BRCA-associated ovarian cancer: experience personalized treatment. A clinical case

Abstract

Relevance: Ovarian cancer is one of the deadliest gynecological tumors, claiming the lives of thousands of women every year. Late diagnosis (more than 70% of cases at stage III-IV) is due to the absence of specific symptoms and low screening effectiveness. A personalized treatment approach, including the analysis of BRCA1/2 mutations and the use of PARP inhibitors, has become a significant achievement. Detection of BRCA1/2 mutations has important prognostic value, contributing to early risk prediction and mortality reduction. Genetic counseling for patients with hereditary predispositions allows for prevention through early diagnosis, targeted therapy, and preventive interventions.
The study aimed to analyze a clinical case of treatment of a patient with BRCA-associated ovarian cancer with a rare form of mutation for the possibility of personalizing the treatment.
Methods: This study presents a clinical case of a patient with advanced ovarian cancer associated with a rare BRCA1 mutation. Mutation detection was performed using sequencing, while treatment efficacy was assessed through computed tomography and measurement of CA-125 levels.
Results: The patient has achieved disease control for more than three years. Comprehensive treatment (diagnostic laparoscopy, chemotherapy, surgery, targeted and supportive therapy) stabilized the tumor process. Genetic testing has made it possible to adapt therapy, improving the prognosis. The next of kin were tested for prevention.
Conclusion: A personalized approach with BRCA1/2 mutation analysis and PARP inhibitors improves clinical outcomes. Advances in molecular oncology have increased patient survival. However, problems remain: resistance to therapy, limited efficacy in patients without BRCA mutations, and the need for further research into the mechanisms of interaction of PARP inhibitors with other drugs.