Identification of new cancer specific genetic and epigenetic biomarkers for cancer evolution and Minimal Residual Disease (MRD) in peripheral blood samples

• Applicant: Dr. Larissa Haertle
• Subject Area: Hematology, Oncology ; General Genetics and Functional Genome Biology ; Human Genetics
• Term: from 2021 to 2024
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 493951700

Cancer will affect one in every three human beings. However early detection and latest generation therapies have substantially improved the survival of patients diagnosed in recent years. In many cases, nowadays, cancer is considered a chronic disease. And relapses occur, even after efficient treatment, mostly induced by the survival of residual malignant cells. The quantification of these cancer cells remaining after treatment (Minimal Residual Disease, MRD) is a powerful tool to define the level of response and clinical outcome of cancer patients. Next Generation Sequencing (NGS) for MRD monitoring is a new reliable approach. Despite the high sensitivity and clinical impact of this technology, the right biomarkers for some cancer subtypes are still unknown. The characterization of genetic markers such as somatic gene mutations, gene rearrangements, epigenetic alterations and structural variants in an individualised (patient specific) manner, will help patients to know the evolution of their disease and clinicians to better decide when and how to treat them. The project will be focused on hematological and solid tumours. Liquid biopsy monitoring (blood test) will be expanded and new strategies to monitor MRD such as DNA methylation or structural variants tracking will be explored. New protocols for cell-free (cfDNA) purification and sequencing will be established in order to define an experimental pipeline to quantify MRD in peripheral blood using DNA methylation signatures by Deep Bisulfite Sequencing (DBS) and defining structural variant sequences by nanopore long read sequencing.

• DFG Programme: WBP Fellowship
• International Connection: Spain
• Host: Professor Dr. Joaquín Martínez-López, Ph.D.