期刊
NATURE
卷 548, 期 7667, 页码 297-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nature23306
关键词
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资金
- National Institutes of Health (NIH) Clinical Sequencing Exploratory Research Award [NIH 1UM1HG006508]
- Prostate Cancer Foundation, Stand Up 2 Cancer (SU2C)-Prostate Cancer Foundation Prostate Dream Team Grant [SU2C-AACR-DT0712]
- Early Detection Research Network [U01 CA214170]
- Prostate SPORE grant [P50 CA186786]
- PCF Young Investigator Award
Metastasis is the primary cause of cancer-related deaths. Although The Cancer Genome Atlas has sequenced primary tumour types obtained from surgical resections, much less comprehensive molecular analysis is available from clinically acquired metastatic cancers. Here we perform whole-exome and -transcriptome sequencing of 500 adult patients with metastatic solid tumours of diverse lineage and biopsy site. The most prevalent genes somatically altered in metastatic cancer included TP53, CDKN2A, PTEN, PIK3CA, and RB1. Putative pathogenic germline variants were present in 12.2% of cases of which 75% were related to defects in DNA repair. RNA sequencing complemented DNA sequencing to identify gene fusions, pathway activation, and immune profiling. Our results show that integrative sequence analysis provides a clinically relevant, multi-dimensional view of the complex molecular landscape and microenvironment of metastatic cancers.
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