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Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
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Single-copy detection of somatic variants from solid and liquid biopsy
Ana-Luisa Silva1, Paulina Klaudyna Powalowska1, Magdalena Stolarek1
1Biofidelity Ltd, 330 Cambridge Science Park, Cambridge, CB4 0WN, UK.
Scientific Reports
|March 17, 2021
Summary
A new method, Allele-Specific PYrophosphorolysis Reaction (ASPYRE), offers highly sensitive detection of multiple cancer-causing somatic variants. This accessible technique works with various DNA samples and standard equipment, improving clinical decision-making.
Area of Science:
- Molecular Biology
- Oncology
- Genetics
Background:
- Accurate detection of somatic variants is crucial for cancer clinical decision-making.
- Current methods like allele-specific real-time PCR are limited in sensitivity and target number.
- Next-generation sequencing methods are costly, slow, and complex for routine use.
Purpose of the Study:
- To develop a highly sensitive and accessible method for detecting multiple somatic variants.
- To introduce the Allele-Specific PYrophosphorolysis Reaction (ASPYRE) method.
- To demonstrate the utility of ASPYRE for clinical oncology applications.
Main Methods:
- Developed Allele-Specific PYrophosphorolysis Reaction (ASPYRE) for somatic variant detection.
- ASPYRE utilizes a simple workflow compatible with standard molecular biology reagents and real-time PCR instruments.
- Tested ASPYRE with DNA from plasma and formalin-fixed paraffin-embedded (FFPE) samples.
Main Results:
- ASPYRE demonstrated single-molecule sensitivity for somatic variant detection.
- The method showed tolerance to DNA extracted from challenging clinical samples (plasma and FFPE).
- Developed and demonstrated two multiplex panels, including one for 47 EGFR variants.
Conclusions:
- ASPYRE provides a simple, highly sensitive, and multiplexed approach for somatic variant detection.
- This method is effective and accessible for clinical oncology.
- ASPYRE facilitates improved and rapid clinical decision-making in cancer treatment.
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