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hits: 41
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  • Genomic landscape and chron... Genomic landscape and chronological reconstruction of driver events in multiple myeloma
    Maura, Francesco; Bolli, Niccoló; Angelopoulos, Nicos ... Nature communications, 08/2019, Volume: 10, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    The multiple myeloma (MM) genome is heterogeneous and evolves through preclinical and post-diagnosis phases. Here we report a catalog and hierarchy of driver lesions using sequences from 67 MM ...
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  • Plasma vitamin D concentration influences survival outcome after a diagnosis of colorectal cancer
    Zgaga, Lina; Theodoratou, Evropi; Farrington, Susan M ... Journal of clinical oncology, 08/2014, Volume: 32, Issue: 23
    Journal Article
    Peer reviewed
    Open access

    We investigated whether the plasma level of 25-hydroxyvitamin D (25-OHD) after a diagnosis of colorectal cancer (CRC) influences survival outcome. We prospectively studied 1,598 patients with stage I ...
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  • Comprehensive molecular com... Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers
    Glodzik, Dominik; Bosch, Ana; Hartman, Johan ... Nature communications, 07/2020, Volume: 11, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    Homologous recombination deficiency (HRD) is a defining characteristic in BRCA-deficient breast tumors caused by genetic or epigenetic alterations in key pathway genes. We investigated the frequency ...
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  • Whole-Genome Sequencing Rev... Whole-Genome Sequencing Reveals Breast Cancers with Mismatch Repair Deficiency
    Davies, Helen; Morganella, Sandro; Purdie, Colin A ... Cancer research, 09/2017, Volume: 77, Issue: 18
    Journal Article
    Peer reviewed
    Open access

    Mismatch repair (MMR)-deficient cancers have been discovered to be highly responsive to immune therapies such as PD-1 checkpoint blockade, making their definition in patients, where they may be ...
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  • Partially methylated domain... Partially methylated domains are hypervariable in breast cancer and fuel widespread CpG island hypermethylation
    Brinkman, Arie B; Nik-Zainal, Serena; Simmer, Femke ... Nature communications, 04/2019, Volume: 10, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    Global loss of DNA methylation and CpG island (CGI) hypermethylation are key epigenomic aberrations in cancer. Global loss manifests itself in partially methylated domains (PMDs) which extend up to ...
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  • Revealing the impact of str... Revealing the impact of structural variants in multiple myeloma
    Rustad, Even H; Yellapantula, Venkata D; Glodzik, Dominik ... Blood cancer discovery, 11/2020, Volume: 1, Issue: 3
    Journal Article
    Peer reviewed
    Open access

    The landscape of structural variants (SVs) in multiple myeloma remains poorly understood. Here, we performed comprehensive analysis of SVs in a large cohort of 752 multiple myeloma patients by low ...
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  • Local exome sequences facil... Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies
    Joshi, Peter K; Prendergast, James; Fraser, Ross M ... PloS one, 07/2013, Volume: 8, Issue: 7
    Journal Article
    Peer reviewed
    Open access

    The analysis of less common variants in genome-wide association studies promises to elucidate complex trait genetics but is hampered by low power to reliably detect association. We show that addition ...
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  • Whole-genome sequencing of ... Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study
    Staaf, Johan; Glodzik, Dominik; Bosch, Ana ... Nature medicine, 10/2019, Volume: 25, Issue: 10
    Journal Article
    Peer reviewed
    Open access

    Whole-genome sequencing (WGS) brings comprehensive insights to cancer genome interpretation. To explore the clinical value of WGS, we sequenced 254 triple-negative breast cancers (TNBCs) for which ...
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  • Cancer therapy shapes the f... Cancer therapy shapes the fitness landscape of clonal hematopoiesis
    Bolton, Kelly L; Ptashkin, Ryan N; Gao, Teng ... Nature genetics, 11/2020, Volume: 52, Issue: 11
    Journal Article
    Peer reviewed
    Open access

    Acquired mutations are pervasive across normal tissues. However, understanding of the processes that drive transformation of certain clones to cancer is limited. Here we study this phenomenon in the ...
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  • Landscape of somatic mutati... Landscape of somatic mutations in 560 breast cancer whole-genome sequences
    Nik-Zainal, Serena; Davies, Helen; Staaf, Johan ... Nature, 06/2016, Volume: 534, Issue: 7605
    Journal Article
    Peer reviewed
    Open access

    We analysed whole-genome sequences of 560 breast cancers to advance understanding of the driver mutations conferring clonal advantage and the mutational processes generating somatic mutations. We ...
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