TERT PROMOTER DROPLET DIGITAL PCR ASSAY FOR THE DIAGNOSIS OF MALIGNANT CANCERS

摘要

Aspects of the present disclosure relate to methods for detecting mutant TERT promoter sequences (e.g., C228T, C250T) that provide several improvements over conventional detection methods, thereby enabling detection of such mutations in biological fluid samples (e.g.,plasma), which contain miniscule amounts of nucleic acids. Such improvements include, but are not limited to, improvements in detection sensitivity and specificity, which allows detection of mutations in a biological sample having a low level of nucleic acids such as a plasma sample from a patient having brain cancer (e.g., glioma).