PGS Publication: PGP000553

Publication Information (EuropePMC)
Title Prediction of breast cancer risk for sisters of women attending screening.
PubMed ID 37243694(Europe PMC)
doi 10.1093/jnci/djad101
Publication Date Nov. 1, 2023
Journal J Natl Cancer Inst
Author(s) Mao X, He W, Eriksson M, Lindström LS, Holowko N, Bajalica-Lagercrantz S, Hammarström M, Grassmann F, Humphreys K, Easton D, Hall P, Czene K.
Released in PGS Catalog: Jan. 11, 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
List of ancestries includes:
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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)
PGS000004
(PRS313_BC)
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
 Breast cancer breast carcinoma 313
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000004/ScoringFiles/PGS000004.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
PPM020422 PGS000004
(PRS313_BC)
 PSS011356|
European Ancestry|
17,835 individuals
 PGP000553 |
Mao X et al. J Natl Cancer Inst (2023)
|Ext.		 Reported Trait: Incident breast cancer in women aged 40-54 years at study enrolment HR: 1.68 [1.52, 1.84] — — Age, genotyping method —
PPM020423 PGS000004
(PRS313_BC)
 PSS011356|
European Ancestry|
17,835 individuals
 PGP000553 |
Mao X et al. J Natl Cancer Inst (2023)
|Ext.		 Reported Trait: Incident breast cancer in women aged 55-74 years at study enrolment HR: 1.53 [1.42, 1.65] — — Age, genotyping method —
PPM020424 PGS000004
(PRS313_BC)
 PSS011356|
European Ancestry|
17,835 individuals
 PGP000553 |
Mao X et al. J Natl Cancer Inst (2023)
|Ext.		 Reported Trait: Incident breast cancer in full sisters of women aged 40-54 years at study enrolment HR: 1.27 [1.04, 1.55] — — Age, genotyping method —
PPM020425 PGS000004
(PRS313_BC)
 PSS011356|
European Ancestry|
17,835 individuals
 PGP000553 |
Mao X et al. J Natl Cancer Inst (2023)
|Ext.		 Reported Trait: Incident breast cancer in full sisters of women aged 55-74 years at study enrolment HR: 1.24 [1.07, 1.44] — — Age, genotyping method —

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
PSS011356 — — 17,835 individuals,
0.0 % Male samples
 — European — KARMA —