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. 2023 Jul 15;14:4239. doi: 10.1038/s41467-023-39957-6

Fig. 8. Key genomic signatures underlying distinct exposures, expansion and outcomes during OAC evolution from pre-cancerous to advanced disease.

Fig. 8

SBS17a/b processes show a relative decrease in the primary tumours compared to Barrett and metastasis cases, and can be used as markers of transformation early within Barrett Oesophagus. Frequent subclonal changes appear for this signature. SBS30 appears elevated in Barrett Oesophagus and primary tumours, and is linked with worse survival. Several signatures including SBS2 and SBS40 are most highly represented in primary tumours and can be used to distinguish this stage. DDR signatures specifically elevated at distinct points during OAC evolution are also highlighted. Links between signatures and prognosis/diagnosis are highlighted: SBS17a/b presence marks increased proliferation and progression after treatment, SBS30 is associated with worse prognosis, while SBS2 and SBS40 signatures could be used to specifically distinguish (diagnose) primary tumours. P = prognosis, D = diagnosis; HR = homologous recombination; NER = nucleotide excision repair; BER = base excision repair; TLS = translesion synthesis; MMR = mismatch repair.