Evidence map›Paper›PMID 40374631›Full record

ArticleNPJ genomic medicine2025

Novel germline and somatic variants in familial and sporadic meningioma genes.

Bouchra Ouled Amar Bencheikh, Allison A Dilliott, Julie Gauthier, Sandra Beatrice Laurent, Amirthagowri Ambalavanan, Dan Spiegelman, Alexandre Dionne-Laporte, Jaber Lyahyai, Robert L Martuza, Jörn P Sieb and 4 more

Abstract read
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In one paragraph

Article in NPJ genomic medicine, 2025. 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
–field-weighted citation impact
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.

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

14 authors.

Bouchra Ouled Amar BencheikhMontreal Neurological Institute, McGill University, Montréal, QC, Canada. bouchra.ouledamar@muhc.mcgill.ca.ORCID http://orcid.org/0009-0002-4537-9723
Allison A DilliottMontreal Neurological Institute, McGill University, Montréal, QC, Canada.
Julie GauthierMolecular Diagnostic Laboratory and Division of Medical Genetics, CHU Sainte-Justine, Montreal, QC, Canada.
Sandra Beatrice LaurentMontreal Neurological Institute, McGill University, Montréal, QC, Canada.
Amirthagowri AmbalavananMontreal Neurological Institute, McGill University, Montréal, QC, Canada.
Dan SpiegelmanMontreal Neurological Institute, McGill University, Montréal, QC, Canada.
Alexandre Dionne-LaporteMontreal Neurological Institute, McGill University, Montréal, QC, Canada.
Jaber LyahyaiCentre de Génomique Humaine, Faculté de Médecine et Pharmacie, Université Mohammed V, Rabat, Morocco.
Robert L MartuzaMolecular Neurosurgery Laboratory and the Brain Tumor Research Center, Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.
Jörn P SiebDepartment of Neurology, HELIOS Hanseklinikum Stralsund, Stralsund, Germany.
Sali M K FarhanMontreal Neurological Institute, McGill University, Montréal, QC, Canada.
Patrick A DionMontreal Neurological Institute, McGill University, Montréal, QC, Canada.
Stefan-M PulstDepartment of Neurology, University of Utah, Salt Lake City, UT, USA.
Guy A RouleauMontreal Neurological Institute, McGill University, Montréal, QC, Canada. guy.rouleau@mcgill.ca.ORCID http://orcid.org/0000-0001-8403-1418

Funding

Ataxin-2 complex proteins in neurodegeneration.R35NS127253 · NINDS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Stefan M. PULST · 2022 to 2026
$4.6M
NINDS NIH HHS R35 NS127253
6 · The paper itself

Abstract

Meningiomas arise from arachnoid cells in the meninges surrounding the brain and spinal cord and are attributed to NF2 pathogenic variants in, approximately 60% of cases. Using exome sequencing, we found heterozygous germline variants in nine potential novel meningioma genes across four families and four sporadic cases. We then screened for germline and somatic variants in these genes and 11 known meningioma genes in 76 sporadic meningiomas blood/tumor pairs. We identified 18 germline and 58 somatic variants in 18 of the 20 genes, including seven of our newly proposed meningioma genes: CSMD3, EXTL3, FAT3, RAB44, RARA, RECQL4, and TNRC6A. Chromosomal abnormalities were identified in 39 of 49 tumors that also carried germline or somatic variants, with 71.8% encompassing NF2. This study provides potential novel genetic risk factors of meningiomas appropriate for further exploration from the greater scientific community and pathways to consider in the design of future therapeutic approaches.

Identifiers

PMID40374631
PMCPMC12081709

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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.