Urologie pro praxi 4/2025
Genetic and molecular factors in the development of bladder cancer – a geneticist’s view
Bladder cancer development is influenced by a combination of genetic and molecular factors that affect cellular processes such as growth, division, and DNA repair. These factors may play a role in tumor initiation and progression. Key genetic and molecular factors associated with this disease include mutations in tumor suppressor genes (e. g. TP53, RB1, CDKN2A), oncogenes (e. g. FGFR3, HRAS, ERBB2, PIK3CA), microsatellite instability (MSI), aberrant protein expression (PD-L1), epigenetic changes (e. g. CDKN2A gene methylation) and chromosomal changes of the loss of heterozygosity type. It turns out that individual genetic changes are characteristic of certain subtypes of tumors, and the study of these changes can lead to a better understanding of the pathogenesis of bladder cancer, to a more accurate molecular classification, which will allow more accurate determination of the prognosis and the further development of personalized therapeutic approaches to this disease, including targeted therapy and immunotherapy. The article summarizes the most common genetic changes that occur in bladder cancer tumor cells and briefly discusses the effect of smoking on the development of these changes as the main risk factor.
Keywords: bladder cancer, smoking, microsatellite instability, genetics of bladder tumors.
