作者
Peter Priestley, Jonathan Baber, Martijn P Lolkema, Neeltje Steeghs, Ewart de Bruijn, Charles Shale, Korneel Duyvesteyn, Susan Haidari, Arne van Hoeck, Wendy Onstenk, Paul Roepman, Mircea Voda, Haiko J Bloemendal, Vivianne CG Tjan-Heijnen, Carla ML van Herpen, Mariette Labots, Petronella O Witteveen, Egbert F Smit, Stefan Sleijfer, Emile E Voest, Edwin Cuppen
发表日期
2019/11/7
期刊
Nature
卷号
575
期号
7781
页码范围
210-216
出版商
Nature Publishing Group UK
简介
Metastatic cancer is a major cause of death and is associated with poor treatment efficacy. A better understanding of the characteristics of late-stage cancer is required to help adapt personalized treatments, reduce overtreatment and improve outcomes. 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. 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%). 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 …
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