About the project
The research and development design focuses on the prevalence of Lynch syndrome in the Slovak population and the possibility of prevention of tumors associated with this syndrome. This represents research and development activities directly focusing on a disease known for its excessive morbidity and mortality rate (cancer) – whereas research/development in this particular type of disease represents one of the priorities in this domain of smart specialization.
Overall project objective
Thanks to the application of research results, the submitted project aims to examine in detail the issue of hereditary cancer caused by Lynch syndrome and to examine the presumed genetic background of the higher prevalence of selected types of tumors in the Slovak population.
The acquired knowledge and their subsequent implementation in the form of a specifically designed screening program as well as a central database of specific patients with Lynch syndrome will be the basis for more effective prevention and management of cancer associated with Lynch syndrome. Moreover, they will also help design a suitable screening program for our population. An important goal of the project is also the development of prototypes of novel, less invasive methods for screening for the presence of cancer based on liquid biopsy.
Clarifying the importance of the genetic component in the prevalence of CRC in Slovakia, the introduction of modern non-invasive screening tests and defining appropriate screening in our population will reduce the incidence and mortality of CRC and other Lynch associated cancers, increase the quality of life and reduce sickness absence as well as treatment costs nationwide.
Determining the population frequencies of pathogenic variants in the genes of the mismatch repair system will allow us to better understand the contribution of genetic factors in the occurrence of colorectal cancer in the Slovak population.
We expect that the Slovak population will have a higher incidence of pathogenic variants for this disease and confirmation of this hypothesis would point to the need to introduce a specific screening program in Slovakia. The introduction of non-invasive screening tests involving innovative molecular methods would improve the adherence of individuals at higher risk of colorectal cancer to the established screening regimen. This should lead to higher efficiency in preventing the development of colorectal cancer, or other cancers associated with Lynch syndrome, which will result in an improvement in the health of the general population.