基因组
生物
癌症
计算生物学
体细胞
遗传学
癌症基因组测序
基因组学
进化生物学
基因
作者
Frank Dubois,Nikos Sidiropoulos,Joachim Weischenfeldt,Rameen Beroukhim
出处
期刊:Nature Reviews Cancer
[Springer Nature]
日期:2022-06-28
卷期号:22 (9): 533-546
被引量:26
标识
DOI:10.1038/s41568-022-00488-9
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.
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