ArticleNature genetics2026
A breakage-replication/fusion process explains complex rearrangements and segmental DNA amplification.
Article in Nature genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Transposable Element Activation: A Hallmark of Cancer.Cancer discovery · 2026Review
- Chromosomal instability induced by CRISPR/Cas9: implications for pancreatic cancer therapy.The Journal of clinical investigation · 2026Article
- Three novel concomitant NTRK2 fusions in medullary thyroid carcinoma with diagnostic implications.Discover oncology · 2026Article
- Article
- Gene amplification in the premalignant stages of non-small cell lung cancer development.Frontiers in oncology · 2026Review
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4 authors.
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Abstract
Segmental copy-number gains are major contributors to human genetic variation and disease, but how these alterations arise remains incompletely understood. Here, based on the analyses of both experimental evolution and human disease genomes, we describe a general mechanism of segmental copy-number gain from a rearrangement process termed 'breakage-replication/fusion'. The hallmark genomic feature of breakage-replication/fusion is adjacent parallel breakpoints: two or more rearrangement breakpoints derived from replication of a single ancestral DNA end. We show that adjacent parallel breakpoints are a widespread feature of DNA duplications in human disease genomes and experimental models of chromothripsis. In addition to adjacent parallel breakpoints, breakage-replication/fusion also explains two other patterns of complex rearrangements with unclear provenance: chains of short (≤1 kb) insertions and high-level amplification consisting of inverted segments. Together, these findings revise the mechanistic model for chromothripsis and provide a new conceptual framework for understanding the origin of segmental DNA duplication during genome evolution.
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