2015年11月16日訊 /生物谷BIOON/ --在癌症的發生過程中，許多基因都會發生突變並出現功能紊亂，而越來越多的研究也發現這些發生突變的基因或可作為癌症的診斷標記或靶向治療得到進一步開發，幫助癌症的臨床診斷和治療。
近日，來自日本、丹麥和澳大利亞的科學家在國際學術期刊Cancer Research上發表了一項最新研究進展，他們利用轉錄組分析的方法對多種癌症類型中反覆出現的一些基因突變進行了揭示，而這些新發現的基因突變或可作為潛在生物標記在癌症的臨床診斷和靶向治療過程中發揮重要作用。
為了全面揭示能夠用於癌症臨床診斷和治療的靶向基因，研究人員首先對225種不同癌細胞系及與其相對應的339個原代細胞樣本進行了基因表達分析，發現了一些在多種癌症類型中反覆出現失調的轉錄本。之後研究人員又對TCGA和FANTOM5數據集中4055個腫瘤組織和563個健康組織的RNA-seq數據進行對比，最終發現了具有臨床治療診斷價值的一組核心轉錄本。
除此之外，該研究還發現了一些在癌症中出現上調的增強子RNA以及與癌症中經常出現上調的一些重複元件（特別是SINE/Alu和LTR/ERV1元件）發生部分重疊的啟動子。
總得來說，這項基於全基因組表達譜的分析方法比較全面地發現了一些或可用於標識多種癌症類型的候選生物標記，同時也大大拓展了人們對於重複序列元件在癌症發生過程以及癌症預測方面發揮重要性作用的認識。（生物谷Bioon.com）
Transcriptome analysis of recurrently deregulated genes across multiple cancers identifies new pan-cancer biomarkers.
Bogumil Kaczkowski1,*, Yuji Tanaka1, Hideya Kawaji2, Albin Sandelin3, Robin Andersson4, Masayoshi Itoh2, Timo Lassmann5, the FANTOM5 consortium, Yoshihide Hayashizaki6, Piero Carninci1, and Alistair R. Forrest
Genes that are commonly deregulated in cancer are clinically attractive as candidate pan-diagnostic markers and therapeutic targets. To globally identify such targets, we compared Cap Analysis of Gene Expression (CAGE) profiles from 225 different cancer cell lines and 339 corresponding primary cell samples to identify transcripts that are deregulated recurrently in a broad range of cancer types. Comparing RNA-seq data from 4,055 tumors and 563 normal tissues profiled in the TCGA and FANTOM5 datasets, we identified a core transcript set with theranostic potential. Our analyses also revealed enhancer RNAs which are upregulated in cancer, defining promoters which overlap with repetitive elements (especially SINE/Alu and LTR/ERV1 elements) that are often upregulated in cancer. Lastly, we documented for the first time upregulation of multiple copies of the REP522 interspersed repeat in cancer. Overall, our genome-wide expression profiling approach identified a comprehensive set of candidate biomarkers with pan-cancer potential, and extended the perspective and pathogenic significance of repetitive elements which are frequently activated during cancer progression.