Polygenic Score (PGS) ID: PGS000345

Predicted Trait
Reported Trait Breast cancer
Mapped Trait(s) breast carcinoma (EFO_0000305)
Released in PGS Catalog: Dec. 8, 2020
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Terms and Licenses
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Score Details

Score Construction
PGS Name PRS229_BC
Variants
Original Genome Build GRCh37
Number of Variants 229
Development Method
Name 313 variants from Mavaddatt et al (PGS000004)
Parameters p < 10e5, Imputation accuracy >0.9 in MyBrCa and SGBCC studies, polymorphic variants
PGS Source
PGS Catalog Publication (PGP) ID PGP000112
Citation (link to publication) Ho WK et al. Nat Commun (2020)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST004988
EuropePMC: 29059683
139,274 individuals European
Score Development/Training
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
[
  • 94,075 cases
  • , 75,017 controls
]
,
0.0 % Male samples
European 68 cohorts
  • 2SISTER
  • ,ABCFS
  • ,ABCS
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BBCS
  • ,BCEES
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BCINIS
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CBCS
  • ,CCGP
  • ,CECILE
  • ,CGPS
  • ,CNIO-BCS
  • ,CPSII
  • ,CTS
  • ,DIETCOMPLYF
  • ,ESTHER
  • ,GC-HBOC
  • ,GENICA
  • ,GEPARSIXTO
  • ,GESBC
  • ,HCSC
  • ,HEBCS
  • ,HMBCS
  • ,HUOCS
  • ,KARBAC
  • ,KBCP
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MISS
  • ,MMHS
  • ,MSKCC
  • ,MTLGEBCS
  • ,NBCS
  • ,NBHS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,PKARMA
  • ,POSH
  • ,PREFACE
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SMC
  • ,SUCCESSB
  • ,SUCCESSC
  • ,SZBCS
  • ,TNBCC
  • ,UCIBCS
  • ,UKOPS
  • ,WHI
Scores were developed in PGP000002 (Mavaddat et al. AJHG [2020]) - numbers correspond to the training + validation sets for breast cancer

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)
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
PPM000984 PSS000497 PGP000112
Ho WK et al. (2020)
Reported Trait: Breast cancer OR: 1.33 [1.22, 1.45] AUROC: 0.579 PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls
PPM000982 PSS000500 PGP000112
Ho WK et al. (2020)
Reported Trait: Incident breast cancer HR: 1.49 [1.33, 1.67] C-index: 0.61 PCs (1-7), study, array,batch Standardised to SDs of PRs in European controls
PPM000983 PSS000491 PGP000112
Ho WK et al. (2020)
Reported Trait: Breast cancer OR: 1.49 [1.45, 1.52] AUROC: 0.611 PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls

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
PSS000500
[
  • 413 cases
  • , 9,842 controls
]
,
0.0 % Male samples
East Asian
(Chinese)
SCHS
PSS000491
[
  • 15,755 cases
  • , 16,483 controls
]
,
0.0 % Male samples
Asian unspecified 10 cohorts
  • ACP
  • ,HERPACC
  • ,HKBCS
  • ,KOHBRA
  • ,MyBrCA
  • ,NagBCS
  • ,SBCGS
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
PSS000497
[
  • 1,507 cases
  • , 1,212 controls
]
,
0.0 % Male samples
Asian unspecified CanBCS, LAABC, NC-BCFR