Evidence map›Paper›PMID 34018157›Full record

ReviewMolecular diagnosis & therapy2021

Leveraging the Fragment Length of Circulating Tumour DNA to Improve Molecular Profiling of Solid Tumour Malignancies with Next-Generation Sequencing: A Pathway to Advanced Non-invasive Diagnostics in Precision Oncology?

Hunter R Underhill

Open access · hybridAbstract readReview
In one paragraph

Review in Molecular diagnosis & therapy, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed
3.0field-weighted citation impact, top 7% of its field
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

35 citing papers in PubMed, 46 citations in OpenAlex.

  1. Article
  2. Gene fusions in melanocytic lesions: an updated comprehensive review.Journal of pathology and translational medicine · 2026
    Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Review
  8. Advances in laboratory medicine · 2025
    Article
  9. Review
  10. Oncogenic gene fusions in cancer: from biology to therapy.Signal transduction and targeted therapy · 2025
    Review
  11. Review
  12. Review
  13. Article
  14. Review
  15. Review
  16. The journal of liquid biopsy · 2024
    Article
  17. Improving electrochemical hybridization assays with restriction enzymes.Chemical communications (Cambridge, England) · 2024
    Article
  18. Article
  19. Article
  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

1 author at 1 institution in 1 country.

Hunter R UnderhillDivision of Medical Genetics, Department of Pediatrics, University of Utah, 295 Chipeta Way, Salt Lake City, UT, 84108, USA. Hunter.Underhill@hsc.utah.edu.ORCID 0000-0002-7389-1487
University of Utah · US

Funding

Circulating Cell-Free DNA as a Personalized Biomarker to Diagnose and Monitor Glioblastoma ExtensionR37CA246183 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Hunter Reeve Underhill · 2020 to 2026
$2.4M
NCI NIH HHS R37 CA246183
6 · The paper itself

Abstract

Circulating cell-free DNA (ccfDNA) has emerged as a promising diagnostic tool in oncology. Identification of tumour-derived ccfDNA (i.e. circulating tumour DNA [ctDNA]) provides non-invasive access to a malignancy's molecular landscape to diagnose, inform therapeutic strategies, and monitor treatment efficacy. Current applications of ccfDNA to detect somatic mutations, however, have been largely constrained to tumour-informed searches and identification of common mutations because of the interaction between ctDNA signal and next-generation sequencing (NGS) noise. Specifically, the low allele frequency of ctDNA associated with non-metastatic and early-stage lesions may be indistinguishable from artifacts that accrue during sample preparation and NGS. Thus, using ccfDNA to achieve non-invasive and personalized molecular profiling to optimize individual patient care is a highly sought goal that remains limited in clinical practice. There is growing evidence, however, that further advances in the field of ccfDNA diagnostics may be achieved by improving detection of somatic mutations through leveraging the inherently shorter fragment lengths of ctDNA compared to non-neoplastic ccfDNA. Here, the origins and rationale for seeking to improve the mutation-based detection of ctDNA by using ccfDNA size profiling are reviewed. Subsequently, in vitro and in silico methods to enrich for a target ccfDNA fragment length are detailed to identify current practices and provide perspective into the potential of using ccfDNA size profiling to impact clinical applications in oncology.

Indexed as

MutationCirculating Tumor DNAEarly Detection of CancerGene FrequencyHigh-Throughput Nucleotide SequencingHumansNeoplasmsPrecision MedicineSensitivity and SpecificitySequence Analysis, DNACirculating Tumor DNA

Identifiers

PMID34018157
PMCPMC8249304
OpenAlexW3160863178

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.