Polygenic Score (PGS) ID: PGS002252

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: Jan. 24, 2022
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Score Details

Score Construction
PGS Name PRS_CRC
Development Method
Name Genome-wide significant variants
Parameters p < 5E-08
Variants
Original Genome Build NR
Number of Variants 141
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000279
Citation (link to publication) Archambault AN et al. J Natl Cancer Inst (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 80.5%
East Asian: 18.5%
African: 1%
658,218 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 21655089
[
  • 24,910 cases
  • , 26,275 controls
]
 European
(White)		 7 cohorts
  • CCFR
  • ,COGS
  • ,CoRGI
  • ,NSCCG
  • ,QUASAR2
  • ,SOCCS
  • ,VICTOR
GWAS Catalog: GCST001544
Europe PMC: 22634755
 17,780 individuals European COGS, CoRGI, NSCCG, SOCCS, VICTOR
GWAS Catalog: GCST003799
Europe PMC: 26965516
 21,096 individuals East Asian BBJ, Guangzhou, KCPS, Shanghai
GWAS Catalog: GCST002454
Europe PMC: 24836286
 8,270 individuals East Asian Aichi_Con, Guangzhou, KCPS, Shanghai
GWAS Catalog: GCST003494
Europe PMC: 27145994
 2,329 individuals East Asian NJ_Study
Europe PMC: 27005424
[
  • 13,656 cases
  • , 21,667 controls
]
 European 9 cohorts
  • CCFR-II
  • ,COGS
  • ,COIN
  • ,CoRGI
  • ,FINRISK
  • ,FTC
  • ,HBCS
  • ,QUASAR2
  • ,VICTOR
GWAS Catalog: GCST002561
Europe PMC: 25105248
 6,424 individuals East Asian CAGE-Fukuoka, CCFR, JPHC, MEC, NCCS
GWAS Catalog: GCST002561
Europe PMC: 25105248
 6,596 individuals African American or Afro-Caribbean CAGE-Fukuoka, CCFR, JPHC, MEC, NCCS
GWAS Catalog: GCST007552
Europe PMC: 30529582
 70,506 individuals East Asian 8 cohorts
  • Aichi
  • ,BBJ
  • ,Guangzhou
  • ,HCES-CRC
  • ,KCPS
  • ,Korea-NCC
  • ,Korea-Seoul
  • ,Shanghai
GWAS Catalog: GCST007992
Europe PMC: 31089142
 92,967 individuals European 6 cohorts
  • GS:SFHS
  • ,LBC
  • ,NSCCG
  • ,SCOT
  • ,SOCCS
  • ,UKB
GWAS Catalog: GCST006131
Europe PMC: 29917119
 67,812 individuals European NR
GWAS Catalog: GCST007856
Europe PMC: 30510241
 5,294 individuals East Asian NR
GWAS Catalog: GCST007856
Europe PMC: 30510241
 120,184 individuals European NR
GWAS Catalog: GCST001787
Europe PMC: 23266556
 27,809 individuals European NR
GWAS Catalog: GCST002411
Europe PMC: 24737748
 13,443 individuals European NR
GWAS Catalog: GCST000843
Europe PMC: 20972440
 7,962 individuals European 11 cohorts
  • B58C
  • ,COGS
  • ,COIN
  • ,COIN-B
  • ,CoRGI
  • ,FCCPS
  • ,NSCCG
  • ,SEARCH
  • ,SOCCS
  • ,UKBS
  • ,VICTOR
GWAS Catalog: GCST000843
Europe PMC: 20972440
 30,420 individuals European 11 cohorts
  • B58C
  • ,COGS
  • ,COIN
  • ,COIN-B
  • ,CoRGI
  • ,FCCPS
  • ,NSCCG
  • ,SEARCH
  • ,SOCCS
  • ,UKBS
  • ,VICTOR
GWAS Catalog: GCST000270
Europe PMC: 19011631
 3,831 individuals European COGS, CoRGI
GWAS Catalog: GCST003017
Europe PMC: 26151821
 37,955 individuals European 20 cohorts
  • ACS
  • ,ASTERISK
  • ,CCFR
  • ,CCFR-II
  • ,DACHS
  • ,DALS
  • ,HPFS
  • ,Hawaiian_Colo2&3
  • ,KCCS
  • ,MEC
  • ,MECC
  • ,NFCCR
  • ,NHS
  • ,NHS_Ad
  • ,OFCCR
  • ,PHS
  • ,PLCO
  • ,PMH
  • ,VITAL
  • ,WHI
GWAS Catalog: GCST000113
Europe PMC: 17934461
 1,890 individuals European CoRGI
GWAS Catalog: GCST000169
Europe PMC: 18372905
 1,849 individuals European CoRGI
GWAS Catalog: GCST001792
Europe PMC: 23263487
 7,847 individuals East Asian Aichi_Con, Guangzhou, KCPS, Shanghai
GWAS Catalog: GCST000053
Europe PMC: 17618284
 1,890 individuals European CoRGI
GWAS Catalog: GCST002919
Europe PMC: 25990418
 17,556 individuals European BBJ

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) 		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
PPM012805 PSS009566|
European Ancestry|
7,376 individuals
 PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
 Reported Trait: Early-onset colorectal cancer OR: 1.59 [1.51, 1.68] AUROC: 0.628 [0.613, 0.644] — Age, sex, genotype platform, family history, principal components —
PPM012806 PSS009566|
European Ancestry|
7,376 individuals
 PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
 Reported Trait: Early-onset colorectal cancer (men) — AUROC: 0.61 [0.592, 0.651] — Age, family history, genotype platform, principal components —
PPM012807 PSS009566|
European Ancestry|
7,376 individuals
 PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
 Reported Trait: Early-onset colorectal cancer (women) — AUROC: 0.633 [0.612, 0.655] — Age, family history, genotype platform, principal components —
PPM012808 PSS009566|
European Ancestry|
7,376 individuals
 PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
 Reported Trait: Proximal colon cancer OR: 1.38 [1.27, 1.5] AUROC: 0.592 [0.554, 0.63] — Age, family history, genotype platform, principal components —
PPM012809 PSS009566|
European Ancestry|
7,376 individuals
 PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
 Reported Trait: Distal colon cancer OR: 1.73 [1.6, 1.87] AUROC: 0.643 [0.614, 0.671] — Age, family history, genotype platform, principal components —
PPM012810 PSS009566|
European Ancestry|
7,376 individuals
 PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
 Reported Trait: Rectal cancer OR: 1.67 [1.55, 1.8] AUROC: 0.654 [0.63, 0.68] — Age, family history, genotype platform, principal components —

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
PSS009566 — —
[
  • 3,486 cases
  • , 3,890 controls
]
 Maximum = 50.0 years European — 9 cohorts
  • CCFR
  • ,DACHS
  • ,DALS
  • ,EPIC
  • ,MECC
  • ,NCCCS
  • ,NFCCR
  • ,NHS
  • ,UKB
 CRCGEN, Kentucky, LCCS