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Somatic driver mutations during early differentiation of bladder carcinoma cell of origin
Brázdilová, Ludmila ; Drbal, Karel (advisor) ; Láníková, Lucie (referee)
A normal healthy cell traves through different routes to become a tumor cell, which according to the cell-of-origin theory initiates the whole tumor. Deregulation of cell processes by somatic mutations directs the cell into transformation. To this day, many mutations that cause a tumor phenotype, termed driver mutations, have been identified by genomic and targeted analyses. Not only for optimal therapy management but also for the prediction of disease progression the detection of driver mutations accumulating in the cell of origin of a specific tumor is very important. This thesis is focused on driver mutations of bladder carcinoma cell of origin, which is a tumor with a high mutation load. Bladder carcinomas compose a very heterogeneous group of tumors, having phenotype parallels in many other carcinomas, such as breast cancer. The driver mutations could be used as diagnostic and prognostic markers, but are not yet used in clinical practice. This thesis intends to summarize known findings about bladder carcinoma tumor initiation, based on understanding its cell of origin. Further characterisation of important driver mutations in bladder carcinoma and a comparison to other carcinomas is shown here, with respect to their molecular classification.
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