ArticleNature genetics2014
Systematic analysis of noncoding somatic mutations and gene expression alterations across 14 tumor types.
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 192 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
192 citing papers in PubMed, 1 synthesis or guideline pooled it, 304 citations in OpenAlex.
- Association of Telomerase Reverse Transcriptase Promoter Mutations with the Prognosis of Glioma Patients: a Meta-Analysis.Molecular neurobiology · 2016Pooled it
- The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts.PLoS genetics · 2016Trial
- YAP1 induces hepatocellular carcinoma via DNA demethylation rather than by canonical driver gene mutations.Communications biology · 2026Article
- Molecular basis of UV lesion binding and repair inhibition by ETS-family transcription factors.Nucleic acids research · 2026Article
- Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders.The Journal of molecular diagnostics : JMD · 2026Article
- Non-B DNA structures and their contributions to genetic diversity, aging, and disease.Nucleic acids research · 2026Review
- Genome-wide analysis of somatic noncoding mutation patterns and mitochondrial heteroplasmic shift in type B1 and B2 thymomas.The Journal of pathology · 2026Article
- Molecular basis of UV lesion binding and repair inhibition by ETS-family transcription factors.bioRxiv : the preprint server for biology · 2026Article
- Evolving computational paradigms for noncoding variant pathogenicity prediction.Frontiers in molecular biosciences · 2026Review
- The Noncoding Mutational Landscape of Pancreatic Cancer Reveals Recurrent Somatic Mutations in Enhancer Regions.Cancer research communications · 2025Article
- Pan-cancer analysis shapes the understanding of cancer biology and medicine.Cancer communications (London, England) · 2025Review
- A multiscale functional map of somatic mutations in cancer integrating protein structure and network topology.Nature communications · 2025Article
- Shared pathogenesis in polycystic ovaries and rheumatoid arthritis: an analysis of key genes and pathways.Frontiers in genetics · 2025Article
- Mechanistic basis of atypical TERT promoter mutations.Nature communications · 2024Article
- Identifying barriers and opportunities to facilitate the uptake of whole genome sequencing in paediatric haematology and oncology practice.BMC medical education · 2024Article
- Melanoma-specific mutation hotspots in distal, non-coding, promoter-interacting regions implicate novel candidate driver genes.British journal of cancer · 2024Article
- A multiscale functional map of somatic mutations in cancer integrating protein structure and network topology.bioRxiv : the preprint server for biology · 2024Article
- Benefits for children with suspected cancer from routine whole-genome sequencing.Nature medicine · 2024Article
- Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements.Cellular and molecular life sciences : CMLS · 2024Review
- A comparative study of structural variant calling in WGS from Alzheimer's disease families.Life science alliance · 2024Article
132 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Somatic mutations in noncoding sequences are poorly explored in cancer, a rare exception being the recent identification of activating mutations in TERT regulatory DNA. Although this finding is suggestive of a general mechanism for oncogene activation, this hypothesis remains untested. Here we map somatic mutations in 505 tumor genomes across 14 cancer types and systematically screen for associations between mutations in regulatory regions and RNA-level changes. We identify recurrent promoter mutations in several genes but find that TERT mutations are exceptional in showing a strong and genome-wide significant association with increased expression. Detailed analysis of TERT across cancers shows that the strength of this association is highly variable and is strongest in copy number-stable cancers such as thyroid carcinoma. We additionally propose that TERT promoter mutations control expression of the nearby gene CLPTM1L. Our analysis provides a detailed pan-cancer view of TERT transcriptional activation but finds no clear evidence for frequent oncogenic promoter mutations beyond TERT.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.