Detection of and Mutations in Liquid Biopsy from Patients with Colorectal Cancer.

[OBJECTIVES] Cancer treatment relies heavily on accurate diagnosis and effective monitoring of the disease. These processes often involve invasive procedures, such as colonoscopy, to detect malignant tissues, followed by molecular analyses to determine relevant biomarkers. This study aimed to evaluate the clinical performance of droplet digital PCR (ddPCR) for detecting (), (), and () mutations in circulating tumor DNA (ctDNA) from colorectal cancer patients using liquid biopsy.

[METHODS] ctDNA was isolated from colorectal cancer (CRC) patients (n = 110) and analyzed for , , and mutations. The ctDNA obtained through liquid biopsy was analyzed using ddPCR, and the findings were compared with sequencing data from tumor DNA archived in formalin-fixed paraffin-embedded (FFPE) blocks.

[RESULTS] For mutations, ddPCR achieved a sensitivity of 72.0% and a specificity of 71.4%. However, when pooling all target mutations ( and ), the overall sensitivity and specificity were lower, at 48.3% and 51.1%, respectively.

[CONCLUSION] The results of this study indicate that the ddPCR analysis of ctDNA may provide complementary information for the molecular diagnosis of CRC patients.