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Related Concept Videos

  • Biomedical And Clinical Sciences
  • Oncology And Carcinogenesis
  • Predictive And Prognostic Markers
  • Systematical Identification Of Key Genes And Regulatory Genetic Variants Associated With Prognosis Of Esophageal Squamous Cell Carcinoma.
  • Biomedical And Clinical Sciences
  • Oncology And Carcinogenesis
  • Predictive And Prognostic Markers
  • Systematical Identification Of Key Genes And Regulatory Genetic Variants Associated With Prognosis Of Esophageal Squamous Cell Carcinoma.

    • Related Experiment Video

    Development of Compendium for Esophageal Squamous Cell Carcinoma
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    Published on: April 12, 2024

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    Systematical identification of key genes and regulatory genetic variants associated with prognosis of esophageal squamous cell carcinoma.

    Linglong Gu1, Xinying Yue1, Siyuan Niu1

    • 1Key Laboratory for Environment and Health, Department of Health Toxicology, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

    Molecular Carcinogenesis
    |February 21, 2024

    View abstract on PubMed

    Summary
    This summary is machine-generated.

    Researchers identified key genes and a specific genetic variant (rs11227223) linked to survival in esophageal squamous cell carcinoma (ESCC). This variant affects NEAT1 expression, offering potential for new prognostic tools and targeted therapies for this lethal cancer.

    Keywords:
    NEAT1esophageal cancergenetic variantslong noncoding RNAoverall survival

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    Area of Science:

    • Oncology
    • Genetics
    • Molecular Biology

    Background:

    • Esophageal squamous cell carcinoma (ESCC) is a deadly cancer with high recurrence and poor survival rates.
    • Identifying reliable prognostic markers for ESCC has been challenging despite extensive research.

    Purpose of the Study:

    • To systematically analyze gene expression data from ESCC patients to identify genes significantly associated with overall survival.
    • To discover genetic variants that can predict prognosis in ESCC.

    Main Methods:

    • Meta-analysis of four independent ESCC patient datasets (404 patients) to identify prognostic genes.
    • Examination of expression quantitative trait loci (eQTLs) for identified genes.
    • Genotyping of six tag single nucleotide polymorphisms (SNPs) in a larger cohort (904 patients).
    • Biochemical experiments to validate the functional role of a specific SNP (rs11227223) and its association with NEAT1 expression.

    Main Results:

    • Identified 278 genes significantly associated with ESCC prognosis.
    • Discovered six tag SNPs predictive of overall survival.
    • Highlighted rs11227223, located in the NEAT1 enhancer region, as a key variant.
    • Demonstrated that the rs11227223-T allele, associated with poorer prognosis, increases NEAT1 expression.

    Conclusions:

    • Nuclear paraspeckle assembly transcript 1 (NEAT1) and its regulatory variant rs11227223 play a significant role in ESCC prognosis.
    • This finding advances understanding of ESCC and suggests NEAT1 as a potential target for novel therapeutic interventions.