Epigenetic and genetic profiling of cell-free DNA for precision oncology in colorectal and breast cancer

Abstract

Colorectal and breast cancer are among the most frequent types of cancer. The identification of novel non-invasive genetic and epigenetic biomarkers is crucial to improve the management of this disease. This thesis evaluated the performance of a novel NGS targeted panel for the noninvasive detection of clinically relevant gene variants in cell- free DNA (cfDNA). Furthermore, this work characterized the cfDNA methylation profile of colorectal and breast cancer patients, providing non-invasive epigenetic biomarkers and signatures useful for the early detection of the disease and therapy selection. Therefore, the results obtained in this study will contribute to improve the management of colorectal and breast cancer, facilitating the advance towards precision oncology.