Fig. 6. Complex structural variant analysis: mobile element insertions.
a Structural rearrangement signature (RS) proportions in the cohort: RS1 is dominated by clustered rearrangements; RS2 by unclustered translocations and deletions; RS3 by clustered translocations; RS4 is dominated by deletions; RS5 by tandem duplications >100 kb. Samples remain ordered by the total number of SV events with patient grade and cohort given. b TP53 mutation, breakage-fusion-bridge cycles (BFB) and chromothripsis events in the cohort. c The total number of mobile elements in each sample along the continuum. d Distribution of total mobile element insertion across different grades of samples. Indolent (n = 27), Dysplastic (n = 60), BE adjacent to EAC (n = 46). Boxplot centre line denotes median, box limits are upper and lower quartiles, whiskers denote 1.5* the interquartile range. Kruskal–Wallis test was used to compare groups. e Twenty-eight genes with oncogenic and tumour suppressor roles affected by recurrent (>3) mobile element insertions (as annotated by the Cancer Gene Consensus). f All genes are grouped by number of mobile element insertions and then their expression plotted. 0 (n = 17564), 1 (n = 1156), 2 (n = 277), 3 (n = 139), ≥4 (n = 190). Boxplot centre line denotes median, box limits are upper and lower quartiles, whiskers denote 1.5* the interquartile range. Kruskal–Wallis test was used to compare groups.