Browsing by Author "PCAWG Consortium"

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  • Jiao, Wei; Atwal, Gurnit; Polak, Paz; Karlic, Rosa; Cuppen, Edwin; PCAWG Tumor Subtypes and Clinical Translation Working Group; Danyi, Alexandra; Ridder, Jeroen de; van Herpen, Carla; Lolkema, Martijn P.; Steeghs, Neeltje; Getz, Gad; Morris, Quaid; Stein, Lincoln D.; PCAWG Consortium; Stobbe, Miranda D. (Nature Research, 2020)
    In cancer, the primary tumour's organ of origin and histopathology are the strongest determinants of its clinical behaviour, but in 3% of cases a patient presents with a metastatic tumour and no obvious primary. Here, as ...
  • Rheinbay, Esther; Sabarinathan, Radhakrishnan; Mularoni, Loris; Gonzalez-Perez, Abel; Pich, Oriol; Tamborero Noguera, David; López Bigas, Núria; Getz, Gad; PCAWG Consortium (Nature Research, 2020)
    The discovery of drivers of cancer has traditionally focused on protein-coding genes1-4. Here we present analyses of driver point mutations and structural variants in non-coding regions across 2,658 genomes from the ...
  • Carlevaro-Fita, Joana; Lanzós, Andrés; Feuerbach, Lars; Hong, Chen; Mas Ponte, David; Pedersen, Jackob S.; PCAWG Drivers and Functional Interpretation Working Group; Johnson, Rory; PCAWG Consortium (Nature Research, 2020)
    Long non-coding RNAs (lncRNAs) are a growing focus of cancer genomics studies, creating the need for a resource of lncRNAs with validated cancer roles. Furthermore, it remains debated whether mutated lncRNAs can drive ...
  • Shuai, Shimin; PCAWG Drivers and Functional Interpretation Working Group; Gallinger, Steven; Stein, Lincoln D.; PCAWG Consortium; Deu-Pons, Jordi; Gut, Ivo Glynne; Muiños, Ferran; Mularoni, Loris; Rubio Pérez, Carlota, 1990-; Tamborero Noguera, David (Nature Research, 2020)
    The discovery of driver mutations is one of the key motivations for cancer genome sequencing. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing ...
  • Cortés-Ciriano, Isidro; Lee, Jake June-Koo; Xi, Ruibin; Jain, Dhawal; Jung, Youngsook L.; Yang, Lixing; Gordenin, Dmitry; Klimczak, Leszek J.; Zhang, Cheng-Zhong; Pellman, David S.; PCAWG Structural Variation Working Group; Park, Peter J.; PCAWG Consortium; Ossowski, Stephan; Pearson, John V. (Nature Research, 2020)
    Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may ...
  • Akdemir, Kadir C.; Le, Victoria T.; Chandran, Sahaana; Li, Yilong; Verhaak, Roel G.; Beroukhim, Rameen; Campbell, Peter J.; Chin, Linda; PCAWG Structural Variation Working Group; Dixon, Jesse R.; Futreal, P. Andrew; PCAWG Consortium; Ossowski, Stephan (Nature Research, 2020)
    Chromatin is folded into successive layers to organize linear DNA. Genes within the same topologically associating domains (TADs) demonstrate similar expression and histone-modification profiles, and boundaries separating ...
  • Sieverling, Lina; Hong, Chen; Koser, Sandra D.; Ginsbach, Philip; Kleinheinz, Kortine; Hutter, Barbara; Braun, Delia M.; Cortés-Ciriano, Isidro; Xi, Ruibin; Kabbe, Rolf; Park, Peter J.; Eils, Roland; Schlesner, Matthias; PCAWG Structural Variation Working Group; Brors, Benedikt; Rippe, Karsten; Jones, David T. W.; Feuerbach, Lars; PCAWG Consortium; Ossowski, Stephan; Estivill, Xavier, 1955- (Nature Research, 2020)
    Cancers require telomere maintenance mechanisms for unlimited replicative potential. They achieve this through TERT activation or alternative telomere lengthening associated with ATRX or DAXX loss. Here, as part of the ...
  • Zhang, Yikun; Chen, Fengju; Fonseca, Nuno; He, Yao; Fujita, Masashi; Nakagawa, Hidewaki; Zhang, Zemin; Brazma, Alvis; PCAWG Transcriptome Working Group; PCAWG Structural Variation Working Group; Creighton, Chad J.; PCAWG Consortium; Ossowski, Stephan (Nature Research, 2020)
    The impact of somatic structural variants (SVs) on gene expression in cancer is largely unknown. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole-genome sequencing ...
  • Paczkowska, Marta; Barenboim, Jonathan; Sintupisut, Nardnisa; Fox, Natalie S.; Zhu, Helen; Abd-Rabbo, Diala; Mee, Miles W.; Boutros, Paul C.; PCAWG Drivers and Functional Interpretation Working Group; Reimand, Jüri; PCAWG Consortium; Deu-Pons, Jordi; González Pérez, Abel; Gut, Ivo Glynne; Muiños, Ferran; Mularoni, Loris; Pich, Oriol; Rubio Pérez, Carlota; Sabarinathan, Radhakrishnan; Tamborero Noguera, David (Nature Research, 2020)
    Multi-omics datasets represent distinct aspects of the central dogma of molecular biology. Such high-dimensional molecular profiles pose challenges to data interpretation and hypothesis generation. ActivePathways is an ...
  • Rodríguez Martín, Bernardo; PCAWG Structural Variation Working Group; PCAWG Consortium; Ossowski, Stephan (Nature Research, 2020)
    About half of all cancers have somatic integrations of retrotransposons. Here, to characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,954 cancer genomes from ...
  • Reyna, Matthew A.; Haan, David; Paczkowska, Marta; Verbeke, Lieven P.C.; Vazquez, Miguel; Kahraman, Abdullah; Pulido-Tamayo, Sergio; Barenboim, Jonathan; Wadi, Lina; Dhingra, Priyanka; Shrestha, Raunak; Getz, Gad; Lawrence, Michael S.; Pedersen, Jackob S.; Rubin, Mark A.; Wheeler, David A.; Brunak, Søren; Izarzugaza, Jose M.G.; PCAWG Drivers and Functional Interpretation Working Group; PCAWG Consortium; Deu-Pons, Jordi; Gut, Ivo Glynne; Muiños, Ferran; Mularoni, Loris; Rubio Pérez, Carlota, 1990-; Tamborero Noguera, David (Nature Research, 2020)
    The catalog of cancer driver mutations in protein-coding genes has greatly expanded in the past decade. However, non-coding cancer driver mutations are less well-characterized and only a handful of recurrent non-coding ...
  • Li, Yilong; Roberts, Nicola D.; Wala, Jeremiah A.; Shapira, Ofer; Schumacher, Steven E.; Kumar, Kiran; Khurana, Ekta; Waszak, Sebastian; Korbel, Jan O.; Haber, James E.; Imielinski, Marcin; PCAWG Structural Variation Working Group; Weischenfeldt, Joachim; Beroukhim, Rameen; Campbell, Peter J.; PCAWG Consortium; Ossowski, Stephan (Nature Research, 2020)
    A key mutational process in cancer is structural variation, in which rearrangements delete, amplify or reorder genomic segments that range in size from kilobases to whole chromosomes1-7. Here we develop methods to group, ...
  • Bailey, Matthew H.; Drechsel, Oliver; Gut, Ivo Glynne; Ossowski, Stephan; Stobbe, Miranda D.; Gonzalez-Perez, Abel; PCAWG Consortium (Nature Research, 2020)
    The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part ...
  • Li, Constance H.; Stobbe, Miranda D.; Déu Pons, Jordi; Gonzalez-Perez, Abel; Muiños, Ferran; Mularoni, Loris; Pich Roselló, Oriol, 1992-; Rubio Pérez, Carlota, 1990-; Sabarinathan, Radhakrishnan; Tamborero Noguera, David; Heredia Genestar, José María, 1985-; Marquès i Bonet, Tomàs, 1975-; Navarro i Cuartiellas, Arcadi, 1969-; Bosio, Mattia; Demidov, German, 1990-; Drechsel, Oliver; Escaramís, Geòrgia; Estivill, Xavier, 1955-; Holik, Aliaksei Z.; Muyas Remolar, Francesc, 1992-; Ossowski, Stephan; Rabionet, Raquel; Sušak, Hana, 1985-; PCAWG Consortium (Nature Research, 2020)
    Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features ...
  • Alexandrov, Ludmil B.; López Bigas, Núria; PCAWG Consortium (Nature Research, 2020)
    Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature1. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium2 ...

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