Onkológia 2/2025
Genetic diagnosis in breast and ovarian malignancies
Breast and ovarian malignancies are among the most diagnosed oncological diseases in women. This article focuses on the significance of genetic diagnostics in identifying predispositions to these malignancies with an emphasis on new approaches and technologies such as next-generation sequencing (NGS). In addition to diagnostics, the article analyses advances in targeted therapy, specifically PARP inhibitors (PARPi) which have shown significant efficacy in patients with BRCA-mutated tumours. It discusses the mechanism of action of PARPi, the clinical application, and possibilities of combined therapies. The advantages and limitations of genetic testing and personalised medicine are also reviewed. The aim of the article is to highlight the importance of genetic diagnostics and personalised treatment of the management of patients with ovarian and breast malignancies while providing an up-to-date overview of current diagnostic possibilities in Slovakia.
Keywords: massive parallel sequencing, breast cancer, ovarian cancer, homologous recombination deficiency, BRCA1, BRCA2, PARP inhibitors