Experimental Factor Ontology (EFO) Information | |
Identifier | EFO_0001071 |
Description | A carcinoma that arises from epithelial cells of the lung [MONDO: DesignPattern] | Trait category |
Cancer
|
Synonyms |
7 synonyms
|
Mapped terms |
8 mapped terms
|
Child trait(s) | 2 child traits |
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 |
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 | — |
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). | — | [
|
— | 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 | — | — | [
|
— | European | — | UKB | — |
PSS011294 | — | — | 55,266 individuals, 0.0 % Male samples |
— | East Asian | — | CKB | — |
PSS011604 | — | — | [
|
— | European | — | GS:SFHS | — |
PSS011835 | — | Median = 10.7 years | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | TPMI | — |
PSS011836 | — | Median = 10.0 years | [ ,
100.0 % Male samples |
— | East Asian (Chinese) |
— | TPMI | — |
PSS011607 | — | — | [
|
— | European | — | MGBB | — |
PSS011712 | — | — | [ ,
43.5 % Male samples |
— | African unspecified | — | INHALE | — |
PSS011793 | — | — | [
|
— | East Asian (Chinese) |
— | CKB | — |
PSS011713 | — | — | [ ,
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. | — | [ ,
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. | — | [
|
— | 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. | — | [
|
— | 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. | — | [
|
— | 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. | — | [
|
— | 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. | — | [
|
— | 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. | — | [
|
— | 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. | — | [
|
— | 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 | [ ,
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 | — | [
|
— | European (British) |
— | UKB | Controls were samples without any cancer diagnosis or self-reported cancer |
PSS010081 | C34 | — | [
|
— | 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) | — | [
|
— | 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 | — | — | [
|
— | European | — | UKB | — |
PSS000276 | Primary tumor samples from TCGA | — | [
|
Mean = 67.0 years Sd = 9.0 years |
European | — | TCGA | — |
PSS000276 | — | — | [
|
— | European | — | eMERGE | — |
PSS011362 | — | — | [ ,
47.0 % Male samples |
— | European | — | UKB | — |
PSS011520 | Lung cancer diagnosis was confirmed by pathological examination using resected specimens. | — | [ ,
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 | — | — | [ ,
63.0 % Male samples |
— | East Asian (Chinese) |
— | NR | NJLCC |
PSS009988 | — | — | [ ,
46.0 % Male samples |
— | European | — | UKB | — |
PSS011794 | — | — | [
|
— | 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 | [ ,
42.93 % Male samples |
Mean = 53.67 years Se = 10.98 years |
East Asian (Chinese) |
— | CKB | — |
PSS011602 | — | — | [
|
— | 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. | — | [
|
— | European | — | UKB | — |
PSS009619 | — | — | [ ,
44.1 % Male samples |
Mean = 56.3 years Sd = 8.0 years |
European | — | UKB | — |
PSS011605 | — | — | [
|
— | European | — | GEL | — |
PSS011606 | — | — | [
|
— | European | — | HUNT | — |
PSS011324 | — | — | [ ,
47.0 % Male samples |
Median = 65.0 years | European | — | MCRC | — |
PSS011603 | — | — | [
|
— | European | — | G&H | — |
PSS011601 | — | — | [
|
— | 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 | — | [ ,
46.0 % Male samples |
Mean = 58.0 years | European | — | GERA, UKB | — |