Liquid biopsy-based analysis by ddPCR and CAPP-Seq in melanoma patients

Background The development of BRAF/MEK inhibitors in patients with metastatic melanoma harboring BRAF mutations has garnered attention for liquid biopsy to detect cell-free DNA (cfDNA) using droplet digital PCR (ddPCR) or next-generation sequencing methods. Objective To investigate gene tumor and cfDNA collected from 43 evaluate their potential as biomarkers. Methods ddPCR CAncer Personalized Profiling by deep Sequencing (CAPP-Seq) techniques were performed plasma obtained melanoma. Results Gene variants, including BRAF, NRAS, TP53, GNAS, MET, detectable the cfDNA, results partially consistent those identified tissues. Among variants examined, copy numbers MET disease status two patients. Conclusion Liquid CAPP-Seq presence mutations, especially when tissue biopsies are unavailable. may be a biomarker