作者
Christina Curtis, Sohrab P Shah, Suet-Feung Chin, Gulisa Turashvili, Oscar M Rueda, Mark J Dunning, Doug Speed, Andy G Lynch, Shamith Samarajiwa, Yinyin Yuan, Stefan Gräf, Gavin Ha, Gholamreza Haffari, Ali Bashashati, Roslin Russell, Steven McKinney, METABRIC Group Co-chairs Caldas Carlos Aparicio Samuel saparicio@ bccrc. ca 17 18 c, Writing committee Curtis† Christina 15 16 Shah Sohrab P. 17 18 Caldas Carlos Aparicio Samuel saparicio@ bccrc. ca 17 18 e, Steering committee Brenton James D. 15 16 Ellis Ian 19 Huntsman David 17 18 Pinder Sarah 20 Purushotham Arnie 20 Murphy Leigh 21 Caldas Carlos Aparicio Samuel saparicio@ bccrc. ca 17 18 j, British Columbia Cancer Agency Aparicio Samuel saparicio@ bccrc. ca 17 18 b Chia Steven 18 Gelmon Karen 18 Huntsman David 17 18 McKinney Steven 17 18 Speers Caroline 18 Turashvili Gulisa 17 18 Watson Peter 17 18 21, University of Nottingham Ellis Ian 19 Blamey Roger 19 Green Andrew 19 Macmillan Douglas 19 Rakha Emad 19, King’s College London Purushotham Arnie 20 Gillett Cheryl 20 Grigoriadis Anita 20 Pinder Sarah 20 de Rinaldis Emanuele 20 Tutt Andy 20, Manitoba Institute of Cell Biology Murphy Leigh 21 Parisien Michelle 21 Troup Sandra 21, British Columbia Cancer Agency Aparicio Samuel saparicio@ bccrc. ca 17 18 b Turashvili Gulisa 17 18 Bell Lynda 18 Chow Katie 18 Gale Nadia 18 Huntsman David 17 18 Kovalik Maria 18 Ng Ying 18 Prentice Leah 18, British Columbia Cancer Agency Aparicio Samuel saparicio@ bccrc. ca 17 18 b Shah Sohrab P. 17 18 Bashashati Ali 17 Ha Gavin 17 Haffari Gholamreza 17 McKinney Steven 17 18
发表日期
2012/6/21
期刊
Nature
卷号
486
期号
7403
页码范围
346-352
出版商
Nature Publishing Group UK
简介
The elucidation of breast cancer subgroups and their molecular drivers requires integrated views of the genome and transcriptome from representative numbers of patients. We present an integrated analysis of copy number and gene expression in a discovery and validation set of 997 and 995 primary breast tumours, respectively, with long-term clinical follow-up. Inherited variants (copy number variants and single nucleotide polymorphisms) and acquired somatic copy number aberrations (CNAs) were associated with expression in ∼40% of genes, with the landscape dominated by cis- and trans-acting CNAs. By delineating expression outlier genes driven in cis by CNAs, we identified putative cancer genes, including deletions in PPP2R2A, MTAP and MAP2K4. Unsupervised analysis of paired DNA–RNA profiles revealed novel subgroups with distinct clinical outcomes, which reproduced in the validation cohort …
引用总数
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C Curtis, SP Shah, SF Chin, G Turashvili, OM Rueda… - Nature, 2012