Mertins Philipp, Mani D R, Ruggles Kelly V, Gillette Michael A, Clauser Karl R, Wang Pei, Wang Xianlong, Qiao Jana W, Cao Song, Petralia Francesca, Kawaler Emily, Mundt Filip, Krug Karsten, Tu Zhidong, Lei Jonathan T, Gatza Michael L, Wilkerson Matthew, Perou Charles M, Yellapantula Venkata, Huang Kuan-lin, Lin Chenwei, McLellan Michael D, Yan Ping, Davies Sherri R, Townsend R Reid, Skates Steven J, Wang Jing, Zhang Bing, Kinsinger Christopher R, Mesri Mehdi, Rodriguez Henry, Ding Li, Paulovich Amanda G, Fenyö David, Ellis Matthew J, Carr Steven A
The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Department of Biochemistry and Molecular Pharmacology, New York University Langone Medical Center, New York, New York 10016, USA.
Nature. 2016 Jun 2;534(7605):55-62. doi: 10.1038/nature18003. Epub 2016 May 25.
Somatic mutations have been extensively characterized in breast cancer, but the effects of these genetic alterations on the proteomic landscape remain poorly understood. Here we describe quantitative mass-spectrometry-based proteomic and phosphoproteomic analyses of 105 genomically annotated breast cancers, of which 77 provided high-quality data. Integrated analyses provided insights into the somatic cancer genome including the consequences of chromosomal loss, such as the 5q deletion characteristic of basal-like breast cancer. Interrogation of the 5q trans-effects against the Library of Integrated Network-based Cellular Signatures, connected loss of CETN3 and SKP1 to elevated expression of epidermal growth factor receptor (EGFR), and SKP1 loss also to increased SRC tyrosine kinase. Global proteomic data confirmed a stromal-enriched group of proteins in addition to basal and luminal clusters, and pathway analysis of the phosphoproteome identified a G-protein-coupled receptor cluster that was not readily identified at the mRNA level. In addition to ERBB2, other amplicon-associated highly phosphorylated kinases were identified, including CDK12, PAK1, PTK2, RIPK2 and TLK2. We demonstrate that proteogenomic analysis of breast cancer elucidates the functional consequences of somatic mutations, narrows candidate nominations for driver genes within large deletions and amplified regions, and identifies therapeutic targets.
体细胞突变在乳腺癌中已得到广泛研究,但这些基因改变对蛋白质组格局的影响仍知之甚少。在此,我们描述了对105例经基因组注释的乳腺癌进行的基于定量质谱的蛋白质组学和磷酸化蛋白质组学分析,其中77例提供了高质量数据。综合分析为体细胞癌基因组提供了见解,包括染色体缺失的后果,如基底样乳腺癌的5q缺失特征。针对基于综合网络的细胞特征库对5q的反式效应进行研究,发现CETN3和SKP1的缺失与表皮生长因子受体(EGFR)的表达升高有关,SKP1的缺失也与SRC酪氨酸激酶的增加有关。整体蛋白质组数据证实,除了基底和管腔簇之外,还存在一组富含基质的蛋白质,磷酸化蛋白质组的通路分析确定了一个在mRNA水平上不易识别的G蛋白偶联受体簇。除了ERBB2之外,还鉴定出了其他与扩增子相关的高度磷酸化激酶,包括CDK12、PAK1、PTK2、RIPK2和TLK2。我们证明,乳腺癌的蛋白质基因组分析阐明了体细胞突变的功能后果,缩小了大片段缺失和扩增区域内驱动基因的候选提名范围,并确定了治疗靶点。
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