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  • Genomic and molecular oncology of colorectal cancer

  • Zhovana Jabini,1,* Hasti Aghababaei,2
    1. Medical University Of Kurdistan
    2. Medical University Of Kurdistan


  • Introduction: Colorectal cancer (CRC) is the third leading cause of cancer-related deaths in the world, with its burden expected to increase by 60% by 2030.(1, 2) This life-threatening condition develops through mutations in various important signaling pathways in the colonic and rectal epithelial cells, turning them into invasive carcinoma. These genetic alterations influence oncogenes, tumor suppressor genes, and genes involved in DNA repair mechanisms. (3) Malignant cells that form in the large intestine lead to CRC, which includes the colon and the rectum. Since both of these regions share common characteristics, they get referred to as colorectal cancer.(4) The primary goals of genetic services are to help individuals understand their hereditary risks, explore available treatment options, and offer continuous support. Genetic counseling is important in guiding patients and helping them adapt to the medical, psychological and familial effects of genetic factors in diseases.(5)
  • Methods: Search strategy The goal of this study was to answer one question: What are the main genetic and epigenetic changes in the development of colorectal cancer (CRC)? To study this, we conducted a narrative literature review, as it allows flexibility in integrating findings emanating from diverse sources and providing a comprehensive overview of molecular alterations in CRC. It also helps to show research trends over time. We focused on papers published from January 2015 to May 2025; however, to provide a comprehensive overview, we also incorporated earlier studies. We also checked the references of main papers to find more related studies. Databases and sources used in this research were mainly: PubMed, web of science and google scholar. The following keywords were employed: "Colorectal Neoplasms"[Mesh] ("Chromosomal Instability"[Mesh]) AND "Microsatellite Instability"[Mesh] ((("Wnt Signaling Pathway"[Mesh]) OR "Mitogen-Activated Protein Kinases"[Mesh]) OR "Tumor Suppressor Protein p53"[Mesh]) OR "PIK3CA protein, human" [Supplementary Concept] "S-Adenosylmethionine"[Mesh] "Colorectal Neoplasms, Hereditary Nonpolyposis"[Mesh] "SEPTIN9 protein, human" [Supplementary Concept] "Cetuximab"[Mesh] "Bevacizumab"[Mesh] The search terms were combined using Boolean operators: AND or OR. Then, filters for publication date: January 2015 – May 2025, languages: English and study type were applied. Eligibility criteria After initial revisions, suggested improvements, and further polishing, roughly 50 references were used in putting together this manuscript. We selected references that gave broader and more collective overviews of colorectal cancer genetics. Studies providing comprehensive overviews of CRC genetics, molecular mechanisms, and epigenetic alterations were given priority. Our focus was on sources that discussed fundamental concepts rather than specialized ones. However, for sections such as biomarkers and therapeutic approaches, we covered recent publications to have detailed insight. Most of the included works were review and narrative articles; original research articles were used only where necessary to support a point. Limitations This study is a narrative review, so it has some limits. Due to the limited use of original research articles, some recent and noteworthy developments might have been underrepresented. Since we only were restricted to open-access references, the literature reviewed here might not include some very recent or specialized results. Also, despite the advances in precision diagnostics, colorectal cancer faces difficulties such as treatment resistance and variable responses to therapies.
  • Results: Colorectal cancer (CRC) results from genetic and epigenetic changes that interfere with normal cell growth and repair. Identification of essential mutations is crucial to provide optimal therapy selection and prognostic prediction for the patients, molecular classification can aid in personalized therapy and identification and early detection with an emphasis on inherited diseases like lynch syndrome. While treatment has been successful in some molecular subtypes, resistance and recurrence remain typical problems.
  • Conclusion: We emphasize the pivotal molecular pathways, the chromosomal instability (CIN), microsatellite instability (MSI), CpG island methylator phenotype (CIMP) that foster tumorigenesis in colorectal cancer in this review. We investigated mutations in major genes including APC, KRAS, BRAF, and TP53 and how DNA methylation also plays a role in oncogene activation. We further recognized the importance of the identification of a biomarker that can classify tumors and inform targeted therapies, which also investigated EGFR, BRAF, and VEGF inhibitors, and other tailored strategies like immune checkpoint inhibitors for MSI-H/dMMR tumors, But therapeutic resistance is still a significant clinical challenge. Because our focus was not primarily on original research articles and the review had a more general, overarching perspective, and given we were constrained to open-access references, some aspects considered highly specialized might have been barely touched upon.
  • Keywords: Colorectal cancer; Epigenetic alterations; Genomic alterations; DNA methylation; Lynch syndrome (LS)

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