Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, for which whole-genome and-for a subset-whole-transcriptome sequencing data from 2,658 cancers across 38 tumor types was aggregated, we systematically investigated potential viral pathogens using a consensus approach that integrated three independent pipelines. Viruses were detected in 382 genome and 68 transcriptome datasets. We found a high prevalence of known tumor-associated viruses such as Epstein-Barr virus (EBV), hepatitis B virus (HBV) and human papilloma virus (HPV; for example, HPV16 or HPV18). The study revealed significant exclusivity of HPV and driver mutations in head-and-neck cancer and the association of HPV with APOBEC mutational signatures, which suggests that impaired antiviral defense is a driving force in cervical, bladder and head-and-neck carcinoma. For HBV, HPV16, HPV18 and adeno-associated virus-2 (AAV2), viral integration was associated with local variations in genomic copy numbers. Integrations at the TERT promoter were associated with high telomerase expression evidently activating this tumor-driving process. High levels of endogenous retrovirus (ERV1) expression were linked to a worse survival outcome in patients with kidney cancer.

中文翻译：

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人类癌症中病毒关联的景观。

在这里，作为全基因组泛癌症分析 (PCAWG) 联盟的一部分，我们汇总了来自 38 种肿瘤类型的 2,658 种癌症的全基因组和子集-全转录组测序数据，我们系统地研究了潜在的病毒病原体使用集成三个独立管道的共识方法。在 382 个基因组和 68 个转录组数据集中检测到病毒。我们发现已知肿瘤相关病毒的流行率很高，例如爱泼斯坦-巴尔病毒 (EBV)、乙型肝炎病毒 (HBV) 和人乳头瘤病毒（HPV；例如，HPV16 或 HPV18）。该研究揭示了 HPV 和驱动突变在头颈癌中的显着排他性以及 HPV 与 APOBEC 突变特征的关联，这表明受损的抗病毒防御是宫颈癌、膀胱癌和头颈癌的驱动力。对于 HBV、HPV16、HPV18 和腺相关病毒 2 (AAV2)，病毒整合与基因组拷贝数的局部变异相关。TERT 启动子的整合与端粒酶的高表达相关，明显激活了这种肿瘤驱动过程。高水平的内源性逆转录病毒 (ERV1) 表达与肾癌患者较差的生存结果有关。