Trait: esophageal cancer

Trait Information
Identifier MONDO_0007576
Description A primary or metastatic malignant neoplasm involving the esophagus. [NCIT: C7478]
Trait category
Cancer
Digestive system disorder
Synonyms 11 synonyms
  • cancer of esophagus
  • esophageal cancer
  • esophagus cancer
  • malignant esophageal neoplasm
  • malignant esophageal tumor
  • malignant esophagus neoplasm
  • malignant esophagus tumor
  • malignant neoplasm of esophagus
  • malignant neoplasm of the esophagus
  • malignant tumor of esophagus
  • malignant tumor of the esophagus
Mapped term(s) 16 mapped terms
  • COHD:4092060
  • DOID:5041
  • GARD:0006383
  • ICD10:C15.3
  • ICD10:C15.4
  • ICD10:C15.5
  • ICD9:150.2
  • ICD9:150.3
  • ICD9:150.4
  • ICD9:150.5
  • ICD9:150.8
  • ICD9:150.9
  • NCIT:C7478
  • OMIM:133239
  • SCTID:363402007
  • UMLS:C0546837

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)
PGS000363 PRSWEB_PHECODE150_C15_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Cancer of esophagus esophageal cancer 1,081,646 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000363/ScoringFiles/PGS000363.txt.gz
PGS000364 PRSWEB_PHECODE150_C15_LASSOSUM_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Cancer of esophagus esophageal cancer 2,001 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000364/ScoringFiles/PGS000364.txt.gz
PGS000365 PRSWEB_PHECODE150_C3-OESOPHAGUS_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Cancer of esophagus esophageal cancer 1,070,434 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000365/ScoringFiles/PGS000365.txt.gz
PGS000366 PRSWEB_PHECODE150_UKBB-SAIGE-HRC-X150_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Cancer of esophagus esophageal cancer 1,119,238 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000366/ScoringFiles/PGS000366.txt.gz

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
(PPM ID)
Evaluated Score PGS Sample Set ID
(PSS 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
PPM001048 PGS000363 (PRSWEB_PHECODE150_C15_PRS-CS_MGI_20200608) PSS000537 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Cancer of esophagus OR: 1.249 [1.075, 1.45]
β: 0.222 (0.0762)
AUROC: 0.564 [0.525, 0.604] Nagelkerke's Pseudo-R²: 0.0089
Brier score: 0.0825
Odds Ratio (OR, top 1% vs. Rest): 2.84 [1.07, 7.54]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE150_C15_PRS-CS_MGI_20200608
PPM001049 PGS000364 (PRSWEB_PHECODE150_C15_LASSOSUM_MGI_20200608) PSS000537 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Cancer of esophagus OR: 1.203 [1.041, 1.391]
β: 0.185 (0.074)
AUROC: 0.551 [0.51, 0.588] Nagelkerke's Pseudo-R²: 0.00648
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 1.81 [0.56, 5.82]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE150_C15_LASSOSUM_MGI_20200608
PPM001050 PGS000365 (PRSWEB_PHECODE150_C3-OESOPHAGUS_PRS-CS_MGI_20200608) PSS000537 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Cancer of esophagus OR: 1.187 [1.021, 1.38]
β: 0.171 (0.0769)
AUROC: 0.553 [0.514, 0.596] Nagelkerke's Pseudo-R²: 0.00521
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 1.27 [0.329, 4.9]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE150_C3-OESOPHAGUS_PRS-CS_MGI_20200608
PPM001051 PGS000366 (PRSWEB_PHECODE150_UKBB-SAIGE-HRC-X150_PRS-CS_MGI_20200608) PSS000537 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Cancer of esophagus OR: 1.24 [1.067, 1.441]
β: 0.215 (0.0766)
AUROC: 0.564 [0.522, 0.605] Nagelkerke's Pseudo-R²: 0.00839
Brier score: 0.0825
Odds Ratio (OR, top 1% vs. Rest): 1.28 [0.332, 4.95]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE150_UKBB-SAIGE-HRC-X150_PRS-CS_MGI_20200608

Evaluated Samples

PGS Sample Set ID
(PSS 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
PSS000537 PheCode:150; ICD9CM:150.0, 150.1, 150.2, 150.3, 150.4, 150.5, 150.8, 150.9, 230.1, V10.03; ICD10CM:C15, C15.3, C15.4, C15.5, C15.8, C15.9, D00.1
[
  • 188 cases
  • , 1,876 controls
]
European MGI