ArticleNature genetics2013
Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.
Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 459 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
459 citing papers in PubMed, 1 synthesis or guideline pooled it, 745 citations in OpenAlex.
- Systematic Review and Meta-analysis of the Most Common Genetic Mutations in Esophageal Squamous Cell Carcinoma.Journal of gastrointestinal cancer · 2022Pooled it
- Molecular mechanisms, current therapeutics, and emerging strategies in esophageal cancer: A comprehensive review.Chinese medical journal · 2026Review
- GSTT2 Switches from a Homeostatic Antioxidant to a Cell-Cycle-Coupled Factor in Therapy-Resistant Esophageal Adenocarcinoma.Cancers · 2026Article
- Understanding the Epigenetic Landscape of Barrett's Esophagus and Esophageal Cancer: A Review of Current Findings, Caveats and Future Directions.Genes, chromosomes & cancer · 2026Review
- Effects of ethanol and acetaldehyde on multi-organ genomic mutation landscapes.Cell biology and toxicology · 2026Article
- Esophageal cancer: from pathogenesis to precision therapies.Signal transduction and targeted therapy · 2026Review
- Single-Cell Transcriptomics Reveals Key Factors in Gastric Intestinal Metaplasia.Annals of surgical oncology · 2026Article
- Identification of isoform switching events linked with esophageal adenocarcinoma patient survival informs novel prognostic and therapeutic targets.Cell death & disease · 2026Article
- Immune exhaustion in esophageal cancer: interferon pathway dysregulation and neoadjuvant therapy response.Frontiers in cell and developmental biology · 2026Review
- Etiology and Pathophysiology of Barrett's Esophagus/Neoplasia.Digestion · 2026Review
- The biology and therapeutic implications of heterogeneity in Barrett oesophagus and oesophageal adenocarcinoma.Nature reviews. Clinical oncology · 2026Review
- Clonal cell states link gastroesophageal junction tissues with metaplasia and cancer.Nature communications · 2025Article
- Site-specific prevalence of the NFE2L2 mutation in esophageal squamous cell carcinoma.International journal of clinical oncology · 2025Article
- Mutations in CREBBP and EP300 HAT and Bromo Domains Drive Hypermutation and Predict Survival in GI Cancers Treated with Immunotherapy.Biomedicines · 2025Article
- Genome-scale multi-organ analysis of mutagenic effects of ethanol and acetaldehyde in Sprague Dawley rats.bioRxiv : the preprint server for biology · 2025Article
- Proteomic Profiling Informs Mechanisms of Esophageal Adenocarcinoma Inhibition by Cranberry Proanthocyanidins.Molecular nutrition & food research · 2025Article
- Evolutionary and immune microenvironment dynamics during neoadjuvant treatment of esophageal adenocarcinoma.Nature cancer · 2025Article
- Bioengineered Approaches for Esophageal Regeneration: Advancing Esophageal Cancer Therapy.Bioengineering (Basel, Switzerland) · 2025Review
- An overview of BAP1 biological functions and current therapeutics.Biochimica et biophysica acta. Reviews on cancer · 2025Review
- Gastroesophageal circulating tumor cell crosstalk with peripheral immune system guides CTC survival and proliferation.Cell death & disease · 2025Article
399 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
39 authors at 8 institutions in 1 country.
Funding
Abstract
The incidence of esophageal adenocarcinoma (EAC) has risen 600% over the last 30 years. With a 5-year survival rate of ~15%, the identification of new therapeutic targets for EAC is greatly important. We analyze the mutation spectra from whole-exome sequencing of 149 EAC tumor-normal pairs, 15 of which have also been subjected to whole-genome sequencing. We identify a mutational signature defined by a high prevalence of A>C transversions at AA dinucleotides. Statistical analysis of exome data identified 26 significantly mutated genes. Of these genes, five (TP53, CDKN2A, SMAD4, ARID1A and PIK3CA) have previously been implicated in EAC. The new significantly mutated genes include chromatin-modifying factors and candidate contributors SPG20, TLR4, ELMO1 and DOCK2. Functional analyses of EAC-derived mutations in ELMO1 identifies increased cellular invasion. Therefore, we suggest the potential activation of the RAC1 pathway as a contributor to EAC tumorigenesis.
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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.