PGS Publication: PGP000583

Publication Information (EuropePMC)
Title Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome.
PubMed ID 37321833(Europe PMC)
doi 10.1136/jmg-2023-109344
Publication Date June 15, 2023
Journal J Med Genet
Author(s) Dueñas N, Klinkhammer H, Bonifaci N, Spier I, Mayr A, Hassanin E, Diez-Villanueva A, Moreno V, Pineda M, Maj C, Capellà G, Aretz S, Brunet J.
Released in PGS Catalog: Feb. 20, 2024

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)
PGS000765
(PRS_CRC95)
 PGP000170 |
Huyghe JR et al. Nat Genet (2018)
 Colorectal cancer colorectal cancer 95
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000765/ScoringFiles/PGS000765.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
PPM020769 PGS000765
(PRS_CRC95)
 PSS011399|
European Ancestry|
1,428 individuals
 PGP000583 |
Dueñas N et al. J Med Genet (2023)
|Ext.		 Reported Trait: Colorectal cancer or advanced adenoma in individuals with Lynch syndrome HR: 1.019 [1.005, 1.032] — — Sex, birth cohort, other Lynch syndrome-related cancers —

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
PSS011399 — —
[
  • 733 cases
  • , 695 controls
]
 — European — ICO, UKBonn —