Data from Leveraging Tissue-Specific Enhancer–Target Gene Regulatory Networks Identifies Enhancer Somatic Mutations That Functionally Impact Lung Cancer

• DOI: 10.1158/0008-5472.c.7002668.v1
• Publication Date: 2024-01-02T08:21:36Z
• Authors: Judith Mary Harip...; Elisa Salviato; Federica La Mastra; Endre Sebestyén; Ilario Tagliaferri; Raquel Sofia Silva; Federica Lucini; Lorenzo Farina; Mario Cinquanta; Ilaria Rancati; Mirko Riboni; Simone Paolo Minardi; Luca Roz; Francesca Gorini; Chiara Lanzuolo; Stefano Casola; Francesco Ferrari
• Keywords: Enhancer RNAs; Epigenomics

<div>Abstract<p>Enhancers are noncoding regulatory DNA regions that modulate the transcription of target genes, often over large distances along with genomic sequence. Enhancer alterations have been associated various pathological conditions, including cancer. However, identification and characterization somatic mutations in a functional effect on tumorigenesis prognosis remain major challenge. Here, we present strategy for detecting characterizing enhancer genome-wide analysis patient cohorts, across three lung cancer subtypes. Lung tissue–specific enhancers were defined by integrating experimental data public epigenomic profiles, enhancer–target gene network cells was constructed chromatin three-dimensional architecture data. cancers possessed similar mutation burden at tissue-specific exons but differences their signatures. Functionally relevant prioritized basis pathway-level integration frequency individual enhancers. The genes enriched mutated converged regulation key biological processes pathways to tumor biology. Recurrent also affected expression potential relevance prognosis. Together, these findings show pathogenesis can be exploited classification.</p>Significance:<p>Mapping interactions analyzing level reveal convergence recurrent involved prognosis.</p></div>