Renal cell carcinoma
| PAG Title | Renal cell carcinoma |
| PAG ID | WAG001611 |
| Type | P |
| Source Link |  KEGG |
| Publication Reference | NA |
| PAG Description | Rel cell cancer (RCC) accounts for ~3% of human maligncies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to rel cancer accounts for 1-4% of cases. RCC is not a single disease, it has several morphological subtypes. Conventiol RCC (clear cell RCC) accounts for ~80% of cases, followed by papillary RCC (10-15%), chromophobe RCC (5%), and collecting duct RCC (<1%). Genes potentially involved in sporadic neoplasms of each particular type are VHL, MET, BHD, and FH respectively. 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. Activated MET mediates a number of biological effects including motility, invasion of extracellular matrix, cellular transformation, prevention of apoptosis and metastasis formation. Loss of functiol 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 conventiol (clear cell) RCC. |
| Species | Homo sapiens |
| nCoCo Score | 3,268 |
| Base PAG ID | WAG001611 |
| Human Phenotyte Annotation | |
| Curator | PAGER curation team |
| Curator Contact | PAGER-contact@googlegroups.com |
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