape
    • Nazneen Rahman
    Research
    Nature
    Volume: 493, P: 406-410

  • Clare Turnbull and colleagues report discovery of 19 new susceptibility loci for testicular germ cell tumor (TGCT) and provide evidence for a network of physical interactions between TGCT risk variants and candidate causal genes. Their findings implicate widespread disruption of developmental transcriptional regulators in TGCT susceptibility, consistent with failed primordial germ cell differentiation as an initiating step in oncogenesis.

    • Kevin Litchfield
    • Max Levy
    • Clare Turnbull
    Research
    Nature Genetics
    Volume: 49, P: 1133-1140