Resumen de Liquid biopsy for early tumor relapse detection
The profiling of circulating-tumor DNA (ctDNA) in blood plasma, often known as liquid biopsy, has recently been of great interest in cancer research. This minimally-invasive strategy relies on the fact that ctDNA represents, at least partially, the real-time state of the tumor genome and holds great potential for early cancer detection and patient care. However, the fraction of ctDNA in total cell-free DNA (cfDNA) is often very low and requires ultra-sensitive and specific methods for its detection.
This thesis focuses on the development and implementation of ultra-sensitive Next Generation Sequencing (NGS) methods that enable the identification of rare variants in plasma in a specific way. In summary, this work presents a comprehensive and cost-effective strategy for monitoring tumor mutations in the plasma of pediatric patients in a personalized manner. Our strategy aims to provide a tool to anticipate the detection and treatment of tumor relapses.
