ArticleScientific reports2021
Exome sequencing identifies novel somatic variants in African American esophageal squamous cell carcinoma.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- Prognostic analysis and treatment utilization of different treatment strategies in elderly esophageal cancer patients with distant metastases: a SEER database analysis.Journal of cancer research and clinical oncology · 2023Trial
- Advances in multi-omics for esophageal squamous cell carcinoma: diagnostic, prognostic, and therapeutic perspectives.Protein & cell · 2026Review
- Biomarkers for oesophageal squamous cell carcinoma and the role of HPV: Multi‑omics approaches and current evidence (Review).International journal of oncology · 2026Review
- Ethnic genomic diversity in esophageal squamous cell carcinoma.World journal of gastrointestinal oncology · 2026Review
- Preliminary examination of noncoding mutations of esophageal squamous cell carcinoma in African Americans.Frontiers in genetics · 2026Article
- Genome-scale multi-organ analysis of mutagenic effects of ethanol and acetaldehyde in Sprague Dawley rats.bioRxiv : the preprint server for biology · 2025Article
- POLE Deficiency Exacerbates Diesel Engine Exhaust-Induced Genomic Instability and Malignant Transformation of Bronchial Epithelial Cells.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- A Dirichlet-multinomial mixed model for determining differential abundance of mutational signatures.BMC bioinformatics · 2025Article
- Validation and Implementation of a Somatic-Only Tumor Exome for Routine Clinical Application.The Journal of molecular diagnostics : JMD · 2024Article
- Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients.Scientific reports · 2024Article
- Current status and perspectives of genetic testing in gastrointestinal cancer (Review).Oncology letters · 2024Review
- A Genomic Analysis of Esophageal Squamous Cell Carcinoma in Eastern Africa.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Article
- Somatic Mutational Landscape in Mexican Patients:International journal of molecular sciences · 2022Article
- Advances in esophageal organoids: from construction to applications.Journal of tissue engineeringReview
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Esophageal cancer has a strikingly low survival rate mainly due to the lack of diagnostic markers for early detection and effective therapies. In the U.S., 75% of individuals diagnosed with esophageal squamous cell carcinoma (ESCC) are of African descent. African American ESCC (AA ESCC) is particularly aggressive, and its biological underpinnings remain poorly understood. We sought to identify the genomic abnormalities by conducting whole exome sequencing of 10 pairs of matched AA esophageal squamous cell tumor and control tissues. Genomic analysis revealed diverse somatic mutations, copy number alterations (SCNAs), and potential cancer driver genes. Exome variants created two subgroups carrying either a high or low tumor mutation burden. Somatic mutational analysis based on the Catalog of Somatic Mutations in Cancer (COSMIC) detected SBS16 as the prominent signature in the high mutation rate group suggesting increased DNA damage. SBS26 was also detected, suggesting possible defects in mismatch repair and microsatellite instability. We found SCNAs in multiple chromosome segments, encoding MYC on 8q24.21, PIK3CA and SOX2 on 3q26, CCND1, SHANK2, CTTN on 11q13.3, and KRAS on 12p12. Amplifications of EGFRvIII and EGFRvIVa mutants were observed in two patients, representing a novel finding in ESCC that has potential clinical relevance. This present exome sequencing, which to our knowledge, represents the first comprehensive exome analysis exclusively in AA ESCC, and highlights novel mutated loci that might explain the aggressive nature of AA ESCC and lead to the development of diagnostic and prognostic markers as well as therapeutic targets.
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