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. Representa... tive examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma. [NCIT: C96963]Show more
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.
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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 cancerpancreatic carcinoma22
G
-
E
 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 cancerpancreatic carcinoma9
G
-
E
 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 cancercolon carcinoma1,111,490
G
D
E
 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 cancercolon carcinoma5,740,814
G
D
E
 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 cancercolon carcinoma1,111,399
G
D
E
 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 cancercolon carcinoma5,715,093
G
D
E
 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 cancercolon carcinoma1,119,238
G
D
E
 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 cancercolon carcinoma12
G
D
E
 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 cancercolon carcinoma150
G
D
E
 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 cancerpancreatic carcinoma17
G
D
E
 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 cancerpancreatic carcinoma10
G
D
E
 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 cancerpancreatic carcinoma22
G
-
E
 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 cancerpancreatic carcinoma22
G
-
E
 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 cancerpancreatic carcinoma22
G
-
E
 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 adenocarcinomapancreatic ductal adenocarcinoma49
G
-
E
 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 canceresophageal carcinoma14
G
-
E
 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 cancerpancreatic carcinoma22
G
-
E
 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 cancerDigestive System Carcinoma106
G
-
E
 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 cancercolorectal carcinoma61
G
-
E
 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 esophagusBarrett's esophagus,
esophageal adenocarcinoma		601,980
G
-
E
 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 adenocarcinomaesophageal adenocarcinoma356,743
G
-
E
 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 cancercolorectal carcinoma81
G
D
E
 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 cancercolorectal carcinoma1,088,133
G
-
E
 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 cancercolorectal carcinoma89
G
-
E
 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 cancercolorectal carcinoma67
G
-
E
 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 cancerpancreatic carcinoma19
G
-
E
 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 cancercolorectal carcinoma70
-
D
E
 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 cancercolorectal carcinoma600
-
D
E
 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 cancercolorectal carcinoma300
-
D
E
 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 cancercolorectal carcinoma200
-
D
E
 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 cancercolorectal carcinoma700
-
D
E
 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 cancerDigestive System Carcinoma16
G
-
E
 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 carcinoma1,059,939
-
D
E
 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 carcinoma1,059,939
-
D
E
 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 cancercolorectal carcinoma1,099,906
G
-
E
 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 cancercolorectal carcinoma287
-
D
E
 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 cancercolorectal carcinoma1,077,789
G
D
E
 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 cancerpancreatic carcinoma6,351,686
G
D
E
 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 cancercolorectal carcinoma843,248
G
D
E
 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 cancercolorectal carcinoma127
G
-
E
 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 neoplasmcolorectal carcinoma183
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004912/ScoringFiles/PGS004912.txt.gz
PGS005160
(PRS-ESC)
PGP000711 |
Zhu M et al. PLoS Med (2025)
Esophageal canceresophageal carcinoma11
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005160/ScoringFiles/PGS005160.txt.gz
PGS005162
(PRS-CRC)
PGP000711 |
Zhu M et al. PLoS Med (2025)
Colorectal cancercolorectal carcinoma11,462
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005162/ScoringFiles/PGS005162.txt.gz
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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.

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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
PPM000203PGS000083
(CC_Pancreas)
PSS000122|
European Ancestry|
411,019 individuals
PGP000050 |
Graff RE et al. Nat Commun (2021)
Reported Trait: Pancreatic cancerOR: 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
PPM000479PGS000159
(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		——
PPM000490PGS000159
(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]——
PPM001061PGS000376
(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 cancerOR: 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 1-4Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608
PPM001062PGS000377
(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 cancerOR: 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 1-4Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608
PPM001063PGS000378
(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 cancerOR: 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 1-4Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608
PPM001064PGS000379
(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 cancerOR: 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 1-4Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608
PPM001065PGS000380
(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 cancerOR: 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 1-4Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608
PPM001066PGS000381
(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 cancerOR: 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 1-4Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608
PPM001067PGS000382
(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 cancerOR: 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 1-4Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608
PPM001070PGS000385
(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 cancerOR: 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 1-4Cancer PRSweb PheWAS Results: PRSWEB_PHECODE157_GWAS-Catalog-r2019-05-03-X157_P_5e-08_UKB_20200608
PPM001071PGS000386
(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 cancerOR: 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 1-4Cancer PRSweb PheWAS Results: PRSWEB_PHECODE157_GWAS-Catalog-r2019-05-03-X157_PT_UKB_20200608
PPM001367PGS000663
(wGRS22)
PSS000598|
European Ancestry|
1,591 individuals
PGP000123 |
Kim J et al. Cancer Epidemiol Biomarkers Prev (2020)
Reported Trait: Pancreatic cancerOR: 1.37 [1.23, 1.53]———Cross validation approach-testing sample = 20%
PPM001368PGS000663
(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%
PPM001369PGS000663
(wGRS22)
PSS000598|
European Ancestry|
1,591 individuals
PGP000123 |
Kim J et al. Cancer Epidemiol Biomarkers Prev (2020)
Reported Trait: Pancreatic cancerOR: 1.37 [1.22, 1.53]AUROC: 0.65—matching factors, age, cohort (also gender), race/ethnicity, smoking status, fasting status, month/y... ear of blood collection, body mass index, waist-to-hip ratio, diabetic statusShow moreCross validation approach-testing sample = 20%
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Evaluated Samples

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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
PSS000122Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 code... s in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 21100Show more—
[
  • 665 cases
  • , 410,354 controls
]
,
46.0 % Male samples
Mean = 58.0 yearsEuropean—GERA, UKB—
PSS000279Primary 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—
PSS000538PheCode: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, 2... 09.10, 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, D01.0Show more—
[
  • 462 cases
  • , 4,569 controls
]
—European—MGI—
PSS000565PheCode:157; ICD9:157, 157.0, 157.1, 157.2, 157.3, 157.4, 157.8, 157.9; ICD10:C25.0, C25.1, C25.2, C... 25.3, C25.4, C25.7, C25.8, C25.9Show more—
[
  • 327 cases
  • , 3,264 controls
]
—European—UKB—
PSS000597In this study, cases were incident patients with primary pancreatic adenocarcinoma ascertained betwe... en 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.Show moreMean = 10.0 years
[
  • 304 cases
  • , 652 controls
]
,
28.1 % Male samples
—European—HPFS, NHS, PHS, WHIOverlap with GWAS samples (percentage unknown). Cross validation approach used (20% as testing sampl... e)Show more
PSS000598In this study, cases were incident patients with primary pancreatic adenocarcinoma ascertained betwe... en 1984 and 2010 through self- report, report of next-of-kin, or death certificates and confirmed by medical record review and tumor registry data.Show more—
[
  • 500 cases
  • , 1,091 controls
]
,
33.4 % Male samples
—European—HPFS, NHS, PHS, WHIOverlap with GWAS samples (percentage unknown). Cross validation approach used (20% as testing sampl... e)Show more
PSS000859Data and diagnoses on site-specific incident cancers were provided by the National Health Service In... formation 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)Show moreMedian = 5.8 years
[
  • 432 cases
  • , 400,380 controls
]
,
46.5 % Male samples
—European—UKB—
PSS001022Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant pri... mary cancer were defined as cases.Show more—
[
  • 493 cases
  • , 390,998 controls
]
—European—UKB—
PSS009595PDAC cases were considered incident if diagnosed after study entry or without a date of diagnosis if...  identified by mortality alone.Show moreMedian = 109.0 months
[
  • 1,042 cases
  • , 10,420 controls
]
,
52.0 % Male samples
Mean = 61.3 yearsNot reportedEuropean, African American or Afro-Caribbean, South Asian, East Asian, African unspecifiedUKB—
PSS009596PDAC cases were considered incident if diagnosed after study entry or without a date of diagnosis if...  identified by mortality alone.Show more—
[
  • 251 cases
  • , 952 controls
]
—Not reportedEuropean, African American or Afro-Caribbean, South Asian, East Asian, African unspecifiedUKB—
PSS009597PDAC cases were considered incident if diagnosed after study entry or without a date of diagnosis if...  identified by mortality alone.Show more—
[
  • 37 cases
  • , 205 controls
]
Not reportedEuropean, African American or Afro-Caribbean, South Asian, East Asian, African unspecifiedUKB—
PSS009598PDAC cases were considered incident if diagnosed after study entry or without a date of diagnosis if...  identified by mortality alone.Show more—
[
  • 791 cases
  • , 9,468 controls
]
—Not reportedEuropean, African American or Afro-Caribbean, South Asian, East Asian, African unspecifiedUKB—
PSS009599PDAC cases were considered incident if diagnosed after study entry or without a date of diagnosis if...  identified by mortality alone.Show more—
[
  • 55 cases
  • , 219 controls
]
Not reportedEuropean, African American or Afro-Caribbean, South Asian, East Asian, African unspecifiedUKB—
PSS009600PDAC 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.Show more—
[
  • 135 cases
  • , 70 controls
]
—Not reportedEuropean, African American or Afro-Caribbean, South Asian, East Asian, African unspecifiedUKB—
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