Tumor molecular profiling is a fundamental component of precision oncology, enabling the identification of genomic alterations in genes and pathways that can be targeted therapeutically. The existence of recurrent targetable alterations across distinct histologically defined tumor types, coupled with an expanding portfolio of molecularly targeted therapies, demands flexible and comprehensive approaches to profile clinically relevant genes across the full spectrum of cancers. We established a large-scale, prospective clinical sequencing initiative using a comprehensive assay, MSK-IMPACT, through which we have compiled tumor and matched normal sequence data from a unique cohort of more than 10,000 patients with advanced cancer and available pathological and clinical annotations. Using these data, we identified clinically relevant somatic mutations, novel noncoding alterations, and mutational signatures that were shared by common and rare tumor types. Patients were enrolled on genomically matched clinical trials at a rate of 11%. To enable discovery of novel biomarkers and deeper investigation into rare alterations and tumor types, all results are publicly accessible.

中文翻译：

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10,000名患者的前瞻性临床测序揭示了转移性癌症的突变情况。

肿瘤分子谱分析是精密肿瘤学的基本组成部分，可以鉴定可治疗性靶向的基因和途径中的基因组改变。跨越不同的组织学定义的肿瘤类型的复发性可靶向改变的存在，以及不断扩大的分子靶向疗法组合，需要灵活而全面的方法来在整个癌症范围内对临床相关基因进行分析。我们使用综合测定MSK-IMPACT建立了大规模的前瞻性临床测序计划，通过该计划，我们编译了肿瘤并匹配了来自10,000多名患有晚期癌症的患者的独特队列中的正常序列数据，并提供了病理和临床注释。利用这些数据，我们确定了临床相关的体细胞突变，新的非编码改变，以及常见和罕见肿瘤类型共有的突变特征。参加基因组匹配的临床试验的患者比例为11％。为了能够发现新的生物标志物并更深入地研究罕见的改变和肿瘤类型，所有结果均可公开获得。