《英文文献/摘要翻译》站在时间尽头2012

1、Abstract

　　【Title：Pan-cancer whole-genome analyses of metastatic solid tumours】
　　【标题：针对转移实体瘤的泛癌症全基因组分析】

　　Metastatic cancer is a major cause of death and is associated with poor treatment efficacy.
　　转移癌症是死亡的主要原因之一，与治疗效果差有关。

　　A better understanding of the characteristics of the late-stage cancer is required to help adapt personalized treatments, reduce overtreatment and improve outcomes.
　　人们需要对于晚期癌症特性的更好理解，以帮助人们调整个性化疗法，减少过度治疗，提高效果。

　　Here we describe the largest, to our knowledge, pan-cancer study of metastatic solid tumour genomes, including whole-genome sequencing data for 2,520 pairs of tumour and normal tissue, analysed at median depths of 106× and 38×, respectively, and surveying more than 70 million somatic variants.
　　在这篇文章中，我们描述了针对转移实体瘤全基因组，据我们所知最广博的泛癌症研究，包括2520对肿瘤与正常组织的全基因组测序数据，研究分别在测序深度（测序得到的碱基总量与基因组大小比值，评价测序量的指标之一）中位数106x 和38x 处进行了分析，并纵览了超过七千万体细胞变体。

　　The characteristic mutations of metastatic lesions varied widely, with mutations that reflect those of the primary tumour types, and with high rates of whole-genome duplication events (56%).
　　转移灶特有的突变具广泛差异。突变反映了原发肿瘤的类型，且全基因组复制事件有较高发生率（56％）。

　　Individual metastatic lesions were relatively homogeneous, with the vast majority (96%) of driver mutations being clonal and up to 80% of tumour-suppressor genes being inactivated bi-allelically by different mutational mechanisms.
　　单个转移灶相对均质。绝大多数（96％）的驱动（基因）突变为克隆性，高达80％的肿瘤抑制基因通过不同的突变机制双等位失活。

　　Although metastatic tumour genomes showed similar mutational landscape and driver genes to primary tumours, we find characteristics that could contribute to responsiveness to therapy or resistance in individual patients.
　　尽管转移性肿瘤基因组显示出与原发肿瘤相似的突变态势和驱动基因，但我们发现了一些特性，可能会导致个体患者对治疗进行反应，或是抵抗（耐药）。

　　We implement an approach for the review of clinically relevant associations and their potential for actionability.
　　我们采用一种方法审查临床相关协会及其潜在可诉性。

　　For 62% of patients, we identify genetic variants that may be used to stratify patients towards therapies that either have been approved or are in clinical trials.
　　对于62％的患者，我们确定了一些基因变体，或可用于将患者分为两类，分别用已批准或正在临床试验中的疗法治疗。

　　This demonstrates the importance of comprehensive genomic tumour profiling for precision medicine in cancer.
　　这证明了全面的基因组肿瘤图谱对癌症方面精确医疗的重要性。

　　专业术语生词本：

metastatic：转移
tomour：肿瘤
variant：变体
mutation：突变
lesion：病灶