Trait: colorectal carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_1001951
Description A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. [NCIT: C2955]
Trait categories
Cancer
Digestive system disorder
Synonyms 26 synonyms
  • CRC
  • cancer of large bowel
  • cancer of large bowel
  • cancer of large intestine
  • cancer of large intestine
  • cancer of the large bowel
  • cancer of the large bowel
  • cancer of the large intestine
  • cancer of the large intestine
  • carcinoma of colorectum
  • carcinoma of large bowel
  • carcinoma of large intestine
  • carcinoma of the large bowel
  • carcinoma of the large intestine
  • colorectal (colon or rectal) cancer
  • colorectal (colon or rectal) cancer
  • colorectal cancer
  • colorectal cancer
  • colorectal carcinoma
  • colorectum carcinoma
  • large bowel cancer
  • large bowel cancer
  • large bowel carcinoma
  • large intestine cancer
  • large intestine cancer
  • large intestine carcinoma
Mapped terms 6 mapped terms
  • DOID:0080199
  • MEDGEN:3170
  • MONDO:0024331
  • NCIT:C2955
  • UMLS:C0009402
  • UMLS:CN221574
Child trait(s) colon carcinoma

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "colorectal carcinoma" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000376
(PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 1,111,490
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000376/ScoringFiles/PGS000376.txt.gz
PGS000377
(PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 5,740,814
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000377/ScoringFiles/PGS000377.txt.gz
PGS000378
(PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 1,111,399
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000378/ScoringFiles/PGS000378.txt.gz
PGS000379
(PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 5,715,093
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000379/ScoringFiles/PGS000379.txt.gz
PGS000380
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 1,119,238
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000380/ScoringFiles/PGS000380.txt.gz
PGS000381
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 12
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000381/ScoringFiles/PGS000381.txt.gz
PGS000382
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 150
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000382/ScoringFiles/PGS000382.txt.gz
PGS003386
(best_COADREAD)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Colorectal cancer colorectal carcinoma 61
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003386/ScoringFiles/PGS003386.txt.gz
PGS003739
(PRS81_CoC)
 PGP000470 |
Xin J et al. EBioMedicine (2023)
 Colorectal cancer colorectal carcinoma 81
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003739/ScoringFiles/PGS003739.txt.gz
PGS003979
(CRC_PRSCS)
 PGP000515 |
Tamlander M et al. Br J Cancer (2023)
 Colorectal cancer colorectal carcinoma 1,088,133
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003979/ScoringFiles/PGS003979.txt.gz
PGS004240
(PRS89_CRC)
 PGP000541 |
Fan L et al. Int J Cancer (2023)
 Colorectal cancer colorectal carcinoma 89
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004240/ScoringFiles/PGS004240.txt.gz
PGS004243
(PRS67_colorectum)
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Colorectal cancer colorectal carcinoma 67
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004243/ScoringFiles/PGS004243.txt.gz
PGS004300
(GenoBoost_colorectal_cancer_0)
 PGP000546 |
Ohta R et al. Nat Commun (2024)
 Colorectal cancer colorectal carcinoma 70
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004300/ScoringFiles/PGS004300.txt.gz
PGS004301
(GenoBoost_colorectal_cancer_1)
 PGP000546 |
Ohta R et al. Nat Commun (2024)
 Colorectal cancer colorectal carcinoma 600
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004301/ScoringFiles/PGS004301.txt.gz
PGS004302
(GenoBoost_colorectal_cancer_2)
 PGP000546 |
Ohta R et al. Nat Commun (2024)
 Colorectal cancer colorectal carcinoma 300
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004302/ScoringFiles/PGS004302.txt.gz
PGS004303
(GenoBoost_colorectal_cancer_3)
 PGP000546 |
Ohta R et al. Nat Commun (2024)
 Colorectal cancer colorectal carcinoma 200
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004303/ScoringFiles/PGS004303.txt.gz
PGS004304
(GenoBoost_colorectal_cancer_4)
 PGP000546 |
Ohta R et al. Nat Commun (2024)
 Colorectal cancer colorectal carcinoma 700
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004304/ScoringFiles/PGS004304.txt.gz
PGS004445
(disease.D12.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 D12 (Benign neoplasm of colon, rectum, anus and anal canal) colorectal carcinoma 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004445/ScoringFiles/PGS004445.txt.gz
PGS004515
(meta.D12.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 D12 (Benign neoplasm of colon, rectum, anus and anal canal) colorectal carcinoma 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004515/ScoringFiles/PGS004515.txt.gz
PGS004580
(CRC_PRSCS)
 PGP000562 |
Youssef O et al. Lab Invest (2024)
 Colorectal cancer colorectal carcinoma 1,099,906
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004580/ScoringFiles/PGS004580.txt.gz
PGS004586
(PPS_CRC)
 PGP000564 |
Xin J et al. Nat Commun (2024)
 Colorectal cancer colorectal carcinoma 287
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004586/ScoringFiles/PGS004586.txt.gz
PGS004689
(colorectal_cancer)
 PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
 Colorectal cancer colorectal carcinoma 1,077,789
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004689/ScoringFiles/PGS004689.txt.gz
PGS004880
(INTERVENE_MegaPRS_Colorectal_cancer)
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Colorectal cancer colorectal carcinoma 843,248
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004880/ScoringFiles/PGS004880.txt.gz
PGS004904
(PRS127_CRC)
 PGP000636 |
Jiang F et al. Int J Cancer (2023)
 Colorectal cancer colorectal carcinoma 127
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004904/ScoringFiles/PGS004904.txt.gz
PGS004912
(PRS183)
 PGP000643 |
Tian J et al. Genome Med (2024)
 Colorectal neoplasm colorectal carcinoma 183
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004912/ScoringFiles/PGS004912.txt.gz

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) 		Evaluated Score 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
PPM001061 PGS000376
(PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.177 [1.069, 1.297]
β: 0.163 (0.0491)		 AUROC: 0.547 [0.518, 0.576] Nagelkerke's Pseudo-R²: 0.0046
Brier score: 0.0832
Odds Ratio (OR, top 1% vs. Rest): 1.65 [0.753, 3.61]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608
PPM001062 PGS000377
(PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.174 [1.066, 1.292]
β: 0.16 (0.049)		 AUROC: 0.545 [0.518, 0.574] Nagelkerke's Pseudo-R²: 0.00441
Brier score: 0.0831
Odds Ratio (OR, top 1% vs. Rest): 1.4 [0.607, 3.22]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608
PPM001063 PGS000378
(PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.141 [1.038, 1.254]
β: 0.132 (0.0484)		 AUROC: 0.536 [0.509, 0.565] Nagelkerke's Pseudo-R²: 0.00301
Brier score: 0.0832
Odds Ratio (OR, top 1% vs. Rest): 1.82 [0.867, 3.84]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608
PPM001064 PGS000379
(PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.143 [1.038, 1.258]
β: 0.134 (0.049)		 AUROC: 0.536 [0.51, 0.567] Nagelkerke's Pseudo-R²: 0.00302
Brier score: 0.0832
Odds Ratio (OR, top 1% vs. Rest): 0.757 [0.252, 2.28]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608
PPM001065 PGS000380
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.324 [1.203, 1.457]
β: 0.281 (0.0489)		 AUROC: 0.569 [0.539, 0.599] Nagelkerke's Pseudo-R²: 0.0138
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 3.85 [2.19, 6.77]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608
PPM001066 PGS000381
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.212 [1.105, 1.33]
β: 0.193 (0.0472)		 AUROC: 0.55 [0.522, 0.577] Nagelkerke's Pseudo-R²: 0.00703
Brier score: 0.0831
Odds Ratio (OR, top 1% vs. Rest): 1.6 [0.733, 3.51]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608
PPM001067 PGS000382
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.247 [1.134, 1.371]
β: 0.221 (0.0483)		 AUROC: 0.567 [0.54, 0.594] Nagelkerke's Pseudo-R²: 0.00899
Brier score: 0.083
Odds Ratio (OR, top 1% vs. Rest): 1.17 [0.477, 2.87]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608
PPM016261 PGS003386
(best_COADREAD)
 PSS010076|
European Ancestry|
274,069 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: colorectal cancer — AUROC: 0.724 R²: 0.0115 age, sex, top 20 genetic principal components —
PPM018495 PGS003739
(PRS81_CoC)
 PSS010988|
European Ancestry|
470 individuals
 PGP000470 |
Xin J et al. EBioMedicine (2023)
 Reported Trait: Colorectal cancer OR: 1.37 [1.24, 1.51] — — — —
PPM019147 PGS003979
(CRC_PRSCS)
 PSS011211|
European Ancestry|
453,733 individuals
 PGP000515 |
Tamlander M et al. Br J Cancer (2023)
 Reported Trait: Colorectal cancer OR: 1.63 [1.6, 1.67] AUROC: 0.795 [0.791, 0.799] — year of birth, sex, ten first principal components of ancestry, genotyping batch, genotyping array —
PPM020292 PGS004240
(PRS89_CRC)
 PSS011326|
Multi-ancestry (including European)|
3,809 individuals
 PGP000541 |
Fan L et al. Int J Cancer (2023)
 Reported Trait: Colorectal cancer — — Hazard ratio (HR, high vs low PRS tertile): 2.51 [2.04, 3.09] Age, sex, red meat intake, BMI, family history of CRC, smoking status, alcohol intake, townsend deprivation index, race, education (College or University degree, vocational qualifications, optional national exams at ages 17 to 18 years, national exams at age 16 years, none of the above, unknown), other common diseases (hypertension, heart diseases, diabetes) —
PPM020293 PGS004240
(PRS89_CRC)
 PSS011327|
Multi-ancestry (including European)|
125,021 individuals
 PGP000541 |
Fan L et al. Int J Cancer (2023)
 Reported Trait: Colorectal cancer — — Hazard ratio (HR, high vs low PRS tertile): 2.48 [2.11, 2.91] Age, sex, red meat intake, BMI, family history of CRC, smoking status, alcohol intake, townsend deprivation index, race, education (College or University degree, vocational qualifications, optional national exams at ages 17 to 18 years, national exams at age 16 years, none of the above, unknown), other common diseases (hypertension, heart diseases, diabetes) —
PPM020294 PGS004240
(PRS89_CRC)
 PSS011327|
Multi-ancestry (including European)|
125,021 individuals
 PGP000541 |
Fan L et al. Int J Cancer (2023)
 Reported Trait: Colorectal cancer x Saturated fatty acids interaction HR: 1.14 [1.11, 1.18] — — Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes) —
PPM020295 PGS004240
(PRS89_CRC)
 PSS011326|
Multi-ancestry (including European)|
3,809 individuals
 PGP000541 |
Fan L et al. Int J Cancer (2023)
 Reported Trait: Colorectal cancer x Saturated fatty acids interaction HR: 1.17 [1.12, 1.22] — — Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes) —
PPM020296 PGS004240
(PRS89_CRC)
 PSS011327|
Multi-ancestry (including European)|
125,021 individuals
 PGP000541 |
Fan L et al. Int J Cancer (2023)
 Reported Trait: Colorectal cancer (with saturated fatty acid and clinical risk factors) — AUROC: 0.734 [0.72, 0.749] — Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes) —
PPM020297 PGS004240
(PRS89_CRC)
 PSS011326|
Multi-ancestry (including European)|
3,809 individuals
 PGP000541 |
Fan L et al. Int J Cancer (2023)
 Reported Trait: Colorectal cancer (with saturated fatty acid and clinical risk factors) — AUROC: 0.662 [0.64, 0.683] — Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes) —
PPM020300 PGS004243
(PRS67_colorectum)
 PSS011328|
European Ancestry|
133,830 individuals
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Reported Trait: Colorectal cancer HR: 1.49 [1.39, 1.61] — — first 10 genetic principal components —
PPM020309 PGS004243
(PRS67_colorectum)
 PSS011329|
European Ancestry|
115,207 individuals
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Reported Trait: Colorectal cancer HR: 1.51 [1.42, 1.61] — — first 10 genetic principal components —
PPM020368 PGS004300
(GenoBoost_colorectal_cancer_0)
 PSS011340|
European Ancestry|
67,428 individuals
 PGP000546 |
Ohta R et al. Nat Commun (2024)
 Reported Trait: Colorectal cancer — AUROC: 0.66861 Covariate-adjusted pseudo-R2: 0.00382
AUPRC: 0.66861		 age, sex, PC1-10 —
PPM020369 PGS004301
(GenoBoost_colorectal_cancer_1)
 PSS011340|
European Ancestry|
67,428 individuals
 PGP000546 |
Ohta R et al. Nat Commun (2024)
 Reported Trait: Colorectal cancer — AUROC: 0.66747 Covariate-adjusted pseudo-R2: 0.0036
AUPRC: 0.66747		 age, sex, PC1-10 —
PPM020370 PGS004302
(GenoBoost_colorectal_cancer_2)
 PSS011340|
European Ancestry|
67,428 individuals
 PGP000546 |
Ohta R et al. Nat Commun (2024)
 Reported Trait: Colorectal cancer — AUROC: 0.66658 Covariate-adjusted pseudo-R2: 0.00253
AUPRC: 0.66658		 age, sex, PC1-10 —
PPM020371 PGS004303
(GenoBoost_colorectal_cancer_3)
 PSS011340|
European Ancestry|
67,428 individuals
 PGP000546 |
Ohta R et al. Nat Commun (2024)
 Reported Trait: Colorectal cancer — AUROC: 0.66945 Covariate-adjusted pseudo-R2: 0.00423
AUPRC: 0.66945		 age, sex, PC1-10 —
PPM020372 PGS004304
(GenoBoost_colorectal_cancer_4)
 PSS011340|
European Ancestry|
67,428 individuals
 PGP000546 |
Ohta R et al. Nat Commun (2024)
 Reported Trait: Colorectal cancer — AUROC: 0.66807 Covariate-adjusted pseudo-R2: 0.00325
AUPRC: 0.66807		 age, sex, PC1-10 —
PPM020560 PGS004445
(disease.D12.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: D12 (Benign neoplasm of colon, rectum, anus and anal canal) OR: 1.19821 — — — —
PPM020630 PGS004515
(meta.D12.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: D12 (Benign neoplasm of colon, rectum, anus and anal canal) OR: 1.20806 — — — —
PPM020695 PGS004580
(CRC_PRSCS)
 PSS011366|
European Ancestry|
342,499 individuals
 PGP000562 |
Youssef O et al. Lab Invest (2024)
 Reported Trait: Colorectal cancer OR: 1.5 [1.46, 1.55] — — — —
PPM020702 PGS004586
(PPS_CRC)
 PSS011374|
East Asian Ancestry|
543 individuals
 PGP000564 |
Xin J et al. Nat Commun (2024)
 Reported Trait: Overall survival of colorectal cancer HR: 1.9 [1.61, 2.24] AUROC: 0.649 — sex, age, smoking status, drinking status and top 10 principal components —
PPM020701 PGS004586
(PPS_CRC)
 PSS011373|
European Ancestry|
470 individuals
 PGP000564 |
Xin J et al. Nat Commun (2024)
 Reported Trait: Overall survival of colorectal cancer HR: 1.99 [1.57, 2.52] AUROC: 0.652 — sex, age, stage and top 10 principal components —
PPM020703 PGS004586
(PPS_CRC)
 PSS011372|
European Ancestry|
713 individuals
 PGP000564 |
Xin J et al. Nat Commun (2024)
 Reported Trait: Overall survival of colorectal cancer HR: 1.8 [1.49, 2.17] AUROC: 0.658 — sex, age, smoking status, drinking status, research center, arm, stage, grade and top 10 principal components —
PPM020874 PGS004689
(colorectal_cancer)
 PSS011433|
European Ancestry|
40,648 individuals
 PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
 Reported Trait: Colorectal cancer — AUROC: 0.556 — — —
PPM021216 PGS004880
(INTERVENE_MegaPRS_Colorectal_cancer)
 PSS011566|
European Ancestry|
38,448 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.28 [1.21, 1.35] C-index: 0.57 [0.56, 0.59] — PCs 1-10 —
PPM021217 PGS004880
(INTERVENE_MegaPRS_Colorectal_cancer)
 PSS011565|
European Ancestry|
69,715 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.34 [1.27, 1.41] C-index: 0.58 [0.57, 0.6] — PCs 1-10 —
PPM021218 PGS004880
(INTERVENE_MegaPRS_Colorectal_cancer)
 PSS011564|
European Ancestry|
29,427 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.44 [1.38, 1.5] C-index: 0.6 [0.59, 0.62] — PCs 1-10 —
PPM021220 PGS004880
(INTERVENE_MegaPRS_Colorectal_cancer)
 PSS011563|
European Ancestry|
7,018 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.59 [1.41, 1.79] C-index: 0.64 [0.61, 0.68] — PCs 1-10 —
PPM021221 PGS004880
(INTERVENE_MegaPRS_Colorectal_cancer)
 PSS011561|
European Ancestry|
407,920 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.54 [1.5, 1.58] C-index: 0.62 [0.61, 0.63] — PCs 1-10 —
PPM021222 PGS004880
(INTERVENE_MegaPRS_Colorectal_cancer)
 PSS011560|
European Ancestry|
199,868 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.44 [1.37, 1.51] C-index: 0.61 [0.59, 0.63] — PCs 1-10 —
PPM021219 PGS004880
(INTERVENE_MegaPRS_Colorectal_cancer)
 PSS011562|
European Ancestry|
44,186 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.37 [1.12, 1.68] — — PCs 1-10 —
PPM021341 PGS004904
(PRS127_CRC)
 PSS011697|
European Ancestry|
113,256 individuals
 PGP000636 |
Jiang F et al. Int J Cancer (2023)
 Reported Trait: Incident and prevelant early-onset colorectal cancer OR: 2.29 [1.98, 2.64] — — Age, sex, education, family history, type 1 diabetes, 5 PCs —
PPM021342 PGS004904
(PRS127_CRC)
 PSS011697|
European Ancestry|
113,256 individuals
 PGP000636 |
Jiang F et al. Int J Cancer (2023)
 Reported Trait: Incident early-onset colorectal cancer OR: 2.51 [1.77, 3.56] — — Age, sex, education, family history, type 1 diabetes, 5 PCs —
PPM021343 PGS004904
(PRS127_CRC)
 PSS011697|
European Ancestry|
113,256 individuals
 PGP000636 |
Jiang F et al. Int J Cancer (2023)
 Reported Trait: Incident and prevelant early-onset colorectal adenoma OR: 1.59 [1.48, 1.71] — — Age, sex, education, family history, type 1 diabetes, 5 PCs —
PPM021344 PGS004904
(PRS127_CRC)
 PSS011697|
European Ancestry|
113,256 individuals
 PGP000636 |
Jiang F et al. Int J Cancer (2023)
 Reported Trait: Incident early-onset colorectal adenoma OR: 1.57 [1.39, 1.77] — — Age, sex, education, family history, type 1 diabetes, 5 PCs —
PPM021368 PGS004912
(PRS183)
 PSS011706|
East Asian Ancestry|
2,344 individuals
 PGP000643 |
Tian J et al. Genome Med (2024)
 Reported Trait: Colorectal advanced neoplasm OR: 1.61 [1.33, 1.94] AUROC: 0.591 — age, sex, family history, principal components, genotype platform —
PPM021369 PGS004912
(PRS183)
 PSS011706|
East Asian Ancestry|
2,344 individuals
 PGP000643 |
Tian J et al. Genome Med (2024)
 Reported Trait: Colorectal non-advanced adenoma OR: 1.25 [1.14, 1.38] AUROC: 0.556 — age, sex, family history, principal components, genotype platform —
PPM021370 PGS004912
(PRS183)
 PSS011705|
European Ancestry|
24,322 individuals
 PGP000643 |
Tian J et al. Genome Med (2024)
 Reported Trait: Colorectal advanced neoplasm OR: 1.34 [1.28, 1.4] AUROC: 0.582 — age, sex, family history, principal components, genotype platform —
PPM021371 PGS004912
(PRS183)
 PSS011705|
European Ancestry|
24,322 individuals
 PGP000643 |
Tian J et al. Genome Med (2024)
 Reported Trait: Colorectal non-advanced adenoma OR: 1.19 [1.15, 1.23] AUROC: 0.546 — age, sex, family history, principal components, genotype platform —

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
PSS011697 — — 113,256 individuals — European — UKB —
PSS010988 — — 470 individuals Mean = 67.3 years European — TCGA —
PSS011328 — — 133,830 individuals,
0.0 % Male samples
 — European
(British)		 — UKB —
PSS011329 — — 115,207 individuals,
100.0 % Male samples
 — European
(British)		 — UKB —
PSS011211 Colorectal cancer cases were identified through the Finnish Cancer Registry with International Classification of Diseases for Oncology, 3rd Edition (ICD-O-3) codes C18-C20 and from the death registry with ICD-10 codes C18-C20, or ICD-9 codes of 153, 1540 and 154, or ICD-8 codes of 153, 1540 and 1541. Median = 4.1 years
[
  • 8,801 cases
  • , 444,932 controls
]
,
43.9 % Male samples
 Mean = 52.9 years
Sd = 18.0 years		 European
(Finnish)		 — FinnGen —
PSS011433 — —
[
  • 519 cases
  • , 40,129 controls
]
 — European — UKB —
PSS011340 — —
[
  • 1,306 cases
  • , 66,122 controls
]
,
46.0 % Male samples
 — European
(White British)		 — UKB —
PSS011705 — —
[
  • 6,609 cases
  • , 17,713 controls
]
,
55.6 % Male samples
 Mean = 62.07 years
Sd = 5.21 years		 European — PLCO —
PSS011706 — —
[
  • 672 cases
  • , 1,672 controls
]
,
46.72 % Male samples
 Mean = 57.59 years
Sd = 8.47 years		 East Asian
(Chinese)		 — ZJCRC —
PSS011560 — —
[
  • 1,552 cases
  • , 198,316 controls
]
 — European — EB —
PSS010076 C18, C19, C20 —
[
  • 4,525 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS011561 — —
[
  • 5,916 cases
  • , 402,004 controls
]
 — European — FinnGen —
PSS011563 — —
[
  • 270 cases
  • , 6,748 controls
]
 — European — GS:SFHS —
PSS011564 — —
[
  • 2,390 cases
  • , 27,037 controls
]
 — European — GEL —
PSS011565 — —
[
  • 1,552 cases
  • , 68,163 controls
]
 — European — HUNT —
PSS011566 — —
[
  • 1,599 cases
  • , 36,849 controls
]
 — European — MGBB —
PSS011562 — —
[
  • 101 cases
  • , 44,085 controls
]
 — European — G&H —
PSS011364 — — 56,192 individuals — European — UKB —
PSS011366 — —
[
  • 337,041 cases
  • , 5,458 controls
]
,
44.0 % Male samples
 — European
(Finnish)		 — FinnGen —
PSS011372 — — 713 individuals — European — PLCO —
PSS000538 PheCode:153.2; ICD9CM:153.0, 153.1, 153.2, 153.3, 153.4, 153.5, 153.6, 153.7, 153.8, 153.9, 159.0, 209.10, 209.11, 209.12, 209.13, 209.14, 209.15, 209.16, 230.3, V10.05; ICD10CM:C18, C18.0, C18.1, C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.8, C18.9, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0 —
[
  • 462 cases
  • , 4,569 controls
]
 — European — MGI —
PSS011374 — — 543 individuals — East Asian
(Chinese)		 — NCRCC ZJCRC
PSS011373 — — 470 individuals — European — TCGA —
PSS011326 — —
[
  • 751 cases
  • , 3,058 controls
]
,
56.4 % Male samples
 Mean = 60.9 years
Sd = 6.15 years		 European, Asian unspecified, African unspecified, East Asian, Not reported European (>97%), Asian unspecified, African unspecified, East Asian, Not reported UKB —
PSS011327 — —
[
  • 1,031 cases
  • , 123,990 controls
]
,
44.9 % Male samples
 Mean = 54.9 years
Sd = 7.9 years		 European, Asian unspecified, African unspecified, East Asian, Not reported European (>95%), Asian unspecified, African unspecified, East Asian, Not reported UKB —