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  • Genomic Biomarkers in Precision Therapy for Ovarian Cancer: Current Advances, Clinical Challenges, and Future Perspectives

  • Mobina Hassanzadeh Aliabadi,1,* Saba Moghadam nia ,2
    1. Department of Biology, SR.C., Islamic Azad University,Tehran, Iran
    2. Department of Biology, SR.C., Islamic Azad University,Tehran, Iran


  • Introduction: Ovarian cancer is the most lethal gynecological malignancy, primarily due to late diagnosis, aggressive progression course, and a high rate of recurrence. It remains the leading cause of cancer-related mortality among women, largely attributable to the absence of effective early screening strategies. Most patients are diagnosed at advanced stages (stage III-IV) (Ettorre et al. 2025). Ovarian cancer is the third most common gynecological cancer after cervical and uterine cancers, yet it exhibits a disproportionately higher mortality rate. The 5-year survival rate ranges from 20% in stage IV to 40% in stage III, 70% in stage II, and 90% in stage I. (Garg and Oza 2023). Standard common treatments for ovarian cancer (OC) include chemotherapy, radiotherapy, and surgical intervention. Improving survival in patients diagnosed at advanced stages requires addressing drug resistance, angiogenesis, recurrence, and metastasis (Sheik et al. 2026).
  • Methods: This poster summarizes recent literature on genomic biomarkers relevant to precision therapy for ovarian cancer, with emphasis on current advances, clinical challenges, and future perspectives.
  • Results: Seven major signaling pathways are commonly overexpressed (>50%) in ovarian cancers: PI3K/AKT/mTOR, Jak/STAT, Src, lysophosphatidic acid (LPA), NF-κB, PKCι, and Müllerian inhibitory substance receptor pathways. These pathways exhibited high levels of mutation or hyperactivation, which were strongly associated with aggressive phenotypes and advanced disease stages, and contributed to poor prognosis. Current research emphasizes the development of biomarkers and diagnostic tools to facilitate early diagnosis and prognosis. Molecular alterations in ovarian cancer are essential for selecting appropriate therapeutic agents to improve clinical outcomes (Akter et al. 2022). Research efforts have identified more than fifteen effective diagnostic biomarkers for ovarian cancer. The genetic landscape of ovarian cancer has been characterized by mutations in genes such as BRCA1 and BRCA2. BRCA1/2 were among the first biomarkers identified for ovarian cancer treatment. Although BRCA1/2 mutations predispose patients to multiple tumors, including breast cancer, their detection in ovarian cancer is paradoxically associated with a more favorable prognosis. These tumor suppressor genes are essential for DNA repair, cell cycle regulation, and the maintenance of genomic stability, thereby preventing the formation of abnormal cells and the development of certain cancers, particularly breast and ovarian cancer (López-Portugués, Montes-Bayón, and Díez 2024; Ettorre et al. 2025). BRCA1 and BRCA2 genes are located on chromosomes 17q21 and 13q12, respectively. Wild-type BRCA1/2 genes are critical for DNA repair via the homologous recombination (HR) pathway (Atallah et al. 2021). The application of omics technologies, which integrate genomic, transcriptional, epigenomic, proteomic, and metabolomic data, has created new opportunities for studying ovarian cancer biology. The consolidation of molecular information from multiple omics levels, known as multi-omics, enables a comprehensive understanding of carcinogenesis through interdisciplinary collaboration among molecular biologists, clinicians, and bioinformaticians. These studies demonstrate the potential of different multi-omics integration for discovering biologically and clinically relevant biomarkers (Kliuchnikova et al. 2025). Claudins are membrane proteins that serve as essential components of tight junctions in epithelial and endothelial cells. The human genome encodes 23 claudin genes, and 27 transmembrane domains have been identified in mammals. In ovarian cancer, several claudins are overexpressed compared to normal ovarian tissue, suggesting their potential utility as diagnostic biomarkers. Claudins also represent promising targets for novel therapeutic strategies. The primary claudins dysregulated in ovarian cancer include claudin-1, -3, -4, -5, -6, -7, and -16. Overexpression of CLDN1 is associated with increased tumor growth, invasion, induction of epithelial-mesenchymal transition (EMT), and poor prognosis. CLDN3 overexpression and EMT are associated with tumor progression and improved survival, whereas elevated CLDN4 expression correlates with therapy resistance, genomic instability, and increased metastasis, making CLDN4 a potential therapeutic target (Therachiyil, Bhat, and Uddin 2026). The use of next-generation sequencing technologies has improved knowledge of its molecular landscape, revealing persistent mutations of the tumor protein p53 (TP53), homologous recombination defects, pathway alterations, and epigenetic dysregulation. (Lewis et al. 2026).
  • Conclusion: This review examines biomarkers associated with ovarian cancer. BRCA1 and BRCA2 are established markers of the disease, and several signaling pathways have been identified that inform personalized therapy. Additionally, claudins are overexpressed in ovarian cancer, with several members exhibiting higher expression levels than in normal ovarian tissue .
  • Keywords: BRCA1, BRCA2, Biomarkers, Ovarian Cancer, molecular biologists

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