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: 53.3%
Not Reported: 13.3%
Multi-ancestry (including European): 13.3%
  • European
  • Not Reported
African: 6.7%
Hispanic or Latin American: 6.7%
East Asian: 6.7%
15 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] — — —
PPM020902 PSS011444|
Multi-ancestry (including European)|
4,035 individuals
 PGP000601 |
Niedermaier T et al. Clin Transl Gastroenterol (2022)
|Ext.		 Reported Trait: Advanced neoplasia (colorectal cancer or advanced adenoma) — — Positive predictive value (PPV, highest PRS tertile): 39.0 [36.0, 42.0] — Intermediate (90% specificity) FIT cutoff.
PPM020901 PSS011445|
Multi-ancestry (including European)|
1,271 individuals
 PGP000601 |
Niedermaier T et al. Clin Transl Gastroenterol (2022)
|Ext.		 Reported Trait: Advanced neoplasia (colorectal cancer or advanced adenoma) — — Positive predictive value (PPV, highest PRS tertile): 37.0 [31.0, 43.0] — Intermediate (90% specificity) FIT cutoff.
PPM030703 PSS012255|
European Ancestry|
11,947 individuals
 PGP000804 |
Yang M et al. PLoS One (2023)
|Ext.		 Reported Trait: Colorectal cancer OR: 2.7 [2.27, 3.19] — — age, BMI, IMD, sex, family history, current tobacci smoking, alcohol intake frequency, household income, number of vehicles in the household, maternal smoking around birth, eductaion employment —
PPM030704 PSS012256|
European Ancestry|
10,966 individuals
 PGP000804 |
Yang M et al. PLoS One (2023)
|Ext.		 Reported Trait: Colorectal cancer (50 years or olders) OR: 2.67 [2.24, 3.2] — — age, BMI, IMD, sex, PRS, family history, current tobacco smoking, alcohol intake frequency, household income, number vehicles in the household, maternal smoking around birth, education, employment —
PPM030705 PSS012257|
European Ancestry|
981 individuals
 PGP000804 |
Yang M et al. PLoS One (2023)
|Ext.		 Reported Trait: Colorectal cancer (<50 years) OR: 2.87 [1.65, 5.0] — — age, BMI, IMD, sex, PRS, family history, current tobacco smoking, alcohol intake frequency, household income, number vehicles in the household, maternal smoking around birth, education, employment —
PPM038145 PSS013838|
European Ancestry|
3,427 individuals
 PGP000843 |
Fu R et al. Am J Gastroenterol (2024)
|Ext.		 Reported Trait: Advanced colorectal neoplasm OR: 1.56 [1.41, 1.73] — — age, sex, education, smoking status, physical activity, alcohol consumption, red and processed meat consumption, history of hormone replacement therapy, history of diabetes, use of NSAIDs, family history of CRC in a first-degree relative, history of colonoscopy, BMI —
PPM038146 PSS013839|
European Ancestry|
4,784 individuals
 PGP000843 |
Fu R et al. Am J Gastroenterol (2024)
|Ext.		 Reported Trait: Any colorectal neoplasm x BMI interaction — — Odds ratio (OR >30 BMI and high PRS vs. <25 BMI and low PRS): 2.29 [1.72, 3.06] age, sex, education, smoking status, physical activity, alcohol consumption, red and processed meat consumption, history of hormone replacement therapy, history of diabetes, use of NSAIDs, family history of CRC in a first-degree relative, and history of colonoscopy —
PPM038147 PSS013838|
European Ancestry|
3,427 individuals
 PGP000843 |
Fu R et al. Am J Gastroenterol (2024)
|Ext.		 Reported Trait: Advanced colorectal neoplasm x BMI interaction — — Odds ratio (OR >30 BMI and high PRS vs. <25 BMI and low PRS): 2.9 [1.93, 4.33] age, sex, education, smoking status, physical activity, alcohol consumption, red and processed meat consumption, history of hormone replacement therapy, history of diabetes, use of NSAIDs, family history of CRC in a first-degree relative, and history of colonoscopy —
PPM038144 PSS013839|
European Ancestry|
4,784 individuals
 PGP000843 |
Fu R et al. Am J Gastroenterol (2024)
|Ext.		 Reported Trait: Any colorectal neoplasm OR: 1.39 [1.3, 1.5] — — age, sex, education, smoking status, physical activity, alcohol consumption, red and processed meat consumption, history of hormone replacement therapy, history of diabetes, use of NSAIDs, family history of CRC in a first-degree relative, history of colonoscopy, BMI —

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 —
PSS011444 Participants were classified according to the most advanced finding at colonoscopy (CRC, AA, non-advanced adenoma, other or none of above). Fecal hemoglobin concentrations were measured using Ridascreen Haemoglobin which is based on an enzyme immunoassay (participants recruited until December 2008), and FOB Gold which is based on a latex agglutination assay (participants recruited from December 2008 on). In both groups of participants, fully automated FIT analyses were conducted, blinded with respect to colonoscopy results, using Tecan Freedom Evolyzer (Ridascreen Haemoglobin) and Abbott Architect c8000 (FOB Gold), respectively. —
[
  • 523 cases
  • , 3,512 controls
]
,
51.4 % Male samples
 Mean = 61.8 years European, Not reported — BLITZ —
PSS011445 Participants were classified according to the most advanced finding at colonoscopy (CRC, AA, non-advanced adenoma, other or none of above). Fecal hemoglobin concentrations were measured using Ridascreen Haemoglobin which is based on an enzyme immunoassay (participants recruited until December 2008), and FOB Gold which is based on a latex agglutination assay (participants recruited from December 2008 on). In both groups of participants, fully automated FIT analyses were conducted, blinded with respect to colonoscopy results, using Tecan Freedom Evolyzer (Ridascreen Haemoglobin) and Abbott Architect c8000 (FOB Gold), respectively. —
[
  • 172 cases
  • , 1,099 controls
]
,
53.5 % Male samples
 Mean = 63.1 years European, Not reported — BLITZ —
PSS009918 — — 5,306 individuals,
51.9 % Male samples
 Mean = 62.1 years European — BLITZ —
PSS011386 — — 3,025 individuals — Not reported — BLITZ —
PSS013838 — —
[
  • 867 cases
  • , 2,560 controls
]
,
48.0 % Male samples
 — European — BLITZ —
PSS013839 — —
[
  • 2,224 cases
  • , 2,560 controls
]
,
32.0 % Male samples
 — European — BLITZ —
PSS012255 — —
[
  • 2,585 cases
  • , 9,362 controls
]
 — European — UKB —
PSS012256 — —
[
  • 2,387 cases
  • , 8,579 controls
]
 — European — UKB —
PSS012257 — —
[
  • 198 cases
  • , 783 controls
]
 — European — UKB —
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 —