Decoding genomic rearrangements for cancer driver discovery

Enyoung Seo1, Sooyeon Park1, Inho Park2

  • 1Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul 03722, Republic of Korea; Department of Biomedical Sciences, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.

Molecules and Cells
|September 1, 2025
PubMed

Insights

Genomic rearrangements in cancer can create functional transcripts, acting as therapeutic targets. Advanced sequencing data aids in discovering these novel cancer drivers.

Area of Science:

  • Genomics
  • Cancer Biology
  • Bioinformatics

Background:

  • Somatic genomic rearrangements are frequent in human cancers, influencing gene expression and activity.
  • These rearrangements are driver events in about 25% of cancer patients, though most lack functional impact.
  • Functional transcripts from rearrangements, including intergenic fusions, can serve as crucial cancer drivers and therapeutic targets.

Purpose of the Study:

  • To review current knowledge on driver rearrangements as therapeutic targets.
  • To highlight recent discoveries of functional transcripts from non-canonical rearrangements.
  • To discuss computational methods for identifying novel drivers from large-scale genomic data.

Main Methods:

  • Review of existing literature on genomic rearrangements and cancer drivers.
  • Analysis of recent findings on functional transcripts and intergenic fusions.
  • Discussion of computational approaches for pattern decoding and driver discovery using whole-genome and RNA-sequencing data.

Main Results:

  • Genomic rearrangements are significant contributors to cancer development, with a subset acting as actionable therapeutic targets.
  • Novel functional transcripts, such as intergenic fusions, are being identified through advanced sequencing.
  • Computational tools are crucial for analyzing complex rearrangement patterns and discovering new drivers.

Conclusions:

  • Driver rearrangements represent a promising avenue for targeted cancer therapies.
  • Leveraging large-scale sequencing data and computational analysis is key to uncovering novel therapeutic targets.
  • Continued research into non-canonical rearrangements may reveal new strategies for cancer treatment.

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