Trait: neuroepithelial neoplasm

Trait Information
Identifier MONDO_0021193
Description A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors. [NCIT: C3787]
Trait categories
Neurological disorder
Other disease
Synonyms 20 synonyms
  • neoplasm of neuroepithelial tissue
  • neoplasm of neuroepithelium
  • neoplasm of the neuroepithelium
  • neuroepithelial neoplasm
  • neuroepithelial neoplasms
  • neuroepithelial tissue neoplasm
  • neuroepithelial tissue tumor
  • neuroepithelial tissue tumour
  • neuroepithelial tumor
  • neuroepithelial tumors
  • neuroepithelial tumour
  • neuroepithelial tumours
  • primary neuroepithelial tumor
  • primary neuroepithelial tumour
  • tumor of neuroepithelial tissue
  • tumor of neuroepithelium
  • tumor of the neuroepithelium
  • tumour of neuroepithelial tissue
  • tumour of neuroepithelium
  • tumour of the neuroepithelium
Child trait(s) 3 child traits

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows PGS for child terms of "neuroepithelial neoplasm" in the EFO hierarchy.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000155
(cGRS_Glioma)
 PGP000075 |
Shi Z et al. Cancer Med (2019)
 Glioma glioma 19
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000155/ScoringFiles/PGS000155.txt.gz
PGS000781
(GRS7_Glio)
 PGP000185 |
Adel Fahmideh M et al. Sci Rep (2019)
 Glioma glioma,
brain neoplasm		 5
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000781/ScoringFiles/PGS000781.txt.gz
PGS002261
(PRS22_NB)
 PGP000287 |
Testori A et al. Cancer Epidemiol Biomarkers Prev (2022)
 Neuroblastoma neuroblastoma 22
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002261/ScoringFiles/PGS002261.txt.gz
PGS002302
(PRS28_glioma)
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Glioma glioma 28
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002302/ScoringFiles/PGS002302.txt.gz
PGS003384
(best_GBM)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Glioblastoma glioblastoma 910
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003384/ScoringFiles/PGS003384.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM000475 PGS000155
(cGRS_Glioma)
 PSS000275|
European Ancestry|
14,419 individuals
 PGP000075 |
Shi Z et al. Cancer Med (2019)
 Reported Trait: Glioma — — Mean realative risk: 1.22 [1.18, 1.26]
Wilcoxon test (case vs. control) p-value: 1.39e-37		 — —
PPM000486 PGS000155
(cGRS_Glioma)
 PSS000275|
European Ancestry|
14,419 individuals
 PGP000075 |
Shi Z et al. Cancer Med (2019)
 Reported Trait: Glioma — — Odds Ratio (OR; high vs. average risk groups): 1.8 [1.55, 2.1] — —
PPM002036 PGS000781
(GRS7_Glio)
 PSS001009|
Multi-ancestry (including European)|
734 individuals
 PGP000185 |
Adel Fahmideh M et al. Sci Rep (2019)
 Reported Trait: Pediatric brain tumors OR: 1.25 [1.06, 1.49] — R²: 0.012 Age, sex, country —
PPM012873 PGS002261
(PRS22_NB)
 PSS009587|
African Ancestry|
3,619 individuals
 PGP000287 |
Testori A et al. Cancer Epidemiol Biomarkers Prev (2022)
 Reported Trait: Neuroblastoma risk — — R²: 0.0203 — —
PPM013031 PGS002302
(PRS28_glioma)
 PSS009663|
European Ancestry|
312 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Glioma — AUROC: 0.61 [0.57, 0.64] — — —
PPM013039 PGS002302
(PRS28_glioma)
 PSS009663|
European Ancestry|
312 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Glioma — — Hazard ratio (HR top 5% vs average): 2.55 [1.72, 3.77] Age, birth cohort, genotyping array, top 10 PCs for ancestry and sex (for nonsex specific cancer only) —
PPM016259 PGS003384
(best_GBM)
 PSS010078|
European Ancestry|
269,806 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: glioblastoma — AUROC: 0.758 R²: 0.0216 age, sex, top 20 genetic principal components —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS009587 — —
[
  • 629 cases
  • , 2,990 controls
]
 — African American or Afro-Caribbean
(African American)		 — COG —
PSS009663 glioma (ICD-9 = 191 or ICD-10 = C71; ICD-O: 9380-9480) — 312 individuals — European — UKB —
PSS010078 C71, histology was either Giant cell glioblastoma or Glioblastoma (NOS) —
[
  • 262 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS000275 Primary tumor samples from TCGA —
[
  • 992 cases
  • , 0 controls
]
 Mean = 52.0 years
Sd = 16.0 years		 European — TCGA —
PSS000275 — —
[
  • 0 cases
  • , 13,427 controls
]
 — European — eMERGE —
PSS001009 Cases include participants with the following tumors: Astrocytomas (ICCC-3 group IIIb), Other gliomas (ICCC-3 group IIId), Ependymomas (ICCC-3 group IIIa), Intracranial embryonal tumors (ICCC-3 group IIIc), other specified intracranial neoplasms (ICCC-3 group IIIe), unspecified intracranial neoplasms (ICCC-3 group IIIf) —
[
  • 245 cases
  • , 489 controls
]
,
54.09 % Male samples
 — European, NR European = 454, NR =280 CEFALO —