Polygenic Score (PGS) ID: PGS000734

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (EFO_0005842)
Released in PGS Catalog: Feb. 23, 2021
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Score Details

Score Construction
PGS Name PRS95_CRC
Development Method
Name Genome-wide significant variants
Parameters P<5e-8
Variants
Original Genome Build GRCh37
Number of Variants 95
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000142
Citation (link to publication) Archambault AN et al. Gastroenterology (2019)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 95.8%
East Asian: 4.2%
125,478 individuals (100%)
Score Development/Training
European: 100%
108,062 individuals (100%)
PGS Evaluation
European: 100%
5 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST007856
Europe PMC: 30510241
120,184 individuals European 22 cohorts
  • CLUEII
  • ,COLON
  • ,CORSA
  • ,CPSII
  • ,CRCCS
  • ,DACHS
  • ,EDRN
  • ,EPIC
  • ,EPICOLON
  • ,HAS
  • ,HPFS
  • ,LCCS
  • ,NCCCS
  • ,NHS
  • ,NSHDS
  • ,OCCPI
  • ,OSUMC
  • ,PLCO
  • ,SELECT
  • ,SMS_AD
  • ,UKB
  • ,WHI
GWAS Catalog: GCST007856
Europe PMC: 30510241
5,294 individuals East Asian 22 cohorts
  • CLUEII
  • ,COLON
  • ,CORSA
  • ,CPSII
  • ,CRCCS
  • ,DACHS
  • ,EDRN
  • ,EPIC
  • ,EPICOLON
  • ,HAS
  • ,HPFS
  • ,LCCS
  • ,NCCCS
  • ,NHS
  • ,NSHDS
  • ,OCCPI
  • ,OSUMC
  • ,PLCO
  • ,SELECT
  • ,SMS_AD
  • ,UKB
  • ,WHI
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
[
  • 50,023 cases
  • , 58,039 controls
]
,
52.81 % Male samples
European 43 cohorts
  • ASTERISK
  • ,ATBC
  • ,CCFR
  • ,COLON
  • ,CORSA
  • ,COSM
  • ,CPSII
  • ,CRCCS
  • ,ColoCare
  • ,DACHS
  • ,DALS
  • ,EDRN
  • ,EPIC
  • ,EPICOLON
  • ,ESTHER
  • ,HPFS
  • ,Hawaiian_Colo2&3
  • ,KCCS
  • ,KIEL
  • ,LCCS
  • ,MCCS
  • ,MEC
  • ,MECC
  • ,MSKCC
  • ,NCCCS
  • ,NFCCR
  • ,NHS
  • ,NHS2
  • ,NSHDS
  • ,OCCPI
  • ,OFCCR
  • ,OSUMC
  • ,PHS
  • ,PLCO
  • ,PMH-CCFR
  • ,SEARCH
  • ,SLRCCSG
  • ,SMC
  • ,Spain
  • ,UKB
  • ,USC-HRT-CRC
  • ,VITAL
  • ,WHI

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
PPM001740 PSS000894|
European Ancestry|
26,938 individuals
PGP000142 |
Archambault AN et al. Gastroenterology (2019)
Reported Trait: Early-onset colorectal cancer HR: 1.73 [1.17, 2.56] Sex, PCs
PPM001741 PSS000893|
European Ancestry|
67,792 individuals
PGP000142 |
Archambault AN et al. Gastroenterology (2019)
Reported Trait: Late-onset colorectal cancer HR: 1.43 [1.34, 1.51] Sex, PCs
PPM001742 PSS000896|
European Ancestry|
24,472 individuals
PGP000142 |
Archambault AN et al. Gastroenterology (2019)
Reported Trait: Early-onset colorectal cancer in individuals with no family history of colorectal cancer HR: 1.76 [1.11, 2.78] Sex, PCs
PPM001743 PSS000895|
European Ancestry|
61,129 individuals
PGP000142 |
Archambault AN et al. Gastroenterology (2019)
Reported Trait: Late-onset colorectal cancer in individuals with no family history of colorectal cancer HR: 1.42 [1.33, 1.52] Sex, PCs
PPM001744 PSS000897|
European Ancestry|
6,668 individuals
PGP000142 |
Archambault AN et al. Gastroenterology (2019)
Reported Trait: Late-onset colorectal cancer in individuals with a family history of colorectal cancer HR: 1.34 [1.17, 1.54] Sex, PCs

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
PSS000893 Participants were 50 years of age or older. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection.
[
  • 1,068 cases
  • , 66,724 controls
]
Range = [50.0, 100.0] years European RPGEH
PSS000894 Participants were under 50 years of age. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection.
[
  • 25 cases
  • , 26,913 controls
]
Range = [0.0, 50.0] years European RPGEH
PSS000895 Participants were 50 years of age or older with no family history of colorectal cancer. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection.
[
  • 871 cases
  • , 60,258 controls
]
Range = [50.0, 100.0] years European RPGEH
PSS000896 Participants were under 50 years of age with no family history of colorectal cancer. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection.
[
  • 18 cases
  • , 24,454 controls
]
Range = [0.0, 50.0] years European RPGEH
PSS000897 Participants were 50 years of age or older with a history of colorectal cancer. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection.
[
  • 202 cases
  • , 6,466 controls
]
Range = [50.0, 100.0] years European RPGEH