Onkológia 1/2025
Molecular Biomarkers in Colorectal Cancer: Key Elements for Precision Diagnosis and Treatment Approaches
Molecular genetic diagnostics of CRC are integral components of personalized oncology, enabling risk stratification, optimal therapy selection, and disease monitoring. The detection of biomarkers using advanced technologies, such as Next-Generation Sequencing (NGS), provides a detailed insight into genetic alterations, including the identification of point mutations, gene fusions, and chromosomal rearrangements. Key biomarkers include mutations in the RAS and BRAF genes, HER2 amplifications, and NTRK and RET fusions, which are critical for predicting responses to targeted therapies. Additionally, molecular signatures such as microsatellite instability (MSI), tumor mutational burden (TMB), and mutations in the POLE/POLD1 genes play an important role in guiding immunotherapy indications. Multigene sequencing with NGS improves diagnosis and creates new options for personalized treatment of CRC patients.
Keywords: colorectal cancer (CRC), molecular biomarkers, molecular genetic diagnostics, Next Generation Sequencing (NGS), personalized treatment
