Polygenic Score (PGS) ID: PGS002264

Predicted Trait
Reported Trait Pancreatic ductal adenocarcinoma
Mapped Trait(s) pancreatic ductal adenocarcinoma (MONDO_0005184)
Released in PGS Catalog: March 16, 2022
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Score Details

Score Construction
PGS Name PRS_Combined
Development Method
Name Curated variants associated with pancreatic cancer
Parameters 4 existing PRS were merged Nakatochi (PMID:30192808), Galeotti (PMID:32591343), Molina (PMID:32409590), Jia (PMID:32596635) with variants from a more recent GWAS Rashkin et al (PMID:32887889)
Variants
Original Genome Build GRCh37
Number of Variants 49
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000293
Citation (link to publication) Sharma S et al. Gastroenterology (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 99.3%
East Asian: 0.7%
435,847 individuals (100%)
PGS Evaluation
Not Reported: 100%
7 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90011808
Europe PMC: 32887889
 421,142 individuals European UKB
Europe PMC: 32596635
 432 individuals European UKB
Europe PMC: 30192808
[
  • 945 cases
  • , 2,109 controls
]
 East Asian
(Japanese)		 NR
Europe PMC: 32591343
[
  • 2,851 cases
  • , 4,810 controls
]
 European PANDoRA
Europe PMC: 32409590
[
  • 2,018 cases
  • , 1,540 controls
]
 European NR

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM012888 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 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 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 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 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 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 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 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 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 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 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 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 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 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) —

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
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 —