Renal Cell Carcinoma Pathway

Preferred Label : Renal Cell Carcinoma Pathway;

NCIt related terms : Renal cell carcinoma;

Alternative definition : KEGG: Renal cell carcinoma (RCC) is a heterogeneous term comprising a group of neoplasms of renal origin. There are 4 major histologic subtypes of RCC: conventional (clear cell RCC, 75%), papillary (15%), chromophobic (5%), and collecting duct (2%). Multiple genes are involved in the molecular pathogenesis of RCC. VHL is a tumor suppressor gene responsible for hereditary (von Hippel-Lindau) and sporadic variants of conventional (clear cell) RCC. In the absence of VHL, hypoxia-inducible factor alpha (HIF-alpha) accumulates, leading to production of several growth factors, including vascular endothelial growth factor and platelet-derived growth factor. An oncogene, MET has been found to be mutant in cases of hereditary papillary renal cancer (HPRC), although the incidence of c-MET mutations is low in sporadic papillary RCC. Once activated, MET mediates a number of biological effects including motility, invasion of extracellular matrix, cellular transformation, prevention of apoptosis and metastasis formation. Mutations in the fumarate hydratase (FH) gene cause hereditary leiomyomatosis and renal cancer syndrome (HLRCC) papillary renal tumors, although the incidence of FH mutations in sporadic tumors is unknown. Loss of functional FH leads to accumulation of fumarate in the cell, triggering inhibition of HPH and preventing targeted pVHL-mediated degradation of HIF-alpha. BHD mutations cause the Birt-Hogg-Dube syndrome and its associated chromophobe, hybrid oncocytic, and conventional (clear cell) RCC. The incidence of BHD mutations in sporadic renal tumors is not known.;

KEGG ID : hsa05211;

Details

Origin ID

C91501;

UMLS CUI

C2984311;

Automatic exact mappings (from CISMeF team)
- Clear cell carcinoma of kidney (disorder) [SNOMED CT concept]
- Renal cell carcinoma [MedDRA Preferred Term]
- Renal cell carcinoma [ICD-O code]
- Renal cell carcinoma [HPO term]
- Renal cell carcinoma [ORDO Disease]
- Renal cell carcinoma [ICD-9 code]
- Renal cell carcinoma (disorder) [SNOMED CT concept]
- Renal cell carcinoma (morphologic abnormality) [SNOMED CT concept]
- carcinoma, renal cell [MeSH Descriptor]
- carcinoma, renal cell [MeSH concept]
- renal cell carcinoma [SNOMED Notion]
- renal cell carcinoma [DO Concept]
Semantic type(s)
- Conceptual Entity [UMLS semantic type]
has_gene_product_element
- Adapter Molecule crk [NCIt concept]
- Aryl Hydrocarbon Receptor Nuclear Translocator [NCIt concept]
- Aryl Hydrocarbon Receptor Nuclear Translocator 2 [NCIt concept]
- Crk-Like Protein [NCIt concept]
- Cullin-2 [NCIt concept]
- Dual Specificity Mitogen-Activated Protein Kinase Kinase 2 [NCIt concept]
- Egl Nine Homolog 1 [NCIt concept]
- Egl Nine Homolog 2 [NCIt concept]
- Elongin-C [NCIt concept]
- Fumarate Hydratase, Mitochondrial [NCIt concept]
- GRB2-Associated-Binding Protein 1 [NCIt concept]
- GTPase HRas [NCIt concept]
- GTPase KRas [NCIt concept]
- GTPase Nras [NCIt concept]
- Growth Factor Receptor-Bound Protein 2 [NCIt concept]
- Hepatocyte Growth Factor [NCIt concept]
- Hepatocyte Growth Factor Receptor [NCIt concept]
- Histone Acetyltransferase p300 [NCIt concept]
- Hypoxia-Inducible Factor 1-Alpha [NCIt concept]
- Mitogen-Activated Protein Kinase 1 [NCIt concept]
- Mitogen-Activated Protein Kinase 3 [NCIt concept]
- Phosphatidylinositol 3-Kinase Regulatory Subunit Alpha [NCIt concept]
- Phosphatidylinositol 3-Kinase Regulatory Subunit Gamma [NCIt concept]
- Phosphatidylinositol 4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha Isoform [NCIt concept]
- Phosphatidylinositol 4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta Isoform [NCIt concept]
- Phosphatidylinositol 4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta Isoform [NCIt concept]
- Phosphatidylinositol 4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma Isoform [NCIt concept]
- Phosphoinositide 3-Kinase Regulatory Subunit 5 [NCIt concept]
- Platelet-Derived Growth Factor Subunit A [NCIt concept]
- Platelet-Derived Growth Factor Subunit B [NCIt concept]
- Protein C-ets-1 [NCIt concept]
- RAC-Beta Serine/Threonine Kinase [NCIt concept]
- RAC-Gamma Serine/Threonine Kinase [NCIt concept]
- RAS-Related Protein Rap-1A [NCIt concept]
- Rap Guanine Nucleotide Exchange Factor 1 [NCIt concept]
- Ras-Related C3 Botulinum Toxin Substrate 1 [NCIt concept]
- Serine/Threonine-Protein Kinase A-Raf [NCIt concept]
- Serine/Threonine-Protein Kinase B-Raf [NCIt concept]
- Serine/Threonine-Protein Kinase PAK 1 [NCIt concept]
- Serine/Threonine-Protein Kinase PAK 3 [NCIt concept]
- Serine/Threonine-Protein Kinase PAK 4 [NCIt concept]
- Serine/Threonine-Protein Kinase PAK 5 [NCIt concept]
- Serine/Threonine-Protein Kinase PAK 6 [NCIt concept]
- Solute Carrier Family 2, Facilitated Glucose Transporter Member 1 [NCIt concept]
- Son of Sevenless Homolog 1 [NCIt concept]
- Son of Sevenless Homolog 2 [NCIt concept]
- Transcription Factor AP-1 [NCIt concept]
- Transforming Growth Factor Alpha [NCIt concept]
- Transforming Growth Factor Beta-1 [NCIt concept]
- Transforming Growth Factor Beta-2 [NCIt concept]
- Transforming Growth Factor Beta-3 [NCIt concept]
- Tyrosine-Protein Phosphatase Non-Receptor Type 11 [NCIt concept]
- Von Hippel-Lindau Disease Tumor Suppressor [NCIt concept]
pathway_has_gene_element
- AKT2 wt Allele [NCIt concept]
- AKT3 wt Allele [NCIt concept]
- ARAF wt Allele [NCIt concept]
- ARNT wt Allele [NCIt concept]
- BRAF wt Allele [NCIt concept]
- CREBBP wt Allele [NCIt concept]
- CRK wt Allele [NCIt concept]
- CRKL wt Allele [NCIt concept]
- CUL2 wt Allele [NCIt concept]
- EGLN1 wt Allele [NCIt concept]
- EGLN2 wt Allele [NCIt concept]
- ELOC wt Allele [NCIt concept]
- EP300 wt Allele [NCIt concept]
- ETS1 wt Allele [NCIt concept]
- FH wt Allele [NCIt concept]
- GAB1 wt Allele [NCIt concept]
- GRB2 wt Allele [NCIt concept]
- HGF wt Allele [NCIt concept]
- HIF1A wt Allele [NCIt concept]
- HRAS wt Allele [NCIt concept]
- JUN wt Allele [NCIt concept]
- KRAS wt Allele [NCIt concept]
- MAP2K1 wt Allele [NCIt concept]
- MAP2K2 wt Allele [NCIt concept]
- MAPK1 wt Allele [NCIt concept]
- MAPK3 wt Allele [NCIt concept]
- MET wt Allele [NCIt concept]
- NRAS wt Allele [NCIt concept]
- PAK1 wt Allele [NCIt concept]
- PAK3 wt Allele [NCIt concept]
- PAK4 wt Allele [NCIt concept]
- PAK5 wt Allele [NCIt concept]
- PAK6 wt Allele [NCIt concept]
- PDGFA wt Allele [NCIt concept]
- PDGFB wt Allele [NCIt concept]
- PIK3CA wt Allele [NCIt concept]
- PIK3CB wt Allele [NCIt concept]
- PIK3CD wt Allele [NCIt concept]
- PIK3CG wt Allele [NCIt concept]
- PIK3R1 wt Allele [NCIt concept]
- PIK3R2 wt Allele [NCIt concept]
- PIK3R3 wt Allele [NCIt concept]
- PIK3R5 wt Allele [NCIt concept]
- PTPN11 wt Allele [NCIt concept]
- RAC1 wt Allele [NCIt concept]
- RAP1A wt Allele [NCIt concept]
- RAPGEF1 wt Allele [NCIt concept]
- SLC2A1 wt Allele [NCIt concept]
- SOS1 wt Allele [NCIt concept]
- SOS2 wt Allele [NCIt concept]
- TGFA wt Allele [NCIt concept]
- TGFB1 wt Allele [NCIt concept]
- TGFB2 wt Allele [NCIt concept]
- TGFB3 wt Allele [NCIt concept]
- VHL wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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