Ovarian cancer represents a significant global health issue, posing a significant challenge for the field of medicine. One strategy to improve the prognosis for women around the world is to implement modern technologies and apply the concept of personalized medicine. This study employed an in-depth case study of patients diagnosed with high-grade serous ovarian cancer. Advanced genetic testing methods and a comprehensive review of the patient’s medical history were utilized to identify new potential markers for early detection of the disease and eligibility for treatment. In this study, next-generation sequencing (NGS) technology was utilized for analysis. Tissue panel tests were performed to detect somatic mutations, while whole exome sequencing (WES) was conducted on blood samples to detect germline mutations. The results obtained were then analyzed in the context of the patient’s medical history to identify patients with a familial predisposition to cancer and to look for an association with comorbidities. The utilization of genetic testing and the analysis of patients’ medical histories facilitated the identification of somatic and germline variants in genes associated with carcinogenesis. This approach led to the identification of ovarian cancer-specific and novel variants. Furthermore, germline variants associated with comorbidities were identified. The utilization of contemporary molecular biology methodologies can markedly enhance the diagnostic accuracy of patients and allow the development of new diagnostic tests.

ovarian cancer; HGSOC; NGS; WES; personalized medicine

1. Sung H, Ferlay J, Siegel RL, et al. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries. CA: A Cancer Journal for Clinicians. 2021; 71(3): 209-249. doi: 10.3322/caac.21660
2. Gaona-Luviano P, Medina-Gaona LA, Magaña-Pérez K. Epidemiology of ovarian cancer. Chinese Clinical Oncology. 2020; 9(4): 47-47. doi: 10.21037/cco-20-34
3. Huang J, Chan WC, Ngai CH, et al. Worldwide Burden, Risk Factors, and Temporal Trends of Ovarian Cancer: A Global Study. Cancers. 2022; 14(9): 2230. doi: 10.3390/cancers14092230
4. Ali AT, Al-ani O, Al-ani F. Epidemiology and risk factors for ovarian cancer. Menopausal Review. 2023; 22(2): 93-104. doi: 10.5114/pm.2023.128661
5. Sambasivan S. Epithelial ovarian cancer: Review article. Cancer Treatment and Research Communications. 2022; 33: 100629. doi: 10.1016/j.ctarc.2022.100629
6. Punzón-Jiménez P, Lago V, Domingo S, et al. Molecular Management of High-Grade Serous Ovarian Carcinoma. International Journal of Molecular Sciences. 2022; 23(22): 13777. doi: 10.3390/ijms232213777
7. Chandrasekaran A, Elias KM. Synthetic Lethality in Ovarian Cancer. Molecular Cancer Therapeutics. 2021; 20(11): 2117-2128. doi: 10.1158/1535-7163.mct-21-0500
8. Matthews B, Bowden N, Wong-Brown M. Epigenetic Mechanisms and Therapeutic Targets in Chemoresistant High-Grade Serous Ovarian Cancer. Cancers. 2021; 13(23): 5993. doi: 10.3390/cancers13235993
9. Bukłaho PA, Kiśluk J, Nikliński J. Diagnostics and treatment of ovarian cancer in the era of precision medicine - opportunities and challenges. Frontiers in Oncology. 2023; 13. doi: 10.3389/fonc.2023.1227657
10. Bound NT, Vandenberg CJ, Kartikasari AER, et al. Improving PARP inhibitor efficacy in high-grade serous ovarian carcinoma: A focus on the immune system. Frontiers in Genetics. 2022; 13. doi: 10.3389/fgene.2022.886170
11. Hussen BM, Abdullah ST, Salihi A, et al. The emerging roles of NGS in clinical oncology and personalized medicine. Pathology-Research and Practice. 2022; 230: 153760. doi: 10.1016/j.prp.2022.153760
12. Gorcenco S, Ilinca A, Almasoudi W, et al. New generation genetic testing entering the clinic. Parkinsonism & Related Disorders. 2020; 73: 72-84. doi: 10.1016/j.parkreldis.2020.02.015
13. Hanssen F, Garcia MU, Folkersen L, et al. Scalable and efficient DNA sequencing analysis on different compute infrastructures aiding variant discovery. NAR Genomics and Bioinformatics. 2024; 6(2). doi: 10.1093/nargab/lqae031
14. Garcia M, Juhos S, Larsson M, et al. Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants. F1000Research. 2020; 9: 63. doi: 10.12688/f1000research.16665.2
15. Ewels PA, Peltzer A, Fillinger S, et al. The nf-core framework for community-curated bioinformatics pipelines. Nature Biotechnology. 2020; 38(3): 276-278. doi: 10.1038/s41587-020-0439-x
16. Di Tommaso P, Chatzou M, Floden EW, et al. Nextflow enables reproducible computational workflows. Nature Biotechnology. 2017; 35(4): 316-319. doi: 10.1038/nbt.3820
17. Vasimuddin Md, Misra S, Li H, et al. Efficient Architecture-Aware Acceleration of BWA-MEM for Multicore Systems. Proceedings of the 2019 IEEE International Parallel and Distributed Processing Symposium (IPDPS); 2019. doi: 10.1109/ipdps.2019.00041
18. Cingolani P, Platts A, Wang LL, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff. Fly. 2012; 6(2): 80-92. doi: 10.4161/fly.19695
19. Bukłaho PA, Kiśluk J, Bauer W, et al. Results from studies using next-generation sequencing to detect somatic and germline variants in patients with high-grade serous ovarian cancer. Available online: https://doi.org/10.5281/zenodo.14710360 (accessed on 7 April 2025).
20. Gronwald J, Cybulski C, Huzarski T, et al. Genetic testing for hereditary breast cancer in Poland: 1998–2022. Hereditary Cancer in Clinical Practice. 2023; 21(1). doi: 10.1186/s13053-023-00252-6
21. Kowalik A, Siołek M, Kopczyński J, et al. BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study. PLOS ONE. 2018; 13(7): e0201086. doi: 10.1371/journal.pone.0201086
22. Kluska A, Balabas A, Paziewska A, et al. New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing. BMC Medical Genomics. 2015; 8(1). doi: 10.1186/s12920-015-0092-2
23. Rogoża-Janiszewska E, Malińska K, Cybulski C, et al. Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland. Cancers. 2020; 12(8): 2321. doi: 10.3390/cancers12082321
24. Shet D, Gatty RC. Impressive response to oral metronomic chemotherapy in ovarian cancer. Current Problems in Cancer: Case Reports. 2022; 8: 100197. doi: 10.1016/j.cpccr.2022.100197