Discussion

Cancer is a disease of the (epi)genome. Advances in sequencing have allowed rapid discovery of the genetic and epigenetic drivers of cancer. For some solid cancers it is possible to detect these mutations in blood plasma and other peripheral fluids. This circulating and cell free tumour DNA (ctDNA) has the potential to be used as a highly specific cancer biomarker. A potential advantage of ctDNA over most other biomarkers is that beyond disease tracking, the non invasive detection of cancer mutations can also potentially be used for dynamic stratification of patients to different targeted therapies. I will describe the methods we have pioneered in this field.