Clinical application of digital PCR for accurate detection of gene mutation in cancer patients / 中华检验医学杂志

ABSTRACT

The efficient characterization of genetic and epigenetic alterations in oncology requires highly sensitive and specific high throughput procedures.However, the necessary level of sensitivity and specificity were previously unreachable using conventional testing procedures.By partitioning individual target molecules within separated compartments, digital PCR ( dPCR ) could allow to overcome such limitations and detect with unprecedented accuracy very rare sequences.In such procedure, the sample is diluted such that each individual compartment will contain no more than one target sequences.The assay provides an absolute value and quantitative data.The recent coupling of dPCR procedure with microfluidic systems in commercial platforms should make droplet based digital PCR an essential tool for the management of patients with cancer.Applications range from the analysis of tumor heterogeneity to the analysis of body effluents.Droplet based digital PCR is also particularly suited for the increasing field of liquid biopsy analysis.