Evidence map›Paper›PMID 38835734›Full record

ArticleMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V2023

The utility of liquid biopsy in clinical genetic diagnosis of cancer and monogenic mosaic disorders.

Ariane Hallermayr, Thomas Keßler, Verena Steinke-Lange, Ellen Heitzer, Elke Holinski-Feder, Michael Speicher

Abstract read
In one paragraph

Article in Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–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

6 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
  4. Characterization of Plasma Cell-Free DNA Variants as of Tumor or Clonal Hematopoiesis Origin in 16,812 Advanced Cancer Patients.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025
    Article
  5. Article
  6. Liquid Biopsy: minimal-invasive analysis of somatic alterations.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023
    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

6 authors.

Ariane HallermayrMGZ - Medizinisch Genetisches Zentrum Munich Germany.ORCID https://orcid.org/0000-0002-6503-1874
Thomas KeßlerMGZ - Medizinisch Genetisches Zentrum München Germany.ORCID https://orcid.org/0000-0002-1693-4444
Verena Steinke-LangeMGZ - Medizinisch Genetisches Zentrum Bayerstraße 3-5 80335 München Germany.ORCID https://orcid.org/0000-0001-8491-3234
Ellen HeitzerMedical University of Graz Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine (Austria) Graz Austria.ORCID https://orcid.org/0000-0002-8815-7859
Elke Holinski-FederMGZ - Medizinisch Genetisches Zentrum München Germany.ORCID https://orcid.org/0000-0002-5172-2818
Michael SpeicherMedical University of Graz Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine (Austria), Neue Stiftingtalstraße 2 Graz Austria.ORCID https://orcid.org/0000-0003-0105-955X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Liquid biopsy for minimally invasive diagnosis and monitoring of cancer patients is progressing toward routine clinical practice. With the implementation of highly sensitive next-generation sequencing (NGS) based assays for the analysis of cfDNA, however, consideration of the utility of liquid biopsy for clinical genetic testing is critical. While the focus of liquid biopsy for cancer diagnosis is the detection of circulating tumor DNA (ctDNA) as a fraction of total cell-free DNA (cfDNA), cfDNA analysis reveals both somatic mosaic tumor and germline variants and clonal hematopoiesis. Here we outline advantages and limitations of mosaic and germline variant detection as well as the impact of clonal hematopoiesis on liquid biopsy in cancer diagnosis. We also evaluate the potential of cfDNA analysis for the molecular diagnosis of monogenic mosaic disorders.

Indexed as

cancer diagnosticsclonal hematopoiesishuman geneticsliquid biopsymosaic disorders

Identifiers

PMID38835734
PMCPMC11006364

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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.