Evidence map›Paper›PMID 34061292›Full record

ArticleFamilial cancer2021

Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel.

Anna Byrjalsen, Illja J Diets, Jette Bakhuizen, Thomas van Overeem Hansen, Kjeld Schmiegelow, Anne-Marie Gerdes, Ulrik Stoltze, Roland P Kuiper, Johannes H M Merks, Karin Wadt and 1 more

Open access · hybridAbstract read
In one paragraph

Article in Familial cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.3field-weighted citation impact, top 12% 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

14 citing papers in PubMed, 19 citations in OpenAlex.

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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

11 authors at 4 institutions in 2 countries.

Anna Byrjalsen *Department of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen East, Denmark.ORCID 0000-0002-3470-5995
Illja J Diets *Department of Human Genetics, Radboudumc, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.ORCID 0000-0001-7603-8898
Jette BakhuizenPrincess Máxima Center for Pediatric Oncology, Heidelberglaan 25, 3584 CS, Utrecht, The Netherlands.
Thomas van Overeem HansenDepartment of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen East, Denmark.
Kjeld SchmiegelowDepartment of Paediatrics and Adolescent Medicine, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen East, Denmark.
Anne-Marie GerdesDepartment of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen East, Denmark.
Ulrik StoltzeDepartment of Paediatrics and Adolescent Medicine, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen East, Denmark.
Roland P KuiperPrincess Máxima Center for Pediatric Oncology, Heidelberglaan 25, 3584 CS, Utrecht, The Netherlands.
Johannes H M MerksPrincess Máxima Center for Pediatric Oncology, Heidelberglaan 25, 3584 CS, Utrecht, The Netherlands.
Karin WadtDepartment of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen East, Denmark.ORCID 0000-0003-2882-6798
Marjolijn JongmansPrincess Máxima Center for Pediatric Oncology, Heidelberglaan 25, 3584 CS, Utrecht, The Netherlands. m.c.j.jongmans-3@umcutrecht.nl.
Rigshospitalet · DKUtrecht University · NLPrincess Máxima Center · NLRadboud University Nijmegen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Increasing use of genomic sequencing enables standardized screening of all childhood cancer predisposition syndromes (CPS) in children with cancer. Gene panels currently used often include adult-onset CPS genes and genes without substantial evidence linking them to cancer predisposition. We have developed criteria to select genes relevant for childhood-onset CPS and assembled a gene panel for use in children with cancer. We applied our criteria to 381 candidate genes, which were selected through two in-house panels (n = 338), a literature search (n = 39), and by assessing two Genomics England's PanelApp panels (n = 4). We developed evaluation criteria that determined a gene's eligibility for inclusion on a childhood-onset CPS gene panel. These criteria assessed (1) relevance in childhood cancer by a minimum of five childhood cancer patients reported carrying a pathogenic variant in the gene and (2) evidence supporting a causal relation between variants in this gene and cancer development. 138 genes fulfilled the criteria. In this study we have developed criteria to compile a childhood cancer predisposition gene panel which might ultimately be used in a clinical setting, regardless of the specific type of childhood cancer. This panel will be evaluated in a prospective study. The panel is available on (pediatric-cancer-predisposition-genepanel.nl) and will be regularly updated.

Indexed as

Genetic TestingNeoplastic Syndromes, HereditaryChildGenetic Predisposition to DiseaseHumansPatient SelectionProspective StudiesChildhood cancer predisposition syndromeGene panelGene selectionGenetic predispositionPediatric cancer

Identifiers

PMID34061292
PMCPMC8484084
OpenAlexW3164138941

What OpenQuestion holds

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LicenceCC BY
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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.