Mutation Detection in ctDNA or CTC - Highly sensitive, fast and cost-effective detection of gene modifications and mutations in ctDNA or CTC


Ref.-Nr. 2664 / 2702

Particularly in oncology, determination of gene mutation statuses serves as a biomarker to guide rational therapeutic decisions. Due to patient safety sequential biopsies or biopsies of multiple tumor lesions are not routinely performed.

Scientists of the University of Duisburg-Essen developed a platform, which facilitates the detection of deletions and insertions as well as point mutations in target genes from a variety of sources against a huge background of wild type alleles, making a clear “Yes” or “No” output possible and thereby simplifying therapeutic decisions.

Neither expensive and complicated equipment nor specialized personnel is needed. The assay is robust and applicable in all laboratories equipped with an RT-PCR machine. It can easily be established for point of care (PoC) purposes.

This sensitive technology now enables clinicians to be independent of the scarce resource “tissue biopsy”. By using blood (ctDNA, cfDNA or CTC) it opens new non-invasive possibilities for monitoring the mutation status of patients before and during treatment as well as to detect disease relapse early.

Keywords: ctDNA, cf DNA, Mutations, deletions, insertions, companion diagnostic, EGF, BRAF, KRAS, platform, oncology, NSCLC, circulating tumor cells, CTC, highly sensitive, RT-PCR, next generation sequencing, non-invasive, blood, stratification, personalized medicine, treatment monitoring, liquid biopsy, EBUS-TBNA

Commercial Opportunities

This invention allows an easy and economical way for the stratification of patients (e.g. for treatment with tyrosine-kinase-inhibitors) with unique sensitivity. Based on RT-PCR, the technical requirements are conventional and worldwide accessible. The non-invasive analysis of free DNA from plasma/serum samples is possible and facilitates continuous monitoring of treatment response.

Current Status  

Platform technology established for common oncogenic mutations with similar impressive sensitivities - BRAF (V600E), EGFR (DelEx19, L858R, T790), KRAS (codon 12/13/61).

On behalf of University of Duisburg-Essen, PROvendis offers access for commercial use in terms of a license as well as research collaborations. In case of interest, we are pleased to inform you about the current patent status.

A European and a US patent have already been granted, other applications are pending.

Further Reading

Breitenbuecher et al. (2014) Development of a highly sensitive and specific method for detection of circulating tumor cells harboring somatic mutations in non-small-cell lung cancer patients. PLoS One 9(1):e85350

Oezkan et al. (in preparation 2016): Rapid, cost-effective and highly sensitive mutation detection in EBUS-TBNA specimen of lymph node metastases in patients with lung adenocarcinoma.

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