Trait: renal cell carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000681
Description A carcinoma that arises from glandular epithelial cells of the kidney [MONDO: DesignPattern]
Trait category
Cancer
Synonyms 41 synonyms
  • Hypernephroma (disorder)
  • Cancers, Renal Cell
  • kidney adenocarcinoma
  • Adenocarcinoma, Renal Cell
  • Hypernephromas
  • Carcinomas, Renal Cell
  • Renal Cell Cancers
  • Renal Cell Carcinomas
  • adenocarcinoma of kidney
  • Renal Cell Carcinoma, Stage Unspecified
  • Renal Cell Adenocarcinoma
  • Carcinoma, Renal Cell
  • Grawitz tumour
  • Renal Cell Carcinoma
  • renal cell cancer
  • Adenocarcinoma of Kidney
  • Carcinomas, Nephroid
  • Tumor, Grawitz
  • Renal Cell Adenocarcinomas
  • Carcinoma of kidney
  • Carcinomas, Hypernephroid
  • Cancer, Renal Cell
  • Sarcomatoid Renal Cell Carcinoma
  • Carcinoma, Hypernephroid
  • Kidney Adenocarcinoma
  • renal cell carcinoma
  • RCC
  • Hypernephroid Carcinomas
  • Carcinoma, Nephroid
  • Renal Collecting Duct Carcinoma
  • Nephroid Carcinomas
  • Renal cell carcinoma - morphology
  • Hypernephroid Carcinoma
  • Adenocarcinoma of the Kidney
  • Nephroid Carcinoma
  • Hypernephroma
  • hypernephroma
  • Grawitz Tumor
  • Adenocarcinomas, Renal Cell
  • renal cell carcinoma (disease)
  • Renal cell carcinoma (morphologic abnormality)
Mapped term(s) 16 mapped terms
  • MESH:D002292
  • HP:0005584
  • GARD:0013215
  • DOID:4450
  • Orphanet:217071
  • MSH:D002292
  • OMIM:300854
  • SNOMEDCT:41607009
  • NCIt:C9385
  • MONDO:0005086
  • SCTID:702391001
  • SNOMEDCT:702391001
  • MedDRA:10067946
  • OMIM:144700
  • ICD9:189.0
  • ONCOTREE:RCC

Associated Polygenic Score(s)

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) Pre Kidney cancer renal cell carcinoma 19 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000076/ScoringFiles/PGS000076.txt.gz

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS 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
PPM000196 PGS000076 (CC_Kidney) PSS000115 PGP000050
Graff RE et al. (2020)
Pre
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

Evaluated Samples

PGS Sample Set ID
(PSS 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
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