description
Renal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal cancer accounts for 1-4% of cases. RCC is not a single disease, it has several morphological subtypes. Conventional 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 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

external resources
NCBI:83107
KEGG:hsa05211
PUBMED:12351585
PUBMED:17211469
PUBMED:16339096
PUBMED:17287871
PUBMED:14634372
PUBMED:15611513
PUBMED:14685170
PUBMED:15122209

genes
AKT1 , AKT2 , ARAF , ARNT , BRAF , CDC42 , CREBBP , CRK , CRKL , EP300 , EPAS1 , ETS1 , FH , GAB1 , GRB2 , RAPGEF1 , HGF , HIF1A , HRAS , JUN , KRAS , MET , NRAS , PAK1 , PAK2 , PAK3 , PDGFB , PIK3CA , PIK3CB , PIK3CD , PIK3R1 , PIK3R2 , MAPK1 , MAPK3 , MAP2K1 , MAP2K2 , PTPN11 , RAC1 , RAF1 , RAP1A , RAP1B , SLC2A1 , SOS1 , SOS2 , ELOC , ELOB , TGFA , TGFB1 , TGFB2 , TGFB3 , VEGFA , VHL , CUL2 , PIK3R3 , ARNT2 , RBX1 , AKT3 , PAK4 , EGLN1 , PAK6 , PAK5 , EGLN2 , EGLN3 , FLCN ,