癌症结构突变和3D基因组学

作者：SCI天天读

SCI

27 July 2022

Structural variations in cancer and the 3D genome（Nature Reviews Cancer, IF: 69.8）

Dubois F, Sidiropoulos N, Weischenfeldt J, Beroukhim R. Structural variations in cancer and the 3D genome. Nature Reviews Cancer 2022. DOI: 10.1038/s41568-022-00488-9.

Corresponding author: Joachim Weischenfeldt. joachim.weischenfeldt@bric.ku.dk，Rameen Beroukhim. Rameen Beroukhim@dfci.harvard.edu

Abstract | 摘要

Structural variations (SVs) affect more of the cancer genome than any other type of somatic genetic alteration but difficulties in detecting and interpreting them have limited our understanding. Clinical cancer sequencing also increasingly aims to detect SVs, leading to a widespread necessity to interpret their biological and clinical relevance. Recently, analyses of large whole-genome sequencing data sets revealed features that impact rates of SVs across the genome in different cancers. A striking feature has been the extent to which, in both their generation and their influence on the selective fitness of cancer cells, SVs are more specific to individual cancer types than other genetic alterations such as single-nucleotide variants. This Perspective discusses how the folding of the 3D genome, and differences in its folding across cell types, affect observed SV rates in different cancer types as well as how SVs can impact cancer cell fitness.

相较于其他任何一般来说的染色质基因改变，在结构上个体差异（SVs）对肺癌基因的冲击不够多，但是在发现和干预同类型面性的困难受限了我们的理解。临床肺癌脱氧核糖核酸也在愈来愈多地以发现SVs为目的，导致了阐明它们遗传学和临床关联的广泛前提。值得注意，对大型同类型基因脱氧核糖核酸数据集的分析方法阐明了冲击不尽相同肺癌中基因SVs发生率的相似性。SVs的一个显著相似性是，在其产生和对癌线粒体的选择适应力的冲击同类型面性，SVs比其他基因改变（如单胺基酸个体差异）对单个肺癌一般来说的特异性不够强。本文发表意见了3D基因的卷曲，以及不尽相同线粒体一般来说的卷曲差异，如何冲击不尽相同肺癌一般来说中观察到的SVs发生率，以及SVs如何冲击癌线粒体的适应力。

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