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Copy number alterations unmasked as enhancer hijackers

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Our understanding of how DNA copy number changes contribute to disease, including cancer, has to a large degree been focused on the changes in gene dosage that they generate and has neglected the effects of the DNA rearrangements that lead to their formation. A new study reports an innovative analytical framework for copy number alterations that are oncogenic primarily owing to the genomic rearrangements that underlie them.

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Figure 1: Oncogenic rearrangement topologies that rely on changes in relative placement of genes near regulatory elements rather than simple changes in gene dosage.

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Correspondence to Matthew Meyerson.

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Competing interests

R.B. receives research support from and is a consultant for Novartis. M.M. receives research support from Bayer and is a founding advisor of Foundation Medicine, for which he was previously a consultant and in which he previously held equity.

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Beroukhim, R., Zhang, X. & Meyerson, M. Copy number alterations unmasked as enhancer hijackers. Nat Genet 49, 5–6 (2017). https://doi.org/10.1038/ng.3754

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