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- Title
Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements.
- Authors
Iñiguez-Muñoz, Sandra; Llinàs-Arias, Pere; Ensenyat-Mendez, Miquel; Bedoya-López, Andrés F.; Orozco, Javier I. J.; Cortés, Javier; Roy, Ananya; Forsberg-Nilsson, Karin; DiNome, Maggie L.; Marzese, Diego M.
- Abstract
Discoveries in the field of genomics have revealed that non-coding genomic regions are not merely "junk DNA", but rather comprise critical elements involved in gene expression. These gene regulatory elements (GREs) include enhancers, insulators, silencers, and gene promoters. Notably, new evidence shows how mutations within these regions substantially influence gene expression programs, especially in the context of cancer. Advances in high-throughput sequencing technologies have accelerated the identification of somatic and germline single nucleotide mutations in non-coding genomic regions. This review provides an overview of somatic and germline non-coding single nucleotide alterations affecting transcription factor binding sites in GREs, specifically involved in cancer biology. It also summarizes the technologies available for exploring GREs and the challenges associated with studying and characterizing non-coding single nucleotide mutations. Understanding the role of GRE alterations in cancer is essential for improving diagnostic and prognostic capabilities in the precision medicine era, leading to enhanced patient-centered clinical outcomes.
- Subjects
GENETIC mutation; GENE expression; TRANSCRIPTION factors; NON-coding DNA; BINDING sites; GENOMES
- Publication
Cellular & Molecular Life Sciences, 2024, Vol 81, Issue 1, p1
- ISSN
1420-682X
- Publication type
Article
- DOI
10.1007/s00018-024-05314-z