Fig. 2: Genomic characteristics of the pre-cancer cohort. | Nature Communications

Fig. 2: Genomic characteristics of the pre-cancer cohort.

From: Multi-omic cross-sectional cohort study of pre-malignant Barrett’s esophagus reveals early structural variation and retrotransposon activity

Fig. 2

Samples are ordered by their total calculated numbers of structural variant (SV) events (n = 134). a Patient clinical features: maximum BE length (cm), gender, grade of patient at time of biopsy, patient group within the cohort. The patient grade indicates the highest grade which the patient had at the time point, but for the Barrett’s adjacent to cancer, for which the time point was cancer, the patient grade instead indicated the dysplasia status of the biopsy. Asterisks mark outlier cases discussed in more detail. b Total number of SV events per patient. Mean number of events (69.9) indicated by the dashed line. c Percentage of the genome with clonal and sub-clonal copy number aberrations (CNAs). d Total number of mutations/Mb. e Total number of driver gene alterations per sample. Mean of 1.95 shown by solid black line. f TP53 and ARID1A mutations. g Frequency of whole-genome doubling (WGD) and estimated biopsy cellularity calculated by Battenberg. hj Three cases highlighted as outliers in the continuum. h, i Examples of dysplastic cases lying to the left of the continuum (marked with a yellow asterisk in a black circle in a). j Indolent case with evidence of chromothripsis (marked with a blue asterisk in a black circle in a). For each case, the clinical details of age, gender, maximum length of the BE segment (cm), smoking status, grade of the patient, total follow-up length and computational cellularity of the biopsy are given. Genomic statistics and mutations in driver genes are detailed at the bottom. Circos plots to the right of each case summarise the dominant SV events occurring in each sample.

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