PGS Publication: PGP000102

Publication Information (EuropePMC)
Title The role of polygenic risk and susceptibility genes in breast cancer over the course of life
PubMed ID 33318493(Europe PMC)
doi 10.1038/s41467-020-19966-5
Publication Date Dec. 14, 2020
Journal Nat Commun
Author(s) Mars N, Widen E, Kerminen S, Meretoja T, Pirinen M, della Briotta Parolo P, Palta P, Palotie A, Kaprio J, Joensuu H, Daly M, Ripatti S, FinnGen.
Released in PGS Catalog: Dec. 15, 2020

Associated Polygenic Score(s)

PGS Developed By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000335 BC_PRSCS PGP000102 Mars N et al. Nat Commun (2020) Breast cancer breast carcinoma 1,079,089 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000335/ScoringFiles/PGS000335.txt.gz

External PGS Evaluated By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000004 PRS313_BC PGP000002 Mavaddat N et al. Am J Hum Genet (2018) Breast Cancer breast carcinoma 313 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000004/ScoringFiles/PGS000004.txt.gz
PGS000332 PRS_BC PGP000100 Mars N et al. Nat Med (2020) Breast cancer breast carcinoma 6,390,808 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000332/ScoringFiles/PGS000332.txt.gz

PGS 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)
Evaluated Score 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
PPM001345 PGS000004 (PRS313_BC) PSS000450 PGP000102
Mars N et al. (2020)
Ext.
Reported Trait: Breast cancer HR: 1.55 [1.52, 1.58] 10 ancestry PCs, batch, age as time scale 260/313 variants in the PRS are polymorphic in FinnGen
PPM000903 PGS000335 (BC_PRSCS) PSS000450 PGP000102
Mars N et al. (2020)
Reported Trait: Breast cancer OR: 1.8 [1.76, 1.84] Age, 10 ancestry PCs, batch
PPM001347 PGS000004 (PRS313_BC) PSS000450 PGP000102
Mars N et al. (2020)
Ext.
Reported Trait: Breast cancer OR: 1.61 [1.57, 1.64] Age, 10 ancestry PCs, batch 260/313 variants in the PRS are polymorphic in FinnGen
PPM000902 PGS000335 (BC_PRSCS) PSS000450 PGP000102
Mars N et al. (2020)
Reported Trait: Breast cancer HR: 1.71 [1.68, 1.75] 10 ancestry PCs, batch, age as time scale
PPM001346 PGS000332 (PRS_BC) PSS000450 PGP000102
Mars N et al. (2020)
Ext.
Reported Trait: Breast cancer HR: 1.63 [1.6, 1.67] 10 ancestry PCs, batch, age as time scale
PPM001348 PGS000332 (PRS_BC) PSS000450 PGP000102
Mars N et al. (2020)
Ext.
Reported Trait: Breast cancer OR: 1.71 [1.67, 1.75] Age, 10 ancestry PCs, batch

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
PSS000450 Breast cancer cases were identified through the Finnish Cancer Registry with diagnosis C50 (International Classification of Diseases for Oncology, 3rd Edition; ICD-O-3), from the drug reimbursement registry by selecting individuals with a reimbursement code for breast cancer, and from the death registry with ICD-10 C50.
[
  • 8,401 cases
  • , 114,577 controls
]
,
0.0 % Male samples
Mean Age (At The End Of Follow-Up) = 58.5 years
Iqr = [45.1, 72.2] years
European
(Finnish)
FinnGen