PGS Publication: PGP000644

Publication Information (EuropePMC)
Title Genetic Factors, Adherence to Healthy Lifestyle Behavior, and Risk of Invasive Breast Cancer Among Women in the UK Biobank.
PubMed ID 31899501(Europe PMC)
doi 10.1093/jnci/djz241
Publication Date Sept. 1, 2020
Journal J Natl Cancer Inst
Author(s) Arthur RS, Wang T, Xue X, Kamensky V, Rohan TE.
Released in PGS Catalog: June 12, 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)
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
PPM021373 PGS000004
(PRS313_BC)
PSS011707|
European Ancestry|
110,869 individuals
PGP000644 |
Arthur RS et al. J Natl Cancer Inst (2020)
|Ext.
Reported Trait: Incident breast cancer in postmenopausal women HR: 2.03 [1.91, 2.16] Hazard ratio (HR, top PRS tertile vs. bottom PRS tertile): 2.51 [2.27, 2.77] Age at recruitment, socioeconomic status, age at menarche, parity and age at first pregnancy (combined), family history of breast cancer, history of mammograms, oral contraceptive use, age at menopause, hormone replacement therapy use, 5 PCs, genotyping batch, lifestyle score Only 304 of the 313 SNPs were available for analysis
PPM021372 PGS000004
(PRS313_BC)
PSS011708|
European Ancestry|
35,457 individuals
PGP000644 |
Arthur RS et al. J Natl Cancer Inst (2020)
|Ext.
Reported Trait: Incident breast cancer in premenopausal women HR: 2.14 [1.89, 2.42] Hazard ratio (HR, top PRS tertile vs. bottom PRS tertile): 2.64 [2.17, 3.22] Age at recruitment, socioeconomic status, age at menarche, parity and age at first pregnancy (combined), family history of breast cancer, history of mammograms, oral contraceptive use, BMI, 5 PCs, genotyping batch, lifestyle score Only 304 of the 313 SNPs were available for analysis

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
PSS011707 Cases are those of incident breast cancer. In UK Biobank, cancer diagnoses were ascertained through linkage to national cancer registries in England, Wales, and Scotland. Invasive breast cancer was coded using the 10th Revision of the International Classification of Diseases. Death was ascertained via linkage to death registries.
[
  • 2,716 cases
  • , 108,153 controls
]
,
0.0 % Male samples
European UKB
PSS011708 Cases are those of incident breast cancer. In UK Biobank, cancer diagnoses were ascertained through linkage to national cancer registries in England, Wales, and Scotland. Invasive breast cancer was coded using the 10th Revision of the International Classification of Diseases. Death was ascertained via linkage to death registries.
[
  • 706 cases
  • , 34,751 controls
]
,
0.0 % Male samples
European UKB