PGS Publication: PGP000482

Publication Information (EuropePMC)
Title Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.
PubMed ID 36872334(Europe PMC)
doi 10.1186/s12920-023-01469-z
Publication Date March 5, 2023
Journal BMC Med Genomics
Author(s) Hassanin E, Spier I, Bobbili DR, Aldisi R, Klinkhammer H, David F, Dueñas N, Hüneburg R, Perne C, Brunet J, Capella G, Nöthen MM, Forstner AJ, Mayr A, Krawitz P, May P, Aretz S, Maj C.
Released in PGS Catalog: Aug. 4, 2023

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Greater Middle Eastern
Hispanic or Latin American
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
PPM018551 PGS000765
(PRS_CRC95)
 PSS011020|
Multi-ancestry (including European)|
163,516 individuals
 PGP000482 |
Hassanin E et al. BMC Med Genomics (2023)
|Ext.		 Reported Trait: Colorectal cancer with pathogenic variant carriers — AUROC: 0.693 [0.66, 0.71]
C-index: 0.646		 Odds ratio (OR, high vs low tertile): 17.5 [9.0, 32.4] — —
PPM018552 PGS000765
(PRS_CRC95)
 PSS011020|
Multi-ancestry (including European)|
163,516 individuals
 PGP000482 |
Hassanin E et al. BMC Med Genomics (2023)
|Ext.		 Reported Trait: Incident colorectal cancer with pathogenic variant carriers — — Odds ratio (OR, high vs low tertile): 7.0 [2.04, 23.7] — —
PPM018553 PGS000765
(PRS_CRC95)
 PSS011020|
Multi-ancestry (including European)|
163,516 individuals
 PGP000482 |
Hassanin E et al. BMC Med Genomics (2023)
|Ext.		 Reported Trait: Colorectal cancer with family history of cancer — AUROC: 0.698 [0.67, 0.72]
C-index: 0.652		 Odds ratio (OR, high vs low tertile): 3.1 [2.6, 3.8] — —
PPM018554 PGS000765
(PRS_CRC95)
 PSS011020|
Multi-ancestry (including European)|
163,516 individuals
 PGP000482 |
Hassanin E et al. BMC Med Genomics (2023)
|Ext.		 Reported Trait: Colorectal cancer with family history of cancer and pathogenic variant carriers — AUROC: 0.704 [0.68, 0.73]
C-index: 0.657		 Odds ratio (OR, high vs low tertile): 39.9 [12.69, 125.41] — —
PPM018555 PGS000765
(PRS_CRC95)
 PSS011020|
Multi-ancestry (including European)|
163,516 individuals
 PGP000482 |
Hassanin E et al. BMC Med Genomics (2023)
|Ext.		 Reported Trait: Colorectal cancer — AUROC: 0.688 [0.66, 0.71]
C-index: 0.64		 — — —

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
PSS011020 ICD-10: C18.X or C20.X, D01.[0,1,2], D37.[4, 5] —
[
  • 1,902 cases
  • , 161,614 controls
]
 — European, Not reported — UKB —