Entry Name Renal cell carcinoma - Puma yagouaroundi (jaguarundi)
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.
Class Human Diseases; Cancer: specific typesBRITE hierarchy
Pathway map Ortholog table Organism Puma yagouaroundi (jaguarundi) [GN:
pyu ]
Gene 121016330 EPAS1; endothelial PAS domain-containing protein 1 isoform X1 [KO:K09095 ]
121041270 VHL; von Hippel-Lindau disease tumor suppressor isoform X1 [KO:K03871 ]
121021044 ARNT; aryl hydrocarbon receptor nuclear translocator isoform X1 [KO:K09097 ]
121042280 ARNT2; aryl hydrocarbon receptor nuclear translocator 2 isoform X1 [KO:K15589 ]
121026968 SLC2A1; solute carrier family 2, facilitated glucose transporter member 1 [KO:K07299 ]
121018482 TGFB1; transforming growth factor beta-1 proprotein isoform X1 [KO:K13375 ]
121020862 TGFB2; transforming growth factor beta-2 proprotein isoform X1 [KO:K13376 ]
121032078 TGFB3; transforming growth factor beta-3 proprotein isoform X1 [KO:K13377 ]
121040328 PDGFB; platelet-derived growth factor subunit B isoform X1 [KO:K17386 ]
121020585 PIK3CD; phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1 [KO:K00922 ] [EC:2.7.1.153 ]
121033733 PIK3CB; phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform [KO:K00922 ] [EC:2.7.1.153 ]
121034018 PIK3CA; phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform [KO:K00922 ] [EC:2.7.1.153 ]
121014969 PIK3R1; phosphatidylinositol 3-kinase regulatory subunit alpha isoform X1 [KO:K02649 ]
121027050 PIK3R3; phosphatidylinositol 3-kinase regulatory subunit gamma [KO:K02649 ]
121011002 PIK3R2; phosphatidylinositol 3-kinase regulatory subunit beta [KO:K02649 ]
121035131 RAPGEF1; rap guanine nucleotide exchange factor 1 isoform X1 [KO:K06277 ]
121017559 RAC1; ras-related C3 botulinum toxin substrate 1 isoform X1 [KO:K04392 ]
121022813 CDC42; cell division control protein 42 homolog isoform X1 [KO:K04393 ]
Compound Reference Authors Cohen HT, McGovern FJ.
Title Renal-cell carcinoma.
Journal Reference Authors Pavlovich CP, Schmidt LS.
Title Searching for the hereditary causes of renal-cell carcinoma.
Journal Reference Authors Linehan WM, Walther MM, Zbar B.
Title The genetic basis of cancer of the kidney.
Journal Reference Authors Kim WY, Kaelin WG.
Title Role of VHL gene mutation in human cancer.
Journal Reference Authors Sudarshan S, Linehan WM, Neckers L.
Title HIF and fumarate hydratase in renal cancer.
Journal Reference Authors Sudarshan S, Pinto PA, Neckers L, Linehan WM.
Title Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer.
Journal Reference Authors Birchmeier C, Birchmeier W, Gherardi E, Vande Woude GF.
Title Met, metastasis, motility and more.
Journal Reference Authors Muller-Hocker J, Babaryka G, Schmid I, Jung A
Title Overexpression of cyclin D1, D3, and p21 in an infantile renal carcinoma with Xp11.2 TFE3-gene fusion.
Journal Reference Authors Bodmer D, van den Hurk W, van Groningen JJ, Eleveld MJ, Martens GJ, Weterman MA, van Kessel AG.
Title Understanding familial and non-familial renal cell cancer.
Journal Reference Authors Kauffman EC, Ricketts CJ, Rais-Bahrami S, Yang Y, Merino MJ, Bottaro DP, Srinivasan R, Linehan WM
Title Molecular genetics and cellular features of TFE3 and TFEB fusion kidney cancers.
Journal Reference Authors Skalsky YM, Ajuh PM, Parker C, Lamond AI, Goodwin G, Cooper CS
Title PRCC, the commonest TFE3 fusion partner in papillary renal carcinoma is associated with pre-mRNA splicing factors.
Journal Reference Authors Medendorp K, van Groningen JJ, Vreede L, Hetterschijt L, Brugmans L, van den Hurk WH, van Kessel AG
Title The renal cell carcinoma-associated oncogenic fusion protein PRCCTFE3 provokes p21 WAF1/CIP1-mediated cell cycle delay.
Journal Related KO pathway LinkDB All DBs
