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Liquid biopsies allow DNA shed from tumours to be detected using blood tests without invasive and expensive surgery associated with traditional tissue biopsies. Although cell free tumour DNA has emerged as a potential cancer biomarker to provide information about tumour genetics, dynamics, progression, and resistance to drug, a number of technical issues hinder clinical implementation. Together with bioinformatics, blood sample preparation is an area where improvement could enable rapid clinical implementation and is the subject of this project funded by Medical Research Scotland.
Building on existing microfluidic circulating nucleic acid extraction work in our group and in collaboration with our industrial partner Multiplicom (now Agilent Technologies), this project specifically aims to describe a novel pre-analytical procedure for ctDNA enrichment in cancer patient samples. The first part of the work covered by this talk will focus on the evaluation of biological protocols for the enrichment for mutant alleles: a toehold hybridisation approach and the NaME-PRO approach (nuclease-assisted minor-allele enrichment with probe-overlap). The total integrated microfluidic workflow will have the potential to be used together with current diagnostic assays and more importantly to be introduced as standardised sample preparation procedure.