Identification of Genetic Polymorphism of Centrosomal Protein 290 to Assess Its Role as A Novel Diagnostic and Prognostic Biomarker for Ovarian Cancer: Centrosomal Protein 290K: Diagnostic and Prognostic Biomarker for Ovarian Cancer

Ambreen Tauseef; Sana Batool; Zaima Ali; Uzma Zargham

doi:10.54393/pjhs.v6i5.2909

Authors

Ambreen Tauseef Department of Physiology, CMH Lahore Medical College and Institute of Dentistry/National University of Medical Sciences, Rawalpindi, Pakistan
Sana Batool School of Biological Sciences, University of Punjab, Lahore, Pakistan
Zaima Ali Department of Physiology, Lahore Medical & Dental College, Lahore, Pakistan
Uzma Zargham Department of Physiology, Lahore Medical & Dental College, Lahore, Pakistan

DOI:

https://doi.org/10.54393/pjhs.v6i5.2909

Keywords:

Centrosomal Protein 290, Polymorphism, Ovarian Cancer, Genetic Variation

Abstract

Ovarian cancer (OC) is one of the most lethal gynecological malignancies, with the dilemma of diagnosing at an advanced stage due to the lack of sensitive early detection markers. Centrosomal protein 290 (CEP290) is important for various functions within cellular processes, and its genetic changes may contribute to tumor development and progression. Identifying polymorphisms in the CEP290 gene could provide valuable insights into its potential as a novel diagnostic and prognostic biomarker for OC. Objective: To identify genetic polymorphism of CEP 290 in ovarian cancer and to determine its role as a novel prognostic and diagnostic biomarker for OC. Methods: A genetic profiling methodology was utilized to detect single-nucleotide polymorphisms (SNPs) within the CEP290 gene in patients diagnosed with ovarian cancer. Techniques such as polymerase chain reaction (PCR) and DNA sequencing were implemented to ascertain these genetic variations, followed by statistical analysis to evaluate their association with disease susceptibility and prognosis. Results: Two potential SNPs, CXCR2 C+785T and VEGF C+936T, were identified in the CEP290 gene. These polymorphisms may be linked to ovarian cancer pathogenesis, influencing tumor growth, angiogenesis, and immune response mechanisms. Conclusions: It was concluded that this study highlights CXCR2 C+785T and VEGF C+936T as potential SNPs within the CEP290 gene, suggesting their role in ovarian cancer diagnosis and prognosis. Further research with larger cohorts is necessary to validate these findings and discover their clinical utility as predictive biomarkers.

References

Mazhar MW, Saif S, Taj A, Waris S, Manan A, Irfan M et al. Prevalence of Ovarian Cancer and Its Correlation with Age in Pakistan. Merit Research Journal of Medicine and Medical Sciences. 2021 Dec; 9(12): 426-428.

Asante DB, Tierno D, Grassi G, Scaggiante B. Circulating Tumour DNA for Ovarian Cancer Diagnosis and Treatment Monitoring: What Perspectives for Clinical Use? International Journal of Molecular Sciences. 2025 Feb; 26(5): 1889. doi: 10.3390/ijms26051889. DOI: https://doi.org/10.3390/ijms26051889

Tauseef A, Karim A, Ahmad G, Gardner QA. Proteomic Profile Mapping and Differential Expression of Protein in Ovarian Cancer. Sains Malaysiana. 2021 Dec; 50(12): 3667-81. doi: 10.17576/jsm-2021-5012-17. DOI: https://doi.org/10.17576/jsm-2021-5012-17

Vrabič N, Fakin A, Pompe MT. Spectrum and Frequencies of Extraocular Features Reported in CEP290-Associated Ciliopathy–A Systematic Review. Journal Français d'Ophtalmologie. 2024 Oct; 47(8): 104232. doi: 10.1016/j.jfo.2024.104232. DOI: https://doi.org/10.1016/j.jfo.2024.104232

Athwal H, Kochiyanil A, Bhat V, Allan AL, Parsyan A. Centrosomes and Associated Proteins in Pathogenesis and Treatment of Breast Cancer. Frontiers in Oncology. 2024 Mar; 14: 1370565. doi: 10.3389/fonc.2024.1370565. DOI: https://doi.org/10.3389/fonc.2024.1370565

Morretton JP, Simon A, Herbette A, Barbazan J, Pérez‐González C, Cosson C et al. A Catalog of Numerical Centrosome Defects in Epithelial Ovarian Cancers. EMBO Molecular Medicine. 2022 Sep; 14(9): e15670. doi: 10.15252/emmm.202215670. DOI: https://doi.org/10.15252/emmm.202215670

Shirakawa K, Nakazato R, Hara T, Uemura K, Ijaz F, Takahashi S et al. A Type of Pancreatic Cancer Cells Form Cell Clusters from A Solitary Condition in A Primary Ciliogenesis-Dependent Manner. Medical Molecular Morphology. 2025 Mar: 1-4. doi: 10.1007/s00795-025-00428-0. DOI: https://doi.org/10.1007/s00795-025-00428-0

Yirgu M, Kebede M, Feyissa T, Lakew B, Woldeyohannes AB, Fikere M. Single Nucleotide Polymorphism (SNP) Markers for Genetic Diversity and Population Structure Study in Ethiopian Barley (Hordeum Vulgare L.) Germplasm. BioMed Central Genomic Data. 2023 Feb; 24(1): 7. doi: 10.1186/s12863-023-01109-6. DOI: https://doi.org/10.1186/s12863-023-01109-6

Sambasivan S. Epithelial Ovarian Cancer. Cancer Treatment and Research Communications. 2022 Jan; 33: 100629. doi: 10.1016/j.ctarc.2022.100629. DOI: https://doi.org/10.1016/j.ctarc.2022.100629

Tavares V, Neto BV, Vilas-Boas MI, Pereira D, Medeiros R. Impact of Hereditary Thrombophilia on Cancer-Associated Thrombosis, Tumour Susceptibility and Progression: A Review of Existing Evidence. Biochimica et Biophysica Acta (BBA)-Reviews on Cancer. 2022 Sep; 1877(5): 188778. doi: 10.1016/j.bbcan.2022.188778. DOI: https://doi.org/10.1016/j.bbcan.2022.188778

Korbecki J, Kupnicka P, Chlubek M, Gorący J, Gutowska I, Baranowska-Bosiacka I. CXCR2 Receptor: Regulation of Expression, Signal Transduction, and Involvement in Cancer. International Journal of Molecular Sciences. 2022 Feb; 23(4): 2168. doi: 10.3390/ijms23042168. DOI: https://doi.org/10.3390/ijms23042168

Lv Y, Chen C, Han M, Tian C, Song F, Feng S et al. CXCL2: A Key Player in the Tumor Microenvironment and Inflammatory Diseases. Cancer Cell International. 2025 Dec; 25(1): 1-5. doi: 10.1186/s12935-025-03765-3. DOI: https://doi.org/10.1186/s12935-025-03765-3

Park GY, Pathak HB, Godwin AK, Kwon Y. Epithelial-Stromal Communication Via CXCL1-CXCR2 Interaction Stimulates Growth of Ovarian Cancer Cells Through P38 Activation. Cellular Oncology. 2021 Feb; 44: 77-92. doi: 10.1007/s13402-020-00554-0. DOI: https://doi.org/10.1007/s13402-020-00554-0

He S, Hou T, Zhou J, Yu B, Cai J, Luo F et al. Implication of CXCR2-Src Axis in the Angiogenic and Osteogenic Effects of FP-TEB. Nature Partner Journals Regenerative Medicine. 2024 Sep; 9(1): 24. doi: 10.1038/s41536-024-00364-0. DOI: https://doi.org/10.1038/s41536-024-00364-0

Mabeta P and Steenkamp V. The VEGF/VEGFR Axis Revisited: Implications for Cancer Therapy. International Journal of Molecular Sciences. 2022 Dec; 23(24): 15585. doi: 10.3390/ijms232415585. DOI: https://doi.org/10.3390/ijms232415585

Ghalehbandi S, Yuzugulen J, Pranjol MZ, Pourgholami MH. The Role of VEGF in Cancer-Induced Angiogenesis and Research Progress of Drugs Targeting VEGF. European Journal of Pharmacology. 2023 Jun; 949: 175586. doi: 10.1016/j.ejphar.2023.175586. DOI: https://doi.org/10.1016/j.ejphar.2023.175586

Zhao Y, Yu B, Wang Y, Tan S, Xu Q, Wang Z et al. Ang-1 and VEGF: Central Regulators of Angiogenesis. Molecular and Cellular Biochemistry. 2024 Apr: 1-7. doi: 10.1007/s11010-024-05010-3. DOI: https://doi.org/10.1007/s11010-024-05010-3

Wujcicka WI, Zając A, Szyłło K, Romanowicz H, Smolarz B, Stachowiak G. Associations Between Single Nucleotide Polymorphisms from the Genes of Chemokines and the CXCR2 Chemokine Receptor and an Increased Risk of Endometrial Cancer. Cancers. 2023 Nov; 15(22): 5416. doi: 10.3390/cancers15225416. DOI: https://doi.org/10.3390/cancers15225416

Méndez-Valdés G, Gómez-Hevia F, Lillo-Moya J, González-Fernández T, Abelli J, Cereceda-Cornejo A et al. Endostatin and Cancer Therapy: A Novel Potential Alternative to Anti-VEGF Monoclonal Antibodies. Biomedicines. 2023 Feb; 11(3): 718. doi: 10.3390/biomedicines11030718. DOI: https://doi.org/10.3390/biomedicines11030718

Iyer K, Tenchov R, Diaz LL, Jain P, Thite T, Deng Y et al. CRISPR in Therapeutics and Diagnostics: Perspectives from Landscape Analysis. 2025 Jan. doi: 10.26434/chemrxiv-2025-0qk09. DOI: https://doi.org/10.26434/chemrxiv-2025-0qk09