Trait: tracheal cancer

Trait Information
Identifier MONDO_0001407
Description A malignant neoplasm involving the trachea
Trait category
Cancer
Synonyms 16 synonyms
  • Ca trachea
  • cancer of trachea
  • malignant neoplasm of the trachea
  • malignant neoplasm of trachea
  • malignant trachea neoplasm
  • malignant trachea tumor
  • malignant trachea tumour
  • malignant tracheal neoplasm
  • malignant tracheal tumor
  • malignant tracheal tumour
  • malignant tumor of the trachea
  • malignant tumor of trachea
  • malignant tumour of the trachea
  • malignant tumour of trachea
  • trachea cancer
  • tracheal neoplasm
Mapped terms 7 mapped terms
  • DOID:11920
  • ICD10CM:C33
  • ICD9:162.0
  • MEDGEN:102274
  • NCIT:C9346
  • SCTID:363432004
  • UMLS:C0153489

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
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)
PGS000388
(PRSWEB_PHECODE165.1_C3-BRONCHUS-LUNG_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 1,109,069
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000388/ScoringFiles/PGS000388.txt.gz
PGS000389
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_P_5e-08_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 21
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000389/ScoringFiles/PGS000389.txt.gz
PGS000390
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_P_5e-08_UKB_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 21
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000390/ScoringFiles/PGS000390.txt.gz
PGS000391
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 14
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000391/ScoringFiles/PGS000391.txt.gz
PGS000392
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_UKB_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 19
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000392/ScoringFiles/PGS000392.txt.gz
PGS000393
(PRSWEB_PHECODE165.1_LUNG-CANCER_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 1,110,438
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000393/ScoringFiles/PGS000393.txt.gz
PGS000394
(PRSWEB_PHECODE165.1_LUNG-CANCER-MESOT_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 1,110,438
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000394/ScoringFiles/PGS000394.txt.gz
PGS000395
(PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 1,119,238
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000395/ScoringFiles/PGS000395.txt.gz
PGS000396
(PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_PT_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 75
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000396/ScoringFiles/PGS000396.txt.gz
PGS000397
(PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_LASSOSUM_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 46,920
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000397/ScoringFiles/PGS000397.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
PPM001073 PGS000388
(PRSWEB_PHECODE165.1_C3-BRONCHUS-LUNG_PRS-CS_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.132 [1.024, 1.25]
β: 0.124 (0.0508)		 AUROC: 0.533 [0.505, 0.562] Nagelkerke's Pseudo-R²: 0.00265
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 1.96 [0.926, 4.14]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_C3-BRONCHUS-LUNG_PRS-CS_MGI_20200608
PPM001074 PGS000389
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_P_5e-08_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.11 [1.006, 1.225]
β: 0.105 (0.0501)		 AUROC: 0.52 [0.492, 0.547] Nagelkerke's Pseudo-R²: 0.00202
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 2.19 [1.07, 4.49]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_P_5e-08_MGI_20200608
PPM001075 PGS000390
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_P_5e-08_UKB_20200608)
 PSS000566|
European Ancestry|
12,201 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.194 [1.124, 1.269]
β: 0.178 (0.0309)		 AUROC: 0.543 [0.526, 0.562] Nagelkerke's Pseudo-R²: 0.00583
Brier score: 0.0824
Odds Ratio (OR, top 1% vs. Rest): 0.852 [0.437, 1.66]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_P_5e-08_UKB_20200608
PPM001076 PGS000391
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.12 [1.015, 1.237]
β: 0.114 (0.0507)		 AUROC: 0.529 [0.503, 0.558] Nagelkerke's Pseudo-R²: 0.00234
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 1.75 [0.796, 3.85]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_MGI_20200608
PPM020287 PGS000391
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_MGI_20200608)
 PSS011324|
European Ancestry|
1,202 individuals
 PGP000539 |
Lebrett MB et al. Genet Med (2023)
|Ext.		 Reported Trait: Lung cancer — AUROC: 0.731 [0.703, 0.759] — Age, sex, current smoking status, BMI, forced expiratory volume in 1 second/forced vital capacity ratio —
PPM001077 PGS000392
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_UKB_20200608)
 PSS000566|
European Ancestry|
12,201 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.221 [1.149, 1.298]
β: 0.2 (0.0313)		 AUROC: 0.552 [0.534, 0.569] Nagelkerke's Pseudo-R²: 0.00728
Brier score: 0.0824
Odds Ratio (OR, top 1% vs. Rest): 1.94 [1.22, 3.1]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_UKB_20200608
PPM020288 PGS000392
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_UKB_20200608)
 PSS011324|
European Ancestry|
1,202 individuals
 PGP000539 |
Lebrett MB et al. Genet Med (2023)
|Ext.		 Reported Trait: Lung cancer — AUROC: 0.733 [0.705, 0.761] — Age, sex, current smoking status, BMI, forced expiratory volume in 1 second/forced vital capacity ratio —
PPM001078 PGS000393
(PRSWEB_PHECODE165.1_LUNG-CANCER_PRS-CS_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.149 [1.04, 1.269]
β: 0.139 (0.0509)		 AUROC: 0.539 [0.508, 0.568] Nagelkerke's Pseudo-R²: 0.00329
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 2.18 [1.06, 4.46]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_LUNG-CANCER_PRS-CS_MGI_20200608
PPM001079 PGS000394
(PRSWEB_PHECODE165.1_LUNG-CANCER-MESOT_PRS-CS_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.149 [1.04, 1.269]
β: 0.139 (0.0509)		 AUROC: 0.539 [0.508, 0.568] Nagelkerke's Pseudo-R²: 0.00329
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 2.18 [1.06, 4.46]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_LUNG-CANCER-MESOT_PRS-CS_MGI_20200608
PPM001080 PGS000395
(PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_PRS-CS_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.133 [1.025, 1.252]
β: 0.125 (0.051)		 AUROC: 0.533 [0.505, 0.562] Nagelkerke's Pseudo-R²: 0.00277
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 1.27 [0.514, 3.12]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_PRS-CS_MGI_20200608
PPM001081 PGS000396
(PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_PT_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.121 [1.015, 1.238]
β: 0.114 (0.0507)		 AUROC: 0.525 [0.496, 0.554] Nagelkerke's Pseudo-R²: 0.00233
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 2.21 [1.08, 4.51]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_PT_MGI_20200608
PPM001082 PGS000397
(PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_LASSOSUM_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.114 [1.009, 1.23]
β: 0.108 (0.0507)		 AUROC: 0.528 [0.503, 0.556] Nagelkerke's Pseudo-R²: 0.00202
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 1.03 [0.387, 2.77]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_LASSOSUM_MGI_20200608

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
PSS011324 — —
[
  • 652 cases
  • , 550 controls
]
,
47.0 % Male samples
 Median = 65.0 years European — MCRC —
PSS000541 PheCode:165.1; ICD9CM:162.0, 162.2, 162.3, 162.4, 162.5, 162.8, 162.9, 209.21, 231.2, V10.11; ICD10CM:C33, C34, C34.0, C34.00, C34.01, C34.02, C34.1, C34.10, C34.11, C34.12, C34.2, C34.3, C34.30, C34.31, C34.32, C34.8, C34.80, C34.81, C34.82, C34.9, C34.90, C34.91, C34.92, C7A.090, D02.2, D02.20, D02.21, D02.22 —
[
  • 428 cases
  • , 4,270 controls
]
 — European — MGI —
PSS000566 PheCode:165.1; ICD9:162, 162.0, 162.2, 162.3, 162.4, 162.5, 162.8, 162.9, 231.2; ICD10:C33, C34.0, C34.1, C34.2, C34.3, C34.8, C34.9, D02.2 —
[
  • 1,109 cases
  • , 11,092 controls
]
 — European — UKB —