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Abstract

This invention relates to an approach for detection of chain truncating mutations based on the utilization of existing sample collection methods such as FOBT platforms, together with advanced methods for cell-free protein expression. “When further combined with mass spectrometry, the invention provides the ability to simultaneously detect changes in the amino acid sequence of multiple peptides. In some embodiments, DNA is isolated from a patient fecal sample and specific regions of a gene (i.e., for example, a K-ras gene or an APC gene) are PCR amplified using specifically designed primers that allow translation of encoded peptide fragments in a cell-free protein synthesis system. Nascent proteins are affinity purified and their mass is detected by MALDI-TOF which allows identifying low levels of mutations.

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First Claim