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Copy-Number Signature Architecture of Chromosomal Instability

#CancerGenomics #ChromosomalInstability #CopyNumberSignatures #MutationalSignatures #GenomeInstability #ComputationalOncology #Bioinformatics #DataVisualization
Copy-Number Signature Architecture of Chromosomal Instability I am sharing a visualization summarizing the relative contribution of 11 copy-number (CN) signatures associated with chromosomal instability (CIN) across a pan-cancer cohort. I want to state explicitly at the outset that the underlying data are simulated. The figure is not derived from a specific patient dataset; rather, it is constructed to illustrate a literature-grounded trend consistent with published CIN signature frameworks, and should be interpreted as a conceptual rather than empirical result. The plot adopts a radar bar-style format, with each of the 11 CIN signatures rendered as an angular segment whose radial length encodes its mean relative activity across the simulated cohort. This layout was chosen to emphasize the compositional structure of CIN etiologies within a single sample space, allowing simultaneous inspection of dominant and subdominant signature contributions. Mechanistically, these signatures are intended to reflect distinct genomic scars: impaired homologous recombination and replication stress producing tandem duplications and focal amplifications, defective mitotic segregation and whole-genome doubling generating chromosome-arm and whole-chromosome copy-number changes, and breakage-fusion-bridge cycles yielding characteristic segment-size and copy-number jump distributions. The simulated architecture recapitulates the expected skew, with a small number of signatures accounting for the majority of aggregate activity while lower-frequency signatures capture ecDNA-associated amplification and chromothripsis-like patterns. I offer this figure primarily as a communication and pedagogical aid for discussing how CN feature distributions - segment size, breakpoint count, copy-number state, and change-point magnitude - are decomposed into interpretable components.
August 19, 2026 at 10:52 PM