Integration of clinical data with results from next-generation sequencing technology used to detect somatic and germline variants in patients with high-grade serous ovarian cancer

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.