Polygenic Score (PGS) ID: PGS002265

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: March 16, 2022
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Score Details

Score Construction
PGS Name PRS140_CRC
Development Method
Name Genome-wide significant variants
Parameters NR
Variants
Original Genome Build NR
Number of Variants 140
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000294
Citation (link to publication) Thomas M et al. Am J Hum Genet (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
120,184 individuals (100%)
PGS Evaluation
European: 37.5%
Not Reported: 25%
African: 12.5%
Hispanic or Latin American: 12.5%
East Asian: 12.5%
8 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST007856
Europe PMC: 30510241
[
  • 55,105 cases
  • , 65,079 controls
]
,
52.0 % Male samples
European 47 cohorts
  • ASTERISK
  • ,ATBC
  • ,CCFR
  • ,CLUEII
  • ,COLON
  • ,CORSA
  • ,COSM
  • ,CPSII
  • ,CRCCS
  • ,CRCGEN
  • ,ColoCare
  • ,DACHS
  • ,DALS
  • ,EDRN
  • ,EPIC
  • ,EPICOLON
  • ,ESTHER_VERDI
  • ,HAS
  • ,HPFS
  • ,Hawaiian_Colo2&3
  • ,KCCS
  • ,KIEL
  • ,LCCS
  • ,MCCS
  • ,MEC
  • ,MECC
  • ,MSKCC
  • ,NCCCS
  • ,NFCCR
  • ,NHS
  • ,NHS2
  • ,NHS_Ad
  • ,NSHDS
  • ,OFCCR
  • ,OSUMC
  • ,PHS
  • ,PLCO
  • ,PMH-CCFR
  • ,SEARCH
  • ,SELECT
  • ,SLRCCSG
  • ,SMC
  • ,SMS_AD
  • ,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
PPM013009 PSS009645|
Ancestry Not Reported|
8,405 individuals
PGP000319 |
Guo F et al. Clin Gastroenterol Hepatol (2022)
|Ext.
Reported Trait: Risk of colorectal cancer Odds ratio (OR, high vs low): 2.61 [2.33, 2.93] Age, sex, education, body mass index, participation in a health check-up, family history of colorectal cancer, smoking, ever regular use of nonsteroidal anti-inflammatory drugs, and ever regular use of hormone replacement therapy
PPM014884 PSS009918|
European Ancestry|
5,306 individuals
PGP000350 |
Niedermaier T et al. Cancer Prev Res (Phila) (2022)
|Ext.
Reported Trait: Advanced colorectal neoplasia (Ridascreen model) OR: 1.025
β: 0.02451
AUROC: 0.524 [0.499, 0.55]
PPM014885 PSS009918|
European Ancestry|
5,306 individuals
PGP000350 |
Niedermaier T et al. Cancer Prev Res (Phila) (2022)
|Ext.
Reported Trait: Advanced colorectal neoplasia (FOB Gold model) OR: 1.036
β: 0.03518
AUROC: 0.53 [0.516, 0.545]
PPM018664 PSS011059|
European Ancestry|
72,791 individuals
PGP000294 |
Thomas M et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer AUROC: 0.629 [0.613, 0.645] Hazard Ratio (HR, top 30% of PGS vs. remainder): 1.92 [1.75, 2.23] age, sex
PPM018665 PSS011058|
East Asian Ancestry|
6,966 individuals
PGP000294 |
Thomas M et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer AUROC: 0.591 [0.536, 0.625] age, sex
PPM018666 PSS011060|
Hispanic or Latin American Ancestry|
6,660 individuals
PGP000294 |
Thomas M et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer AUROC: 0.592 [0.531, 0.652] age, sex
PPM018667 PSS011057|
African Ancestry|
5,249 individuals
PGP000294 |
Thomas M et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer AUROC: 0.581 [0.5, 0.645] age, sex
PPM018668 PSS011061|
European Ancestry|
38,214 individuals
PGP000294 |
Thomas M et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer AUROC: 0.591 age, sex
PPM020729 PSS011386|
Ancestry Not Reported|
3,025 individuals
PGP000573 |
Niedermaier T et al. Cancer Commun (Lond) (2023)
|Ext.
Reported Trait: Colorectal cancer AUROC: 0.615 [0.529, 0.7]
PPM020730 PSS011386|
Ancestry Not Reported|
3,025 individuals
PGP000573 |
Niedermaier T et al. Cancer Commun (Lond) (2023)
|Ext.
Reported Trait: Advanced adenoma AUROC: 0.589 [0.562, 0.616]
PPM020731 PSS011386|
Ancestry Not Reported|
3,025 individuals
PGP000573 |
Niedermaier T et al. Cancer Commun (Lond) (2023)
|Ext.
Reported Trait: Non-advanced adenoma AUROC: 0.555 [0.534, 0.576]
PPM020732 PSS011386|
Ancestry Not Reported|
3,025 individuals
PGP000573 |
Niedermaier T et al. Cancer Commun (Lond) (2023)
|Ext.
Reported Trait: Any advanced neoplasms AUROC: 0.591 [0.564, 0.617]
PPM020733 PSS011386|
Ancestry Not Reported|
3,025 individuals
PGP000573 |
Niedermaier T et al. Cancer Commun (Lond) (2023)
|Ext.
Reported Trait: Any advanced neoplasms (50 - 59 years) AUROC: 0.586 [0.544, 0.628]
PPM020734 PSS011386|
Ancestry Not Reported|
3,025 individuals
PGP000573 |
Niedermaier T et al. Cancer Commun (Lond) (2023)
|Ext.
Reported Trait: Any advanced neoplasms (60 - 79 years) AUROC: 0.597 [0.563, 0.631]
PPM020735 PSS011386|
Ancestry Not Reported|
3,025 individuals
PGP000573 |
Niedermaier T et al. Cancer Commun (Lond) (2023)
|Ext.
Reported Trait: Any advanced neoplasms (men) AUROC: 0.593 [0.558, 0.629]
PPM020736 PSS011386|
Ancestry Not Reported|
3,025 individuals
PGP000573 |
Niedermaier T et al. Cancer Commun (Lond) (2023)
|Ext.
Reported Trait: Any advanced neoplasms (women) AUROC: 0.593 [0.553, 0.633]
PPM020737 PSS011386|
Ancestry Not Reported|
3,025 individuals
PGP000573 |
Niedermaier T et al. Cancer Commun (Lond) (2023)
|Ext.
Reported Trait: Any advanced neoplasms (family history) AUROC: 0.555 [0.471 - 0.639
PPM020738 PSS011386|
Ancestry Not Reported|
3,025 individuals
PGP000573 |
Niedermaier T et al. Cancer Commun (Lond) (2023)
|Ext.
Reported Trait: Any advanced neoplasms (non family history) AUROC: 0.599 [0.57, 0.627]
PPM020739 PSS011386|
Ancestry Not Reported|
3,025 individuals
PGP000573 |
Niedermaier T et al. Cancer Commun (Lond) (2023)
|Ext.
Reported Trait: Any advanced neoplasms (previous colonoscopy) AUROC: 0.607 [0.551, 0.663]
PPM020740 PSS011386|
Ancestry Not Reported|
3,025 individuals
PGP000573 |
Niedermaier T et al. Cancer Commun (Lond) (2023)
|Ext.
Reported Trait: Any advanced neoplasms (no previous colonoscopy) AUROC: 0.585 [0.555, 0.616]

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
PSS009645
[
  • 4,696 cases
  • , 3,709 controls
]
Not reported DACHS
PSS009918 5,306 individuals,
51.9 % Male samples
Mean = 62.1 years European BLITZ
PSS011386 3,025 individuals Not reported BLITZ
PSS011057
[
  • 56 cases
  • , 5,193 controls
]
,
65.5 % Male samples
Mean = 61.6 years
Range = [20.0, 90.0] years
African American or Afro-Caribbean
(African American)
GERA
PSS011058
[
  • 96 cases
  • , 6,870 controls
]
,
42.1 % Male samples
Mean = 55.8 years
Range = [20.0, 90.0] years
East Asian GERA
PSS011059
[
  • 1,311 cases
  • , 71,480 controls
]
,
41.6 % Male samples
Mean = 62.3 years
Range = [20.0, 90.0] years
European GERA
PSS011060
[
  • 70 cases
  • , 6,590 controls
]
,
38.7 % Male samples
Mean = 55.0 years
Range = [20.0, 90.0] years
Hispanic or Latin American GERA
PSS011061 The colorectal cancer case subjects were defined as those who had at least two ICD9/10 codes for CRC. Control sub- jects had zero ICD9/10 codes for CRC. Participants with a single ICD9/10 code for CRC were excluded from analysis.
[
  • 573 cases
  • , 37,641 controls
]
European eMERGE