Evidence map›Paper›PMID 28929227›Full record

Observational studyEuropean journal of pediatrics2018

Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.

Triantafyllia Brozou, Julia Taeubner, Eunike Velleuer, Martin Dugas, Dagmar Wieczorek, Arndt Borkhardt, Michaela Kuhlen

Erratum issuedOpen access · hybridAbstract readObservational Study
In one paragraph

Observational study in European journal of pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
3.1field-weighted citation impact, top 8% 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

22 citing papers in PubMed, 42 citations in OpenAlex.

  1. Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026
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  13. Resolving inherited andFrontiers in pediatrics · 2022
    Article
  14. Review
  15. Article
  16. Cancer Genetic Counseling-Current Practice and Future Challenges.Cold Spring Harbor perspectives in medicine · 2020
    Review
  17. Review
  18. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 1 country.

Triantafyllia BrozouDepartment of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225, Duesseldorf, Germany.
Julia TaeubnerDepartment of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225, Duesseldorf, Germany.
Eunike VelleuerDepartment of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225, Duesseldorf, Germany.
Martin DugasInstitute of Medical Informatics, University of Muenster, Muenster, Germany.
Dagmar WieczorekInstitute of Human Genetics, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.
Arndt BorkhardtDepartment of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225, Duesseldorf, Germany.
Michaela KuhlenDepartment of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225, Duesseldorf, Germany. Michaela.Kuhlen@med.uni-duesseldorf.de.ORCID http://orcid.org/0000-0003-4577-0503
Düsseldorf University Hospital · DEHeinrich Heine University Düsseldorf · DEUniversity of Münster · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A considerable percentage of childhood cancers are due to cancer predisposition syndromes (CPS). The ratio of CPSs caused by inherited versus de novo germline mutations and the risk of recurrence in other children are unknown. We initiated a prospective study performing whole-exome sequencing (WES) of parent-child trios in children newly diagnosed with cancer. We initially aimed to determine the interest in and acceptance of trio WES among affected families and to systematically collect demographic, medical, and family history data to analyze whether these point to an underlying CPS. Between January 2015 and December 2016, 83 (88.3%) of 94 families participated; only 11 (11.7%) refused to participate. Five (6.0%) children presented with congenital malignancies and three (3.6%) with tumors with a high likelihood of an underlying CPS. Two (2.5%) families showed malignancies in family members < 18 years, 11 (13.8%) showed relatives < 45 years with cancer, 37 (46.3%) had a positive cancer history, and 14 (17.5%) families had > 1 relative with cancer.

conclusionsGenetic testing in pediatric oncology is of great interest to the families, and the vast majority opts for investigation into potentially underlying CPSs. Trio sequencing provides unique insights into CPS in pediatric cancers and is increasingly becoming a common approach in modern oncology, and thus, trio sequencing needs also to be integrated routinely into the practice of pediatric oncology. What is Known: • A considerable percentage of childhood cancers are due to cancer predisposition syndromes (CPS). What is New: • Knowing about an underlying CPS and, thus, the risk of recurrence in other children is of great interest to affected families.

Indexed as

Attitude to HealthExome SequencingGenetic Predisposition to DiseaseGenetic TestingAdolescentAdultChildChild, PreschoolFamilyFemaleHumansInfantInfant, NewbornInformed ConsentMaleMiddle AgedCancer predisposition syndromeChildrenTrioWhole-exome sequencing

Identifiers

PMID28929227
PMCPMC5748429
OpenAlexW2755549738

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.