維基百科

全基因組泛癌分析

全基因組泛癌分析（英語：Pan-Cancer Analysis of Whole Genomes，PCAWG）是由國際癌症基因組聯盟（ICGC）組織的一個國際性合作項目，對超過2600組癌細胞基因進行分析。

歷史

編輯

1984年，人類基因組計劃被提出，旨在測定人類染色體的核苷酸序列。[1]這一計劃自1990年啟動開始，於2003年完成。在這一計劃中，有研究者希望藉助同樣的手段，通過對腫瘤基因組的表徵，深入研究腫瘤。[2]因此，癌症基因組圖譜計劃（TCGA）於2006年啟動，對33個癌症類型和2萬個癌症以及正常組織的分子特徵進行測序分析。2008年，ICGC成立，負責系統性分析癌症基因突變。由於TCGA和ICGC的研究範圍重疊，為實現泛癌分析的標準化，提高研究效率，由來自超過700個研究機構的研究者共同形成了PCAWG聯盟，根據癌症基因的不同分析方向分為16個小組共同研究。

概述

編輯

PCAWG項目採納了來自2793名捐獻者的基因數據，數據總量接近800TB。[3]2020年2月，ICGC發表這一項目的研究成果，是目前最全面的癌症基因組分析。[4]

研究成果

編輯

2020年2月5日，PCAWG項目在Nature期刊上首先發表了6篇主要的研究成果。[4]Nature的多個子刊中也刊登了多個項目階段性成果。這6篇文章分別觸及癌症基因組攜帶的驅動突變、非編碼區域的改變、體細胞突變的特徵、結構變異、腫瘤基因進化歷程和RNA突變。

驅動突變

編輯

在對PCAWG數據庫中的38種腫瘤類型所包含的2658個腫瘤全基因組進行整體分析後發現，當統計編碼和非編碼序列時，每一個腫瘤基因組平均攜帶4-5個驅動突變。[5]

已發表研究

編輯
標題 發表刊物 發表時間 備註
Pan-cancer analysis of whole genomes Nature 2020-02-05 [6]
Patterns of somatic structural variation in human cancer genomes Nature 2020-02-05 [6]
The repertoire of mutational signatures in human cancer Nature 2020-02-05 [7]
The evolutionary history of 2,658 cancers Nature 2020-02-05 [8]
Genomic basis for RNA alterations in cancer Nature 2020-02-05 [9]
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes Nature 2020-02-05 [10]

參考文獻

編輯
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