Clinical validation of qPCR Target Selector™ assays using highly specific switch-blockers for rare mutation...

Area of Science:

• Oncology
• Molecular Biology
• Genetics

Background:

• Personalized cancer treatment relies on identifying actionable DNA mutations.
• Traditional tissue biopsies carry risks, may not reflect tumor heterogeneity, and are poorly tolerated for sequential monitoring.
• Liquid biopsies using peripheral blood offer a non-invasive alternative for cancer molecular characterization.

Purpose of the Study:

• To develop and validate non-invasive liquid biopsy technologies for cancer molecular profiling.
• To demonstrate the concordance between liquid biopsy results and traditional tissue biopsies.
• To enable personalized cancer treatment strategies through accessible molecular analysis.

Main Methods:

• The Target Selector circulating tumor DNA (ctDNA) platform was employed.
• A real-time PCR-based approach combined with DNA sequencing was used.
• A patented blocking technology was utilized to suppress wild-type DNA amplification, enabling specific amplification of mutant alleles.

Main Results:

• High accuracy, sensitivity, and specificity were demonstrated for the Target Selector assays compared to tissue biopsies.
• Concordance rates between 93% and 96% were observed across 127 clinical assays when compared to blinded tissue samples.
• The study focused on frequently mutated genes in cancer, including EGFR, BRAF, and KRAS.

Conclusions:

• The developed switch-blocker technology provides a highly effective non-invasive method for determining cancer molecular signatures.
• Liquid biopsies represent a promising advancement for cancer diagnostics and treatment planning.
• This technology overcomes limitations associated with traditional biopsy procedures.