2,658种癌症的演化史
Moritz Gerstung1,2,3, Clemency Jolly4, Ignaty Leshchiner5
1European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, UK. moritz.gerstung@ebi.ac.uk.
Nature
|February 7, 2020
概括
癌症是随着时间的推移而发生的基因组变化. 这项研究分析了2658种癌症, 揭示了突变和副本数量的改变如何影响瘤的发展, 提供了早期癌症检测的见解.
科学领域:
- 基因组学
- 癌症生物学
- 进化医学
背景情况:
- 癌症是由体进化引起的,基因组异常和突变过程推动了瘤的发展.
- 分析癌症基因组可以了解这些事件的发生时间及其进化历史.
研究的目的:
- 重建38种癌症类型的突变过程和驱动突变的进化史.
- 了解瘤发生过程中基因组变化的时间序列.
主要方法:
- 通过全癌症全基因组分析 (PCAWG) 联盟对2658个癌症样本进行全基因组测序.
- 国际癌症基因组联盟 (ICGC) 和癌症基因组图谱 (TCGA) 数据的分析.
- 癌症进化轨迹的计算重建.
主要成果:
- 早期瘤发生涉及特定的驱动基因突变和副本数量的增加 (例如,质母细胞瘤中的三位体7).
- 在进化过程中,40%的瘤发生突变性谱变化,后期显示驱动基因多样化和基因组不稳定性.
- 驱动器突变通常在癌症诊断前几年或几十年.
结论:
- 癌症进化是由早期和晚期基因组事件影响的不同轨迹的特征.
- 了解这些进化模式可以发现早期癌症检测的机会.
- 这项研究从基因组角度提供了全面的癌症发展时间表.
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