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Volumn 7, Issue 5, 2010, Pages 277-285

The genetic basis of kidney cancer: A metabolic disease

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; AXITINIB; BEVACIZUMAB; CELL PROTEIN; EVEROLIMUS; FORETINIB; FUMARATE HYDRATASE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE KINASE; HYPOXIA INDUCIBLE FACTOR; INTERFERON; IRON; MAMMALIAN TARGET OF RAPAMYCIN; N (3 METHYLPHENYL) 4 (4 PYRIDINYL) 2 THIAZOLAMINE; OXYGEN; PAZOPANIB; PHOSPHATIDYLINOSITOL 3 KINASE; PLACEBO; PROTEIN FLCN; PROTEIN KINASE B; PROTEIN KINASE LKB1; RAPAMYCIN; SCATTER FACTOR RECEPTOR; SORAFENIB; SUCCINATE DEHYDROGENASE; SUNITINIB; TEMSIROLIMUS; TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; UNCLASSIFIED DRUG; UNINDEXED DRUG; VON HIPPEL LINDAU PROTEIN;

EID: 77952263737     PISSN: 17594812     EISSN: 17594820     Source Type: Journal    
DOI: 10.1038/nrurol.2010.47     Document Type: Review
Times cited : (615)

References (94)
  • 1
    • 0242608613 scopus 로고    scopus 로고
    • The genetic basis of cancer of the kidney
    • Linehan, W. M., Walther, M. M. & Zbar, B. The genetic basis of cancer of the kidney. J. Urol. 170, 2163-2172 (2003).
    • (2003) J. Urol. , vol.170 , pp. 2163-2172
    • Linehan, W.M.1    Walther, M.M.2    Zbar, B.3
  • 2
    • 4043181214 scopus 로고    scopus 로고
    • Cancer genes and the pathways they control
    • Vogelstein, B. & Kinzler, K. W. Cancer genes and the pathways they control. Nat. Med. 10, 789-799 (2004).
    • (2004) Nat. Med. , vol.10 , pp. 789-799
    • Vogelstein, B.1    Kinzler, K.W.2
  • 3
    • 70149084244 scopus 로고    scopus 로고
    • Attacking cancer at its root
    • Thompson, C. B. Attacking cancer at its root. Cell 138, 1051-1054 (2009).
    • (2009) Cell , vol.138 , pp. 1051-1054
    • Thompson, C.B.1
  • 4
    • 61849135453 scopus 로고    scopus 로고
    • Tumor suppressors and cell metabolism: A recipe for cancer growth
    • Jones, R. G. & Thompson, C. B. Tumor suppressors and cell metabolism: a recipe for cancer growth. Genes Dev. 23, 537-548 (2009).
    • (2009) Genes Dev. , vol.23 , pp. 537-548
    • Jones, R.G.1    Thompson, C.B.2
  • 5
    • 66249108601 scopus 로고    scopus 로고
    • Understanding the Warburg effect: The metabolic requirements of cell proliferation
    • Vander Heiden, M. G., Cantley, L. C. & Thompson, C. B. Understanding the Warburg effect: the metabolic requirements of cell proliferation. Science 324, 1029-1033 (2009).
    • (2009) Science , vol.324 , pp. 1029-1033
    • Vander Heiden, M.G.1    Cantley, L.C.2    Thompson, C.B.3
  • 6
    • 0023865666 scopus 로고
    • Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma
    • Seizinger, B. R. et al. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 332, 268-269 (1988).
    • (1988) Nature , vol.332 , pp. 268-269
    • Seizinger, B.R.1
  • 7
    • 0025806036 scopus 로고
    • Isolation and regional localization of a large collection (2,000) of single copy DNA fragments on human chromosome 3 for mapping and cloning tumor suppressor genes
    • Lerman, M. I. et al. Isolation and regional localization of a large collection (2,000) of single copy DNA fragments on human chromosome 3 for mapping and cloning tumor suppressor genes. Hum. Genet. 86, 567-577 (1991).
    • (1991) Hum. Genet. , vol.86 , pp. 567-577
    • Lerman, M.I.1
  • 8
    • 0026542913 scopus 로고
    • Screening for von hippellindau disease by DNA-polymorphism analysis
    • Glenn, G. M. et al. Screening for von hippellindau disease by DNA-polymorphism analysis. JAMA 267, 1226-1231 (1992).
    • (1992) JAMA , vol.267 , pp. 1226-1231
    • Glenn, G.M.1
  • 9
    • 0026785311 scopus 로고
    • Molecular and genetic characterization and physical mapping of 11 new markers detecting multiallele restriction fragment length polymorphisms on the short arm of human chromosome 3
    • Latif, F. et al. Molecular and genetic characterization and physical mapping of 11 new markers detecting multiallele restriction fragment length polymorphisms on the short arm of human chromosome 3. Hum. Genet. 90, 17-22 (1992).
    • (1992) Hum. Genet. , vol.90 , pp. 17-22
    • Latif, F.1
  • 10
    • 0027064978 scopus 로고
    • Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers
    • Maher, E. R. et al. Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers. J. Med. Genet. 29, 902-905 (1992).
    • (1992) J. Med. Genet. , vol.29 , pp. 902-905
    • Maher, E.R.1
  • 11
    • 0027314653 scopus 로고
    • Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus
    • Crossey, P. A. et al. Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus. Hum. Mol. Genet. 2, 279-282 (1993).
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 279-282
    • Crossey, P.A.1
  • 13
    • 7844234770 scopus 로고    scopus 로고
    • Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
    • Stolle, C. et al. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum. Mutat. 12, 417-423 (1998).
    • (1998) Hum. Mutat. , vol.12 , pp. 417-423
    • Stolle, C.1
  • 14
    • 0027954044 scopus 로고
    • Mutations of the VHL tumour suppressor gene in renal carcinoma
    • Gnarra, J. R. et al. Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat. Genet. 7, 85-90 (1994).
    • (1994) Nat. Genet. , vol.7 , pp. 85-90
    • Gnarra, J.R.1
  • 15
    • 51049084870 scopus 로고    scopus 로고
    • Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors
    • Nickerson, M. L. et al. Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors. Clin. Cancer Res. 14, 4726-4734 (2008).
    • (2008) Clin. Cancer Res. , vol.14 , pp. 4726-4734
    • Nickerson, M.L.1
  • 16
    • 0028235907 scopus 로고
    • Frequent somatic mutations and loss of heterozygosity of the von Hippellindau tumor suppressor gene in primary human renal cell carcinomas
    • Shuin, T. et al. Frequent somatic mutations and loss of heterozygosity of the von Hippellindau tumor suppressor gene in primary human renal cell carcinomas. Cancer Res. 54, 2852-2855 (1994).
    • (1994) Cancer Res. , vol.54 , pp. 2852-2855
    • Shuin, T.1
  • 17
    • 0029126892 scopus 로고
    • Inhibition of transcription elongation by the VHL tumor suppressor protein
    • Duan, D. R. et al. Inhibition of transcription elongation by the VHL tumor suppressor protein. Science 269, 1402-1406 (1995).
    • (1995) Science , vol.269 , pp. 1402-1406
    • Duan, D.R.1
  • 18
    • 0030953635 scopus 로고    scopus 로고
    • The von Hippel-Lindau tumorsuppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins
    • Pause, A. et al. The von Hippel-Lindau tumorsuppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins. Proc. Natl Acad. Sci. USA 94, 2156-2161 (1997).
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 2156-2161
    • Pause, A.1
  • 19
    • 0029147430 scopus 로고
    • Binding of the von Hippel- Lindau tumor suppressor protein to elongin B and C
    • Kibel, A., Iliopoulos, O., DeCaprio, J. A. & Kaelin, W. G. Jr. Binding of the von Hippel- Lindau tumor suppressor protein to elongin B and C. Science 269, 1444-1446 (1995).
    • (1995) Science , vol.269 , pp. 1444-1446
    • Kibel, A.1    Iliopoulos, O.2    Decaprio, J.A.3    Kaelin Jr., W.G.4
  • 21
    • 0033587146 scopus 로고    scopus 로고
    • The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
    • Maxwell, P. H. et al. The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 399, 271-275 (1999).
    • (1999) Nature , vol.399 , pp. 271-275
    • Maxwell, P.H.1
  • 22
    • 0036718539 scopus 로고    scopus 로고
    • Molecular basis of the VHL hereditary cancer syndrome
    • Kaelin, W. G. Jr. Molecular basis of the VHL hereditary cancer syndrome. Nat. Rev. Cancer 2, 673-682 (2002).
    • (2002) Nat. Rev. Cancer , vol.2 , pp. 673-682
    • Kaelin Jr., W.G.1
  • 23
    • 0036528246 scopus 로고    scopus 로고
    • Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein
    • Kondo, K., Klco, J., Nakamura, E., Lechpammer, M. & Kaelin, W. G. Jr. Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein. Cancer Cell 1, 237-246 (2002).
    • (2002) Cancer Cell , vol.1 , pp. 237-246
    • Kondo, K.1    Klco, J.2    Nakamura, E.3    Lechpammer, M.4    Kaelin Jr., W.G.5
  • 24
    • 2342597973 scopus 로고    scopus 로고
    • Inhibition of HIF2alpha is sufficient to suppress pVHL-defective tumor growth
    • Kondo, K., Kim, W. Y., Lechpammer, M. & Kaelin, W. G. Jr. Inhibition of HIF2alpha is sufficient to suppress pVHL-defective tumor growth. PLoS Biol. 1, E83 (2003).
    • (2003) PLoS Biol. , vol.1
    • Kondo, K.1    Kim, W.Y.2    Lechpammer, M.3    Kaelin Jr., W.G.4
  • 25
    • 0036527785 scopus 로고    scopus 로고
    • The contribution of VHL substrate binding and HIF1-alpha to the phenotype of VHL loss in renal cell carcinoma
    • Maranchie, J. K. et al. The contribution of VHL substrate binding and HIF1-alpha to the phenotype of VHL loss in renal cell carcinoma. Cancer Cell 1, 247-255 (2002).
    • (2002) Cancer Cell , vol.1 , pp. 247-255
    • Maranchie, J.K.1
  • 26
    • 56849096837 scopus 로고    scopus 로고
    • HIF-alpha effects on c-Myc distinguish two subtypes of sporadic VHLdeficient clear cell renal carcinoma
    • Gordan, J. D. et al. HIF-alpha effects on c-Myc distinguish two subtypes of sporadic VHLdeficient clear cell renal carcinoma. Cancer Cell 14, 435-446 (2008).
    • (2008) Cancer Cell , vol.14 , pp. 435-446
    • Gordan, J.D.1
  • 27
    • 30044432434 scopus 로고    scopus 로고
    • Hypoxia-inducible factor determines sensitivity to inhibitors of mTOR in kidney cancer
    • Thomas, G. V. et al. Hypoxia-inducible factor determines sensitivity to inhibitors of mTOR in kidney cancer. Nat. Med. 12, 122-127 (2006).
    • (2006) Nat. Med. , vol.12 , pp. 122-127
    • Thomas, G.V.1
  • 29
    • 4944249117 scopus 로고    scopus 로고
    • BAY 43-9006 exhibits broad spectrum oral antitumor activity and targets the RAF/MEK/ERK pathway and receptor tyrosine kinases involved in tumor progression and angiogenesis
    • Wilhelm, S. M. et al. BAY 43-9006 exhibits broad spectrum oral antitumor activity and targets the RAF/MEK/ERK pathway and receptor tyrosine kinases involved in tumor progression and angiogenesis. Cancer Res. 64, 7099-7109 (2004).
    • (2004) Cancer Res. , vol.64 , pp. 7099-7109
    • Wilhelm, S.M.1
  • 30
    • 12244301581 scopus 로고    scopus 로고
    • In vivo antitumor activity of SU11248, a novel tyrosine kinase inhibitor targeting vascular endothelial growth factor and platelet-derived growth factor receptors: Determination of a pharmacokinetic/ pharmacodynamic relationship
    • Mendel, D. B. et al. In vivo antitumor activity of SU11248, a novel tyrosine kinase inhibitor targeting vascular endothelial growth factor and platelet-derived growth factor receptors: determination of a pharmacokinetic/ pharmacodynamic relationship. Clin. Cancer Res. 9, 327-337 (2003).
    • (2003) Clin. Cancer Res. , vol.9 , pp. 327-337
    • Mendel, D.B.1
  • 31
    • 35448934762 scopus 로고    scopus 로고
    • Axitinib treatment in patients with cytokine-refractory metastatic renal-cell cancer: A phase II study
    • Rixe, O. et al. Axitinib treatment in patients with cytokine-refractory metastatic renal-cell cancer: a phase II study. Lancet Oncol. 8, 975-984 (2007).
    • (2007) Lancet Oncol. , vol.8 , pp. 975-984
    • Rixe, O.1
  • 32
    • 49449117755 scopus 로고    scopus 로고
    • Discovery of 5-[[4-[(2, 3-dimethyl-2H-indazol-6-yl)methylamino]- 2-pyrimidinyl]amino]-2-m ethylbenzenesulfonamide (Pazopanib), a novel and potent vascular endothelial growth factor receptor inhibitor
    • Harris, P. A. et al. Discovery of 5-[[4-[(2, 3-dimethyl-2H-indazol-6-yl) methylamino]- 2-pyrimidinyl]amino]-2-m ethylbenzenesulfonamide (Pazopanib), a novel and potent vascular endothelial growth factor receptor inhibitor. J. Med. Chem. 51, 4632-4640 (2008).
    • (2008) J. Med. Chem. , vol.51 , pp. 4632-4640
    • Harris, P.A.1
  • 33
    • 0036682284 scopus 로고    scopus 로고
    • Identification of small molecule inhibitors of hypoxia-inducible factor 1 transcriptional activation pathway
    • Rapisarda, A. et al. Identification of small molecule inhibitors of hypoxia-inducible factor 1 transcriptional activation pathway. Cancer Res. 62, 4316-4324 (2002).
    • (2002) Cancer Res. , vol.62 , pp. 4316-4324
    • Rapisarda, A.1
  • 34
    • 1242271198 scopus 로고    scopus 로고
    • Topoisomerase I-mediated inhibition of hypoxia-inducible factor 1: Mechanism and therapeutic implications
    • Rapisarda, A. et al. Topoisomerase I-mediated inhibition of hypoxia-inducible factor 1: mechanism and therapeutic implications. Cancer Res. 64, 1475-1482 (2004).
    • (2004) Cancer Res. , vol.64 , pp. 1475-1482
    • Rapisarda, A.1
  • 36
    • 33748194210 scopus 로고    scopus 로고
    • Development of a cell-based reporter assay for screening of inhibitors of hypoxia-inducible factor 2-induced gene expression
    • Woldemichael, G. M. et al. Development of a cell-based reporter assay for screening of inhibitors of hypoxia-inducible factor 2-induced gene expression. J. Biomol. Screen. 11, 678-687 (2006).
    • (2006) J. Biomol. Screen. , vol.11 , pp. 678-687
    • Woldemichael, G.M.1
  • 37
    • 30044432434 scopus 로고    scopus 로고
    • Hypoxia-inducible factor determines sensitivity to inhibitors of mTOR in kidney cancer
    • Thomas, G. V. et al. Hypoxia-inducible factor determines sensitivity to inhibitors of mTOR in kidney cancer. Nat. Med. 12, 122-127 (2006).
    • (2006) Nat. Med. , vol.12 , pp. 122-127
    • Thomas, G.V.1
  • 38
    • 58049216350 scopus 로고    scopus 로고
    • Differential dependence of hypoxia-inducible factors 1 alpha and 2 alpha on mTORC1 and mTORC2
    • Toschi, A., Lee, E., Gadir, N., Ohh, M. & Foster, D. A. Differential dependence of hypoxia-inducible factors 1 alpha and 2 alpha on mTORC1 and mTORC2. J. Biol. Chem. 283, 34495-34499 (2008).
    • (2008) J. Biol. Chem. , vol.283 , pp. 34495-34499
    • Toschi, A.1    Lee, E.2    Gadir, N.3    Ohh, M.4    Foster, D.A.5
  • 39
    • 75149112670 scopus 로고    scopus 로고
    • AZD8055 is a potent, selective, and orally bioavailable ATPcompetitive mammalian target of rapamycin kinase inhibitor with in vitro and in vivo antitumor activity
    • Chresta, C. M. et al. AZD8055 is a potent, selective, and orally bioavailable ATPcompetitive mammalian target of rapamycin kinase inhibitor with in vitro and in vivo antitumor activity. Cancer Res. 70, 288-298 (2010).
    • (2010) Cancer Res. , vol.70 , pp. 288-298
    • Chresta, C.M.1
  • 40
    • 34247628002 scopus 로고    scopus 로고
    • Iron-regulatory proteins limit hypoxia-inducible factor-2alpha expression in iron deficiency
    • Sanchez, M., Galy, B., Muckenthaler, M. U. & Hentze, M. W. Iron-regulatory proteins limit hypoxia-inducible factor-2alpha expression in iron deficiency. Nat. Struct. Mol. Biol. 14, 420-426 (2007).
    • (2007) Nat. Struct. Mol. Biol. , vol.14 , pp. 420-426
    • Sanchez, M.1    Galy, B.2    Muckenthaler, M.U.3    Hentze, M.W.4
  • 41
    • 33746361251 scopus 로고    scopus 로고
    • The role of iron regulatory proteins in mammalian iron homeostasis and disease
    • Rouault, T. A. The role of iron regulatory proteins in mammalian iron homeostasis and disease. Nat. Chem. Biol. 2, 406-414 (2006).
    • (2006) Nat. Chem. Biol. , vol.2 , pp. 406-414
    • Rouault, T.A.1
  • 42
    • 47249142777 scopus 로고    scopus 로고
    • Iron-sulfur cluster biogenesis and human disease
    • Rouault, T. A. & Tong, W. H. Iron-sulfur cluster biogenesis and human disease. Trends Genet. 24, 398-407 (2008).
    • (2008) Trends Genet. , vol.24 , pp. 398-407
    • Rouault, T.A.1    Tong, W.H.2
  • 43
    • 34047191966 scopus 로고    scopus 로고
    • Overexpression of iron regulatory protein 1 suppresses growth of tumor xenografts
    • Chen, G., Fillebeen, C., Wang, J. & Pantopoulos, K. Overexpression of iron regulatory protein 1 suppresses growth of tumor xenografts. Carcinogenesis 28, 785-791 (2007).
    • (2007) Carcinogenesis , vol.28 , pp. 785-791
    • Chen, G.1    Fillebeen, C.2    Wang, J.3    Pantopoulos, K.4
  • 44
    • 57849147670 scopus 로고    scopus 로고
    • Small-molecule inhibitors of HIF-2a translation link its 5'UTR ironresponsive element to oxygen sensing
    • Zimmer, M. et al. Small-molecule inhibitors of HIF-2a translation link its 5'UTR ironresponsive element to oxygen sensing. Mol. Cell 32, 838-848 (2008).
    • (2008) Mol. Cell , vol.32 , pp. 838-848
    • Zimmer, M.1
  • 45
    • 45849147350 scopus 로고    scopus 로고
    • A molecule targeting VHLdeficient renal cell carcinoma that induces autophagy
    • Turcotte, S. et al. A molecule targeting VHLdeficient renal cell carcinoma that induces autophagy. Cancer Cell 14, 90-102 (2008).
    • (2008) Cancer Cell , vol.14 , pp. 90-102
    • Turcotte, S.1
  • 46
    • 33745697763 scopus 로고    scopus 로고
    • Targeting the c-Met signaling pathway in cancer
    • Peruzzi, B. & Bottaro, D. P. Targeting the c-Met signaling pathway in cancer. Clin. Cancer Res. 12, 3657-3660 (2006).
    • (2006) Clin. Cancer Res. , vol.12 , pp. 3657-3660
    • Peruzzi, B.1    Bottaro, D.P.2
  • 47
    • 17344381429 scopus 로고    scopus 로고
    • Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas
    • Schmidt, L. S. et al. Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat. Genet. 16, 68-73 (1997).
    • (1997) Nat. Genet. , vol.16 , pp. 68-73
    • Schmidt, L.S.1
  • 48
    • 0033535530 scopus 로고    scopus 로고
    • Novel mutations of the MET proto-oncogene in papillary renal carcinomas
    • Schmidt, L. S. et al. Novel mutations of the MET proto-oncogene in papillary renal carcinomas. Oncogene 18, 2343-2350 (1999).
    • (1999) Oncogene , vol.18 , pp. 2343-2350
    • Schmidt, L.S.1
  • 49
    • 0032813906 scopus 로고    scopus 로고
    • Hereditary and sporadic papillary renal carcinomas with c-met mutations share a distinct morphological phenotype
    • Lubensky, I. A. et al. Hereditary and sporadic papillary renal carcinomas with c-met mutations share a distinct morphological phenotype. Am. J. Pathol. 155, 517-526 (1999).
    • (1999) Am. J. Pathol. , vol.155 , pp. 517-526
    • Lubensky, I.A.1
  • 50
    • 71049154727 scopus 로고    scopus 로고
    • A phase II study of two dosing regimens of GSK 1363089 (GSK089) a dual MET/VEGFR2 inhibitor in patients (pts) with papillary renal carcinoma (PRC) [abstract 5103]
    • Srinivasan, R. et al. A phase II study of two dosing regimens of GSK 1363089 (GSK089), a dual MET/VEGFR2 inhibitor, in patients (pts) with papillary renal carcinoma (PRC) [abstract 5103]. J. Clin. Oncol. 27 (Suppl.), 15s (2009).
    • (2009) J. Clin. Oncol. , vol.27 , Issue.SUPPL.
    • Srinivasan, R.1
  • 52
    • 0029834567 scopus 로고    scopus 로고
    • Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features
    • Bjornsson, J., Short, M. P., Kwiatkowski, D. J. & Henske, E. P. Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. Am. J. Pathol. 149, 1-8 (1996).
    • (1996) Am. J. Pathol. , vol.149 , pp. 1-8
    • Bjornsson, J.1    Short, M.P.2    Kwiatkowski, D.J.3    Henske, E.P.4
  • 53
    • 0034821623 scopus 로고    scopus 로고
    • Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
    • Schmidt, L. S. et al. Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am. J. Hum. Genet. 69, 876-882 (2001).
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 876-882
    • Schmidt, L.S.1
  • 54
    • 0000939691 scopus 로고    scopus 로고
    • Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome
    • Nickerson, M. L. et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell 2, 157-164 (2002).
    • (2002) Cancer Cell , vol.2 , pp. 157-164
    • Nickerson, M.L.1
  • 55
    • 0017760671 scopus 로고
    • Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons
    • Birt, A. R., Hogg, G. R. & Dube, W. J. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch. Dermatol. 113, 1674-1677 (1977).
    • (1977) Arch. Dermatol. , vol.113 , pp. 1674-1677
    • Birt, A.R.1    Hogg, G.R.2    Dube, W.J.3
  • 56
    • 0036892633 scopus 로고    scopus 로고
    • Renal tumors in the Birt- Hogg-Dubé syndrome
    • Pavlovich, C. P. et al. Renal tumors in the Birt- Hogg-Dubé syndrome. Am. J. Surg. Pathol. 26, 1542-1552 (2002).
    • (2002) Am. J. Surg. Pathol. , vol.26 , pp. 1542-1552
    • Pavlovich, C.P.1
  • 57
    • 20244378963 scopus 로고    scopus 로고
    • Evaluation and management of renal tumors in the Birt-Hogg- Dube syndrome
    • Pavlovich, C. P. et al. Evaluation and management of renal tumors in the Birt-Hogg- Dube syndrome. J. Urol. 173, 1482-1486 (2005).
    • (2005) J. Urol. , vol.173 , pp. 1482-1486
    • Pavlovich, C.P.1
  • 58
    • 34248350779 scopus 로고    scopus 로고
    • Lung cysts, spontaneous pneumothrorax and genetic associations in 89 families with Birt-Hogg-Dubé syndrome
    • Toro, J. R. et al. Lung cysts, spontaneous pneumothrorax and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am. J. Respir. Crit. Care Med. 175, 1044-1053 (2007).
    • (2007) Am. J. Respir. Crit. Care Med. , vol.175 , pp. 1044-1053
    • Toro, J.R.1
  • 59
    • 21044457377 scopus 로고    scopus 로고
    • Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome
    • Schmidt, L. S. et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am. J. Hum. Genet. 76, 1023-1033 (2005).
    • (2005) Am. J. Hum. Genet. , vol.76 , pp. 1023-1033
    • Schmidt, L.S.1
  • 60
    • 45249103326 scopus 로고    scopus 로고
    • BHD mutations, clinical and molecular genetic investigations of Birt-Hogg- Dube syndrome: A new series of 50 families and a review of published reports
    • Toro, J. R. et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg- Dube syndrome: a new series of 50 families and a review of published reports. J. Med. Genet. 45, 321-331 (2008).
    • (2008) J. Med. Genet. , vol.45 , pp. 321-331
    • Toro, J.R.1
  • 61
    • 21444432561 scopus 로고    scopus 로고
    • High frequency of somatic frameshift BHD gene mutations in Birt-Hogg- Dube-associated renal tumors
    • Vocke, C. D. et al. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg- Dube-associated renal tumors. J. Natl Cancer Inst. 97, 931-935 (2005).
    • (2005) J. Natl Cancer Inst. , vol.97 , pp. 931-935
    • Vocke, C.D.1
  • 62
    • 33750293584 scopus 로고    scopus 로고
    • Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
    • Baba, M. et al. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc. Natl Acad. Sci. USA 103, 15552-15557 (2006).
    • (2006) Proc. Natl Acad. Sci. USA , vol.103 , pp. 15552-15557
    • Baba, M.1
  • 63
    • 42649092576 scopus 로고    scopus 로고
    • Identification and characterization of a novel folliculin-interacting protein FNIP2
    • Hasumi, H. et al. Identification and characterization of a novel folliculin-interacting protein FNIP2. Gene 415, 60-67 (2008).
    • (2008) Gene , vol.415 , pp. 60-67
    • Hasumi, H.1
  • 64
    • 51649122895 scopus 로고    scopus 로고
    • Interaction of folliculin (Birt- Hogg-Dube gene product) with a novel Fnip1- like (FnipL/Fnip2) protein
    • Takagi, Y. et al. Interaction of folliculin (Birt- Hogg-Dube gene product) with a novel Fnip1- like (FnipL/Fnip2) protein. Oncogene 27, 5339-5347 (2008).
    • (2008) Oncogene , vol.27 , pp. 5339-5347
    • Takagi, Y.1
  • 65
    • 73249138930 scopus 로고    scopus 로고
    • Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2
    • Hasumi, Y. et al. Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2. Proc. Natl Acad. Sci. USA 106, 18722-18727 (2009).
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 18722-18727
    • Hasumi, Y.1
  • 66
    • 38449122032 scopus 로고    scopus 로고
    • Kidney-targeted Birt-Hogg-Dubé gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys
    • Baba, M. et al. Kidney-targeted Birt-Hogg-Dubé gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. J. Natl Cancer Inst. 100, 140-154 (2008).
    • (2008) J. Natl Cancer Inst. , vol.100 , pp. 140-154
    • Baba, M.1
  • 67
    • 55849108854 scopus 로고    scopus 로고
    • Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia
    • Chen, J. et al. Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia. PLoS ONE 3, e3581 (2008).
    • (2008) PLoS ONE , vol.3
    • Chen, J.1
  • 68
    • 18544365990 scopus 로고    scopus 로고
    • Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
    • Tomlinson, I. P. et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat. Genet. 30, 406-410 (2002).
    • (2002) Nat. Genet. , vol.30 , pp. 406-410
    • Tomlinson, I.P.1
  • 69
    • 34748836454 scopus 로고    scopus 로고
    • The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome
    • Merino, M. J., Torres-Cabala, C., Pinto, P. A. & Linehan, W. M. The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am. J. Surg. Pathol. 31, 1578-1585 (2007).
    • (2007) Am. J. Surg. Pathol. , vol.31 , pp. 1578-1585
    • Merino, M.J.1    Torres-Cabala, C.2    Pinto, P.A.3    Linehan, W.M.4
  • 70
    • 58049204264 scopus 로고    scopus 로고
    • Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer
    • Stewart, L. et al. Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. Arch. Dermatol. 144, 1584-1592 (2008).
    • (2008) Arch. Dermatol. , vol.144 , pp. 1584-1592
    • Stewart, L.1
  • 71
    • 0037713729 scopus 로고    scopus 로고
    • Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America
    • Toro, J. R. et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am. J. Hum. Genet. 73, 95-106 (2003).
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 95-106
    • Toro, J.R.1
  • 72
    • 30744457565 scopus 로고    scopus 로고
    • Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer
    • Wei, M. H. et al. Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J. Med. Genet. 43, 18-27 (2006).
    • (2006) J. Med. Genet. , vol.43 , pp. 18-27
    • Wei, M.H.1
  • 73
    • 23644448721 scopus 로고    scopus 로고
    • HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: Novel role of fumarate in regulation of HIF stability
    • Isaacs, J. S. et al. HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell 8, 143-153 (2005).
    • (2005) Cancer Cell , vol.8 , pp. 143-153
    • Isaacs, J.S.1
  • 74
    • 70949105507 scopus 로고    scopus 로고
    • UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: In vitro and in vivo model of an aberrant energy metabolic pathway in human cancer
    • Yang, Y. et al. UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer. Cancer Genet. Cytogenet. 196, 45-55 (2010).
    • (2010) Cancer Genet. Cytogenet. , vol.196 , pp. 45-55
    • Yang, Y.1
  • 75
    • 67651204610 scopus 로고    scopus 로고
    • Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and HIF-1{alpha} stabilization by glucose-dependent generation of reactive oxygen species
    • Sudarshan, S. et al. Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and HIF-1{alpha} stabilization by glucose-dependent generation of reactive oxygen species. Mol. Cell Biol. 15, 4080-4090 (2009).
    • (2009) Mol. Cell Biol. , vol.15 , pp. 4080-4090
    • Sudarshan, S.1
  • 76
    • 66449103009 scopus 로고    scopus 로고
    • LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer
    • Xie, H. et al. LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer. Mol. Cancer Ther. 8, 626-635 (2009).
    • (2009) Mol. Cancer Ther. , vol.8 , pp. 626-635
    • Xie, H.1
  • 77
    • 0034602950 scopus 로고    scopus 로고
    • Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
    • Baysal, B. E. et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287, 848-851 (2000).
    • (2000) Science , vol.287 , pp. 848-851
    • Baysal, B.E.1
  • 78
    • 9144249602 scopus 로고    scopus 로고
    • Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma
    • Vanharanta, S. et al. Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am. J. Hum. Genet. 74, 153-159 (2004).
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 153-159
    • Vanharanta, S.1
  • 79
    • 4143105824 scopus 로고    scopus 로고
    • Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
    • Neumann, H. P. et al. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292, 943-951 (2004).
    • (2004) JAMA , vol.292 , pp. 943-951
    • Neumann, H.P.1
  • 80
    • 51749113159 scopus 로고    scopus 로고
    • Germline SDHB mutations and familial renal cell carcinoma
    • Ricketts, C. et al. Germline SDHB mutations and familial renal cell carcinoma. J. Natl Cancer Inst. 100, 1260-1262 (2008).
    • (2008) J. Natl Cancer Inst. , vol.100 , pp. 1260-1262
    • Ricketts, C.1
  • 81
    • 51649101534 scopus 로고    scopus 로고
    • Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers
    • Srirangalingam, U. et al. Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers. Clin. Endocrinol. (Oxf.) 69, 587-596 (2008).
    • (2008) Clin. Endocrinol. (Oxf.) , vol.69 , pp. 587-596
    • Srirangalingam, U.1
  • 82
    • 68449085905 scopus 로고    scopus 로고
    • SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis
    • Henderson, A., Douglas, F., Perros, P., Morgan, C. & Maher, E. R. SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. Fam. Cancer 8, 257-260 (2009).
    • (2009) Fam. Cancer , vol.8 , pp. 257-260
    • Henderson, A.1    Douglas, F.2    Perros, P.3    Morgan, C.4    Maher, E.R.5
  • 83
    • 68949145218 scopus 로고    scopus 로고
    • Overall survival and updated results for sunitinib compared with interferon alfa in patients with metastatic renal cell carcinoma
    • Motzer, R. J. et al. Overall survival and updated results for sunitinib compared with interferon alfa in patients with metastatic renal cell carcinoma. J. Clin. Oncol. 27, 3584-3590 (2009).
    • (2009) J. Clin. Oncol. , vol.27 , pp. 3584-3590
    • Motzer, R.J.1
  • 84
    • 12444279265 scopus 로고
    • On the origin of cancer cells
    • Warburg, O. On the origin of cancer cells. Science 123, 309-314 (1956).
    • (1956) Science , vol.123 , pp. 309-314
    • Warburg, O.1
  • 85
    • 0036151647 scopus 로고    scopus 로고
    • Renal epithelial neoplasms: The diagnostic implications of electron microscopic study in 55 cases
    • Krishnan, B. & Truong, L. D. Renal epithelial neoplasms: the diagnostic implications of electron microscopic study in 55 cases. Hum. Pathol. 33, 68-79 (2002).
    • (2002) Hum. Pathol. , vol.33 , pp. 68-79
    • Krishnan, B.1    Truong, L.D.2
  • 86
    • 75149179169 scopus 로고    scopus 로고
    • Metformin associated with lower cancer mortality in type 2 diabetes: ZODIAC-16
    • Landman, G. W. et al. Metformin associated with lower cancer mortality in type 2 diabetes: ZODIAC-16. Diabetes Care 33, 322-326 (2010).
    • (2010) Diabetes Care , vol.33 , pp. 322-326
    • Landman, G.W.1
  • 88
    • 70350236538 scopus 로고    scopus 로고
    • Metformin selectively targets cancer stem cells, and acts together with chemotherapy to block tumor growth and prolong remission
    • Hirsch, H. A., Iliopoulos, D., Tsichlis, P. N. & Struhl, K. Metformin selectively targets cancer stem cells, and acts together with chemotherapy to block tumor growth and prolong remission. Cancer Res. 69, 7507-7511 (2009).
    • (2009) Cancer Res. , vol.69 , pp. 7507-7511
    • Hirsch, H.A.1    Iliopoulos, D.2    Tsichlis, P.N.3    Struhl, K.4
  • 89
    • 44449103256 scopus 로고    scopus 로고
    • Important role of the LKB1-AMPK pathway in suppressing tumorigenesis in PTEN-deficient mice
    • Huang, X. et al. Important role of the LKB1- AMPK pathway in suppressing tumorigenesis in PTEN-deficient mice. Biochem. J. 412, 211-221 (2008).
    • (2008) Biochem. J. , vol.412 , pp. 211-221
    • Huang, X.1
  • 90
    • 0034597647 scopus 로고    scopus 로고
    • Obesity hypertension, and the risk of kidney cancer in men
    • Chow, W. H., Gridley, G., Fraumeni, F. J. & Jarvholm, B. Obesity, hypertension, and the risk of kidney cancer in men. N. Engl. J. Med. 343, 1305-1311 (2000).
    • (2000) N. Engl. J. Med. , vol.343 , pp. 1305-1311
    • Chow, W.H.1    Gridley, G.2    Fraumeni, F.J.3    Jarvholm, B.4
  • 91
    • 33746897004 scopus 로고    scopus 로고
    • Renal medullary carcinoma. Case report and review of the literature
    • Leitao, V. A. et al. Renal medullary carcinoma. Case report and review of the literature. Urol. Int. 77, 184-186 (2006).
    • (2006) Urol. Int. , vol.77 , pp. 184-186
    • Leitao, V.A.1
  • 92
  • 93
    • 77951923948 scopus 로고    scopus 로고
    • Molecular diagnosis and therapy of kidney cancer
    • Linehan, W. M. et al. Molecular diagnosis and therapy of kidney cancer. Annu. Rev. Med. 10, 329-343 (2010).
    • (2010) Annu. Rev. Med. , vol.10 , pp. 329-343
    • Linehan, W.M.1
  • 94
    • 0035917808 scopus 로고    scopus 로고
    • Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation
    • Jaakkola, P. et al. Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation. Science 292, 468-472 (2001).
    • (2001) Science , vol.292 , pp. 468-472
    • Jaakkola, P.1


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