Evidence map›Paper›PMID 29912901›Full record

ArticlePLoS genetics2018

Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.

Benjamin J Halliday, Ryuji Fukuzawa, David M Markie, Richard G Grundy, Jackie L Ludgate, Michael A Black, Jane E Skeen, Robert J Weeks, Daniel R Catchpoole, Aedan G K Roberts and 2 more

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
3.4field-weighted citation impact, top 6% 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

23 citing papers in PubMed, 61 citations in OpenAlex.

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  16. Cold Spring Harbor molecular case studies · 2020
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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

12 authors at 5 institutions in 4 countries.

Benjamin J HallidayDepartment of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Ryuji FukuzawaDepartment of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.ORCID 0000-0002-3996-3117
David M MarkieDepartment of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Richard G GrundyChildren's Brain Tumour Research Centre, University of Nottingham, Nottingham, United Kingdom.
Jackie L LudgateDepartment of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Michael A BlackCancer Genetics Laboratory, Department of Biochemistry, University of Otago, Dunedin, New Zealand.
Jane E SkeenStarship Children's Hospital, Auckland, New Zealand.ORCID 0000-0002-2442-8170
Robert J WeeksDepartment of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Daniel R CatchpooleTumour Bank, Children's Cancer Research Unit, The Children's Hospital at Westmead, Westmead, NSW, Australia.
Aedan G K RobertsTumour Bank, Children's Cancer Research Unit, The Children's Hospital at Westmead, Westmead, NSW, Australia.ORCID 0000-0002-6429-6133
Anthony E ReeveCancer Genetics Laboratory, Department of Biochemistry, University of Otago, Dunedin, New Zealand.
Ian M MorisonDepartment of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.ORCID 0000-0003-3616-0025
University of Otago · NZChildren's Hospital at Westmead · AUInternational University of Health and Welfare · JPStarship Children's Health · NZUniversity of Nottingham · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Wilms tumour is a childhood tumour that arises as a consequence of somatic and rare germline mutations, the characterisation of which has refined our understanding of nephrogenesis and carcinogenesis. Here we report that germline loss of function mutations in TRIM28 predispose children to Wilms tumour. Loss of function of this transcriptional co-repressor, which has a role in nephrogenesis, has not previously been associated with cancer. Inactivation of TRIM28, either germline or somatic, occurred through inactivating mutations, loss of heterozygosity or epigenetic silencing. TRIM28-mutated tumours had a monomorphic epithelial histology that is uncommon for Wilms tumour. Critically, these tumours were negative for TRIM28 immunohistochemical staining whereas the epithelial component in normal tissue and other Wilms tumours stained positively. These data, together with a characteristic gene expression profile, suggest that inactivation of TRIM28 provides the molecular basis for defining a previously described subtype of Wilms tumour, that has early age of onset and excellent prognosis.

Indexed as

Germ-Line MutationLoss of Function MutationAdultBiomarkers, TumorEpigenesis, GeneticExome SequencingFemaleGene Expression ProfilingHumansKidneyKidney NeoplasmsMaleNeoplasm Recurrence, LocalPrognosisTripartite Motif-Containing Protein 28UrotheliumBiomarkers, TumorTRIM28 protein, humanTripartite Motif-Containing Protein 28

Identifiers

PMID29912901
PMCPMC6005459
OpenAlexW2809618310

What OpenQuestion holds

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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.