Liquid Biopsy: minimal-invasive analysis of somatic alterations

Liquid biopsy describes the non- or minimal-invasive collection of body fluids for the analysis of circulating markers including circulating tumor cells (CTCs), circulating free DNA (cfDNA) and extracellular vesicles (EVs). Liquid biopsy is very promising for companion diagnostics (CDx) and disease monitoring in cancer. However, the concept is not limited to cancer but rather is used in a broad range of clinical applications, such as non-invasive prenatal testing (NIPT), the diagnosis of monogenic mosaic diseases or patient surveillance following organ transplantation. This special issue provides an overview of the current status of a variety of circulating markers and clinical applications in the field of liquid biopsy. This emerging field is of high relevance for human genetics as in many cases DNA, the backbone of genetic diagnosis, is the underlying material analyzed.

Ariane Hallermayr