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  • Pseudogenes in colorectal cancer: A systematic review

  • Ali Asadzadeh,1 Zahra Salehi,2,* Parmida Bagheri,3 Alireza Zangooie,4 Helia Zangooie,5
    1. Department of Biology, Payame Noor University, Shahre Rey, Iran. (ali.asadzade@yahoo.com)
    2. Research Institute for Oncology, Hematology and Cell Therapy, Tehran University of Medical Sciences, Tehran, Iran.
    3. Department of Biotechnology, Faculty of Life Sciences and Biotechnology, Shahid Beheshti University, Tehran, Iran. (p.bagheri1378@gmail.com)
    4. Cellular and Molecular Research Center, Birjand University of Medical Sciences, Birjnad, Iran. (alirezazangooie@gmail.com)
    5. Student Research Committee, Mashhad University of Medical Sciences, Mashhad, Iran


  • Introduction: Colorectal cancer (CRC) remains a leading cause of cancer-related mortality worldwide. While pseudogenes were historically considered non-functional genomic elements, recent research has revealed their significant contributions to CRC pathogenesis. This systematic review examines the emerging roles of pseudogenes in CRC tumorigenesis, particularly their potential as diagnostic/prognostic biomarkers and therapeutic targets. Key findings highlight several pseudogenes (e.g., DUXAP8, SUCLG2P2, SUMO1P3) that regulate critical cancer processes including proliferation, migration, and angiogenesis. Specific genetic variants (such as rs6983267 in POUSF1P1) demonstrate clinical potential for personalized medicine approaches. The review underscores how pseudogenes, once regarded as genomic "junk," are now recognized as valuable tools for advancing precision oncology in CRC management.
  • Methods: This systematic review followed PRISMA guidelines to analyze pseudogenes in colorectal cancer through comprehensive searches of PubMed, SCOPUS, and Web of Science databases. Two independent reviewers screened and extracted data from relevant studies, with 19 publications meeting the inclusion criteria. The analysis focused on evaluating pseudogenes' roles in CRC pathogenesis, their potential as diagnostic/prognostic biomarkers, and therapeutic targets. Key pseudogenes examined included DUXAP8, SUCLG2P2, and SUMO1P3 for tumorigenic mechanisms, and MYLKP1/POUSF1P1 for SNP-based biomarkers. The study methodology ensured rigorous, reproducible evaluation of pseudogene functions in CRC development and clinical applications.
  • Results: This systematic review of 19 studies reveals that pseudogenes play critical roles in colorectal cancer (CRC) progression, including proliferation, migration, and angiogenesis. Key pseudogenes like DUXAP8, SUCLG2P2, and SUMO1P3 regulate tumor growth, while MYLKP1 and POUSF1P1 SNPs serve as potential diagnostic biomarkers. Additionally, CTNNAP1 and NMRAL2P show promise as therapeutic targets. These findings highlight pseudogenes clinical relevance for CRC detection, prognosis, and personalized treatment, though further research is needed to validate their mechanisms and applications
  • Conclusion: This review establishes pseudogenes as key regulators in colorectal cancer, demonstrating their dual potential as diagnostic biomarkers (e.g., MYLKP1 SNPs) and therapeutic targets (e.g., DUXAP8). The findings underscore their clinical relevance for precision oncology, though further validation is needed to translate these discoveries into patient care. Ultimately, pseudogenes represent a promising frontier in CRC management, bridging molecular mechanisms with clinical applications.
  • Keywords: Colorectal cancer, Pseudogene, Tumorigenesis, Gene regulation

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