Evidence map›Paper›PMID 35230882›Full record

ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2022

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.

Janna A Hol, Roland P Kuiper, Freerk van Dijk, Esmé Waanders, Sophie E van Peer, Marco J Koudijs, Reno Bladergroen, Simon V van Reijmersdal, Lionel M Morgado, Jet Bliek and 6 more

Open access · hybridAbstract read
In one paragraph

Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed
5.2field-weighted citation impact, top 3% 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

37 citing papers in PubMed, 61 citations in OpenAlex.

  1. Review
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  10. Wilms tumor characteristics in children with heterozygous germline DIS3L2 variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  11. Article
  12. Review
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  16. Article
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  19. Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents-To Test or not to Test?Clinical cancer research : an official journal of the American Association for Cancer Research · 2024
    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

16 authors at 4 institutions in 1 country.

Janna A HolPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.ORCID 0000-0002-3156-5229
Roland P KuiperPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Freerk van DijkPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Esmé WaandersDepartment of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.ORCID 0000-0002-2466-953X
Sophie E van PeerPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.ORCID 0000-0001-5484-9112
Marco J KoudijsPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Reno BladergroenPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Simon V van ReijmersdalPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Lionel M MorgadoPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Jet BliekDepartment of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.ORCID 0000-0003-4549-6655
Maria Paola LombardiDepartment of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Saskia HopmanDepartment of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Jarno DrostPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.ORCID 0000-0002-2941-6179
Ronald R de KrijgerPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Marry M van den Heuvel-EibrinkPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Marjolijn C J JongmansPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Princess Máxima Center · NLUniversity Medical Center Utrecht · NLAmsterdam University Medical Centers · NLOncode Institute · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeWilms tumor (WT) is associated with (epi)genetic predisposing factors affecting a growing number of WT predisposing genes and loci, including those causing Beckwith-Wiedemann spectrum (BWSp) or PATIENTS AND

methodsAll children diagnosed with WT in the Netherlands between 2015 and 2020 were referred to a clinical geneticist. Phenotypic data, disease characteristics, and diagnostic test results were collected. If no genetic predisposition was identified by targeted diagnostic testing, germline (trio-)whole-exome sequencing and BWSp testing on normal kidney-derived DNA were offered.

resultsA total of 126 cases were analyzed of 128 identified patients. (Epi)genetic predisposing factors were present in 42 of 126 patients (33.3%) on the basis of a molecular diagnosis in blood-derived DNA (n = 26), normal kidney-derived DNA (n = 12), or solely a clinical diagnosis of BWSp (n = 4). Constitutional, heterozygous

conclusion(Epi)genetic WT predisposing factors, including mosaic aberrations and recurrent heterozygous

Indexed as

Beckwith-Wiedemann SyndromeKidney NeoplasmsWilms TumorAdultCausalityChildGenetic Predisposition to DiseaseGenomicsGerm-Line MutationHumansPrevalence

Identifiers

PMID35230882
PMCPMC9177240
OpenAlexW4214829647

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.