NGS and dPCR Analysis of Circulating Tumour DNA and Their Potential Uses in Cancer Patient Care

Tim Forshew
UCL, United Kingdom

Cancer is a disease of the (epi)genome. Advances in sequencing technologies have allowed rapid discovery of the genetic and epigenetic drivers of cancer. There is now growing evidence that for many solid tumours it is possible to detect these same (epi)genetic changes through the analysis of a patient’s blood. This circulating and cell free tumour DNA (ctDNA) has the potential to be used as a highly specific cancer biomarker. There are a broad range of applications that are currently being intensively explored for ctDNA including non-invasive cancer detection, molecular stratification and disease monitoring.
The main challenges with the analysis of ctDNA are its dilute and fragmented nature and the often low tumour DNA fractions. Technological advances in the fields of digital PCR and next generation sequencing have recently made the detailed analysis of this DNA possible.
Using a combination of these methods we have interrogated ctDNA levels in a range of cancer types including sarcoma, ovarian cancer and breast cancer. I will outline recent results and highlight strengths and weaknesses of different analysis methods.

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