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 6 mapped terms
  • DOID:0050922
  • EFO:1000218
  • HP:0002672
  • MONDO:0006181
  • NCIT:C96963
  • UMLS:C0151544
Child trait(s) 4 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 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

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.
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)
: 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]
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]
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]
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]

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
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
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
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
PSS009661 esophageal cancer (ICD-9 = 150 or ICD-10 = C15) 406 individuals European UKB
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
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