Evidence map›Paper›PMID 38168858›Full record

ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2024

Germline BRCA2 pathogenic variants in pediatric ganglioglioma: Case report and review of the literature.

Anya Gupta, Mirna Lechpammer, Nicole M Brossier

Abstract readReviewCase Reports
PubMed Publisher
In one paragraph

Review in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.2field-weighted citation impact, top 48% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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

3 authors at 1 institution in 1 country.

Anya GuptaDepartments of Pediatrics, Washington University School of Medicine, Box 8208, 660 South Euclid Avenue, St. Louis, MO, 63110, USA.
Mirna LechpammerFoundation One Medicine, Cambridge, USA.
Nicole M BrossierDepartments of Pediatrics, Washington University School of Medicine, Box 8208, 660 South Euclid Avenue, St. Louis, MO, 63110, USA. nbrossier@wustl.edu.ORCID 0000-0002-4197-6283
Washington University in St. Louis · US

Funding

St. Louis Children's Hospital Foundation FDN20231203
6 · The paper itself

Abstract

backgroundBRCA1 and BRCA2 are tumor suppressor genes associated with increased risk of breast and ovarian cancer in adulthood. Patients with germline pathogenic variants in these genes have also been reported to develop brain tumors, although it is unclear whether these syndromes are associated with significant increased risk of brain tumor formation.

resultsHere, we report a case of a child with germline BRCA2 pathogenic variant presenting with a symptomatic ganglioglioma. To our knowledge, this is the first such patient to be reported. We discuss prior cases of brain tumors in BRCA1/2 patients and evidence for a potential role for BRCA1/2 pathogenic variants in brain tumor formation.

conclusionBRCA2 germline variants may increase the risk of developing some types of pediatric brain tumors, but further study is needed to determine its effect on low-grade glioma formation.

Indexed as

Brain NeoplasmsGangliogliomaOvarian NeoplasmsBRCA1 ProteinBRCA2 ProteinChildFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA2GangliogliomaGermline pathogenic variantPediatricTumor suppressor gene

Identifiers

PMID38168858
OpenAlexW4390519920

What OpenQuestion holds

Textmetadata
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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.