Evidence map›Paper›PMID 31092228›Full record

ReviewBMC cancer2019

Portrait of a cancer: mutational signature analyses for cancer diagnostics.

Arne Van Hoeck, Niels H Tjoonk, Ruben van Boxtel, Edwin Cuppen

Abstract readReview
In one paragraph

Review in BMC cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.

0numbers the graph read from it
0cells of the map it votes in
61citing 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

61 citing papers in PubMed.

  1. Article
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  7. New Gain-of-Function Mutations Prioritize Mechanisms of HER2 Activation.medRxiv : the preprint server for health sciences · 2025
    Article
  8. Review
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  15. Review
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  18. Undifferentiated and Dedifferentiated Metastatic Melanomas Masquerading as Soft Tissue Sarcomas: Mutational Signature Analysis and Immunotherapy Response.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023
    Article
  19. Article
  20. Mutational signatures for breast cancer diagnosis using artificial intelligence.Journal of the Egyptian National Cancer Institute · 2023
    Article

1 more citing papers are in PubMed but not listed here.

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

4 authors.

Arne Van HoeckCenter for Molecular Medicine and Oncode Institute, University Medical Centre Utrecht, Heidelberglaan 100, 3584CX, Utrecht, The Netherlands. A.VanHoeck@umcutrecht.nl.ORCID http://orcid.org/0000-0002-6570-1452
Niels H TjoonkCenter for Molecular Medicine and Oncode Institute, University Medical Centre Utrecht, Heidelberglaan 100, 3584CX, Utrecht, The Netherlands.
Ruben van BoxtelPrincess Máxima Center for Pediatric Oncology and Oncode Institute, Heidelberglaan 25, 3584CS, Utrecht, The Netherlands.
Edwin CuppenCenter for Molecular Medicine and Oncode Institute, University Medical Centre Utrecht, Heidelberglaan 100, 3584CX, Utrecht, The Netherlands.

Funding

NWO zwaartekracht Zenith project 93512003
6 · The paper itself

Abstract

backgroundIn the past decade, systematic and comprehensive analyses of cancer genomes have identified cancer driver genes and revealed unprecedented insight into the molecular mechanisms underlying the initiation and progression of cancer. These studies illustrate that although every cancer has a unique genetic make-up, there are only a limited number of mechanisms that shape the mutational landscapes of cancer genomes, as reflected by characteristic computationally-derived mutational signatures. Importantly, the molecular mechanisms underlying specific signatures can now be dissected and coupled to treatment strategies. Systematic characterization of mutational signatures in a cancer patient's genome may thus be a promising new tool for molecular tumor diagnosis and classification.

resultsIn this review, we describe the status of mutational signature analysis in cancer genomes and discuss the opportunities and relevance, as well as future challenges, for further implementation of mutational signatures in clinical tumor diagnostics and therapy guidance.

conclusionsScientific studies have illustrated the potential of mutational signature analysis in cancer research. As such, we believe that the implementation of mutational signature analysis within the diagnostic workflow will improve cancer diagnosis in the future.

Indexed as

DNA Mutational AnalysisHumansMolecular Diagnostic TechniquesNeoplasmsWhole Genome SequencingMutational signature, Cancer diagnosis, Cancer biomarkers, Cancer genomics, Molecular medicine, Whole genome sequencing

Identifiers

PMID31092228
PMCPMC6521503

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.