Evidence map›Paper›PMID 32560092›Full record

ArticleCancers2020

Technical Evaluation of Commercial Mutation Analysis Platforms and Reference Materials for Liquid Biopsy Profiling.

Sabrina Weber, Benjamin Spiegl, Samantha O Perakis, Christine M Ulz, Peter M Abuja, Karl Kashofer, Paul van der Leest, Maria Aguirre Azpurua, Menno Tamminga, Dan Brudzewsky and 12 more

Abstract read
In one paragraph

Article in Cancers, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

41 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. plasmaCHORD: A Machine Learning Approach to Distinguish Clonal Hematopoiesis-Derived Variants in Liquid Biopsies from Patients with Solid Tumors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026
    Article
  4. Review
  5. Advances in laboratory medicine · 2025
    Article
  6. Article
  7. Observational
  8. Article
  9. Article
  10. Article
  11. Article
  12. Detection accuracy and clinical applications of DP-TOF mass spectrometry.The Journal of international medical research · 2024
    Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors.

Sabrina WeberInstitute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.
Benjamin SpieglInstitute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.
Samantha O PerakisInstitute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.ORCID 0000-0002-9401-5224
Christine M UlzInstitute of Pathology, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.
Peter M AbujaChristian Doppler Laboratory for Liquid Biopsies for Early Detection of Cancer, Medical University of Graz, 8010 Graz, Austria.ORCID 0000-0003-1957-4066
Karl KashoferInstitute of Pathology, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.
Paul van der LeestInstitute of Pathology, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.ORCID 0000-0001-8527-4956
Maria Aguirre AzpuruaUniversity of Groningen, University Medical Center of Groningen, 9713 GZ Groningen, The Netherlands.
Menno TammingaUniversity of Groningen, University Medical Center of Groningen, 9713 GZ Groningen, The Netherlands.ORCID 0000-0001-6508-2623
Dan BrudzewskySeraCare Life Sciences, Milford, USA.ORCID 0000-0003-1254-8447
Dominic G RothwellCancer Research UK MI, University of Manchester, Manchester M13 9PL, UK.
Sumitra MohanCancer Research UK MI, University of Manchester, Manchester M13 9PL, UK.
Alexander SartoriAgena Bioscience GmbH, D-22761 Hamburg, Germany.
Rita LampignanoBayer AG, Biomarker Research, 42117 Wuppertal, Germany.
Yves KonigshoferSeraCare Life Sciences, Milford, USA.
Markus Sprenger-HausselsQIAGEN GmbH, 40724 Hilden, Germany.
Harriet WikmanUniversity Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.ORCID 0000-0001-6862-0888
Inger R BergheimDepartment of Cancer Genetics, Institute of Cancer Research, Oslo University Hospital, N-0310 Oslo, Norway.
Vera KlotenBayer AG, Biomarker Research, 42117 Wuppertal, Germany.
Ed SchuuringUniversity of Groningen, University Medical Center of Groningen, 9713 GZ Groningen, The Netherlands.ORCID 0000-0003-3655-143X
Michael R SpeicherInstitute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.
Ellen HeitzerInstitute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.ORCID 0000-0002-8815-7859

Funding

Austrian Federal Ministry for Digital and Economic Affairs Christian Doppler Research Fund for Liquid Biopsies for Early Detection of CancerH2020 European Institute of Innovation and Technology Cancer-ID IMI JU; #115749-1
6 · The paper itself

Abstract

Molecular profiling from liquid biopsy, in particular cell-free DNA (cfDNA), represents an attractive alternative to tissue biopsies for the detection of actionable targets and tumor monitoring. In addition to PCR-based assays, Next Generation Sequencing (NGS)-based cfDNA assays are now commercially available and are being increasingly adopted in clinical practice. However, the validity of these products as well as the clinical utility of cfDNA in the management of patients with cancer has yet to be proven. Within framework of the Innovative Medicines Initiative (IMI) program CANCER-ID we evaluated the use of commercially available reference materials designed for ctDNA testing and cfDNA derived from Diagnostic Leukaphereses (DLA) for inter- and intra-assay as well as intra- and inter-laboratory comparisons. In three experimental setups, a broad range of assays including ddPCR, MassARRAY and various NGS-based assays were tested. We demonstrate that both reference materials with predetermined VAFs and DLA samples are extremely useful for the performance assessment of mutation analysis platforms. Moreover, our data indicate a substantial variability of NGS assays with respect to sensitivity and specificity highlighting the importance of extensive validation of the test performance before offering these tests in clinical routine practice.

Indexed as

assay validationcell-free DNAcfDNAcirculating tumor DNActDNAdiagnostic leukapheresesmolecular profilingmutation analysisperformance assessmentreference material

Identifiers

PMID32560092
PMCPMC7352370

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.