Evidence map›Paper›PMID 38415346›Full record

ArticleThe Journal of clinical endocrinology and metabolism2024

Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.

Karin van der Tuin, Dina Ruano, Jeroen Knijnenburg, Rob B van der Luijt, Hans Morreau, Thera P Links, Frederik J Hes, Dutch Pediatric Thyroid Cancer Consortium

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of clinical endocrinology and metabolism, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.9field-weighted citation impact, top 9% 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

6 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Evolving trends in pediatric thyroid nodules and cancer management.Annals of pediatric endocrinology & metabolism · 2026
    Article
  3. Article
  4. Review
  5. Review
  6. Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.The Journal of clinical endocrinology and metabolism · 2024
    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

8 authors at 3 institutions in 2 countries.

Karin van der TuinDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.ORCID 0000-0002-5379-5084
Dina RuanoDepartment of Pathology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.ORCID 0000-0002-8231-3398
Jeroen KnijnenburgDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Rob B van der LuijtDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Hans MorreauDepartment of Pathology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Thera P LinksDepartment of Endocrinology, Internal Medicine, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands.ORCID 0000-0001-5327-1718
Frederik J HesDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Dutch Pediatric Thyroid Cancer Consortium
Leiden University Medical Center · NLUniversity Medical Center Groningen · NLVrije Universiteit Brussel · BE

Funding

Stichting Kinderen Kankervrij
6 · The paper itself

Abstract

contextThe underlying genetic cause of nonmedullary thyroid cancer (NMTC) in children is often unknown, hampering both predictive testing of family members and preventive clinical management.

objectiveOur objectives were to investigated the potential heritability in the largest childhood NMTC cohort that has been genotyped to date.

methodsNationwide retrospective cohort study in tertiary referral centers. In total, 97 patients diagnosed with pediatric NMTC between 1970 and 2020 were included in this study. Patients underwent germline whole genome sequencing. The main outcome measures were mutation detection yield in (1) clinically relevant tumor predisposition genes and (2) genes previously associated with NMTC.

resultsIn total, 13 of 97 patients (13%) carried a germline (likely) pathogenic variant in a well-known tumor predisposition gene: APC (n = 1), BRCA2 (n = 2), CHEK2 (n = 4), DICER1 (n = 4), HOXB13 (n = 1), and MITF (n = 1). In addition, 1 patient was diagnosed with Pendred syndrome (SLC26A4) and 9 variants of high interest were found in other NMTC candidate susceptibility genes.

conclusionThe reported prevalence (13%) of germline variants in well-known tumor predisposing genes and the added value of a revised personal/family history and histology led us to recommend genetic counseling for all patients with childhood NMTC. The detected tumor predisposition syndromes are associated with a risk for second cancers which necessitates additional surveillance of the index patients and presymptomatic genetic testing of at risk family members.

Indexed as

Genetic Predisposition to DiseaseGerm-Line MutationThyroid NeoplasmsAdenomatous Polyposis Coli ProteinAdolescentBRCA2 ProteinCheckpoint Kinase 2ChildChild, PreschoolDEAD-box RNA HelicasesFemaleGenetic TestingHumansInfantMaleRetrospective StudiesAdenomatous Polyposis Coli ProteinAPC protein, humanBRCA2 ProteinBRCA2 protein, humanCheckpoint Kinase 2CHEK2 protein, humanDEAD-box RNA HelicasesDICER1 protein, humanRibonuclease IIIgeneticsheritabilitynonmedullary thyroid cancerpediatrics

Identifiers

PMID38415346
PMCPMC11570363
OpenAlexW4392238187

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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.