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Decoding complex patterns of genomic rearrangement in hepatocellular carcinoma

机译：肝细胞癌基因组重排的复杂模式

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摘要

Elucidating the molecular basis of hepatocellular carcinoma (HCC) is crucial to developing targeted diagnostics and therapies for this deadly disease. The landscape of somatic genomic rearrangements (GRs), which can lead to oncogenic gene fusions, remains poorly characterized in HCC. We have predicted 4314 GRs including large-scale insertions, deletions, inversions and translocations based on the whole-genome sequencing data for 88 primary HCC tumor/non-tumor tissues. We identified chromothripsis in 5 HCC genomes (5.7%) recurrently affecting chromosomal arms 1q and 8q. Albumin ( ALB) was found to harbor GRs, deactivating mutations and deletions in 10% of cohort. Integrative analysis identified a pattern of paired intra-chromosomal translocations flanking focal amplifications and asymmetrical patterns of copy number variation flanking breakpoints of translocations. Furthermore, we predicted 260 gene fusions which frequently result in aberrant over-expression of the 3' genes in tumors and validated 18 gene fusions, including recurrent fusion (2/88) of ABCB11 and LRP2.
机译：阐明肝细胞癌（HCC）的分子基础对致命疾病的靶向诊断和治疗至关重要。可以导致致癌基因融合的体细胞基因组重排（GRS）的景观仍然具有较差的HCC。我们已经预测了4314克，包括基于88个初级HCC肿瘤/非肿瘤组织的全基因组测序数据的大规模插入，缺失，逆转和旋转性。我们在5个HCC基因组（5.7％）中鉴定了Chromothripsis（5.7％）均匀地影响染色体臂1Q和8Q。发现白蛋白（ALB）在10％的群组中发现遗留族，失活突变和缺失。一致性分析确定了配对染色体型旋流性旋转侧面侧翼局部扩增的模式和拷贝数变异侧翼断裂点的不对称模式。此外，我们预测了260个基因融合，其经常导致肿瘤中的3'基因的异常表达和验证的18个基因融合，包括ABCB11和LRP2的复发融合（2/88）。

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  • 来源
    《Genomics》 |2014年第3期|共15页
  • 作者

    Fernandez-BanetJ.; LeeN.P.; ChanK.T.; GaoH.; LiuX.; SungW.-K.; TanW.; FanS.T.; PoonR.T.; LiS.; ChingK.; RejtoP.A.; MaoM.; KanZ.;

  • 作者单位

    Pfizer Oncology San Diego CA United States;

    Department of Surgery University of Hong Kong Hong Kong;

    Department of Surgery University of Hong Kong Hong Kong;

    BGI-Shenzhen Shenzhen China;

    BGI-Shenzhen Shenzhen China Department of Biology University of Copenhagen Copenhagen Denmark;

    School of Computing National University of Singapore Singapore Genome Institute of Singapore;

    Department of Surgery University of Hong Kong Hong Kong;

    Department of Surgery University of Hong Kong Hong Kong;

    Department of Surgery University of Hong Kong Hong Kong;

    BGI-Shenzhen Shenzhen China;

    Pfizer Oncology San Diego CA United States;

    Pfizer Oncology San Diego CA United States;

    Pfizer Oncology San Diego CA United States Asian Cancer Research Group Inc. Wilmington DE;

    Pfizer Oncology San Diego CA United States;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 医学遗传学;
  • 关键词

    Copy number variation; Genomic rearrangement; Hepatocellular carcinoma; Whole-genome sequencing;

    机译：复制数变异;基因组重排;肝细胞癌;全基因组测序;

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