Trait: Digestive System Carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_1000218
Description A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma. [NCIT: C96963]
Trait categories
Cancer
Digestive system disorder
Synonyms 6 synonyms
  • carcinoma of digestive system
  • carcinoma of the gastrointestinal system
  • digestive system carcinoma
  • gastrointestinal carcinoma
  • gastrointestinal carcinoma (disease)
  • gastrointestinal system carcinoma
Mapped terms 7 mapped terms
  • DOID:0050922
  • EFO:1000218
  • HP:0002672
  • MEDGEN:57467
  • MONDO:0006181
  • NCIT:C96963
  • UMLS:C0151544
Child trait(s) 6 child traits

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 "Digestive System 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)
PGS000083
(CC_Pancreas)
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Pancreatic cancer pancreatic carcinoma 22
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000083/ScoringFiles/PGS000083.txt.gz
PGS000159
(cGRS_Pancreatic)
 PGP000075 |
Shi Z et al. Cancer Med (2019)
 Pancreatic cancer pancreatic carcinoma 9
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000159/ScoringFiles/PGS000159.txt.gz
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
PGS000385
(PRSWEB_PHECODE157_GWAS-Catalog-r2019-05-03-X157_P_5e-08_UKB_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Pancreatic cancer pancreatic carcinoma 17
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000385/ScoringFiles/PGS000385.txt.gz
PGS000386
(PRSWEB_PHECODE157_GWAS-Catalog-r2019-05-03-X157_PT_UKB_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Pancreatic cancer pancreatic carcinoma 10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000386/ScoringFiles/PGS000386.txt.gz
PGS000663
(wGRS22)
 PGP000123 |
Kim J et al. Cancer Epidemiol Biomarkers Prev (2020)
 Pancreatic cancer pancreatic carcinoma 22
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000663/ScoringFiles/PGS000663.txt.gz
PGS000725
(PRS_Pancreas)
 PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
 Pancreatic cancer pancreatic carcinoma 22
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000725/ScoringFiles/PGS000725.txt.gz
PGS000794
(CC_Pancreas_IV)
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Pancreatic cancer pancreatic carcinoma 22
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000794/ScoringFiles/PGS000794.txt.gz
PGS002264
(PRS_Combined)
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Pancreatic ductal adenocarcinoma pancreatic ductal adenocarcinoma 49
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002264/ScoringFiles/PGS002264.txt.gz
PGS002298
(PRS14_esophageal)
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Esophageal cancer esophageal carcinoma 14
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002298/ScoringFiles/PGS002298.txt.gz
PGS002740
(PRS22_PC)
 PGP000347 |
Yuan C et al. Ann Oncol (2022)
 Pancreatic cancer pancreatic carcinoma 22
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002740/ScoringFiles/PGS002740.txt.gz
PGS002747
(PRS_GI)
 PGP000359 |
Liu Y et al. Cancer Med (2022)
 Gastrointestinal cancer Digestive System Carcinoma 106
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002747/ScoringFiles/PGS002747.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
PGS003387
(best_ESCA_BEEA)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Esophageal adenocarcinoma or Barrett’s esophagus Barrett's esophagus,
esophageal adenocarcinoma		 601,980
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003387/ScoringFiles/PGS003387.txt.gz
PGS003388
(best_ESCA_EA)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Esophageal adenocarcinoma esophageal adenocarcinoma 356,743
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003388/ScoringFiles/PGS003388.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
PGS004250
(PRS19_pancreas)
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Pancreatic cancer pancreatic carcinoma 19
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004250/ScoringFiles/PGS004250.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
PGS004320
(PRS16_UGI)
 PGP000551 |
Liu W et al. Nutrients (2023)
 Upper gastrointestinal cancer Digestive System Carcinoma 16
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004320/ScoringFiles/PGS004320.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
PGS004693
(pancreatic_cancer)
 PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
 Pancreatic cancer pancreatic carcinoma 6,351,686
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004693/ScoringFiles/PGS004693.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
PPM000203 PGS000083
(CC_Pancreas)
 PSS000122|
European Ancestry|
411,019 individuals
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Reported Trait: Pancreatic cancer OR: 1.44 [1.33, 1.55] — — Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. Results from meta-analysis of GERA and UKB
PPM002049 PGS000083
(CC_Pancreas)
 PSS001022|
European Ancestry|
391,491 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.		 Reported Trait: Incident pancreatic cancer HR: 1.49 [1.36, 1.62] AUROC: 0.745
C-index: 0.742 (0.012)		 — Age at assessment, sex, genotyping array, PCs(1-15), family history of cancer (prostate, breast, lung, bowel), body mass index, cigarette pack-years, smoking status (never vs. former vs. current) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM017171 PGS000083
(CC_Pancreas)
 PSS010154|
European Ancestry|
451 individuals
 PGP000443 |
Byrne S et al. Int J Epidemiol (2023)
|Ext.		 Reported Trait: Pancreatic cancer HR: 1.51 [1.38, 1.66] — — age at baseline, sex (where relevant), assessment centre, 40 principal components of ancestries (PCs), Townsend Index, education, birth location, income, lifestyle index, additional cancer-specific covariates —
PPM000490 PGS000159
(cGRS_Pancreatic)
 PSS000279|
European Ancestry|
13,590 individuals
 PGP000075 |
Shi Z et al. Cancer Med (2019)
 Reported Trait: Pancreatic cancer — — Odds Ratio (OR; high vs. average risk groups): 1.67 [1.1, 2.53] — —
PPM000479 PGS000159
(cGRS_Pancreatic)
 PSS000279|
European Ancestry|
13,590 individuals
 PGP000075 |
Shi Z et al. Cancer Med (2019)
 Reported Trait: Pancreatic cancer — — Mean realative risk: 1.13 [1.07, 1.18]
Wilcoxon test (case vs. control) p-value: 0.00015		 — —
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
PPM001070 PGS000385
(PRSWEB_PHECODE157_GWAS-Catalog-r2019-05-03-X157_P_5e-08_UKB_20200608)
 PSS000565|
European Ancestry|
3,591 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Pancreatic cancer OR: 1.384 [1.235, 1.552]
β: 0.325 (0.0583)		 AUROC: 0.589 [0.559, 0.622] Nagelkerke's Pseudo-R²: 0.019
Brier score: 0.082
Odds Ratio (OR, top 1% vs. Rest): 2.58 [1.19, 5.57]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE157_GWAS-Catalog-r2019-05-03-X157_P_5e-08_UKB_20200608
PPM001071 PGS000386
(PRSWEB_PHECODE157_GWAS-Catalog-r2019-05-03-X157_PT_UKB_20200608)
 PSS000565|
European Ancestry|
3,591 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Pancreatic cancer OR: 1.342 [1.199, 1.503]
β: 0.294 (0.0577)		 AUROC: 0.579 [0.548, 0.611] Nagelkerke's Pseudo-R²: 0.0157
Brier score: 0.0822
Odds Ratio (OR, top 1% vs. Rest): 1.64 [0.655, 4.12]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE157_GWAS-Catalog-r2019-05-03-X157_PT_UKB_20200608
PPM001367 PGS000663
(wGRS22)
 PSS000598|
European Ancestry|
1,591 individuals
 PGP000123 |
Kim J et al. Cancer Epidemiol Biomarkers Prev (2020)
 Reported Trait: Pancreatic cancer OR: 1.37 [1.23, 1.53] — — — Cross validation approach-testing sample = 20%
PPM001368 PGS000663
(wGRS22)
 PSS000597|
European Ancestry|
956 individuals
 PGP000123 |
Kim J et al. Cancer Epidemiol Biomarkers Prev (2020)
 Reported Trait: Pancreatic cancer (0-10 years of follow-up) OR: 1.46 [1.27, 1.68] — — — Cross validation approach-testing sample = 20%
PPM001369 PGS000663
(wGRS22)
 PSS000598|
European Ancestry|
1,591 individuals
 PGP000123 |
Kim J et al. Cancer Epidemiol Biomarkers Prev (2020)
 Reported Trait: Pancreatic cancer OR: 1.37 [1.22, 1.53] AUROC: 0.65 — matching factors, age, cohort (also gender), race/ethnicity, smoking status, fasting status, month/year of blood collection, body mass index, waist-to-hip ratio, diabetic status Cross validation approach-testing sample = 20%
PPM001370 PGS000663
(wGRS22)
 PSS000597|
European Ancestry|
956 individuals
 PGP000123 |
Kim J et al. Cancer Epidemiol Biomarkers Prev (2020)
 Reported Trait: Pancreatic cancer (0-10 years of follow-up) OR: 1.44 [1.25, 1.67] AUROC: 0.67 — matching factors, age, cohort (also gender), race/ethnicity, smoking status, fasting status, month/year of blood collection, body mass index, waist-to-hip ratio, diabetic status Cross validation approach-testing sample = 20%
PPM001655 PGS000725
(PRS_Pancreas)
 PSS000859|
European Ancestry|
400,812 individuals
 PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
 Reported Trait: Incident Pancreatic cancer — AUROC: 0.639 [0.613, 0.664] — Genotyping array —
PPM002065 PGS000794
(CC_Pancreas_IV)
 PSS001022|
European Ancestry|
391,491 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Reported Trait: Incident pancreatic cancer HR: 1.49 [1.37, 1.63] AUROC: 0.745
C-index: 0.743 (0.012)		 R²: 0.439 Age at assessment, sex, genotyping array, PCs(1-15), family history of cancer (prostate, breast, lung, bowel), body mass index, cigarette pack-years, smoking status (never vs. former vs. current) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM012888 PGS002264
(PRS_Combined)
 PSS009595|
Ancestry Not Reported|
11,462 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma — AUROC: 0.605 [0.587, 0.623] Positive predictive values (PPV highest quintile): 14.4 [13, 15.9] — —
PPM012894 PGS002264
(PRS_Combined)
 PSS009600|
Ancestry Not Reported|
206 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma (with long-standing diabetes mellitus) — — Positive predictive values (PPV highest quintile): 0.239 [0.181, 0.303] — —
PPM012892 PGS002264
(PRS_Combined)
 PSS009598|
Ancestry Not Reported|
10,259 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma (without diabetes mellitus) — AUROC: 0.594 [0.573, 0.614] Positive predictive values (PPV highest quintile): 0.119 [0.105, 0.134] — —
PPM012895 PGS002264
(PRS_Combined)
 PSS009600|
Ancestry Not Reported|
206 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma (with long-standing diabetes mellitus) OR: 1.873 [1.53, 2.292] — — principal components (PC 1-10) —
PPM012896 PGS002264
(PRS_Combined)
 PSS009601|
Ancestry Not Reported|
998 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma (with new onset diabetes mellitus) — — Positive predictive values (PPV highest quintile): 0.867 [0.732, 0.949] — —
PPM012897 PGS002264
(PRS_Combined)
 PSS009601|
Ancestry Not Reported|
998 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma (with new onset diabetes mellitus) OR: 1.885 [1.279, 2.778] — — principal components (PC 1-10) —
PPM012898 PGS002264
(PRS_Combined)
 PSS009596|
Ancestry Not Reported|
1,203 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma (with diabetes mellitus) OR: 1.674 [1.443, 1.942] — — principal components (PC 1-10) —
PPM012899 PGS002264
(PRS_Combined)
 PSS009596|
Ancestry Not Reported|
1,203 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma (with diabetes mellitus) — AUROC: 0.645 — — —
PPM012900 PGS002264
(PRS_Combined)
 PSS009597|
Ancestry Not Reported|
242 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma (< 60 years) OR: 1.633 [1.292, 2.064] — — principal components (PC 1-10) —
PPM012901 PGS002264
(PRS_Combined)
 PSS009599|
Ancestry Not Reported|
274 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma (60 years) OR: 1.538 [1.287, 1.837] — — principal components (PC 1-10) —
PPM012893 PGS002264
(PRS_Combined)
 PSS009598|
Ancestry Not Reported|
10,259 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma (without diabetes mellitus) OR: 1.386 [1.288, 1.492] — — principal components (PC 1-10) —
PPM012889 PGS002264
(PRS_Combined)
 PSS009595|
Ancestry Not Reported|
11,462 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma — — HR (highest vs lowest quintile): 2.738 [2.227, 3.365] Smoking (never, current and previous), waist circumference (cm), DM onset (No DM, NODM, LSDM) and first-degree family history of digestive cancer (yes/no) —
PPM012890 PGS002264
(PRS_Combined)
 PSS009595|
Ancestry Not Reported|
11,462 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma — AUROC: 0.83 [0.8, 0.86] — Age of participants at recruitment, age when DM diagnosed, DM onset (No DM, NODM, LSDM), waist circumference (cm), and first-degree family history of digestive cancer (yes/no)., clinical risk —
PPM012891 PGS002264
(PRS_Combined)
 PSS009595|
Ancestry Not Reported|
11,462 individuals
 PGP000293 |
Sharma S et al. Gastroenterology (2022)
 Reported Trait: Incident pancreatic ductal adenocarcinoma OR: 1.43 — — principal components (PC 1-10) —
PPM013027 PGS002298
(PRS14_esophageal)
 PSS009661|
European Ancestry|
406 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Esophageal cancer — AUROC: 0.53 [0.51, 0.56] — — —
PPM014844 PGS002740
(PRS22_PC)
 PSS009913|
European Ancestry|
13,952 individuals
 PGP000347 |
Yuan C et al. Ann Oncol (2022)
 Reported Trait: Pancreatic cancer in those aged <= 60 years — — Odds ratio (OR, top vs bottom 10%): 6.91 [4.6, 10.4] — —
PPM014843 PGS002740
(PRS22_PC)
 PSS009913|
European Ancestry|
13,952 individuals
 PGP000347 |
Yuan C et al. Ann Oncol (2022)
 Reported Trait: Pancreatic cancer in those aged >70 years — — Odds ratio (OR, top vs bottom 10%): 4.12 [3.08, 5.52] — —
PPM014926 PGS002747
(PRS_GI)
 PSS009932|
European Ancestry|
430,036 individuals
 PGP000359 |
Liu Y et al. Cancer Med (2022)
 Reported Trait: Incident gastrointestinal cancer — — Hazard Ratio (HR, high vs low): 2.28 [2.09, 2.49] Age group, gender, qualification, Townsend Deprivation Index, family history of cancer, smoking status, alcohol consumption and the top 10 genetic principal components —
PPM014927 PGS002747
(PRS_GI)
 PSS009932|
European Ancestry|
430,036 individuals
 PGP000359 |
Liu Y et al. Cancer Med (2022)
 Reported Trait: Incident gastrointestinal cancer (with metabolic syndrome) — — Hazard Ratio (HR, high vs low): 2.75 [2.43, 3.12] — —
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 —
PPM016262 PGS003387
(best_ESCA_BEEA)
 PSS010077|
European Ancestry|
270,026 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: esophageal adenocarcinoma — AUROC: 0.819 R²: 0.0123 age, sex, top 20 genetic principal components —
PPM016263 PGS003388
(best_ESCA_EA)
 PSS010077|
European Ancestry|
270,026 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: esophageal adenocarcinoma — AUROC: 0.814 R²: 0.00875 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 —
PPM020307 PGS004250
(PRS19_pancreas)
 PSS011328|
European Ancestry|
133,830 individuals
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Reported Trait: Pancreatic cancer HR: 1.37 [1.16, 1.61] — — first 10 genetic principal components —
PPM020314 PGS004250
(PRS19_pancreas)
 PSS011329|
European Ancestry|
115,207 individuals
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Reported Trait: Pancreatic cancer HR: 1.39 [1.2, 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 —
PPM020419 PGS004320
(PRS16_UGI)
 PSS011353|
European Ancestry|
415,589 individuals
 PGP000551 |
Liu W et al. Nutrients (2023)
 Reported Trait: Upper gastrointestinal cancer with unfavourable diet — — Hazard ratio (HR, unfavourable diet and PRS in top quintile vs favourable diet with PRS in bottom quintile): 1.6 [1.2, 2.13] age at recruitment, sex, assessment center (10 regions), ethnicity, Townsend deprivation index, education, BMI, glycosylated hemoglobin (HbA1c), smoking status, alcohol intake frequency, physical activity, multimorbidity, family history of cancer, and the first 10 principal components of ancestry —
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 — — —
PPM020878 PGS004693
(pancreatic_cancer)
 PSS011437|
European Ancestry|
40,877 individuals
 PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
 Reported Trait: Pancreatic cancer — AUROC: 0.5426 — — —
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
PSS000122 Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 21100 —
[
  • 665 cases
  • , 410,354 controls
]
,
46.0 % Male samples
 Mean = 58.0 years European — GERA, UKB —
PSS009913 — —
[
  • 5,107 cases
  • , 8,845 controls
]
 — European — PANSCAN —
PSS000565 PheCode:157; ICD9:157, 157.0, 157.1, 157.2, 157.3, 157.4, 157.8, 157.9; ICD10:C25.0, C25.1, C25.2, C25.3, C25.4, C25.7, C25.8, C25.9 —
[
  • 327 cases
  • , 3,264 controls
]
 — European — UKB —
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 —
PSS011437 — —
[
  • 134 cases
  • , 40,743 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 —
PSS009932 MetS is defined as having any three or more of five MetS components, including central obesity, hypertension, dyslipidemia, hypertriglyceridemia, and hyperglyce- mia, according to the National Cholesterol Education Programme Adult Treatment Panel III criteria (NCEP- ATP III) —
[
  • 5,494 cases
  • , 424,542 controls
]
 — European — UKB —
PSS009595 PDAC cases were considered incident if diagnosed after study entry or without a date of diagnosis if identified by mortality alone. Median = 109.0 months
[
  • 1,042 cases
  • , 10,420 controls
]
,
52.0 % Male samples
 Mean = 61.3 years Not reported European, African American or Afro-Caribbean, South Asian, East Asian, African unspecified UKB —
PSS009596 PDAC cases were considered incident if diagnosed after study entry or without a date of diagnosis if identified by mortality alone. —
[
  • 251 cases
  • , 952 controls
]
 — Not reported European, African American or Afro-Caribbean, South Asian, East Asian, African unspecified UKB —
PSS009597 PDAC cases were considered incident if diagnosed after study entry or without a date of diagnosis if identified by mortality alone. —
[
  • 37 cases
  • , 205 controls
]
 Not reported European, African American or Afro-Caribbean, South Asian, East Asian, African unspecified UKB —
PSS009598 PDAC cases were considered incident if diagnosed after study entry or without a date of diagnosis if identified by mortality alone. —
[
  • 791 cases
  • , 9,468 controls
]
 — Not reported European, African American or Afro-Caribbean, South Asian, East Asian, African unspecified UKB —
PSS009599 PDAC cases were considered incident if diagnosed after study entry or without a date of diagnosis if identified by mortality alone. —
[
  • 55 cases
  • , 219 controls
]
 Not reported European, African American or Afro-Caribbean, South Asian, East Asian, African unspecified UKB —
PSS009600 PDAC cases were considered incident if diagnosed after study entry or without a date of diagnosis if identified by mortality alone. LSDM is defined in cases as type 2 diabetes diagnosed more than 24 months before PDAC diagnosis. Defined in controls as type 2 diabetes diagnosed more than 24 months before date of death or date of last follow up. —
[
  • 135 cases
  • , 70 controls
]
 — Not reported European, African American or Afro-Caribbean, South Asian, East Asian, African unspecified UKB —
PSS009601 PDAC cases were considered incident if diagnosed after study entry or without a date of diagnosis if identified by mortality alone. NODM is defined in cases as type 2 diabetes diagnosed within 24 months before or after diagnosis of PDAC. Defined in controls as type 2 diabetes diagnosed 24 months before death or last follow up. —
[
  • 116 cases
  • , 882 controls
]
 — Not reported European, African American or Afro-Caribbean, South Asian, East Asian, African unspecified UKB —
PSS011353 — Median = 1.12 years
[
  • 1,389 cases
  • , 414,200 controls
]
,
46.46 % Male samples
 — European — UKB —
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
PSS010077 C15, histology was one of the followings: Adenocarcinoma, NOS; Adenocarcinoma, intestinal type; Adenocarcinoma in tubulovillous adenoma —
[
  • 482 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS000597 In this study, cases were incident patients with primary pancreatic adenocarcinoma ascertained between 1984 and 2010 through self- report, report of next-of-kin, or death certificates and confirmed by medical record review and tumor registry data. Cases Diagnosed within 10 years of blood collection. Mean = 10.0 years
[
  • 304 cases
  • , 652 controls
]
,
28.1 % Male samples
 — European — HPFS, NHS, PHS, WHI Overlap with GWAS samples (percentage unknown). Cross validation approach used (20% as testing sample)
PSS000598 In this study, cases were incident patients with primary pancreatic adenocarcinoma ascertained between 1984 and 2010 through self- report, report of next-of-kin, or death certificates and confirmed by medical record review and tumor registry data. —
[
  • 500 cases
  • , 1,091 controls
]
,
33.4 % Male samples
 — European — HPFS, NHS, PHS, WHI Overlap with GWAS samples (percentage unknown). Cross validation approach used (20% as testing sample)
PSS000859 Data and diagnoses on site-specific incident cancers were provided by the National Health Service Information Centre for participants from England and Wales (follow-up through March 31, 2016) and by the NHS Central Register Scotland for participants from Scotland (follow-up through October 31, 2015). Cancers were coded by the International Classification of Diseases, Ninth Revision (ICD-9) or the International Classification of Diseases, Tenth Revision (ICD-10). Pancreatic Cancer=(ICD-9 = 157 or ICD-10 = C25) Median = 5.8 years
[
  • 432 cases
  • , 400,380 controls
]
,
46.5 % Male samples
 — European — UKB —
PSS011566 — —
[
  • 1,599 cases
  • , 36,849 controls
]
 — European — MGBB —
PSS011565 — —
[
  • 1,552 cases
  • , 68,163 controls
]
 — European — HUNT —
PSS011564 — —
[
  • 2,390 cases
  • , 27,037 controls
]
 — European — GEL —
PSS011563 — —
[
  • 270 cases
  • , 6,748 controls
]
 — European — GS:SFHS —
PSS011561 — —
[
  • 5,916 cases
  • , 402,004 controls
]
 — European — FinnGen —
PSS011562 — —
[
  • 101 cases
  • , 44,085 controls
]
 — European — G&H —
PSS011364 — — 56,192 individuals — European — UKB —
PSS010154 — —
[
  • 57 cases
  • , 394 controls
]
 — European — UKB —
PSS000279 Primary tumor samples from TCGA —
[
  • 163 cases
  • , 0 controls
]
 Mean = 66.0 years
Sd = 11.0 years		 European — TCGA —
PSS000279 — —
[
  • 0 cases
  • , 13,427 controls
]
 — European — eMERGE —
PSS011366 — —
[
  • 337,041 cases
  • , 5,458 controls
]
,
44.0 % Male samples
 — European
(Finnish)		 — FinnGen —
PSS009661 esophageal cancer (ICD-9 = 150 or ICD-10 = C15) — 406 individuals — European — UKB —
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 —
PSS001022 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. —
[
  • 493 cases
  • , 390,998 controls
]
 — European — UKB —
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 —