Pan-cancer analysis of somatic mutations and epigenetic alterations in insulated neighbourhood boundaries.

ABSTRACT: Recent evidence shows that the disruption of constitutive insulated neighbourhoods might lead to oncogene dysregulation. We present here a systematic pan-cancer characterisation of the associations between constitutive boundaries and genome alterations in cancer. Specifically, we investigate the enrichment of somatic mutation, abnormal methylation, and copy number alteration events in the proximity of CTCF bindings overlapping with topological boundaries (junctions) in 26 cancer types. Focusing on CTCF motifs that are both in-boundary (overlapping with junctions) and active (overlapping with peaks of CTCF expression), we find a significant enrichment of somatic mutations in several cancer types. Furthermore, mutated junctions are significantly conserved across cancer types, and we also obs

SUBMITTER: Pinoli P 

PROVIDER: S-EPMC6964824 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature