Genetic Tumor Risk Syndromes: Current Aspects of Diagnosis and Genetic Counseling

Genetic tumor risk syndromes (GTRS) account for a significant proportion of oncological diseases, characterized by an increased risk of developing cancer, often at a young age. Modern methods of genomic diagnostics, particularly next-generation sequencing (NGS), have contributed to a revolutionary advance in understanding the underlying molecular mechanisms of these syndromes. Identifying pathogenic variants in genes associated with GTRS is essential for early diagnosis, risk assessment, personalized treatment selection, and the implementation of effective preventive measures. This article provides an overview of the current aspects of GTRS, focusing on some syndromes, their clinical presentation, genetic etiology and molecular mechanisms. It discusses modern diagnostic methods, the role of genetic counseling, and the ethical and psychosocial aspects related to genetic testing. The main guidelines for prevention and follow-up in individuals with GTRS are also outlined, according to the recommendations of leading international organizations. In conclusion, the importance of a multidisciplinary approach in the management of these syndromes and the application of new technologies for risk assessment and personalization of therapeutic approaches are emphasized.