Trait: lung adenocarcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000571
Description A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor. [NCIT: C3512]
Trait category
Synonyms 9 synonyms
  • bronchogenic lung adenocarcinoma
  • nonsmall cell adenocarcinoma
  • Adenocarcinoma of Lung
  • adenocarcinoma of the lung
  • non-small cell lung adenocarcinoma
  • lung adenocarcinoma
  • adenocarcinoma of lung (disorder)
  • adenocarcinoma of lung
  • Adenocarcinoma of the Lung
Mapped term(s) 13 mapped terms
  • NCIT:C3512
  • SCTID:254626006
  • SNOMEDCT:254626006
  • EFO:0005288
  • MESH:C538231
  • UMLS:C0152013
  • MSH:C538231
  • OMIM:211980
  • MONDO:0005061
  • DOID:3910
  • GARD:0005742
  • NCIt:C3512

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)
PGS000070 PRS_LC_C PGP000049 Dai J et al. Lancet Respir Med (2019) Lung cancer lung adenocarcinoma 19

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
PPM000190 PGS000070 (PRS_LC_C) PSS000109 PGP000049
Dai J et al. (2019)
Reported Trait: Incident lung cancer HR (High genetic risk: top 5% vs. bottom 5% of PRS): 2.37[1.64, 3.44]
HR (Intermediate genetic risk: 5-95% vs. bottom 5% of PRS): 1.6[1.17, 2.2]
age, sex, source of region, smoking status

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
PSS000109 Participants were followed-up for cancer events mainly through linkage with official death certificates, chronic disease registries, and the Chinese national health insurance system. Median = 10.44 years
  • 1,316 cases
  • , 94,092 controls
42.93 % Male samples
Mean = 53.67 years
Se = 10.98 years
East Asian