SynthesisAnnals of oncology : official journal of the European Society for Medical Oncology2018
A mutational signature associated with alcohol consumption and prognostically significantly mutated driver genes in esophageal squamous cell carcinoma.
Synthesis in Annals of oncology : official journal of the European Society for Medical Oncology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 1 of them a synthesis that pooled it.
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Who cites it
72 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A practical framework RNMF for exploring the association between mutational signatures and genes using gene cumulative contribution abundance.Cancer medicine · 2022Pooled it
- The role of deubiquitinating enzymes and their inhibitors in esophageal carcinoma (Review).International journal of oncology · 2026Review
- Effects of ethanol and acetaldehyde on multi-organ genomic mutation landscapes.Cell biology and toxicology · 2026Article
- Advances in multi-omics for esophageal squamous cell carcinoma: diagnostic, prognostic, and therapeutic perspectives.Protein & cell · 2026Review
- Integrating genetic and transcriptomics data to predict neoadjuvant chemoradiotherapy for patients with esophageal squamous cell carcinoma.Journal of thoracic disease · 2026Article
- Mutational signature-based classification uncovers emerging oral cancer subtypes with distinct molecular patterns.International journal of oral science · 2026Article
- Esophageal cancer: from pathogenesis to precision therapies.Signal transduction and targeted therapy · 2026Review
- Comprehensive genomic analysis of non-BRCA familial breast cancer in an Arab population.NPJ breast cancer · 2026Article
- A signature-agnostic test for differences between tumor mutation spectra reveals carcinogen and ancestry effects.Communications biology · 2026Article
- Long-term exposure to the ethanol-derived metabolite acetaldehyde elevates structural genomic alterations but not base substitutions.Communications biology · 2026Article
- Ethnic genomic differences in esophageal squamous cell carcinoma: Whole-exome sequencing of Han and Kazakh populations in China.World journal of gastroenterology · 2025Article
- Chemotherapy-associated mutational process signature and genomic alterations associated with outcome in metastatic pancreatic cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Article
- GRPR-induced FAM135A expression promote perineural invasion in prostate cancer.Molecular cancer · 2025Article
- Oncogenic NFE2L2 mutations in plasma ctDNA and tumors are predictors and prognosticators of chemoradiation therapy in resectable esophageal squamous cell carcinoma.British journal of cancer · 2025Article
- Circulating tumor DNA as a marker of molecular residual disease in resected esophageal squamous cell carcinoma.Molecular biomedicine · 2025Article
- Genome-scale multi-organ analysis of mutagenic effects of ethanol and acetaldehyde in Sprague Dawley rats.bioRxiv : the preprint server for biology · 2025Article
- Analysis of Novel DNA Adducts Derived from Acetaldehyde.Biomolecules · 2025Article
- The EGR1-mediated lncRNA TENM3-AS1 potentiates gastric cancer metastasis via reprogramming fatty acid metabolism.Molecular cancer · 2025Article
- A signature-agnostic test for differences between tumor mutation spectra reveals carcinogen and ancestry effects.bioRxiv : the preprint server for biology · 2025Article
- Novel prognostic biomarkers in small cell lung cancer reveal mutational signatures, genomic mutations, and immune implications.Scientific reports · 2025Article
12 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors.
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Abstract
Background: Esophageal squamous cell carcinoma (ESCC) is often diagnosed at an advanced and incurable stage. Information on driver genes and prognosticators in ESCC remains incomplete. The objective was to elucidate significantly mutated genes (SMGs), mutational signatures, and prognosticators in ESCC. Patients and methods: Three MutSig algorithms (i.e. MutSigCV, MutSigCL and MutSigFN) and '20/20+' ratio-metric were employed to identify SMGs. Nonnegative matrix factorization was used to decipher mutational signatures. Kaplan-Meier survival analysis, multivariate Cox and logistic regression models were applied to analyze association between mutational features and clinical parameters. Results: We identified 26 SMGs, including 8 novel (NAV3, TENM3, PTCH1, TGFBR2, RIPK4, PBRM1, USP8 and BAP1) and 18 that have been previously reported. Three mutational signatures were identified to be prevalent in ESCC including clocklike C>T at CpG, APOBEC overactive C>T at TpCp[A/T], and a signature featured by T>C substitution. The T>C mutational signature was significantly correlated with alcohol consumption (OR: 3.59; 95% CI: 2.30-5.67; P < 0.001). This alcohol consumption signature was also observed in liver cancer and head and neck squamous cell carcinoma, and its mutational activity was substantially higher in samples with mutations in TP53. Survival analysis revealed that TENM3 mutations (HR: 5.54; CI: 2.68-11.45; P < 0.001) and TP53 hotspot mutation p.R213* (HR: 3.37; CI: 1.73-8.06; P < 0.001) were significantly associated with shortened survival outcome. The association remained statistically significant after controlling for age, gender, TNM stage and tumor grade. Conclusions: We have uncovered several new SMGs in ESCC and defined an alcohol consumption related mutational signature. TENM3 mutations and the TP53 hotspot mutation p.R213* are independent prognosticators for poor survival in ESCC.
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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.