ArticleBMC genomics2018
Germline and somatic variations influence the somatic mutational signatures of esophageal squamous cell carcinomas in a Chinese population.
Article in BMC genomics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 24 citations in OpenAlex.
- Advances in multi-omics for esophageal squamous cell carcinoma: diagnostic, prognostic, and therapeutic perspectives.Protein & cell · 2026Review
- Squamous-state excursions activate APOBEC3A in cancer.bioRxiv : the preprint server for biology · 2026Article
- Ethnic genomic diversity in esophageal squamous cell carcinoma.World journal of gastrointestinal oncology · 2026Review
- Whole genome sequencing revealed esophageal squamous cell carcinoma related biomarkers.PloS one · 2025Article
- Circulating microRNAs as Potential Biomarkers in Pancreatic Cancer-Advances and Challenges.International journal of molecular sciences · 2023Review
- KRAS Hijacks the miRNA Regulatory Pathway in Cancer.Cancer research · 2023Article
- DNA cytosine deamination is associated with recurrent Somatic Copy Number Alterations in stomach adenocarcinoma.Frontiers in genetics · 2023Article
- Integrated cohort of esophageal squamous cell cancer reveals genomic features underlying clinical characteristics.Nature communications · 2022Article
- Somatic mutational profiles and germline polygenic risk scores in human cancer.Genome medicine · 2022Article
- Comparative genomic analysis of esophageal squamous cell carcinoma among different geographic regions.Frontiers in oncology · 2022Article
- Deciphering the expression patterns of homologous recombination-related lncRNAs identifies new molecular subtypes and emerging therapeutic opportunities in epithelial ovarian cancer.Frontiers in genetics · 2022Article
- Drug repositioning for esophageal squamous cell carcinoma.Frontiers in genetics · 2022Article
- The importance of CDC27 in cancer: molecular pathology and clinical aspects.Cancer cell international · 2021Review
- Next-Generation Sequencing Reveals High Uncommon EGFR Mutations and Tumour Mutation Burden in a Subgroup of Lung Cancer Patients.Frontiers in oncology · 2021Article
- Article
- Heterogeneous genomic aberrations in esophageal squamous cell carcinoma: a review.American journal of translational research · 2020Review
- CDC27 Promotes Tumor Progression and Affects PD-L1 Expression in T-Cell Lymphoblastic Lymphoma.Frontiers in oncology · 2020Article
- Article
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Authors and funding
12 authors at 4 institutions in 1 country.
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Abstract
backgroundEsophageal squamous cell carcinomas (ESCC) is the fourth most lethal cancer in China. Previous studies reveal several highly conserved mutational processes in ESCC. However, it remains unclear what are the true regulators of the mutational processes.
resultsWe analyzed the somatic mutational signatures in 302 paired whole-exome sequencing data of ESCC in a Chinese population for potential regulators of the mutational processes. We identified three conserved subtypes based on the mutational signatures with significantly different clinical outcomes. Our results show that patients of different subpopulations of Chinese differ significantly in the activity of the "NpCpG" signature (FDR = 0.00188). In addition, we report ZNF750 and CDC27, of which the somatic statuses and the genetic burdens consistently influence the activities of specific mutational signatures in ESCC: the somatic ZNF750 status is associated with the AID/APOBEC-related mutational process (FDR = 0.0637); the somatic CDC27 copy-number is associated with the "NpCpG" (FDR = 0.00615) and the AID/APOBEC-related mutational processes (FDR = 8.69 × 10
conclusionsWe report multiple factors that influence the mutational processes in ESCC including: the subpopulations of Chinese; the germline and somatic statuses of ZNF750 and CDC27 and exposure to alcohol and tobacco. Our findings based on the evidences from both germline and somatic levels reveal potential genetic regulators of the somatic mutational processes and provide insights into the biology of esophageal carcinogenesis.
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