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  • Genomic Alterations in Cancer: Implications for Precision Diagnosis and Targeted Therapy

  • yasamin zahra janmohammadi,1,*
    1. Martyr Behroznejad


  • Introduction: Cancer is fundamentally a genetic disease driven by the accumulation of genomic alterations that disrupt normal cellular regulatory mechanisms. These alterations include point mutations, copy number variations, chromosomal rearrangements, and epigenetic modifications that contribute to tumor initiation and progression. Advances in high‑throughput sequencing technologies have significantly improved the understanding of cancer genomics, enabling the identification of actionable genetic alterations that can guide precision oncology. This review aims to summarize current knowledge on genomic alterations in cancer and their clinical implications for diagnosis, prognosis, and targeted therapy.
  • Methods: A comprehensive narrative review was conducted using major biomedical databases including PubMed, Scopus, and Web of Science. Peer‑reviewed articles, clinical trials, and systematic reviews published in recent years were analyzed. The literature search focused on key terms such as cancer genomics, genomic alterations, next‑generation sequencing, targeted therapy, and precision oncology.
  • Results: Genomic profiling has revealed a wide spectrum of genetic alterations across different cancer types. Mutations in genes such as TP53, KRAS, EGFR, BRAF, and BRCA1/2 play critical roles in tumorigenesis and are widely used as diagnostic and predictive biomarkers. The development of next‑generation sequencing (NGS) has enabled comprehensive genomic analysis, facilitating the detection of actionable mutations that can guide personalized therapeutic strategies. Targeted therapies directed against specific molecular pathways, such as EGFR inhibitors in lung cancer and PARP inhibitors in BRCA‑mutated cancers, have demonstrated significant clinical benefits. Additionally, genomic alterations are increasingly used to predict response to immunotherapy and to classify tumors into molecular subtypes with distinct prognostic implications. Despite these advances, challenges such as tumor heterogeneity, resistance to targeted therapies, and limited accessibility to genomic testing remain important barriers in clinical practice.
  • Conclusion: Understanding genomic alterations in cancer has transformed modern oncology by enabling more accurate diagnosis and personalized treatment strategies. The integration of genomic technologies into clinical practice continues to expand the scope of precision oncology and offers new opportunities for improving cancer management and patient outcomes. Future research focusing on multi‑omics integration, liquid biopsy technologies, and large‑scale genomic studies will further enhance the clinical impact of cancer genomics.
  • Keywords: Cancer Genomics, Genomic Alterations, Precision Oncology, Targeted Therapy, Next‑Generation Sequenci

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