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The hidden risks of CRISPR/Cas: structural variations and genome integrity

Clotilde Aussel, Toni Cathomen, Carla Fuster‐García

2025Nature Communications39 citationsDOIOpen Access PDF

Abstract

CRISPR/Cas technology has revolutionized genome engineering, unlocking unprecedented therapeutic potential. However, beyond well-documented concerns of off-target (OT) mutagenesis, recent studies reveal a more pressing challenge: large structural variations (SVs), including chromosomal translocations and megabase-scale deletions, particularly in cells treated with DNA-PKcs inhibitors. These undervalued genomic alterations raise substantial safety concerns for clinical translation. As more CRISPR-based therapies progress toward the clinic, understanding and mitigating these risks is paramount. Here, we review emerging evidence on on-target aberrations and chromosomal translocations, identify key gaps in our understanding of the DNA repair pathways underlying these adverse effects, and discuss strategies to improve the safety of genome editing.

Topics & Concepts

CRISPRGenome editingComputational biologyBiologyMutagenesisChromosome engineeringGenomeGeneticsChromosomal translocationCas9Genome engineeringBioinformaticsMutationGeneCRISPR and Genetic EngineeringInnovation and Socioeconomic DevelopmentGenetics, Aging, and Longevity in Model Organisms
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