Onkológia 5/2014

RNDr. Gabriel Minárik, PhD.

In the last decade lot of novel genes, which mutations were found to be causally associated with cancer development and progression, were identified. Simultaneously, high level of cancer heterogeneity, which is responsible for most important complications linked with optimisation of cancer terapy, was recorded. These discoveries were directly related to the implementation of state-of-art moleculargenetic methods of analysis of nucleic acids, with multiparallel sequencing be the most prominent, in the oncogenetic research. With their utilisation parallel identification of driver mutations in multiple cancer genes and so comprehensive molecular characterisation of cancer heterogeneity was enabled from qualitative as well as quantitative point of view. The gained knowledge is possible to be used in common in design of novel target therapy agents and individually in personalisation of cancer therapy. Additional important benefit is the possibility to perform diagnostic and prognostic tests in noninvasive settings, as such testing showed in pilot studies concordantly high specificity and even higher sensitivity in direct comparison with invasively performed tests.

Keywords: exome, genome, cancer genes, tumor evolution, multiparallel sequencing, noninvasive genetic testing.