Abstract:

Aims: The aim of this study was to investigate the clinical significance of mutations in AGO2, DICER and DROSHA genes, which are involved in miRNA biogenesis, as well as TP53, KRAS, BRAF, PI3KCA and APC genes, which are important in the pathophysiology of CRC, and their association with metastasis in patients diagnosed with sporadic colorectal cancer Methods: DNA isolation was performed by taking 10-micron sections from paraffin-embedded tissue samples of 12 patients diagnosed with CRC and Kapa NGS DNA extraction kit was used for sequence analysis. The purity and concentration of the DNA obtained was measured by Qubit fluoremeter, and NadPrep DNA Universal Library Preparation Kit was used for high quality library preparation. Bioinformatics analyses were performed on the Genomize Seq platform. Results: In our study, metastasis was detected in 42% of 12 colorectal cancer patients. Mutations in at least two miRNA biogenesis genes were detected in 80% of metastatic patients. In addition, variants detected in miRNA biogenesis regulatory genes and oncogenic genes were summarized according to pathogenicity status according to the American College of Medical Genetics and Genomics (ACMG) classification. Conclusion: Genes involved in miRNA biogenesis and mutations of clinically relevant genes in CRC have important implications on disease prognosis and response to therapy. Mutations in these genes may be associated with the development of metastases and mechanisms of resistance to treatment and may be potential genetic markers for the development of personalized treatment strategies.

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