An Exquisitely Sensitive Method for Mutation Detection in Solid and Liquid Biopsies.

This exquisitely sensitive method allows detection of low copy-number mutant alleles (down to 1 copy) in a mix of wild type alleles.

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Background.

Mutation detection is of specific interest in cancer screening, cancer surveillance, predictive testing, treatment- monitoring and tumour genotyping. Techniques for detecting mutations which are in low copy number (in a background of wild-type DNA) are expensive and/or limited in their application. This is a simple technology which can identify low copy-number mutant alleles in a range of sample types including poor quality templates (such as formalin-fixed paraffin embedded (FFPE) tissue) and in bodily fluids (such as blood, urine etc.). The high degree of specificity allows for multiplexing with high sensitivity. This opens the possibility of analysing a single sample for a range of low abundance mutations in one test. The speed and simplicity of the technique could allow liquid biopsy testing within the me frame of an outpatient appointment.

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