Trait: renal carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0002890
Description A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. [NCIT: C9384]
Trait category
Cancer
Synonyms 11 synonyms
  • carcinoma of kidney
  • kidney (including renal cell) cancer
  • kidney (including renal cell) cancer
  • kidney (renal) cancer
  • kidney (renal) cancer
  • kidney cancer
  • kidney cancer
  • kidney carcinoma
  • renal cancer
  • renal cancer
  • renal carcinoma
Mapped terms 10 mapped terms
  • DOID:4451
  • EFO:0002890
  • MEDGEN:235133
  • MONDO:0005206
  • MedDRA:10007404
  • MedDRA:10023406
  • NCIT:C9384
  • OMIM:144700
  • UMLS:C1378703
  • icd11.foundation:1075394530
Child trait(s) renal cell carcinoma

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 "renal 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)
PGS000076
(CC_Kidney)
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Kidney cancer renal cell carcinoma 19
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000076/ScoringFiles/PGS000076.txt.gz
PGS000161
(cGRS_Renal)
 PGP000075 |
Shi Z et al. Cancer Med (2019)
 Renal cancer renal carcinoma 10
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000161/ScoringFiles/PGS000161.txt.gz
PGS000722
(PRS_Kidney)
 PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
 Kidney cancer renal carcinoma 15
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000722/ScoringFiles/PGS000722.txt.gz
PGS000787
(CC_Kidney_IV)
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Kidney cancer renal cell carcinoma 19
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000787/ScoringFiles/PGS000787.txt.gz
PGS003744
(PRS14_RC)
 PGP000470 |
Xin J et al. EBioMedicine (2023)
 Renal cancer renal carcinoma 14
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003744/ScoringFiles/PGS003744.txt.gz
PGS004245
(PRS12_kidney)
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Kidney cancer renal cell carcinoma 12
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004245/ScoringFiles/PGS004245.txt.gz
PGS004690
(kidney_cancer)
 PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
 Kidney cancer renal carcinoma 6,351,669
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004690/ScoringFiles/PGS004690.txt.gz
PGS004908
(PRS107_KC)
 PGP000640 |
Purdue MP et al. Nat Genet (2024)
 Kidney cancer renal carcinoma 107
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004908/ScoringFiles/PGS004908.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
PPM000196 PGS000076
(CC_Kidney)
 PSS000115|
European Ancestry|
411,695 individuals
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Reported Trait: Kidney cancer OR: 1.21 [1.14, 1.27] — — Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. Results from meta-analysis of GERA and UKB
PPM002042 PGS000076
(CC_Kidney)
 PSS001015|
European Ancestry|
391,610 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.		 Reported Trait: Incident kidney cancer HR: 1.16 [1.08, 1.26] AUROC: 0.722
C-index: 0.724 (0.011)		 — Age at assessment, sex, genotyping array, PCs(1-15), body mass index, smoking status (never vs. former vs. current), cigarette pack-years, ever diagnosed with hypertension C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM017169 PGS000076
(CC_Kidney)
 PSS010145|
European Ancestry|
547 individuals
 PGP000443 |
Byrne S et al. Int J Epidemiol (2023)
|Ext.		 Reported Trait: Kidney cancer HR: 1.14 [1.05, 1.24] — — 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 —
PPM000492 PGS000161
(cGRS_Renal)
 PSS000281|
European Ancestry|
13,880 individuals
 PGP000075 |
Shi Z et al. Cancer Med (2019)
 Reported Trait: Renal cancer — — Odds Ratio (OR; high vs. average risk groups): 1.58 [1.14, 2.18] — —
PPM000481 PGS000161
(cGRS_Renal)
 PSS000281|
European Ancestry|
13,880 individuals
 PGP000075 |
Shi Z et al. Cancer Med (2019)
 Reported Trait: Renal cancer — — Mean realative risk: 1.09 [1.06, 1.12]
Wilcoxon test (case vs. control) p-value: 8.66e-10		 — —
PPM001652 PGS000722
(PRS_Kidney)
 PSS000856|
European Ancestry|
400,812 individuals
 PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
 Reported Trait: Incident kidney cancer — AUROC: 0.567 [0.543, 0.591] — Genotyping array —
PPM002058 PGS000787
(CC_Kidney_IV)
 PSS001015|
European Ancestry|
391,610 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Reported Trait: Incident kidney cancer HR: 1.15 [1.07, 1.24] AUROC: 0.722
C-index: 0.723 (0.011)		 R²: 0.366 Age at assessment, sex, genotyping array, PCs(1-15), body mass index, smoking status (never vs. former vs. current), cigarette pack-years, ever diagnosed with hypertension C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM018500 PGS003744
(PRS14_RC)
 PSS010994|
European Ancestry|
692 individuals
 PGP000470 |
Xin J et al. EBioMedicine (2023)
 Reported Trait: Renal cancer OR: 1.24 [1.14, 1.35] — — — —
PPM020302 PGS004245
(PRS12_kidney)
 PSS011328|
European Ancestry|
133,830 individuals
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Reported Trait: Kidney cancer HR: 1.22 [1.02, 1.45] — — first 10 genetic principal components —
PPM020310 PGS004245
(PRS12_kidney)
 PSS011329|
European Ancestry|
115,207 individuals
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Reported Trait: Kidney cancer HR: 1.25 [1.1, 1.41] — — first 10 genetic principal components —
PPM020875 PGS004690
(kidney_cancer)
 PSS011434|
European Ancestry|
40,841 individuals
 PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
 Reported Trait: Kidney cancer — AUROC: 0.5644 — — —
PPM021361 PGS004908
(PRS107_KC)
 PSS011702|
European Ancestry|
324,805 individuals
 PGP000640 |
Purdue MP et al. Nat Genet (2024)
 Reported Trait: Kidney cancer OR: 1.5 [1.43, 1.58] AUROC: 0.74 [0.72, 0.75] — Age, sex, PCs, BMI, smoking, hypertension —
PPM021362 PGS004908
(PRS107_KC)
 PSS011702|
European Ancestry|
324,805 individuals
 PGP000640 |
Purdue MP et al. Nat Genet (2024)
 Reported Trait: Clear cell renal cell carcinoma OR: 1.69 [1.57, 1.81] AUROC: 0.74 [0.72, 0.76] — Age, sex, PCs, BMI, smoking, hypertension —

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
PSS000281 Primary tumor samples from TCGA —
[
  • 453 cases
  • , 0 controls
]
 Mean = 62.0 years
Sd = 12.0 years		 European — TCGA —
PSS000281 — —
[
  • 0 cases
  • , 13,427 controls
]
 — European — eMERGE —
PSS000856 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). Kidney Cancer=(ICD-9 = 189.0 or ICD-10 = C64) Median = 5.8 years
[
  • 545 cases
  • , 400,267 controls
]
,
46.5 % Male samples
 — European — UKB —
PSS011328 — — 133,830 individuals,
0.0 % Male samples
 — European
(British)		 — UKB —
PSS011329 — — 115,207 individuals,
100.0 % Male samples
 — European
(British)		 — UKB —
PSS010145 — —
[
  • 28 cases
  • , 519 controls
]
 — European — UKB —
PSS001015 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. —
[
  • 612 cases
  • , 390,998 controls
]
 — European — UKB —
PSS010994 — — 692 individuals Mean = 60.99 years European — TCGA —
PSS011434 — —
[
  • 158 cases
  • , 40,683 controls
]
 — European — UKB —
PSS000115 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): 29020 —
[
  • 1,341 cases
  • , 410,354 controls
]
,
46.0 % Male samples
 Mean = 58.0 years European — GERA, UKB —
PSS011702 — —
[
  • 1,696 cases
  • , 323,109 controls
]
 — European — UKB —