Origins and impact of extrachromosomal DNA.

ABSTRACT: Extrachromosomal DNA (ecDNA) is a major contributor to treatment resistance and poor outcome for patients with cancer^1,2. Here we examine the diversity of ecDNA elements across cancer, revealing the associated tissue, genetic and mutational contexts. By analysing data from 14,778 patients with 39 tumour types from the 100,000 Genomes Project, we demonstrate that 17.1% of tumour samples contain ecDNA. We reveal a pattern highly indicative of tissue-context-based selection for ecDNAs, linking their genomic content to their tissue of origin. We show that not only is ecDNA a mechanism for amplification of driver oncogenes, but it also a mechanism that frequently amplifies immunomodulatory and inflammatory genes, such as those that modulate lymphocyte-mediated immunity and immune eff

SUBMITTER: Bailey C 

PROVIDER: S-EPMC11540846 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature