Evidence map›Paper›PMID 40977813›Full record

ReviewAdvances in laboratory medicine2025

Circulating tumor DNA in patients with cancer: insights from clinical laboratory.

Francisco J Illana, Esther Fernández-Galán, José Luis Muñoz-Bravo, Laura Valiña Amado, Carme García Martín, Carolina González-Fernández, Sílvia Miró-Cañís, Jaume Trapé, Antonio Martínez-Peinado, Xavier Filella and 4 more

Abstract readReview
In one paragraph

Review in Advances in laboratory medicine, 2025. 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
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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

14 authors.

Francisco J IllanaDepartment of Biochemistry, Hospital de la Santa Creu i Sant Pau, IIB Sant Pau, Barcelona, Spain.ORCID https://orcid.org/0009-0001-9717-5688
Esther Fernández-GalánService of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, IDIBAPS, University of Barcelona, Barcelona, Spain.
José Luis Muñoz-BravoClinical Analysis Service, General University Hospital of Elche, Elche, Spain.ORCID https://orcid.org/0000-0001-6253-8330
Laura Valiña AmadoDepartment of Laboratory Medicine, Hospital Universitari Son Espases, Palma, Spain.
Carme García MartínClinical Analysis Laboratory, Biochemistry and Immunoassay Department, Germans Trias i Pujol University Hospital, Badalona, Spain.
Carolina González-FernándezDepartment of Laboratory Medicine, Althaia Xarxa Assistencial Universitària de Manresa, Manresa, Catalonia, Spain.
Sílvia Miró-CañísClinical Analysis Laboratory, CLILAB Diagnòstics, Vilafranca del Penedès, Spain.
Jaume TrapéDepartment of Laboratory Medicine, Althaia Xarxa Assistencial Universitària de Manresa, Manresa, Catalonia, Spain.
Antonio Martínez-PeinadoClinical Analysis Management Unit, Section of Molecular Genetics, Reina Sofía University Hospital, Córdoba, Spain.
Xavier FilellaService of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, IDIBAPS, University of Barcelona, Barcelona, Spain.
Alvaro GonzálezDepartment of Biochemistry, Clínica Universidad de Navarra, Pamplona, Spain.
Antonio Barco SánchezDepartment of Clinical Biochemistry, Virgen Macarena University Hospital, Seville, Spain.
Angel Díaz-LagaresDepartment of Clinical Analysis, University Hospital Complex of Santiago de Compostela (CHUS), Santiago de Compostela, Spain.
Commission on Biological Markers of Cancer of the Spanish Society of Laboratory Medicine

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Blood-based circulating tumor DNA (ctDNA) analysis has emerged as a highly relevant non-invasive method for molecular profiling of solid tumors, offering valuable information about the genetic landscape of cancer. Somatic mutation analysis of ctDNA is now used clinically to guide targeted therapies for advanced cancers. Recent advancements have also revealed its potential in early detection, prognosis, minimal residual disease assessment, and prediction/monitoring of therapeutic response. In recent years, significant progress has been made with the development of various PCR and NGS-based methods designed for assessing gene variants in ctDNA of patients with cancer. However, despite the transformative possibilities that ctDNA analysis presents, challenges persist. Standardization of preanalytical and analytical protocols, assay sensitivity, and the interpretation of results remain critical hurdles that need to be addressed for the widespread clinical implementation of ctDNA testing. In addition to somatic mutations, emerging studies on DNA methylation (epigenomics) and fragment size patterns (fragmentomics) in several types of biological fluids are yielding promising results as non-invasive biomarkers for effective cancer management. This review addresses the clinical applications of somatic gene variants in ctDNA, emphasizes their potential as cancer biomarkers, and highlights essential factors for successful implementation in clinical laboratories and cancer management.

Indexed as

biomarkerscancerctDNAliquid biopsysomatic gene variants

Identifiers

PMID40977813
PMCPMC12446922

What OpenQuestion holds

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Registered trials

None linked

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.