Trait: glioblastoma

Trait Information
Identifier MONDO_0018177
Description The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO) [NCIT: C3058]
Trait categories
Cancer
Neurological disorder
Synonyms 12 synonyms
  • GBM
  • GBM (glioblastoma)
  • WHO grade IV glioma
  • glioblastoma
  • glioblastoma (disease)
  • glioblastoma multiforme
  • glioblastoma multiforme (disease)
  • grade IV astrocytic neoplasm
  • grade IV astrocytic tumor
  • grade IV astrocytoma
  • primary glioblastoma multiforme
  • spongioblastoma multiforme
Mapped terms 18 mapped terms
  • DOID:3068
  • GARD:0002491
  • HP:0012174
  • HP:0100843
  • ICDO:9440/3
  • MESH:D005909
  • MedDRA:10018336
  • MedDRA:10018337
  • NCIT:C3058
  • OMIM:137800
  • OMIM:613029
  • ONCOTREE:GB
  • ONCOTREE:GBM
  • Orphanet:360
  • SCTID:393563007
  • UMLS:C0017636
  • UMLS:C1621958
  • UMLS:CN227279

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:
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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
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Additional Asian Ancestries
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Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
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
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
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