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. 2023 Oct 4;14:6203. doi: 10.1038/s41467-023-41805-6

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 6 — Arabic numbers represent outcomes of different sequences of BFB evolution as labeled in Supplementary Fig. 5D. Schematic diagrams of altered chromosomes are drawn according to the segmental DNA copy number. A (Top) Terminal deletion -> terminal duplication; (bottom) paracentric deletion -> two duplications near the centromeric break end. B (Top) Pericentric retention -> duplication at the q-terminus; (middle) paracentric deletion -> whole-chromosome duplication of the centromeric segment; (bottom) whole-chromosome duplication -> pericentric loss + terminal gain -> whole-genome duplication. Magenta lines represent joining between broken fragments. See Supplementary Fig. 6 for more examples. C Complementary copy-number gain and loss at a single breakpoint (dashed line) in HGD and IMEAC reflect two broken pieces of a single dicentric chromosome. The focally amplified region on the telomeric end in IMEAC is consistent with BFB amplifications either preceding or after the breakage event. D A series of terminal deletions on the same parental chromosome present in five lesions from patient 2. The proximal boundaries of the subclonal DNA loss near the 4q-terminus in HGD2 and clonal DNA loss in IMEAC2 suggest that IMEAC2 may have evolved from a subclone in HGD2. See Supplementary Fig. 7 for examples of the same pattern revealed in experimental BFB evolution. E Summary of SCNAs in related BE/EAC genomes reflecting divergent/branching BFB outcomes. See Supplementary Data 6 and “Online Data” for the copy-number plots of each instance.