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
Cancer
Synonyms 7 synonyms
  • LUAD
  • adenocarcinoma of lung
  • adenocarcinoma of the lung
  • bronchogenic lung adenocarcinoma
  • lung adenocarcinoma
  • non-small cell lung adenocarcinoma
  • nonsmall cell adenocarcinoma
Mapped terms 12 mapped terms
  • DOID:3910
  • EFO:0000571
  • EFO:0005288
  • GARD:0005742
  • MESH:C538231
  • MONDO:0005061
  • NCIT:C3512
  • OMIM:211980
  • ONCOTREE:LUAD
  • Orphanet:415268
  • SCTID:254626006
  • UMLS:C0152013

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000070
(PRS_LC_C)
 PGP000049 |
Dai J et al. Lancet Respir Med (2019)
 Lung cancer lung adenocarcinoma 19
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000070/ScoringFiles/PGS000070.txt.gz

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) 		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
PPM000190 PGS000070
(PRS_LC_C)
 PSS000109|
East Asian Ancestry|
95,408 individuals
 PGP000049 |
Dai J et al. Lancet Respir Med (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
(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
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
(Chinese)		 — CKB —