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
Synonyms 21 synonyms
  • Carcinoma, Hypernephroid
  • Carcinoma, Nephroid
  • Carcinomas, Hypernephroid
  • Carcinomas, Nephroid
  • Grawitz Tumor
  • Hypernephroid Carcinoma
  • Hypernephroid Carcinomas
  • Hypernephroma
  • Hypernephromas
  • Kidney Carcinoma
  • Nephroid Carcinoma
  • Nephroid Carcinomas
  • Renal Collecting Duct Carcinoma
  • Tumor, Grawitz
  • carcinoma of kidney
  • kidney (including renal cell) cancer
  • kidney (renal) cancer
  • kidney cancer
  • kidney carcinoma
  • renal cancer
  • renal carcinoma
Mapped term(s) 7 mapped terms
  • DOID:4451
  • MONDO:0005206
  • NCIT:C9384
  • NCIt:C9384
  • OMIM:144700
  • SNOMEDCT:188251003
  • UMLS:C1378703
Child trait(s) renal cell carcinoma

Associated Polygenic Score(s)

Note: This table shows all PGS for "renal carcinoma" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000076 CC_Kidney PGP000050
Graff RE et al. bioRxiv (2020)
Kidney cancer renal cell carcinoma 19
PGS000161 cGRS_Renal PGP000075
Shi Z et al. Cancer Med (2019)
Renal cancer renal carcinoma 10
PGS000722 PRS_Kidney PGP000135
Jia G et al. JNCI Cancer Spectr (2020)
Kidney cancer renal carcinoma 15

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
Evaluated Score PGS Sample Set ID
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000481 PGS000161
PSS000281 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
PPM000492 PGS000161
PSS000281 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]
PPM000196 PGS000076
PSS000115 PGP000050
Graff RE et al. bioRxiv (2020)
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
PPM001652 PGS000722
PSS000856 PGP000135
Jia G et al. JNCI Cancer Spectr (2020)
Reported Trait: Incident kidney cancer AUROC: 0.567 [0.543, 0.591] Genotyping array

Evaluated Samples

PGS Sample Set ID
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
  • 0 cases
  • , 13,427 controls
European eMERGE
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
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