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Mutations driving CLL and their evolution in progression and relapse

机译:驱动CLL的突变及其在进展和复发中的进化

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Which genetic alterations drive tumorigenesis and how they evolve over the course of disease and therapy are central questions in cancer biology. Here we identify 44 recurrently mutated genes and 11 recurrent somatic copy number variations through whole-exome sequencing of 538 chronic lymphocytic leukaemia (CLL) and matched germline DNA samples, 278 of which were collected in a prospective clinical trial. These include previously unrecognized putative cancer drivers (RPS15, IKZF3), and collectiv
机译:哪些遗传改变驱动肿瘤发生,以及它们如何在疾病和治疗过程中演变,这是癌症生物学的核心问题。在这里,我们通过538个慢性淋巴细胞白血病(CLL)和匹配的种系DNA样品的全外显子测序,鉴定了44个重复突变的基因和11个重复的体细胞拷贝数变异,其中278个是在前瞻性临床试验中收集的。这些包括以前无法识别的推定癌症驱动程序(RPS15,IKZF3)和

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  • 来源
    《Nature》 |2015年第7574期|525-530|共6页
  • 作者单位

    Harvard Univ, Sch Med, Boston, MA 02115 USA.;

    Univ Ulm, Dept Internal Med 3, D-89081 Ulm, Germany.;

    Broad Inst Harvard & MIT, Cambridge, MA 02142 USA.;

    Broad Inst Harvard & MIT, Cambridge, MA 02142 USA.;

    Harvard Univ, Program Evolutionary Dynam, Cambridge, MA 02138 USA.;

    Univ Hosp, Ctr Integrated Oncol Cologne Bonn, D-50937 Cologne, Germany.;

    Univ Hosp, Ctr Integrated Oncol Cologne Bonn, D-50937 Cologne, Germany.;

    Harvard Univ, Dept Math, Cambridge, MA 02138 USA.;

    Broad Inst Harvard & MIT, Cambridge, MA 02142 USA.;

    Univ Hosp Schleswig Holstein, Dept Internal Med 2, D-24105 Kiel, Germany.;

    Harvard Univ, Sch Med, Brigham & Womens Hosp, Joint Ctr Canc Precis Med,Dana Farber Canc Inst, Boston, MA 02215 USA.;

    Broad Inst Harvard & MIT, Cambridge, MA 02142 USA.;

    German Canc Res Ctr, Mechanisms Leukemogenesis, D-69121 Heidelberg, Germany.;

    Broad Inst Harvard & MIT, Cambridge, MA 02142 USA.;

    Broad Inst Harvard & MIT, Cambridge, MA 02142 USA.;

    Broad Inst Harvard & MIT, Cambridge, MA 02142 USA.;

    Univ Ulm, Dept Internal Med 3, D-89081 Ulm, Germany.;

    Univ Ulm, Dept Internal Med 3, D-89081 Ulm, Germany.;

    Univ Hosp Schleswig Holstein, Dept Internal Med 2, D-24105 Kiel, Germany.;

    Univ Hosp Schleswig Holstein, Dept Internal Med 2, D-24105 Kiel, Germany.;

    Univ Hosp, Ctr Integrated Oncol Cologne Bonn, D-50937 Cologne, Germany.;

    Univ Hosp, Ctr Integrated Oncol Cologne Bonn, D-50937 Cologne, Germany.;

    Broad Inst Harvard & MIT, Cambridge, MA 02142 USA.;

    Broad Inst Harvard & MIT, Cambridge, MA 02142 USA.;

    Harvard Univ, Dept Organism & Evolutionary Biol, Cambridge, MA 02138 USA.;

    Univ Ulm, Dept Internal Med 3, D-89081 Ulm, Germany.;

    Cologne Cluster Excellence Cellular Stress Respon, D-50931 Cologne, Germany.;

    Dana Farber Canc Inst, Biostat & Computat Biol, Boston, MA 02115 USA.;

    Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02129 USA.;

    Univ Ulm, Dept Internal Med 3, D-89081 Ulm, Germany.;

    Harvard Univ, Sch Med, Boston, MA 02115 USA.;

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