Trait: lung carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0001071
Description A carcinoma that arises from epithelial cells of the lung
Trait category
Cancer
Synonyms 7 synonyms
  • cancer of lung
  • cancer of the lung
  • carcinoma of lung
  • carcinoma of the lung
  • lung cancer
  • lung cancer, NOS
  • lung carcinoma
Mapped terms 8 mapped terms
  • DOID:3905
  • EFO:0001071
  • ICD10:C34.90
  • MEDGEN:195765
  • MONDO:0005138
  • NCIT:C4878
  • UMLS:C0684249
  • icd11.foundation:947165291
Child trait(s) 2 child traits

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "lung carcinoma" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 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
PGS000078
(CC_Lung)
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Lung cancer lung carcinoma 109
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000078/ScoringFiles/PGS000078.txt.gz
PGS000156
(cGRS_Lung)
 PGP000075 |
Shi Z et al. Cancer Med (2019)
 Lung cancer lung carcinoma 6
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000156/ScoringFiles/PGS000156.txt.gz
PGS000721
(PRS_Lung)
 PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
 Lung cancer lung carcinoma 19
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000721/ScoringFiles/PGS000721.txt.gz
PGS000740
(PRS128_LC)
 PGP000148 |
Hung RJ et al. Cancer Res (2021)
 Lung cancer lung carcinoma 128
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000740/ScoringFiles/PGS000740.txt.gz
PGS000789
(CC_Lung_IV)
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Lung cancer lung carcinoma 109
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000789/ScoringFiles/PGS000789.txt.gz
PGS000880
(PRS18_LC)
 PGP000226 |
Xie J et al. Sleep (2021)
 Lung cancer lung carcinoma 18
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000880/ScoringFiles/PGS000880.txt.gz
PGS002270
(PRS33_LC)
 PGP000300 |
Zhang P et al. Br J Cancer (2022)
 Lung cancer lung carcinoma 33
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002270/ScoringFiles/PGS002270.txt.gz
PGS002808
(PGS20_LC)
 PGP000387 |
Qin N et al. Lancet Oncol (2022)
 Lung cancer lung carcinoma 20
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002808/ScoringFiles/PGS002808.txt.gz
PGS003391
(best_LUCA)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Lung cancer lung carcinoma 133
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003391/ScoringFiles/PGS003391.txt.gz
PGS003392
(best_LUSC)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Lung squamous cell carcinoma squamous cell lung carcinoma 90
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003392/ScoringFiles/PGS003392.txt.gz
PGS003393
(best_LUAD)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Lung adenocarcinoma lung adenocarcinoma 74
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003393/ScoringFiles/PGS003393.txt.gz
PGS004164
(PRS16_LC)
 PGP000518 |
Wei X et al. Int J Cancer (2023)
 Lung cancer in never smokers lung carcinoma,
smoking status measurement		 16
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004164/ScoringFiles/PGS004164.txt.gz
PGS004165
(PRS21_LC)
 PGP000518 |
Wei X et al. Int J Cancer (2023)
 Lung cancer lung carcinoma 21
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004165/ScoringFiles/PGS004165.txt.gz
PGS004246
(PRS43_lung)
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Lung cancer lung carcinoma 43
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004246/ScoringFiles/PGS004246.txt.gz
PGS004325
(GRS19_LC)
 PGP000559 |
Wang Y et al. Front Physiol (2023)
 Lung cancer lung carcinoma 19
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004325/ScoringFiles/PGS004325.txt.gz
PGS004442
(disease.C34.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 C34 (Malignant neoplasm of bronchus and lung) lung carcinoma 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004442/ScoringFiles/PGS004442.txt.gz
PGS004512
(meta.C34.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 C34 (Malignant neoplasm of bronchus and lung) lung carcinoma 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004512/ScoringFiles/PGS004512.txt.gz
PGS004691
(lung_cancer)
 PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
 Lung cancer lung carcinoma 950,353
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004691/ScoringFiles/PGS004691.txt.gz
PGS004860
(Genome-wide-PRS)
 PGP000607 |
Boumtje V et al. EBioMedicine (2024)
 Lung cancer lung carcinoma 1,143,554
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004860/ScoringFiles/PGS004860.txt.gz
PGS004884
(INTERVENE_MegaPRS_Lung_cancer)
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Lung cancer lung carcinoma 655,479
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004884/ScoringFiles/PGS004884.txt.gz
PGS004955
(PRS23)
 PGP000678 |
Zhu M et al. Int J Epidemiol (2023)
 Lung cancer lung carcinoma 23
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004955/ScoringFiles/PGS004955.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 —
PPM015573 PGS000070
(PRS_LC_C)
 PSS009987|
East Asian Ancestry|
19,546 individuals
 PGP000387 |
Qin N et al. Lancet Oncol (2022)
|Ext.		 Reported Trait: Lung cancer — — Odds ratio (OR, high vs low risk): 2.18 [2.00, 2.38] — —
PPM015575 PGS000070
(PRS_LC_C)
 PSS009987|
East Asian Ancestry|
19,546 individuals
 PGP000387 |
Qin N et al. Lancet Oncol (2022)
|Ext.		 Reported Trait: Lung cancer x autosomal mosaic loss abnormalities interaction OR: 2.36 [1.09, 5.08] — — — —
PPM018700 PGS000070
(PRS_LC_C)
 PSS011073|
East Asian Ancestry|
381 individuals
 PGP000494 |
Ho PJ et al. Elife (2023)
|Ext.		 Reported Trait: Lung cancer — AUROC: 0.68 [0.65, 0.71] Hazard ratio (HR, high vs low tertile): 2.01 [1.44, 2.81] age at recruitment —
PPM020283 PGS000070
(PRS_LC_C)
 PSS011324|
European Ancestry|
1,202 individuals
 PGP000539 |
Lebrett MB et al. Genet Med (2023)
|Ext.		 Reported Trait: Lung cancer — AUROC: 0.726 [0.698, 0.754] — Age, sex, current smoking status, BMI, forced expiratory volume in 1 second/forced vital capacity ratio —
PPM021774 PGS000070
(PRS_LC_C)
 PSS011793|
East Asian Ancestry|
100,615 individuals
 PGP000678 |
Zhu M et al. Int J Epidemiol (2023)
|Ext.		 Reported Trait: Incident lung cancer HR: 1.19 [1.13, 1.25] — — Age, sex, smoking status, BMI, highest education level, family history of cancer, personal medical history (previous cancer diagnoses and chronic obstructive pulmonary disease), the forced expiratory volume in 1 second, 10 PCs —
PPM022188 PGS000070
(PRS_LC_C)
 PSS011836|
East Asian Ancestry|
1,197 individuals
 PGP000687 |
Lee PH et al. JCO Precis Oncol (2024)
|Ext.		 Reported Trait: Incident non-small cell lung cancer — — Hazard ratio (HR, high vs low PGS quartile): 2.33 [0.6, 9.04] Age, smoking, family history of lung cancer —
PPM022189 PGS000070
(PRS_LC_C)
 PSS011835|
East Asian Ancestry|
1,090 individuals
 PGP000687 |
Lee PH et al. JCO Precis Oncol (2024)
|Ext.		 Reported Trait: Incident non-small cell lung cancer — — Hazard ratio (HR, high vs low PGS quartile): 2.97 [1.25, 7.07] Age, smoking, family history of lung cancer —
PPM000198 PGS000078
(CC_Lung)
 PSS000117|
European Ancestry|
412,842 individuals
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Reported Trait: Lung cancer OR: 1.12 [1.08, 1.17] — — Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. Results from meta-analysis of GERA and UKB
PPM002044 PGS000078
(CC_Lung)
 PSS001017|
European Ancestry|
392,539 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.		 Reported Trait: Incident lung cancer HR: 1.16 [1.11, 1.22] AUROC: 0.846
C-index: 0.849 (0.006)		 — Age at assessment, sex, genotyping array, PCs(1-15), family history of lung cancer, PM2.5 in 2010, cigarettes per day, years of smoking, smoking status (never vs. former vs. current), smoking status*cigarettes per day, smoking stutus*years of smoking C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM017166 PGS000078
(CC_Lung)
 PSS010146|
European Ancestry|
1,256 individuals
 PGP000443 |
Byrne S et al. Int J Epidemiol (2023)
|Ext.		 Reported Trait: Lung cancer HR: 1.26 [1.19, 1.33] — — age at baseline, sex (where relevant), assessment centre, 40 principal components of ancestries (PCs), Townsend Index, education, birth location, income, lifestyle index, additional cancer-specific covariates —
PPM020285 PGS000078
(CC_Lung)
 PSS011324|
European Ancestry|
1,202 individuals
 PGP000539 |
Lebrett MB et al. Genet Med (2023)
|Ext.		 Reported Trait: Lung cancer — AUROC: 0.728 [0.7, 0.756] — Age, sex, current smoking status, BMI, forced expiratory volume in 1 second/forced vital capacity ratio —
PPM000487 PGS000156
(cGRS_Lung)
 PSS000276|
European Ancestry|
14,335 individuals
 PGP000075 |
Shi Z et al. Cancer Med (2019)
 Reported Trait: Lung cancer — — Odds Ratio (OR; high vs. average risk groups): 0.88 [0.57, 1.36] — —
PPM000476 PGS000156
(cGRS_Lung)
 PSS000276|
European Ancestry|
14,335 individuals
 PGP000075 |
Shi Z et al. Cancer Med (2019)
 Reported Trait: Lung cancer — — Mean realative risk: 1.01 [0.99, 1.02]
Wilcoxon test (case vs. control) p-value: 0.0116		 — —
PPM020284 PGS000156
(cGRS_Lung)
 PSS011324|
European Ancestry|
1,202 individuals
 PGP000539 |
Lebrett MB et al. Genet Med (2023)
|Ext.		 Reported Trait: Lung cancer — AUROC: 0.732 [0.704, 0.76] — Age, sex, current smoking status, BMI, forced expiratory volume in 1 second/forced vital capacity ratio —
PPM001650 PGS000721
(PRS_Lung)
 PSS000857|
European Ancestry|
400,812 individuals
 PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
 Reported Trait: Incident lung cancer — AUROC: 0.591 [0.576, 0.606] — Genotyping array —
PPM001651 PGS000721
(PRS_Lung)
 PSS000857|
European Ancestry|
400,812 individuals
 PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
 Reported Trait: Incident lung cancer — AUROC: 0.615 [0.6, 0.629] — family history of cancer (in first-degree relatives), genotyping array —
PPM018701 PGS000721
(PRS_Lung)
 PSS011072|
East Asian Ancestry|
181 individuals
 PGP000494 |
Ho PJ et al. Elife (2023)
|Ext.		 Reported Trait: Lung cancer — AUROC: 0.69 [0.65, 0.73] Hazard ratio (HR, high vs low tertile): 1.69 [1.03, 2.79] age at recruitment —
PPM020286 PGS000721
(PRS_Lung)
 PSS011324|
European Ancestry|
1,202 individuals
 PGP000539 |
Lebrett MB et al. Genet Med (2023)
|Ext.		 Reported Trait: Lung cancer — AUROC: 0.738 [0.71, 0.766] — Age, sex, current smoking status, BMI, forced expiratory volume in 1 second/forced vital capacity ratio —
PPM001780 PGS000740
(PRS128_LC)
 PSS000921|
European Ancestry|
183,671 individuals
 PGP000148 |
Hung RJ et al. Cancer Res (2021)
 Reported Trait: Lung cancer in individuals who have never smoked OR: 1.28 [1.13, 1.46] — — Age, sex, PCs(1-5) 14/128 were omitted from the analysis (missing in HRC panel)
PPM001781 PGS000740
(PRS128_LC)
 PSS000920|
European Ancestry|
118,310 individuals
 PGP000148 |
Hung RJ et al. Cancer Res (2021)
 Reported Trait: Lung cancer in individuals who are former smokers OR: 1.25 [1.17, 1.34] — — Age, sex, PCs(1-5) 14/128 were omitted from the analysis (missing in HRC panel)
PPM001784 PGS000740
(PRS128_LC)
 PSS000916|
European Ancestry|
42,540 individuals
 PGP000148 |
Hung RJ et al. Cancer Res (2021)
 Reported Trait: Lung cancer in individuals with no family history of lung cancer OR: 1.29 [1.22, 1.36] — — Age, sex, PCs(1-5) 14/128 were omitted from the analysis (missing in HRC panel)
PPM001785 PGS000740
(PRS128_LC)
 PSS000917|
European Ancestry|
330,046 individuals
 PGP000148 |
Hung RJ et al. Cancer Res (2021)
 Reported Trait: Lung cancer in individuals with COPD OR: 1.26 [1.09, 1.46] — — Age, sex, PCs(1-5) 14/128 were omitted from the analysis (missing in HRC panel)
PPM001789 PGS000740
(PRS128_LC)
 PSS000913|
European Ancestry|
167,955 individuals
 PGP000148 |
Hung RJ et al. Cancer Res (2021)
 Reported Trait: Early onset lung cancer (< 50 years) — AUROC: 0.811 [0.701, 0.922] — Age, sex, education, body mass index, personal history of cancer, family history of lung cancer, lung function 14/128 were omitted from the analysis (missing in HRC panel)
PPM001779 PGS000740
(PRS128_LC)
 PSS000912|
European Ancestry|
335,931 individuals
 PGP000148 |
Hung RJ et al. Cancer Res (2021)
 Reported Trait: Lung cancer OR: 1.26 [1.2, 1.32] — Odds Ratio (OR, top 10% vs low risk): 2.39 [1.92, 3.0] Age, sex, PCs(1-5) 14/128 were omitted from the analysis (missing in HRC panel)
PPM001782 PGS000740
(PRS128_LC)
 PSS000919|
European Ancestry|
33,950 individuals
 PGP000148 |
Hung RJ et al. Cancer Res (2021)
 Reported Trait: Lung cancer in individuals who currently smoke OR: 1.28 [1.19, 1.38] — — Age, sex, PCs(1-5) 14/128 were omitted from the analysis (missing in HRC panel)
PPM001783 PGS000740
(PRS128_LC)
 PSS000918|
European Ancestry|
287,620 individuals
 PGP000148 |
Hung RJ et al. Cancer Res (2021)
 Reported Trait: Lung cancer in individuals with a family history of lung cancer OR: 1.16 [1.05, 1.27] — — Age, sex, PCs(1-5) 14/128 were omitted from the analysis (missing in HRC panel)
PPM001786 PGS000740
(PRS128_LC)
 PSS000915|
European Ancestry|
5,491 individuals
 PGP000148 |
Hung RJ et al. Cancer Res (2021)
 Reported Trait: Lung cancer in individuals with no COPD diagnosis OR: 1.26 [1.2, 1.32] — — Age, sex, PCs(1-5) 14/128 were omitted from the analysis (missing in HRC panel)
PPM001787 PGS000740
(PRS128_LC)
 PSS000913|
European Ancestry|
167,955 individuals
 PGP000148 |
Hung RJ et al. Cancer Res (2021)
 Reported Trait: Lung cancer (absolute risk) β: 0.663 — — Age, sex, PCs(1-5) 14/128 were omitted from the analysis (missing in HRC panel)
PPM001788 PGS000740
(PRS128_LC)
 PSS000914|
European Ancestry|
67,186 individuals
 PGP000148 |
Hung RJ et al. Cancer Res (2021)
 Reported Trait: Lung cancer in individuals who have never smoked — AUROC: 0.687 [0.628, 0.746] — Age, sex, education, body mass index, personal history of cancer, family history of lung cancer, lung function 14/128 were omitted from the analysis (missing in HRC panel)
PPM020289 PGS000740
(PRS128_LC)
 PSS011324|
European Ancestry|
1,202 individuals
 PGP000539 |
Lebrett MB et al. Genet Med (2023)
|Ext.		 Reported Trait: Lung cancer — AUROC: 0.73 [0.702, 0.758] — Age, sex, current smoking status, BMI, forced expiratory volume in 1 second/forced vital capacity ratio —
PPM021377 PGS000740
(PRS128_LC)
 PSS011713|
European Ancestry|
1,915 individuals
 PGP000646 |
Trendowski MR et al. Cancer Epidemiol Biomarkers Prev (2023)
|Ext.		 Reported Trait: Lung cancer OR: 1.16 [1.04, 1.29] — — Age, sex, pack-years, history of COPD, family history of lung cancer, 5 PCs Only 80 of 128 SNPs were available for analysis
PPM021378 PGS000740
(PRS128_LC)
 PSS011712|
African Ancestry|
1,123 individuals
 PGP000646 |
Trendowski MR et al. Cancer Epidemiol Biomarkers Prev (2023)
|Ext.		 Reported Trait: Lung cancer OR: 0.99 [0.85, 1.15] — — Age, sex, pack-years, history of COPD, family history of lung cancer, 5 PCs Only 80 of 128 SNPs were available for analysis
PPM002060 PGS000789
(CC_Lung_IV)
 PSS001017|
European Ancestry|
392,539 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Reported Trait: Incident lung cancer HR: 1.17 [1.12, 1.23] AUROC: 0.846
C-index: 0.849 (0.006)		 R²: 0.799 Age at assessment, sex, genotyping array, PCs(1-15), family history of lung cancer, PM2.5 in 2010, cigarettes per day, years of smoking, smoking status (never vs. former vs. current), smoking status*cigarettes per day, smoking stutus*years of smoking C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM002072 PGS000789
(CC_Lung_IV)
 PSS001017|
European Ancestry|
392,539 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Reported Trait: Incident lung cancer — AUROC: 0.71
C-index: 0.711 (0.007)		 R²: 0.322 Age, sex, genotyping array, PCs(1-15) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM002073 PGS000789
(CC_Lung_IV)
 PSS001017|
European Ancestry|
392,539 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Reported Trait: Incident lung cancer in never smokers — AUROC: 0.723
C-index: 0.723 (0.02)		 R²: 0.354 Age, sex, genotyping array, PCs(1-15), family history of lung cancer, PM2.5 level in 2010 C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM002074 PGS000789
(CC_Lung_IV)
 PSS001017|
European Ancestry|
392,539 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Reported Trait: Incident lung cancer in smokers — AUROC: 0.808
C-index: 0.809 (0.007)		 R²: 0.657 Age, sex, genotyping array, PCs(1-15), family history of lung cancer, PM2.5 level in 2010, cigarettes per day, years of smoking, smoking status (former vs. current), years since quitting, (smoking status)*(cigarettes per day), (smoking status*years of smoking) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM002521 PGS000880
(PRS18_LC)
 PSS001139|
European Ancestry|
382,598 individuals
 PGP000226 |
Xie J et al. Sleep (2021)
 Reported Trait: Incident lung cancer HR: 1.2 [1.15, 1.26] — — Sex, education (college or uni- versity degree/vocational qualification, other qualification), smoking status (never, former, current), pack-years, alcohol in- take (nondrinker, <1, 1-10, 10-20, ≥20 g/day), physical activity (Metabolic Equivalent Task hours per week, MET-h/week), and body mass index (BMI, kg/m2) —
PPM012923 PGS002270
(PRS33_LC)
 PSS009619|
European Ancestry|
345,794 individuals
 PGP000300 |
Zhang P et al. Br J Cancer (2022)
 Reported Trait: Incident lung cancer HR: 1.16 [1.11, 1.22] — — Age, sex, education, Townsend deprivation index, income, BMI, diet, physical activity, alcohol consumption, occupational exposure, passive smoking, relatedness and first 20 principal components of ancestry —
PPM020290 PGS002270
(PRS33_LC)
 PSS011324|
European Ancestry|
1,202 individuals
 PGP000539 |
Lebrett MB et al. Genet Med (2023)
|Ext.		 Reported Trait: Lung cancer — AUROC: 0.725 [0.697, 0.754] — Age, sex, current smoking status, BMI, forced expiratory volume in 1 second/forced vital capacity ratio —
PPM015574 PGS002808
(PGS20_LC)
 PSS009988|
European Ancestry|
450,821 individuals
 PGP000387 |
Qin N et al. Lancet Oncol (2022)
 Reported Trait: Lung cancer — — Hazard ratio (HR, high vs low risk): 1.48 [1.31, 1.68] — —
PPM015576 PGS002808
(PGS20_LC)
 PSS009988|
European Ancestry|
450,821 individuals
 PGP000387 |
Qin N et al. Lancet Oncol (2022)
 Reported Trait: Lung cancer x autosomal mosaic loss abnormalities interaction HR: 1.95 [1.02, 3.7] — — — —
PPM016266 PGS003391
(best_LUCA)
 PSS010081|
European Ancestry|
271,540 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: lung cancer — AUROC: 0.729 R²: 0.00135 age, sex, top 20 genetic principal components —
PPM016267 PGS003392
(best_LUSC)
 PSS010082|
European Ancestry|
270,054 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: lung squamous cell carcinoma — AUROC: 0.778 R²: 0.00075 age, sex, top 20 genetic principal components —
PPM016268 PGS003393
(best_LUAD)
 PSS010080|
European Ancestry|
270,412 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: lung adenocarcinoma — AUROC: 0.743 R²: 0.00649 age, sex, top 20 genetic principal components —
PPM020095 PGS004164
(PRS16_LC)
 PSS011294|
East Asian Ancestry|
55,266 individuals
 PGP000518 |
Wei X et al. Int J Cancer (2023)
 Reported Trait: Lung cancer in never smokers HR: 1.28 [1.17, 1.4] — — age, education, BMI, COPD history, personal history of cancer, family history of cancer, and the first 10 principal components of ancestry —
PPM020096 PGS004165
(PRS21_LC)
 PSS011294|
East Asian Ancestry|
55,266 individuals
 PGP000518 |
Wei X et al. Int J Cancer (2023)
 Reported Trait: Lung cancer in never smokers HR: 1.29 [1.18, 1.41] — — age, education, BMI, COPD history, personal history of cancer, family history of cancer, and the first 10 principal components of ancestry —
PPM020097 PGS004165
(PRS21_LC)
 PSS011294|
East Asian Ancestry|
55,266 individuals
 PGP000518 |
Wei X et al. Int J Cancer (2023)
 Reported Trait: Incident lung cancer in never smokers — — Hazard ratio (HR, high vs low risk): 2.09 [1.56, 2.8] age, first 10 principal components of ancestry, MI, education, COPD history, personal history of cancer and family history of cancer —
PPM020311 PGS004246
(PRS43_lung)
 PSS011329|
European Ancestry|
115,207 individuals
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Reported Trait: Lung cancer HR: 1.2 [1.11, 1.3] — — first 10 genetic principal components —
PPM020303 PGS004246
(PRS43_lung)
 PSS011328|
European Ancestry|
133,830 individuals
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Reported Trait: Lung cancer HR: 1.18 [1.08, 1.28] — — first 10 genetic principal components —
PPM020438 PGS004325
(GRS19_LC)
 PSS011362|
European Ancestry|
308,490 individuals
 PGP000559 |
Wang Y et al. Front Physiol (2023)
 Reported Trait: Lung carcinogenesis (in smokers) — — Hazard ratio (HR, highest PRS quintile and heavy smokers vs lowest PRS quintile and never smokers): 4.63 [3.0, 7.13] Education, sex, genotype array, and the first ten important components —
PPM020439 PGS004325
(GRS19_LC)
 PSS011362|
European Ancestry|
308,490 individuals
 PGP000559 |
Wang Y et al. Front Physiol (2023)
 Reported Trait: Lung carcinogenesis — — Hazard ratio (HR, highest vs lowest PRS quintiles): 1.58 [1.21, 2.08] Education, sex, genotype array, the first ten primary components, quit time for smokers only, and pack-years for smokers —
PPM020557 PGS004442
(disease.C34.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: C34 (Malignant neoplasm of bronchus and lung) OR: 1.16807 — — — —
PPM020627 PGS004512
(meta.C34.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: C34 (Malignant neoplasm of bronchus and lung) OR: 1.31649 — — — —
PPM020876 PGS004691
(lung_cancer)
 PSS011435|
European Ancestry|
40,850 individuals
 PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
 Reported Trait: Lung cancer — AUROC: 0.6178 — — —
PPM021091 PGS004860
(Genome-wide-PRS)
 PSS011520|
European Ancestry|
24,012 individuals
 PGP000607 |
Boumtje V et al. EBioMedicine (2024)
 Reported Trait: Incident lung cancer OR: 1.33 AUROC: 0.893 [0.887, 0.898] R²: 0.49 Sex, age,BMI, smocking status(ever or never smoker), and the first 10 ancestry-based PCA —
PPM021245 PGS004884
(INTERVENE_MegaPRS_Lung_cancer)
 PSS011607|
European Ancestry|
38,448 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident lung cancer HR: 1.13 [1.07, 1.19] C-index: 0.54 [0.52, 0.56] — PCs 1-10 —
PPM021246 PGS004884
(INTERVENE_MegaPRS_Lung_cancer)
 PSS011606|
European Ancestry|
69,715 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident lung cancer HR: 1.32 [1.24, 1.4] C-index: 0.59 [0.57, 0.61] — PCs 1-10 —
PPM021247 PGS004884
(INTERVENE_MegaPRS_Lung_cancer)
 PSS011605|
European Ancestry|
29,427 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident lung cancer HR: 1.26 [1.2, 1.33] C-index: 0.6 [0.58, 0.62] — PCs 1-10 —
PPM021248 PGS004884
(INTERVENE_MegaPRS_Lung_cancer)
 PSS011603|
European Ancestry|
44,187 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident lung cancer HR: 1.43 [1.06, 1.93] — — PCs 1-10 —
PPM021249 PGS004884
(INTERVENE_MegaPRS_Lung_cancer)
 PSS011604|
European Ancestry|
7,018 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident lung cancer HR: 1.21 [1.03, 1.41] C-index: 0.62 [0.57, 0.67] — PCs 1-10 —
PPM021250 PGS004884
(INTERVENE_MegaPRS_Lung_cancer)
 PSS011602|
European Ancestry|
277,400 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident lung cancer HR: 1.24 [1.2, 1.28] C-index: 0.62 [0.61, 0.63] — PCs 1-10 —
PPM021251 PGS004884
(INTERVENE_MegaPRS_Lung_cancer)
 PSS011601|
European Ancestry|
199,868 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident lung cancer HR: 1.08 [1.01, 1.16] C-index: 0.57 [0.54, 0.59] — PCs 1-10 —
PPM021775 PGS004955
(PRS23)
 PSS011794|
European Ancestry|
406,880 individuals
 PGP000678 |
Zhu M et al. Int J Epidemiol (2023)
 Reported Trait: Incident lung cancer HR: 1.24 [1.19, 1.29] — — Age, sex, smoking status, BMI, highest education level, family history of cancer, personal medical history (previous cancer diagnoses and chronic obstructive pulmonary disease), the forced expiratory volume in 1 second, 10 PCs —

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
PSS001139 Cases were individuals with lung cancer. Lung cancer cases were ascertained through record linkage to the National Health Service central registries and death registries. The endpoint was identified using ICD-10 (International Classification of Diseases, 10th revision) codes (C33 and C34). —
[
  • 1,791 cases
  • , 380,807 controls
]
 — European — UKB —
PSS011328 — — 133,830 individuals,
0.0 % Male samples
 — European
(British)		 — UKB —
PSS011329 — — 115,207 individuals,
100.0 % Male samples
 — European
(British)		 — UKB —
PSS011435 — —
[
  • 439 cases
  • , 40,411 controls
]
 — European — UKB —
PSS011294 — — 55,266 individuals,
0.0 % Male samples
 — East Asian — CKB —
PSS011604 — —
[
  • 162 cases
  • , 6,856 controls
]
 — European — GS:SFHS —
PSS011835 — Median = 10.7 years
[
  • 48 cases
  • , 1,042 controls
]
,
0.0 % Male samples
 — East Asian
(Chinese)		 — TPMI —
PSS011836 — Median = 10.0 years
[
  • 30 cases
  • , 1,167 controls
]
,
100.0 % Male samples
 — East Asian
(Chinese)		 — TPMI —
PSS011607 — —
[
  • 1,375 cases
  • , 37,073 controls
]
 — European — MGBB —
PSS011712 — —
[
  • 558 cases
  • , 565 controls
]
,
43.5 % Male samples
 — African unspecified — INHALE —
PSS011793 — —
[
  • 1,392 cases
  • , 99,223 controls
]
 — East Asian
(Chinese)		 — CKB —
PSS011713 — —
[
  • 1,103 cases
  • , 812 controls
]
,
47.2 % Male samples
 — European — INHALE —
PSS000912 Cases are individuals with a lung cancer diagnosis. Lung cancer diagnosis was obtained through record linkage with death and cancer registries with the follow‐up time up to date of death, lung cancer diagnosis, or March 31, 2016 (in England and Wales) and Oct 31, 2015 (in Scotland) per censor date defined by UKB. To minimize the possibility of including lung cancer metastasis, we excluded lung cancer that occurred within 5 years of different primary cancer. —
[
  • 1,768 cases
  • , 50,772 controls
]
,
46.28 % Male samples
 — European — UKB —
PSS000913 — — 167,955 individuals — European — UKB —
PSS000914 — — 67,186 individuals — European — UKB —
PSS000915 Cases are individuals with a lung cancer diagnosis. Lung cancer diagnosis was obtained through record linkage with death and cancer registries with the follow‐up time up to date of death, lung cancer diagnosis, or March 31, 2016 (in England and Wales) and Oct 31, 2015 (in Scotland) per censor date defined by UKB. To minimize the possibility of including lung cancer metastasis, we excluded lung cancer that occurred within 5 years of different primary cancer. —
[
  • 180 cases
  • , 5,311 controls
]
 — European — UKB —
PSS000916 Cases are individuals with a lung cancer diagnosis. Lung cancer diagnosis was obtained through record linkage with death and cancer registries with the follow‐up time up to date of death, lung cancer diagnosis, or March 31, 2016 (in England and Wales) and Oct 31, 2015 (in Scotland) per censor date defined by UKB. To minimize the possibility of including lung cancer metastasis, we excluded lung cancer that occurred within 5 years of different primary cancer. —
[
  • 387 cases
  • , 42,153 controls
]
 — European — UKB —
PSS000917 Cases are individuals with a lung cancer diagnosis. Lung cancer diagnosis was obtained through record linkage with death and cancer registries with the follow‐up time up to date of death, lung cancer diagnosis, or March 31, 2016 (in England and Wales) and Oct 31, 2015 (in Scotland) per censor date defined by UKB. To minimize the possibility of including lung cancer metastasis, we excluded lung cancer that occurred within 5 years of different primary cancer. —
[
  • 1,581 cases
  • , 328,465 controls
]
 — European — UKB —
PSS000918 Cases are individuals with a lung cancer diagnosis. Lung cancer diagnosis was obtained through record linkage with death and cancer registries with the follow‐up time up to date of death, lung cancer diagnosis, or March 31, 2016 (in England and Wales) and Oct 31, 2015 (in Scotland) per censor date defined by UKB. To minimize the possibility of including lung cancer metastasis, we excluded lung cancer that occurred within 5 years of different primary cancer. —
[
  • 1,323 cases
  • , 286,297 controls
]
 — European — UKB —
PSS000919 Cases are individuals with a lung cancer diagnosis. Lung cancer diagnosis was obtained through record linkage with death and cancer registries with the follow‐up time up to date of death, lung cancer diagnosis, or March 31, 2016 (in England and Wales) and Oct 31, 2015 (in Scotland) per censor date defined by UKB. To minimize the possibility of including lung cancer metastasis, we excluded lung cancer that occurred within 5 years of different primary cancer. —
[
  • 724 cases
  • , 33,226 controls
]
 — European — UKB —
PSS000920 Cases are individuals with a lung cancer diagnosis. Lung cancer diagnosis was obtained through record linkage with death and cancer registries with the follow‐up time up to date of death, lung cancer diagnosis, or March 31, 2016 (in England and Wales) and Oct 31, 2015 (in Scotland) per censor date defined by UKB. To minimize the possibility of including lung cancer metastasis, we excluded lung cancer that occurred within 5 years of different primary cancer. —
[
  • 808 cases
  • , 117,502 controls
]
 — European — UKB —
PSS000921 Cases are individuals with a lung cancer diagnosis. Lung cancer diagnosis was obtained through record linkage with death and cancer registries with the follow‐up time up to date of death, lung cancer diagnosis, or March 31, 2016 (in England and Wales) and Oct 31, 2015 (in Scotland) per censor date defined by UKB. To minimize the possibility of including lung cancer metastasis, we excluded lung cancer that occurred within 5 years of different primary cancer. —
[
  • 236 cases
  • , 183,435 controls
]
 — European — UKB —
PSS000857 Data and diagnoses on site-specific incident cancers were provided by the National Health Service Information Centre for participants from England and Wales (follow-up through March 31, 2016) and by the NHS Central Register Scotland for participants from Scotland (follow-up through October 31, 2015). Cancers were coded by the International Classification of Diseases, Ninth Revision (ICD-9) or the International Classification of Diseases, Tenth Revision (ICD-10). Lung cancer=(ICD-9 = 162.2–162.9 or ICD-10 = C34). Median = 5.8 years
[
  • 1,508 cases
  • , 399,304 controls
]
,
46.5 % Male samples
 — European — UKB —
PSS010080 C34, histology was one of the followings: Squamous cell carcinoma; Squamous cell carcinoma, keratinizing; Squamous cell carcinoma, large cell, non-keratinizing; Squamous cell carcinoma, micro-invasive; Squamous cell carcinoma, small cell, non-keratinizing —
[
  • 868 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010081 C34 —
[
  • 1,996 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010082 C34, histology was one of the followings: Adenocarcinoma, intestinal type; Adenocarcinoma in tubulovillous adenoma; Adenocarcinoma in villous adenoma; Adenocarcinoma (NOS) —
[
  • 510 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS011072 — — 181 individuals,
0.0 % Male samples
 Median = 59.0 years
IQR = [55.0, 64.0] years		 East Asian
(Chinese)		 — SCHS —
PSS011073 — — 381 individuals,
100.0 % Male samples
 Median = 60.0 years
IQR = [55.0, 64.0] years		 East Asian
(Chinese)		 — SCHS —
PSS010146 — —
[
  • 104 cases
  • , 1,152 controls
]
 — European — UKB —
PSS000276 Primary tumor samples from TCGA —
[
  • 908 cases
  • , 0 controls
]
 Mean = 67.0 years
Sd = 9.0 years		 European — TCGA —
PSS000276 — —
[
  • 0 cases
  • , 13,427 controls
]
 — European — eMERGE —
PSS011362 — —
[
  • 1,449 cases
  • , 307,041 controls
]
,
47.0 % Male samples
 — European — UKB —
PSS011520 Lung cancer diagnosis was confirmed by pathological examination using resected specimens. —
[
  • 4,002 cases
  • , 20,010 controls
]
,
45.72 % Male samples
 Mean = 59.65 years European
(French cancadian)		 — CARTaGENE, LORD CARTaGENE data application number 890519
PSS011364 — — 56,192 individuals — European — UKB —
PSS009987 — —
[
  • 10,248 cases
  • , 9,298 controls
]
,
63.0 % Male samples
 — East Asian
(Chinese)		 — NR NJLCC
PSS009988 — —
[
  • 2,088 cases
  • , 448,733 controls
]
,
46.0 % Male samples
 — European — UKB —
PSS011794 — —
[
  • 2,025 cases
  • , 404,855 controls
]
 — European — UKB —
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 —
PSS011602 — —
[
  • 4,018 cases
  • , 273,382 controls
]
 — European — FinnGen —
PSS001017 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. 207 of the cases were in non-smokers and 1334 were in smokers. —
[
  • 1,541 cases
  • , 390,998 controls
]
 — European — UKB —
PSS009619 — —
[
  • 1,687 cases
  • , 344,107 controls
]
,
44.1 % Male samples
 Mean = 56.3 years
Sd = 8.0 years		 European — UKB —
PSS011605 — —
[
  • 1,388 cases
  • , 28,039 controls
]
 — European — GEL —
PSS011606 — —
[
  • 962 cases
  • , 68,753 controls
]
 — European — HUNT —
PSS011324 — —
[
  • 652 cases
  • , 550 controls
]
,
47.0 % Male samples
 Median = 65.0 years European — MCRC —
PSS011603 — —
[
  • 44 cases
  • , 44,143 controls
]
 — European — G&H —
PSS011601 — —
[
  • 798 cases
  • , 199,070 controls
]
 — European — EB —
PSS000117 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): 22030 —
[
  • 2,488 cases
  • , 410,354 controls
]
,
46.0 % Male samples
 Mean = 58.0 years European — GERA, UKB —