Decoding genomic rearrangements for cancer driver discovery

IF 6.5 3区生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY

Molecules and Cells Pub Date : 2025-08-30 DOI:10.1016/j.mocell.2025.100272

Enyoung Seo , Sooyeon Park , Inho Park , Jinhyuk Bhin

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引用次数: 0

Abstract

Somatically acquired genomic rearrangements are common genomic alterations that contribute to malignancy by altering the expression or activity of cancer-related genes in human cancer. Genomic rearrangements play a crucial role in tumor development by contributing to driver events in approximately 25% of cancer patients. Most rearrangements are nonrecurrent and lack functional impact. However, some rearrangements produce functional transcripts and act as cancer drivers that may be therapeutic targets. The growing availability of whole-genome and matched RNA-sequencing data from large patient cohorts offers tremendous opportunities to identify novel, clinically relevant drivers arising from genomic rearrangements. In this review, we summarize current knowledge of driver rearrangements as therapeutic targets and highlight recent discoveries of functional transcripts such as intergenic fusions generated by noncanonical rearrangements. We also discuss computational approaches to decode rearrangement patterns and leverage large-scale whole-genome data to discover novel drivers.

查看原文本刊更多论文

解码癌症中的基因组重排：新驱动发现之路。

体细胞获得性基因组重排是通过改变人类癌症相关基因的表达或活性而导致恶性肿瘤的常见基因组改变。在大约25%的癌症患者中，基因组重排在肿瘤发展中起着至关重要的作用。大多数重排是非经常性的，缺乏功能影响。然而，一些重排产生功能性转录本，并作为可能成为治疗靶点的癌症驱动因子。来自大型患者队列的全基因组和匹配rna测序数据的不断增加，为鉴定基因组重排引起的新的临床相关驱动因素提供了巨大的机会。在这篇综述中，我们总结了驱动重排作为治疗靶点的现有知识，并强调了最近发现的功能性转录本，如由非规范重排产生的基因间融合。我们还讨论了解码重排模式的计算方法，并利用大规模全基因组数据来发现新的驱动因素。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecules and Cells 生物-生化与分子生物学

CiteScore

6.60

自引率

10.50%

发文量

审稿时长

2.3 months

期刊介绍： Molecules and Cells is an international on-line open-access journal devoted to the advancement and dissemination of fundamental knowledge in molecular and cellular biology. It was launched in 1990 and ISO abbreviation is "Mol. Cells". Reports on a broad range of topics of general interest to molecular and cell biologists are published. It is published on the last day of each month by the Korean Society for Molecular and Cellular Biology.