Evidence map›Paper›PMID 41869074›Full record

ArticleNeuro-oncology advances

Discovery of genetic susceptibility variants in pediatric and adult ependymoma.

Joshua D Strauss, Priya B Shetty, Spiridon Tsavachidis, Jinyoung Byun, Stephen C Mack, Xiao Xiangjun, Terri S Armstrong, Mark R Gilbert, (on behalf of NCI-CONNECT), Lisa Mirabello and 16 more

Abstract read
In one paragraph

Article in Neuro-oncology advances. 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

26 authors.

Joshua D StraussCenter for Epidemiology and Population Health, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.ORCID https://orcid.org/0000-0002-2724-0851
Priya B ShettyDepartment of Medicine, Section of Epidemiology and Population Sciences, Baylor College of Medicine, Houston, Texas.ORCID https://orcid.org/0000-0002-2086-3319
Spiridon TsavachidisDepartment of Medicine, Section of Epidemiology and Population Sciences, Baylor College of Medicine, Houston, Texas.
Jinyoung ByunDivision of Epidemiology, Biostatistics, and Preventive Medicine, Department of Internal Medicine, University of New Mexico School of Medicine, Albuquerque, New Mexico.
Stephen C MackDevelopmental Neurobiology, St Jude Children's Research Hospital, Memphis, Tennessee.
Xiao XiangjunDepartment of Medicine, Section of Epidemiology and Population Sciences, Baylor College of Medicine, Houston, Texas.
Terri S ArmstrongCenter for Cancer Research, National Cancer Institute, Bethesda, Maryland.ORCID https://orcid.org/0000-0002-2414-0492
Mark R GilbertCenter for Cancer Research, National Cancer Institute, Bethesda, Maryland.ORCID https://orcid.org/0000-0003-2556-9722
(on behalf of NCI-CONNECT)
Lisa MirabelloDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland.ORCID https://orcid.org/0000-0001-8485-0106
Wendy M LeisenringClinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.ORCID https://orcid.org/0000-0001-7405-0906
Lindsay M MortonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland.
Gregory T ArmstrongEpidemiology and Cancer Control, St Jude Children's Research Hospital, Memphis, Tennessee.ORCID https://orcid.org/0000-0001-8722-4207
Jon Foss-SkiftesvikDepartment of Neurosurgery, Rigshospitalet University Hospital, Copenhagen, Denmark.
Christian Munch HagenDepartment of Neurosurgery, Rigshospitalet University Hospital, Copenhagen, Denmark.
Jonas Bybjerg-GrauholmDanish Center for Neonatal Screening, Department of Congenital Diseases and Neonatal Genetics, Statens Serum Institut, Copenhagen, Denmark.
iPSYCH Consortium
Manel GhozalThe Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH); Center for Research in Epidemiology and Statistics CRESS, Epidemiology of Childhood and Adolescent Cancer Team, University Paris Cité, University Paris Sorbonne Nord, INSERM, INRAe, Villejuif, France.
Audrey BonaventureThe Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH); Center for Research in Epidemiology and Statistics CRESS, Epidemiology of Childhood and Adolescent Cancer Team, University Paris Cité, University Paris Sorbonne Nord, INSERM, INRAe, Villejuif, France.ORCID https://orcid.org/0000-0001-6665-8145
Jacqueline ClavelThe Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH); Center for Research in Epidemiology and Statistics CRESS, Epidemiology of Childhood and Adolescent Cancer Team, University Paris Cité, University Paris Sorbonne Nord, INSERM, INRAe, Villejuif, France.
Melissa L BondyDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, California.ORCID https://orcid.org/0000-0002-0278-414X
(on behalf of GICC)
Christopher I AmosDivision of Epidemiology, Biostatistics, and Preventive Medicine, Department of Internal Medicine, University of New Mexico School of Medicine, Albuquerque, New Mexico.
Thanh T HoangCenter for Epidemiology and Population Health, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.ORCID https://orcid.org/0000-0002-8498-0020
Michael E ScheurerDepartment of Pediatrics, Emory University School of Medicine, Atlanta, Georgia.ORCID https://orcid.org/0000-0002-8379-6088

Funding

Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Markos Leggas · 1985 to 2026
$166.9M
Mach-LETSGO: Machine-LEarning of Treatment, Survey, and Genetics towards Obtaining Correct Classification of Chronic Conditions in Adult Survivors in the Childhood Cancer Survivor Study - CCSS SupplU24CA055727 · NCI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI Gregory Armstrong · 1999 to 2026
$96.7M
NCI NIH HHS P30 CA021765NCI NIH HHS U24 CA055727
6 · The paper itself

Abstract

Background: Ependymoma is a malignancy of the neuroepithelium-derived ependyma that lines the spinal cord and ventricles of the brain, occurring most frequently in young children and older adults. Genetic susceptibility to ependymoma has proven difficult to assess due to disease rarity. Methods: We performed genome-wide association studies (GWAS) of 478 ependymoma patients and 4,841 disease-free controls of European ancestry. Ependymoma patients consisted of 117 children (<18 years old) with whole-genome sequencing (WGS), 142 children with genotyping, and 219 adults (≥18 years old) with genotyping. Genotyped samples were imputed using the 1,000 Genomes Project as the reference panel and underwent quality control filtering. The GWAS was performed separately by age group and technology (genotyped or WGS). GWAS variants were considered significant at Results: Among pediatric subjects with WGS data, we identified a significant intronic variant in Conclusion: Our analysis represents one of the most extensive ependymoma-specific GWAS conducted to date. Several significant intronic variants were harbored in genes associated with cancer and neurological disease. Future studies are needed to investigate the role of these age-specific alterations in ependymoma pathogenesis.

Indexed as

central nervous system tumorependymomagenome-wide association studygermlinesingle nucleotide polymorphism

Identifiers

PMID41869074
PMCPMC13000888

What Socratic 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 Socratic graph.