Polygenic Score (PGS) ID: PGS001776

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: Nov. 25, 2021
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Score Details

Score Construction
PGS Name PRS45_CC
Development Method
Name Independent variants associated with colorectal cancer
Parameters Simulated cohort of 2,000,000 individuals was used to select the optimal number of variants
Variants
Original Genome Build NR
Number of Variants 45
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000256
Citation (link to publication) Gafni A et al. PLoS One (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 93.7%
East Asian: 4.9%
Not Reported: 0.9%
Additional Diverse Ancestries: 0.4%
Multi-ancestry (excluding European): 0.2%
  • African
  • Hispanic or Latin American
250,737 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST001161
Europe PMC: 21761138
 6,322 individuals European CCFR, DALS, PLCO, WHI
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: GCST002512
Europe PMC: 24978480
 1,281 individuals European
(Spain)		 NR
GWAS Catalog: GCST002528
Europe PMC: 25023989
 2,976 individuals European CCFR, MECC
GWAS Catalog: GCST001792
Europe PMC: 23263487
 7,847 individuals East Asian Aichi_Con, Guangzhou, KCPS, Shanghai
GWAS Catalog: GCST000052
Europe PMC: 17618283
 2,194 individuals Not reported OFCCR
Europe PMC: 20978172
[
  • 3,891 cases
  • , 4,490 controls
]
 European DALS, PLCO, WHI
GWAS Catalog: GCST002340
Europe PMC: 24448986
 4,415 individuals East Asian Aichi_Con, Guangzhou, Shanghai
Europe PMC: 25132422
[
  • 229 cases
  • , 251 controls
]
 African American or Afro-Caribbean, Hispanic or Latin American DALS, NCI
Europe PMC: 25132422
[
  • 1,594 cases
  • , 2,106 controls
]
 European DALS, NCI
Europe PMC: 21655089
[
  • 25,450 cases
  • , 24,386 controls
]
 European 14 cohorts
  • B58C
  • ,CCFR
  • ,COGS
  • ,COIN
  • ,COIN-B
  • ,CoRGI
  • ,FCCPS
  • ,GIMS
  • ,NSCCG
  • ,QUASAR2
  • ,SEARCH
  • ,SOCCS
  • ,VICTOR
  • ,WTCCC
GWAS Catalog: GCST001787
Europe PMC: 23266556
 27,809 individuals European NR
GWAS Catalog: GCST002411
Europe PMC: 24737748
 13,443 individuals European NR
GWAS Catalog: GCST001544
Europe PMC: 22634755
 17,780 individuals European COGS, CoRGI, NSCCG, SOCCS, 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: GCST002528
Europe PMC: 25023989
 983 individuals Other CCFR, MECC
GWAS Catalog: GCST000169
Europe PMC: 18372905
 1,849 individuals European CoRGI
GWAS Catalog: GCST002919
Europe PMC: 25990418
 17,556 individuals European BBJ
GWAS Catalog: GCST000053
Europe PMC: 17618284
 1,890 individuals European CoRGI

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
PPM009239 PSS007664|
European Ancestry|
403,998 individuals
 PGP000256 |
Gafni A et al. PLoS One (2021)
 Reported Trait: Full lifetime risk of colorectal cancer β: 1.848 AUROC: 0.673 [0.664, 0.682] — Family history —
PPM009240 PSS007664|
European Ancestry|
403,998 individuals
 PGP000256 |
Gafni A et al. PLoS One (2021)
 Reported Trait: 10-year risk of colorectal cancer β: 1.088 AUROC: 0.674 [0.665, 0.683] — Family history —

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
PSS007664 Cases were individuals with (incident) invasive colorectal cancer diagnosed after a baseline assessment. Colorectal cancer was identified using linkedc cancer registry data using ICD-9 (1530–1539, 1540–1541), ICD-10 (C18–C20) codes or self-reported disease). —
[
  • 2,992 cases
  • , 401,006 controls
]
,
45.85 % Male samples
 — European — UKB —