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
|
Mapped terms |
18 mapped terms
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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 |
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 | — |
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) | — | [
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— | European (British) |
— | UKB | Controls were samples without any cancer diagnosis or self-reported cancer |