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Integrative clinical genomics of metastatic cancer

CDKN2A 外显子组测序 生物 转录组 外显子组 PTEN公司 癌症 基因组学 DNA测序 生殖系 转移 计算生物学 癌症研究 基因组 基因 遗传学 基因表达 突变 细胞凋亡 PI3K/AKT/mTOR通路
作者
Dan R. Robinson,Yi-Mi Wu,Robert J. Lonigro,Pankaj Vats,Erin F. Cobain,Jessica N. Everett,Xuhong Cao,Erica Rabban,Chandan Kumar‐Sinha,Victoria M. Raymond,Scott M. Schuetze,Ajjai Alva,Javed Siddiqui,Rashmi Chugh,Francis P. Worden,Mark M. Zalupski,Jeffrey W. Innis,Rajen Mody,Scott A. Tomlins,David R. Lucas,Laurence H. Baker,Nithya Ramnath,Ann F. Schott,Daniel F. Hayes,Joseph Vijai,Kenneth Offit,Elena M. Stoffel,J. Scott Roberts,David C. Smith,Lakshmi P. Kunju,Moshe Talpaz,Marcin Cieślik,Arul M. Chinnaiyan
出处
期刊:Nature [Springer Nature]
卷期号:548 (7667): 297-303 被引量:759
标识
DOI:10.1038/nature23306
摘要

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. Clinical exome and transcriptome sequencing of 500 adult patients with metastatic solid tumours of diverse lineage and biopsy site, as part of the Michigan Oncology Sequencing (MI-ONCOSEQ) Program. Cancer cells often gain new mutations as they spread through the body from the primary tumour site and develop into metastatic tumours. Arul Chinnaiyan and colleagues report clinical whole exome and transcriptome sequencing of 500 adult patients with metastatic solid tumours of diverse lineages and biopsy sites, as part of the Michigan Oncology Sequencing (MI-ONCOSEQ) Program. The authors characterize the landscape of genomic alterations across metastatic cancers, including recurrent somatic alterations in TP53, CDKN2A, PTEN, PIK3CA and RB1. They also used clinical RNA sequencing to characterize gene fusions, transcriptional signatures and the immune microenvironment of metastatic cancer. A timely analysis of the genomic and molecular profiles of metastatic tumours could help to tailor anticancer therapies to patients more precisely than can profiling only primary tumours.
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