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. 2022 Mar 17;13:1407. doi: 10.1038/s41467-022-28237-4

Fig. 7. Breakage-fusion-bridge events and case examples of complex rearrangements.

Fig. 7

a Comparison of expression levels of genes both within (CDK12, ERBB2, RARA, SMARCE1) and outside (STAT5B, STAT3) the genomic locus undergoing break-fusion-bridge (BFB) events for samples affected by BFB to those without. BFB cases, n = 7, other cases, n = 61. Boxplot centre line denotes median, box limits are upper and lower quartiles, whiskers denote 1.5* the interquartile range. ***p-value < 0.001, ns no significance. Statistical significance was calculated using Wilcoxon signed-ranked test. b–d Circos plots for specific cases as examples of the complex rearrangements seen in dysplastic cases. The outer circle represents each chromosome. Translocations are indicated by the grey lines arcing from one region of the genome to another; the green lines indicate tandem duplications; red indicates deletions; blue signifies inversions. Adjacent to the circos plots are magnified regions showing the clustered events and resultant focal CNAs. b An IMC case, with extra-chromosomal DNA and extremely high copy number in two arms of chromosome 11, whereby one locus contains the CCND1 driver gene. c An IMC case dominated by tandem duplications and also showing characteristics of sub-telomeric BFB and chromothripsis in chromosome 2. d A HGD case displaying evidence of chromoplexy in chromosomes 3, 7, 16, 18 and X, as well as a complex BFB event in chromosome 7, involving the driver gene EGFR. e, f Two cases, one indolent, non-dysplastic and one with HGD, both displaying a distinct pattern of deletion in an area of low copy number junctions termed “rigma” at the fragile site FHIT locus.