Trait: testicular carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0005088
Description A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma. [NCIT: C7251]
Trait category
Cancer
Synonyms 11 synonyms
  • cancer of testis
  • malignant neoplasm of testis
  • malignant neoplasm of the testis
  • malignant testicular neoplasm
  • malignant testicular tumor
  • malignant testis neoplasm
  • malignant tumor of testis
  • malignant tumor of the testis
  • neoplasm of testis
  • testicular cancer
  • testis cancer
Mapped term(s) 11 mapped terms
  • DOID:2998
  • GARD:0007746
  • ICD10:C62
  • ICD10:C62.9
  • ICD10:C62.90
  • ICD9:186
  • ICD9:186.9
  • MESH:D013736
  • MONDO:0005447
  • NCIT:C7251
  • SCTID:363449006

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 PGS Scoring File (FTP Link)
PGS000086
(CC_Testis)
PGP000050 |
Graff RE et al. bioRxiv (2020)
|Pre
Testicular cancer testicular carcinoma,
Testicular Germ Cell Tumor
52
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000086/ScoringFiles/PGS000086.txt.gz
PGS000595
(PRSWEB_PHECODE187.2_20001-1045_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of testis testicular carcinoma 9
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000595/ScoringFiles/PGS000595.txt.gz
PGS000596
(PRSWEB_PHECODE187.2_20001-1045_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of testis testicular carcinoma 5
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000596/ScoringFiles/PGS000596.txt.gz
PGS000597
(PRSWEB_PHECODE187.2_20001-1045_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of testis testicular carcinoma 771
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000597/ScoringFiles/PGS000597.txt.gz
PGS000598
(PRSWEB_PHECODE187.2_C3-TESTIS_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of testis testicular carcinoma 6
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000598/ScoringFiles/PGS000598.txt.gz
PGS000599
(PRSWEB_PHECODE187.2_C3-TESTIS_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of testis testicular carcinoma 31
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000599/ScoringFiles/PGS000599.txt.gz
PGS000600
(PRSWEB_PHECODE187.2_C3-TESTIS_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of testis testicular carcinoma 250
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000600/ScoringFiles/PGS000600.txt.gz
PGS000601
(PRSWEB_PHECODE187.2_GWAS-Catalog-r2019-05-03-X187.2_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of testis testicular carcinoma 40
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000601/ScoringFiles/PGS000601.txt.gz
PGS000602
(PRSWEB_PHECODE187.2_GWAS-Catalog-r2019-05-03-X187.2_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of testis testicular carcinoma 40
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000602/ScoringFiles/PGS000602.txt.gz
PGS000603
(PRSWEB_PHECODE187.2_GWAS-Catalog-r2019-05-03-X187.2_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of testis testicular carcinoma 22
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000603/ScoringFiles/PGS000603.txt.gz
PGS000604
(PRSWEB_PHECODE187.2_GWAS-Catalog-r2019-05-03-X187.2_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of testis testicular carcinoma 44
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000604/ScoringFiles/PGS000604.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
PPM000206 PGS000086
(CC_Testis)
PSS000125|
European Ancestry|
170,680 individuals
PGP000050 |
Graff RE et al. bioRxiv (2020)
|Pre
Reported Trait: Testicular cancer OR: 2.29 [2.13, 2.47] Genotyping array, age, 10 PCs.
PPM001282 PGS000597
(PRSWEB_PHECODE187.2_20001-1045_LASSOSUM_MGI_20200608)
PSS000553|
European Ancestry|
755 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of testis OR: 1.667 [1.296, 2.143]
β: 0.511 (0.128)
AUROC: 0.656 [0.593, 0.717] Nagelkerke's Pseudo-R²: 0.0487
Brier score: 0.084
Odds Ratio (OR, top 1% vs. Rest): 2.72 [0.568, 13.1]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE187.2_20001-1045_LASSOSUM_MGI_20200608
PPM001285 PGS000600
(PRSWEB_PHECODE187.2_C3-TESTIS_LASSOSUM_MGI_20200608)
PSS000553|
European Ancestry|
755 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of testis OR: 1.619 [1.267, 2.067]
β: 0.482 (0.125)
AUROC: 0.636 [0.565, 0.698] Nagelkerke's Pseudo-R²: 0.046
Brier score: 0.0839
Odds Ratio (OR, top 1% vs. Rest): 6.35 [1.81, 22.3]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE187.2_C3-TESTIS_LASSOSUM_MGI_20200608
PPM001288 PGS000603
(PRSWEB_PHECODE187.2_GWAS-Catalog-r2019-05-03-X187.2_PT_MGI_20200608)
PSS000553|
European Ancestry|
755 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of testis OR: 1.625 [1.27, 2.079]
β: 0.485 (0.126)
AUROC: 0.625 [0.557, 0.693] Nagelkerke's Pseudo-R²: 0.044
Brier score: 0.084
Odds Ratio (OR, top 1% vs. Rest): 6.05 [1.73, 21.2]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE187.2_GWAS-Catalog-r2019-05-03-X187.2_PT_MGI_20200608
PPM001280 PGS000595
(PRSWEB_PHECODE187.2_20001-1045_P_5e-08_MGI_20200608)
PSS000553|
European Ancestry|
755 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of testis OR: 1.713 [1.33, 2.206]
β: 0.538 (0.129)
AUROC: 0.658 [0.594, 0.719] Nagelkerke's Pseudo-R²: 0.0543
Brier score: 0.0838
Odds Ratio (OR, top 1% vs. Rest): 2.64 [0.535, 13.0]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE187.2_20001-1045_P_5e-08_MGI_20200608
PPM001281 PGS000596
(PRSWEB_PHECODE187.2_20001-1045_PT_MGI_20200608)
PSS000553|
European Ancestry|
755 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of testis OR: 1.68 [1.28, 2.206]
β: 0.519 (0.139)
AUROC: 0.649 [0.586, 0.714] Nagelkerke's Pseudo-R²: 0.0475
Brier score: 0.0841
Odds Ratio (OR, top 1% vs. Rest): 3.49 [0.816, 14.9]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE187.2_20001-1045_PT_MGI_20200608
PPM001283 PGS000598
(PRSWEB_PHECODE187.2_C3-TESTIS_P_5e-08_MGI_20200608)
PSS000553|
European Ancestry|
755 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of testis OR: 1.639 [1.263, 2.126]
β: 0.494 (0.133)
AUROC: 0.648 [0.581, 0.712] Nagelkerke's Pseudo-R²: 0.0447
Brier score: 0.0841
Odds Ratio (OR, top 1% vs. Rest): 3.85 [0.942, 15.7]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE187.2_C3-TESTIS_P_5e-08_MGI_20200608
PPM001284 PGS000599
(PRSWEB_PHECODE187.2_C3-TESTIS_PT_MGI_20200608)
PSS000553|
European Ancestry|
755 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of testis OR: 1.628 [1.281, 2.069]
β: 0.487 (0.122)
AUROC: 0.637 [0.568, 0.703] Nagelkerke's Pseudo-R²: 0.0473
Brier score: 0.0844
Odds Ratio (OR, top 1% vs. Rest): 4.35 [1.08, 17.5]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE187.2_C3-TESTIS_PT_MGI_20200608
PPM001286 PGS000601
(PRSWEB_PHECODE187.2_GWAS-Catalog-r2019-05-03-X187.2_P_5e-08_MGI_20200608)
PSS000553|
European Ancestry|
755 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of testis OR: 1.438 [1.132, 1.827]
β: 0.363 (0.122)
AUROC: 0.598 [0.526, 0.672] Nagelkerke's Pseudo-R²: 0.0258
Brier score: 0.085
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE187.2_GWAS-Catalog-r2019-05-03-X187.2_P_5e-08_MGI_20200608
PPM001287 PGS000602
(PRSWEB_PHECODE187.2_GWAS-Catalog-r2019-05-03-X187.2_P_5e-08_UKB_20200608)
PSS000574|
European Ancestry|
1,484 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of testis OR: 2.055 [1.692, 2.496]
β: 0.72 (0.0993)
AUROC: 0.698 [0.656, 0.74] Nagelkerke's Pseudo-R²: 0.0839
Brier score: 0.0795
Odds Ratio (OR, top 1% vs. Rest): 4.6 [1.75, 12.1]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE187.2_GWAS-Catalog-r2019-05-03-X187.2_P_5e-08_UKB_20200608
PPM001289 PGS000604
(PRSWEB_PHECODE187.2_GWAS-Catalog-r2019-05-03-X187.2_PT_UKB_20200608)
PSS000574|
European Ancestry|
1,484 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of testis OR: 2.106 [1.729, 2.565]
β: 0.745 (0.101)
AUROC: 0.703 [0.659, 0.745] Brier score: 0.0793
Nagelkerke's Pseudo-R²: 0.0882
Odds Ratio (OR, top 1% vs. Rest): 4.6 [1.75, 12.1]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE187.2_GWAS-Catalog-r2019-05-03-X187.2_PT_UKB_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
PSS000574 PheCode:187.2; ICD9:186, 186.0, 186.9; ICD10:C62.0, C62.1, C62.9
[
  • 135 cases
  • , 1,349 controls
]
European UKB
PSS000125 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): 28020
[
  • 713 cases
  • , 169,967 controls
]
,
100.0 % Male samples
European UKB
PSS000553 PheCode:187.2; ICD9CM:186.0, 186.9, V10.47; ICD10CM:C62, C62.0, C62.00, C62.01, C62.02, C62.1, C62.10, C62.11, C62.12, C62.9, C62.90, C62.91, C62.92
[
  • 73 cases
  • , 682 controls
]
European MGI