
Somatic mutations are key drivers in tumorigenesis and serve as critical diagnostic, prognostic and predictive biomarkers. hTERT promoter mutations, common in head and neck squamous cell carcinoma (HNSCC), promote telomerase reactivation and cellular immortalization. In colorectal cancer, activating KRAS mutations – particularly in codons 12 and 13 – constitutively activate the RAS/MAPK pathway and confer resistance to anti-EGFR therapies.
In this study, we evaluated rapid digital PCR (dPCR) assays for the detection of hTERT promoter and KRAS mutations in tumor tissue samples and compared their performance with next-generation sequencing (NGS). The dPCR assays demonstrated 100% concordance with NGS results while offering a faster workflow and minimal hands-on time. These findings highlight dPCR as a potentially robust approach for sensitive mutation detection and primary mutation screening.