Polygenic Score (PGS) ID: PGS000353

Predicted Trait
Reported Trait Any Cancer
Mapped Trait(s) cancer (EFO_0000311)
Released in PGS Catalog: Dec. 15, 2020
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Score Details

Score Construction
PGS Name PRSWEB_PHECODE10001_UKBB-SAIGE-HRC-X10001_P_5e-08_MGI_20200608
Variants
Original Genome Build GRCh37
Number of Variants 14
Development Method
Name GWAS Hits
Parameters LD Clumping (MAF >= 1%, r^2 <= 0.1) & P<=5e-08
PGS Source
PGS Catalog Publication (PGP) ID PGP000118
Citation (link to publication) Fritsche LG et al. Am J Hum Genet (2020)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
EuropePMC: 32424355
[
  • 69,190 cases
  • , 302,026 controls
]
 European
Score Development/Training
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
PheCode:10001; ICD9CM:; ICD10CM: —
[
  • 10,357 cases
  • , 4,800 controls
]
 — European — MGI —

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 ID) 		PGS Sample Set ID
(PSS ID) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001038 PSS000533 PGP000118
Fritsche LG et al. (2020) 		Reported Trait: Any Cancer OR: 1.08 [1.041, 1.122]
β: 0.0774 (0.0191)		 AUROC: 0.515 [0.503, 0.526] Nagelkerke's Pseudo-R²: 0.00151
Brier score: 0.182
Odds Ratio (OR, top 1% vs. Rest): 1.48 [1.04, 2.1]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE10001_UKBB-SAIGE-HRC-X10001_P_5e-08_MGI_20200608

Evaluated Samples

PGS Sample Set ID
(PSS ID) 		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
PSS000533 Any Cancer PheCode —
[
  • 10,394 cases
  • , 4,892 controls
]
 — European — MGI —