Trait: pancreatic carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0002618
Description A carcinoma that arises from epithelial cells of the exocrine pancreas [MONDO: DesignPattern]
Trait category
Digestive system disorder
Synonyms 37 synonyms
  • Neoplasms, Pancreas
  • pancreatic adenocarcinoma
  • Neoplasm, Pancreatic
  • carcinoma of pancreas
  • Neoplasms, Pancreatic
  • Cancers, Pancreas
  • Cancer of Pancreas
  • Cancers, Pancreatic
  • exocrine pancreatic carcinoma
  • exocrine cancer
  • pancreatic cancer (not islets)
  • Exocrine pancreas carcinoma
  • pancreatic cancer
  • Pancreas Cancer
  • exocrine pancreas carcinoma
  • cancer of the pancreas
  • carcinoma of exocrine pancreas
  • carcinoma of pancreas (disorder)
  • Pancreatic Cancers
  • Neoplasm, Pancreas
  • pancreas cancer
  • pancreas carcinoma
  • Pancreas Cancers
  • Pancreatic Neoplasms
  • Pancreas Neoplasm
  • Pancreatic Neoplasm
  • cancer of pancreas
  • Cancer, Pancreas
  • Cancer, Pancreatic
  • Pancreatic Cancer
  • carcinoma of the pancreas
  • pancreatic carcinoma
  • Cancer of the Pancreas
  • Pancreas Neoplasms
Mapped term(s) 10 mapped terms
  • ICD10:C25
  • SCTID:372142002
  • UMLS:C0235974
  • MSH:C562463
  • NCIT:C3850
  • OMIM:260350
  • DOID:4905
  • NCIt:C3850
  • MONDO:0005192
  • SNOMEDCT:372142002

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000083 CC_Pancreas PGP000050 Graff RE et al. bioRxiv (2020) Pre Pancreatic cancer pancreatic carcinoma 22
PGS000159 cGRS_Pancreatic PGP000075 Shi Z et al. Cancer Med (2019) Pancreatic cancer pancreatic carcinoma 9

PGS 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
Evaluated Score PGS Sample Set ID
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000479 PGS000159 (cGRS_Pancreatic) PSS000279 PGP000075
Shi Z et al. (2019)
Reported Trait: Pancreatic cancer Mean realative risk: 1.13[1.07, 1.18]
Wilcoxon test (case vs. control) p-value: 0.00015
PPM000490 PGS000159 (cGRS_Pancreatic) PSS000279 PGP000075
Shi Z et al. (2019)
Reported Trait: Pancreatic cancer Odds Ratio (OR; high vs. average risk groups): 1.67[1.1, 2.53]
PPM000203 PGS000083 (CC_Pancreas) PSS000122 PGP000050
Graff RE et al. (2020)
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

Evaluated Samples

PGS Sample Set ID
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
PSS000279 Primary tumor samples from TCGA
  • 163 cases
  • , 0 controls
Mean = 66.0 years
Sd = 11.0 years
European TCGA
  • 0 cases
  • , 13,427 controls
European eMERGE