메뉴 건너뛰기




Volumn 19, Issue 12, 2004, Pages 2954-2958

The growing family of hereditary renal cell carcinoma

Author keywords

Birt Hogg Dub (BHD); Chromosome 3 translocations; Fumarate hydratase; Hereditary renal cell carcinoma; MET proto oncogene; von Hippel Lindau (VHL)

Indexed keywords

HAMARTIN; SCATTER FACTOR RECEPTOR; SUCCINATE DEHYDROGENASE; TUBERIN; TUMOR SUPPRESSOR PROTEIN; VON HIPPEL LINDAU PROTEIN;

EID: 11244354864     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/gfh535     Document Type: Editorial
Times cited : (18)

References (40)
  • 2
    • 0031255567 scopus 로고    scopus 로고
    • The Heidelberg classification of renal tumors
    • Kovacs G, Akhtar M, Beckwith BJ et al. The Heidelberg classification of renal tumors. J Pathol 1997; 183: 131-133
    • (1997) J. Pathol. , vol.183 , pp. 131-133
    • Kovacs, G.1    Akhtar, M.2    Beckwith, B.J.3
  • 3
    • 2342583527 scopus 로고    scopus 로고
    • Searching for the hereditary causes of renal-cell carcinoma
    • Pavlovich CP, Schmidt LS. Searching for the hereditary causes of renal-cell carcinoma. Nature Rev Cancer 2004; 4: 381-393
    • (2004) Nature Rev. Cancer , vol.4 , pp. 381-393
    • Pavlovich, C.P.1    Schmidt, L.S.2
  • 4
    • 0038654360 scopus 로고    scopus 로고
    • Studying cancer families to identify kidney cancer genes
    • Zbar B, Klausner R, Linehan WM. Studying cancer families to identify kidney cancer genes. Annu Rev Med 2003; 54: 217-233
    • (2003) Annu. Rev. Med. , vol.54 , pp. 217-233
    • Zbar, B.1    Klausner, R.2    Linehan, W.M.3
  • 5
  • 7
    • 0037709883 scopus 로고    scopus 로고
    • Von-Hippel-Lindau disease
    • Lonser RR, Glenn G, Walther McC et al. Von-Hippel-Lindau disease. Lancet 2003; 361: 2059-2067
    • (2003) Lancet , vol.361 , pp. 2059-2067
    • Lonser, R.R.1    Glenn, G.2    Walther, McC.3
  • 8
    • 0029744920 scopus 로고    scopus 로고
    • Renal involvement in von Hippel-Lindau disease
    • Chauveau D, Duvic C, Chrétien Y et al. Renal involvement in von Hippel-Lindau disease. Kidney Int 1996; 50: 944-951
    • (1996) Kidney Int. , vol.50 , pp. 944-951
    • Chauveau, D.1    Duvic, C.2    Chrétien, Y.3
  • 9
    • 0027240519 scopus 로고
    • Identification of the von Hippel-Lindau disease tumor suppressor gene
    • Latif F, Tory K, Gnarra J et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993; 260: 1317-1320
    • (1993) Science , vol.260 , pp. 1317-1320
    • Latif, F.1    Tory, K.2    Gnarra, J.3
  • 10
    • 0036718539 scopus 로고    scopus 로고
    • Molecular basis of the VHL hereditary cancer syndrome
    • Kaelin WG Jr. Molecular basis of the VHL hereditary cancer syndrome. Nature Rev Cancer 2002; 2: 673-682
    • (2002) Nature Rev. Cancer , vol.2 , pp. 673-682
    • Kaelin Jr., W.G.1
  • 11
    • 0033587146 scopus 로고    scopus 로고
    • The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
    • Maxwell PH, Wiesener MS, Chang GW et al. The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 1999; 399: 271-275
    • (1999) Nature , vol.399 , pp. 271-275
    • Maxwell, P.H.1    Wiesener, M.S.2    Chang, G.W.3
  • 12
    • 18744373593 scopus 로고    scopus 로고
    • Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
    • Ang SO, Chen H, Hirota K et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nature Genet 2002; 32: 614-621
    • (2002) Nature Genet. , vol.32 , pp. 614-621
    • Ang, S.O.1    Chen, H.2    Hirota, K.3
  • 13
    • 0027954044 scopus 로고
    • Mutations of the VHL tumour suppressor gene in renal carcinomas
    • Gnarra J, Tory K, Weng Y et al. Mutations of the VHL tumour suppressor gene in renal carcinomas. Nature Genet 1994; 7: 85-90
    • (1994) Nature Genet. , vol.7 , pp. 85-90
    • Gnarra, J.1    Tory, K.2    Weng, Y.3
  • 14
    • 0018736628 scopus 로고
    • Hereditary renal-cell carcinoma associated with a chromosomal translocation
    • Cohen AJ, Li FP, Berg S et al. Hereditary renal-cell carcinoma associated with a chromosomal translocation. N Engl J Med 1979; 301: 592-595
    • (1979) N. Engl. J. Med. , vol.301 , pp. 592-595
    • Cohen, A.J.1    Li, F.P.2    Berg, S.3
  • 15
  • 16
    • 0042334606 scopus 로고    scopus 로고
    • Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21)
    • Bodmer D, Schepens M, Eleveld MJ, Schoemnakers EF, Geurts van Kessel A. Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21). Genes Chromosomes Cancer 2003; 38: 107-116
    • (2003) Genes Chromosomes Cancer , vol.38 , pp. 107-116
    • Bodmer, D.1    Schepens, M.2    Eleveld, M.J.3    Schoemnakers, E.F.4    Geurts van Kessel, A.5
  • 17
    • 10744226004 scopus 로고    scopus 로고
    • The t(1;3) breakpoint-spanning genes LSAMP and NORE1 are involved in clear cell renal cell carcinomas
    • Chen J, Lui WO, Vos MD et al. The t(1;3) breakpoint-spanning genes LSAMP and NORE1 are involved in clear cell renal cell carcinomas. Cancer Cell 2003; 4: 405-413
    • (2003) Cancer Cell , vol.4 , pp. 405-413
    • Chen, J.1    Lui, W.O.2    Vos, M.D.3
  • 18
    • 0030992453 scopus 로고    scopus 로고
    • Familial non-VHL non-papillary clear-cell renal cancer
    • Teh BT, Giraud S, Sari NF et al. Familial non-VHL non-papillary clear-cell renal cancer. Lancet 1997; 349: 848-849
    • (1997) Lancet , vol.349 , pp. 848-849
    • Teh, B.T.1    Giraud, S.2    Sari, N.F.3
  • 19
    • 0034026499 scopus 로고    scopus 로고
    • Familial clear cell renal cell carcinoma (FCRC): Clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes
    • Woodward ER, Clifford SC, Astuti D, Affara NA, Maher ER. Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes. J Med Genet 2000; 37: 348-353.
    • (2000) J. Med. Genet. , vol.37 , pp. 348-353
    • Woodward, E.R.1    Clifford, S.C.2    Astuti, D.3    Affara, N.A.4    Maher, E.R.5
  • 20
    • 9144249602 scopus 로고    scopus 로고
    • Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma
    • Vanharanta S, Buchta M, McWhinney SR et al. Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet 2004; 74: 153-159
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 153-159
    • Vanharanta, S.1    Buchta, M.2    McWhinney, S.R.3
  • 21
    • 0037404869 scopus 로고    scopus 로고
    • The tuberous sclerosis complex and its highly variable manifestations
    • Lendvay TS, Marshall FF. The tuberous sclerosis complex and its highly variable manifestations. J Urol 2003; 169: 1635-1642
    • (2003) J. Urol. , vol.169 , pp. 1635-1642
    • Lendvay, T.S.1    Marshall, F.F.2
  • 22
    • 17344381429 scopus 로고    scopus 로고
    • Germline and somatic mutations in the tyrosine kinase domain of the MET protooncogene in papillary renal carcinomas
    • Schmidt L, Duh FM, Chen F et al. Germline and somatic mutations in the tyrosine kinase domain of the MET protooncogene in papillary renal carcinomas. Nature Genet 1997; 16: 68-73
    • (1997) Nature Genet. , vol.16 , pp. 68-73
    • Schmidt, L.1    Duh, F.M.2    Chen, F.3
  • 23
    • 17344373892 scopus 로고    scopus 로고
    • Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas
    • Zhuang Z, Park WS, Pack S et al. Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas. Nature Genet 1998; 20: 66-69
    • (1998) Nature Genet. , vol.20 , pp. 66-69
    • Zhuang, Z.1    Park, W.S.2    Pack, S.3
  • 24
    • 18544365990 scopus 로고    scopus 로고
    • Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
    • Multiple Leiomyoma Consortium
    • Tomlinson IP, Alam NA, Rowan AJ et al. Multiple Leiomyoma Consortium. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nature Genet 2002; 30: 406-410
    • (2002) Nature Genet. , vol.30 , pp. 406-410
    • Tomlinson, I.P.1    Alam, N.A.2    Rowan, A.J.3
  • 25
    • 12444259659 scopus 로고    scopus 로고
    • Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency
    • Alam NA, Rowan AJ, Wortham NC et al. Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 2003; 12: 1241-1252
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1241-1252
    • Alam, N.A.1    Rowan, A.J.2    Wortham, N.C.3
  • 26
    • 18744385803 scopus 로고    scopus 로고
    • HPRT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome
    • Carpten JD, Robbins CM, Villablanca A et al. HPRT2 encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nature Genet 2002; 32: 676-680
    • (2002) Nature Genet. , vol.32 , pp. 676-680
    • Carpten, J.D.1    Robbins, C.M.2    Villablanca, A.3
  • 27
    • 0034455744 scopus 로고    scopus 로고
    • Papillary thyroid carcinoma associated with papillary renal neoplasia: Genetic linkage analysis of a distinct heritable tumor syndrome
    • Malchoff CD, Sarfarazi M, Tendler B et al. Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome. J Clin Endocrinol Metab 2000; 85: 1758-1764
    • (2000) J. Clin. Endocrinol. Metab. , vol.85 , pp. 1758-1764
    • Malchoff, C.D.1    Sarfarazi, M.2    Tendler, B.3
  • 28
    • 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-Dubé syndrome
    • Nickerson ML, Warren MB, Toro JR 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-Dubé syndrome. Cancer Cell 2002; 2: 157-164
    • (2002) Cancer Cell , vol.2 , pp. 157-164
    • Nickerson, M.L.1    Warren, M.B.2    Toro, J.R.3
  • 29
    • 0036909242 scopus 로고    scopus 로고
    • Clinical and genetic study of Birt-Hogg Dubé syndrome
    • Khoo SK, Giraud S, Kahnoski K et al. Clinical and genetic study of Birt-Hogg Dubé syndrome. J Med Genet 2002; 39: 906-912
    • (2002) J. Med. Genet. , vol.39 , pp. 906-912
    • Khoo, S.K.1    Giraud, S.2    Kahnoski, K.3
  • 30
    • 0041633905 scopus 로고    scopus 로고
    • Inactivation of BHD in sporadic renal tumors
    • Khoo SK, Kalmoski K, Sugimura J et al. Inactivation of BHD in sporadic renal tumors. Cancer Res 2003; 63: 4583-4587
    • (2003) Cancer Res. , vol.63 , pp. 4583-4587
    • Khoo, S.K.1    Kalmoski, K.2    Sugimura, J.3
  • 32
    • 0035131313 scopus 로고    scopus 로고
    • Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience
    • Herring JC, Enquist EG, Chernoff A, Linehan WM, Choyke P, Walther McM. Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience. J Urol 2001; 165: 777-781
    • (2001) J. Urol. , vol.165 , pp. 777-781
    • Herring, J.C.1    Enquist, E.G.2    Chernoff, A.3    Linehan, W.M.4    Choyke, P.5    Walther, McM.6
  • 33
    • 0036135236 scopus 로고    scopus 로고
    • Percutaneous radio frequency ablation of small renal tumors: Initial results
    • Pavlovich CP, Walther McCM, Choyke PL et al. Percutaneous radio frequency ablation of small renal tumors: initial results. J Urol 2002; 167: 10-15
    • (2002) J. Urol. , vol.167 , pp. 10-15
    • Pavlovich, C.P.1    Walther, McC.M.2    Choyke, P.L.3
  • 34
    • 0036160823 scopus 로고    scopus 로고
    • Percutaneous renal cryoablation of renal tumors in patients with von Hippel-Lindau disease
    • Shingleton WB, Sewell PE Jr. Percutaneous renal cryoablation of renal tumors in patients with von Hippel-Lindau disease. J Urol 2002; 167: 1268-1270
    • (2002) J. Urol. , vol.167 , pp. 1268-1270
    • Shingleton, W.B.1    Sewell Jr., P.E.2
  • 36
    • 0042343801 scopus 로고    scopus 로고
    • A randomized trial of bevacizumab, an anti-vascular endothelial growth factor antibody, for metastatic renal cancer
    • Yang JC, Haworth L, Sherry RM et al. A randomized trial of bevacizumab, an anti-vascular endothelial growth factor antibody, for metastatic renal cancer. N Engl J Med 2003; 349: 427-434
    • (2003) N. Engl. J. Med. , vol.349 , pp. 427-434
    • Yang, J.C.1    Haworth, L.2    Sherry, R.M.3
  • 37
    • 0141481285 scopus 로고    scopus 로고
    • A novel small molecule met inhibitor induces apoptosis in cells transformed by the oncogenic TPR-MET tyrosine kinase
    • Sattler M, Pride YB, Ma P et al. A novel small molecule met inhibitor induces apoptosis in cells transformed by the oncogenic TPR-MET tyrosine kinase. Cancer Res 2003; 63: 5462-5469
    • (2003) Cancer Res. , vol.63 , pp. 5462-5469
    • Sattler, M.1    Pride, Y.B.2    Ma, P.3
  • 38
    • 0141816848 scopus 로고    scopus 로고
    • Hepatic vascular tumors, angiectasis in multiple organs, and impaired spermatogenesis in mice with conditional inactivation of the VHL gene
    • Ma W, Tessarollo L, Hong SB et al. Hepatic vascular tumors, angiectasis in multiple organs, and impaired spermatogenesis in mice with conditional inactivation of the VHL gene. Cancer Res 2003; 63: 5320-5328
    • (2003) Cancer Res. , vol.63 , pp. 5320-5328
    • Ma, W.1    Tessarollo, L.2    Hong, S.B.3
  • 39
    • 10744230490 scopus 로고    scopus 로고
    • A germline in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer
    • Okimoto A, Sakurai J, Kobayashi T et al. A germline in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer. Proc Natl Acad Sci USA 2004; 101: 2023-2027
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 2023-2027
    • Okimoto, A.1    Sakurai, J.2    Kobayashi, T.3
  • 40
    • 0345530997 scopus 로고    scopus 로고
    • A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinomas and nodular dermatofibrosis in the German shepherd dog
    • Lingaas F, Comstock KE, Kirkness EF et al. A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinomas and nodular dermatofibrosis in the German shepherd dog. Hum Mol Genet 2003; 12: 3043-3053
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 3043-3053
    • Lingaas, F.1    Comstock, K.E.2    Kirkness, E.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.