Abstract

Liquid biopsy refers to the analysis of DNA released by tumours into the circulation of patients for the detection, prognostication, selection of therapeutic targets or monitoring of malignancies. For example, regulatory approval has been granted for the detection of epidermal growth factor receptor mutations in plasma of patients with non-small cell lung cancers as a means to stratify therapy. However, the key challenge in the diagnostics of cancer is about its early detection. Given that cancers are highly heterogeneous, our group has been developing whole genome approaches to detect the signatures of cancer via a liquid biopsy. The rationale is to extract as much of the molecular information as possible from a plasma sample to catch a glimpse of the possible presence of cancer. Genomewide approaches to detect tumour-associated copy number aberrations, molecular size profile, DNA methylation signatures and transcriptomic features from circulating nucleic acids have been developed. We have further developed an approach to pinpoint the anatomical location of malignancy, naming to determine a tissue map non-invasively. In summary, many facets of molecular information could be extracted from a liquid biopsy.

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