PGS Publication: PGP000350

Publication Information (EuropePMC)
Title Combined Performance of Fecal Immunochemical Tests and a Genetic Risk Score for Advanced Neoplasia Detection.
PubMed ID 35679356(Europe PMC)
doi 10.1158/1940-6207.capr-21-0552
Publication Date Aug. 1, 2022
Journal Cancer Prev Res (Phila)
Author(s) Niedermaier T, Guo F, Weigl K, Hoffmeister M, Brenner H.
Released in PGS Catalog: Aug. 3, 2022

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

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)
PGS002265
(PRS140_CRC)
 PGP000294 |
Thomas M et al. Am J Hum Genet (2020)
 Colorectal cancer colorectal cancer 140
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002265/ScoringFiles/PGS002265.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
PPM014884 PGS002265
(PRS140_CRC)
 PSS009918|
European Ancestry|
5,306 individuals
 PGP000350 |
Niedermaier T et al. Cancer Prev Res (Phila) (2022)
|Ext.		 Reported Trait: Advanced colorectal neoplasia (Ridascreen model) OR: 1.025
β: 0.02451		 AUROC: 0.524 [0.499, 0.55] — — —
PPM014885 PGS002265
(PRS140_CRC)
 PSS009918|
European Ancestry|
5,306 individuals
 PGP000350 |
Niedermaier T et al. Cancer Prev Res (Phila) (2022)
|Ext.		 Reported Trait: Advanced colorectal neoplasia (FOB Gold model) OR: 1.036
β: 0.03518		 AUROC: 0.53 [0.516, 0.545] — — —

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
PSS009918 — — 5,306 individuals,
51.9 % Male samples
 Mean = 62.1 years European — BLITZ —