Liquid biopsy is used in a variety of applications in cancer treatment and is used for the ongoing monitoring of therapy response or for the detection of resistance in the event of therapy failure. It is considered a promising approach for the early detection of cancer and could enable cancer to be diagnosed by testing a blood sample for the presence of circulating tumour DNA (ctDNA).
A liquid biopsy is the diagnostic detection of tumour cells or tumour DNA in blood and other body fluids. Liquid biopsy is currently mainly used in clinical studies and is used both for the early detection of recurrences after curative treatment and for monitoring the success of treatment during anti-tumour therapy. The ctDNA is considered to have particular potential as it reflects the entire tumour process and, unlike circulating tumour cells, can be easily analysed. Particularly in the case of highly complex, advanced tumours, which are subject to rapid clonal evolution, great progress has already been made in the detection of newly formed tumour clones and the corresponding adaptation of the therapeutic strategy. For a broad application of liquid biopsy outside of clinical studies and research projects, the sensitivity and accuracy as well as the predictive and prognostic value of ctDNA must be evaluated in large prospective studies and standards for the pre-analytical processing of samples and examination methods of ctDNA must be established.
Furthermore, there are still a number of unanswered questions concerning the biology of DNA.
The aim of this CD Laboratory is to close these gaps and further investigate the biology of ctDNA. The greatest challenge in the analysis of DNA circulating in plasma is the error-free differentiation between tumour DNA (ctDNA) and circulating DNA originating from healthy cells (cell-free DNA, cfDNA). In previous studies on the clinical suitability of ctDNA as a tumour marker, the results on the cellular origin of the detected DNA, its kinetics, mechanisms of release into the bloodstream and degradation and excretion from the body were insufficient and sometimes contradictory. It is therefore important to gain a precise understanding of the biology of ctDNA and cfDNA in order to discover further important parameters that increase sensitivity and specificity, particularly in the early stages of the tumour, so that the knowledge gained can be used for early cancer detection using a liquid biopsy. Furthermore, existing analytical methods and bioinformatic approaches are to be further developed.
The combined use of clinical and genetic data sets using highly developed bioinformatic methods, such as machine learning algorithms, could in future contribute to the early detection of cancer from blood or other body fluids and be used as a non-invasive screening tool.
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