Mutation Detection – Highly sensitive detection of gene modifications/mutations

articularly in oncology determination of gene mutation statuses serve as a biomarker to guide therapeutic decisions.

Scientists of the University of Duisburg-Essen developed an RT-PCR based test, with a sensitivity of up to 0.005% against a background of wild type alleles, detecting deletions and insertions as well as point mutations. The assay is robust and applicable in a broad range of laboratories. So far current methods for screening the epidermal growth factor-receptor (EGFR)-gene in patients with non-small lung cancer (NSCLC) require taking tumor biopsies. By applying this sensitive technology, it is possible to detect even one single mutated circulating tumor (CTC) cell per milliliter peripheral blood. As sequential biopsies or biopsies of multiple tumor lesions are not routinely performed due to patient safety, this opens new non-invasive possibilities for monitoring the mutation status of patients during treatment and to detect disease relapse early.

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