Validation and clinical evaluation of a comprehensive circulating tumor DNA assay for genomic profiling in solid tumors

The assay demonstrates high analytical validity for small variants at VAF > 0.5% and yields actionable biomarkers in a substantial proportion of cases. However, inconsistent clinical documentation and poor integration into care workflows limit the assessment of its clinical impact. We recommend that the implementation of ctDNA-based CGP in public health settings be accompanied by standardized requisition protocols and mandatory clinical data capture.

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Publication Details

Journal
BMC Cancer
Published
2025-12-08
DOI
https://doi.org/10.1186/s12885-025-15354-8
Primary Topic
Cancer Genomics and Diagnostics
Type
article
Field-Weighted Citation Impact
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article

Validation and clinical evaluation of a comprehensive circulating tumor DNA assay for genomic profiling in solid tumors

Leonhard Müllauer, Ana‐Iris Schiefer, Éva Compérat, Felicitas Oberndorfer et al.
BMC Cancer
Cancer Genomics and Diagnostics
article

Validation and clinical evaluation of a comprehensive circulating tumor DNA assay for genomic profiling in solid tumors

Leonhard Müllauer, Ana‐Iris Schiefer, Éva Compérat, Felicitas Oberndorfer, Lucia Zisser, Lawrence M. Schopfer, André Oszwald
article en

Abstract

The assay demonstrates high analytical validity for small variants at VAF > 0.5% and yields actionable biomarkers in a substantial proportion of cases. However, inconsistent clinical documentation and poor integration into care workflows limit the assessment of its clinical impact. We recommend that the implementation of ctDNA-based CGP in public health settings be accompanied by standardized requisition protocols and mandatory clinical data capture.

BMC CancerVol. 26(1)
Medical University of Vienna (AT)
Openalex Percentile: Top 52%
Cancer Genomics and Diagnostics
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