Аңдатпа
Relevance: Colorectal cancer (CRC) is a multifactorial disease, with approximately 25-30% of cases occurring in individuals with a hereditary predisposition. Advances in genomics and transcriptomics over the past decade have enhanced the diagnosis and prevention of CRC, particularly in those with a family history. Early diagnostic approaches for this group are based on the principles of genetic heterogeneity and risk stratification for various disease variants. Oncology practice in the Republic of Kazakhstan requires standardized genetic screening algorithms for the individualized examination, monitoring, and prevention of CRC in individuals with a hereditary predisposition. This population exhibits a higher risk of CRC and other malignancies compared to the general population. However, the regulation of genetic screening and the implementation of individualized examinations for these individuals remain unresolved issues.Aim: The study aimed to develop and implement algorithms for genetic screening and individualized monitoring of individuals with a hereditary predisposition to CRC, utilizing next-generation sequencing (NGS) methods.Materials and Methods: The study used clinical and genealogical methods (analysis of family history and pedigrees), instrumental methods (colonoscopy), laboratory methods (pathomorphological analysis), and molecular genetics and bioinformatics methods-including DNA analysis using next-generation sequencing (NGS).Results: Based on NGS testing, indications for individualized screening of patients’ relatives were identified. Colonoscopy revealed various forms of colonic pathology in 20% of the examined individuals. All carriers of pathogenic mutations were enrolled in an individualized follow-up surveillance program. The developed algorithms for genetic screening and monitoring of individuals with a hereditary predisposition to CRC have been implemented in the clinical practice of regional oncology centers in the Republic of Kazakhstan.Conclusion: The application of genetic screening algorithms, along with individualized examination and monitoring of individuals with a hereditary predisposition, enables the evidence-based identification of high-risk cancer groups and facilitates the early diagnosis and prevention of CRC.