PGS Publication: PGP000297

Publication Information (EuropePMC)
Title Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries.
PubMed ID 34999890(Europe PMC)
doi 10.1093/ije/dyab036
Publication Date Jan. 1, 2022
Journal Int J Epidemiol
Author(s) Hurson AN, Pal Choudhury P, Gao C, Hüsing A, Eriksson M, Shi M, Jones ME, Evans DGR, Milne RL, Gaudet MM, Vachon CM, Chasman DI, Easton DF, Schmidt MK, Kraft P, Garcia-Closas M, Chatterjee N, B-CAST Risk Modelling Group.
Released in PGS Catalog: April 1, 2022

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
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)
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
PPM012909 PGS000004
(PRS313_BC)
 PSS009609|
European Ancestry|
54,949 individuals
 PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.		 Reported Trait: Incident primary breast cancer — AUROC: 0.631 [0.61, 0.651] Calibration (E/O): 0.9 [0.7, 1.0] — —
PPM012910 PGS000004
(PRS313_BC)
 PSS009610|
European Ancestry|
238,663 individuals
 PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.		 Reported Trait: Incident primary breast cancer — AUROC: 0.622 [0.614, 0.63] Calibration (E/O): 1.0 [0.7, 1.3] — —
PPM012912 PGS000004
(PRS313_BC)
 PSS009610|
European Ancestry|
238,663 individuals
 PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.		 Reported Trait: Incident primary breast cancer — AUROC: 0.64 [0.632, 0.647] — iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) —
PPM012913 PGS000004
(PRS313_BC)
 PSS009611|
European Ancestry|
302,425 individuals
 PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.		 Reported Trait: 5-year absolute risk breast cancer (>3%) — AUROC: 0.668 — iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) —
PPM012914 PGS000004
(PRS313_BC)
 PSS009612|
European Ancestry|
840,867 individuals
 PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.		 Reported Trait: 5-year absolute risk breast cancer (>3%) — AUROC: 0.664 — iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) —
PPM012915 PGS000004
(PRS313_BC)
 PSS009613|
European Ancestry|
408,679 individuals
 PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.		 Reported Trait: 5-year absolute risk breast cancer (>3%) — AUROC: 0.666 — iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) —
PPM012916 PGS000004
(PRS313_BC)
 PSS009614|
European Ancestry|
188,453 individuals
 PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.		 Reported Trait: 5-year absolute risk breast cancer (>3%) — AUROC: 0.661 — iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) —
PPM012917 PGS000004
(PRS313_BC)
 PSS009615|
European Ancestry|
1,401,091 individuals
 PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.		 Reported Trait: 5-year absolute risk breast cancer (>3%) — AUROC: 0.664 — iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) —
PPM012918 PGS000004
(PRS313_BC)
 PSS009616|
European Ancestry|
5,328,392 individuals
 PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.		 Reported Trait: 5-year absolute risk breast cancer (>3%) — AUROC: 0.665 — iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) —
PPM012911 PGS000004
(PRS313_BC)
 PSS009609|
European Ancestry|
54,949 individuals
 PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.		 Reported Trait: Incident primary breast cancer — AUROC: 0.64 [0.62, 0.66] — iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) —

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
PSS009609 — —
[
  • 891 cases
  • , 54,058 controls
]
,
0.0 % Male samples
 Range = [0.0, 50.0] years European — NHS2, UKB GS
PSS009610 — —
[
  • 5,920 cases
  • , 232,743 controls
]
,
0.0 % Male samples
 Range = [50.0, 100.0] years European — 9 cohorts
  • CPSII
  • ,EPIC
  • ,KARMA
  • ,MMHS
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,UKB
  • ,WGHS
 GS
PSS009611 — — 302,425 individuals,
0.0 % Male samples
 Range = [50.0, 70.0] years European — MCCS —
PSS009612 — — 840,867 individuals,
0.0 % Male samples
 Range = [50.0, 70.0] years European — EPIC —
PSS009613 — — 408,679 individuals,
0.0 % Male samples
 Range = [50.0, 70.0] years European — EPIC —
PSS009614 — — 188,453 individuals,
0.0 % Male samples
 Range = [50.0, 70.0] years European — KARMA —
PSS009615 — — 1,401,091 individuals,
0.0 % Male samples
 Range = [50.0, 70.0] years European — EPIC, PROCAS, UKB —
PSS009616 — — 5,328,392 individuals,
0.0 % Male samples
 Range = [50.0, 70.0] years European — 7 cohorts
  • CPSII
  • ,MMHS
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,SISTER
  • ,WGHS
 GS