메뉴 건너뛰기




Volumn 63, Issue 4, 1998, Pages 1025-1035

An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: Evidence for modifier effects

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; GLUTATHIONE TRANSFERASE;

EID: 0032231366     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302037     Document Type: Article
Times cited : (81)

References (36)
  • 3
    • 0029074707 scopus 로고
    • Von Hippel Lindau disease with pheochromocytoma in the Black Forest region of Germany: Evidence for a founder effect
    • Brauch H, Kishida T, Glavac D, Chen F, Pausch F, Hofler H, Latif F, et al (1995) von Hippel Lindau disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum Genet 95:551-556
    • (1995) Hum Genet , vol.95 , pp. 551-556
    • Brauch, H.1    Kishida, T.2    Glavac, D.3    Chen, F.4    Pausch, F.5    Hofler, H.6    Latif, F.7
  • 4
    • 0028981766 scopus 로고
    • Germline mutations in the von Hippel Lindau disease tumor suppressor gene: Correlations with phenotype
    • Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean D, Gnarra JR, et al (1995) Germline mutations in the von Hippel Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat 5:66-75
    • (1995) Hum Mutat , vol.5 , pp. 66-75
    • Chen, F.1    Kishida, T.2    Yao, M.3    Hustad, T.4    Glavac, D.5    Dean, D.6    Gnarra, J.R.7
  • 5
    • 0031776704 scopus 로고    scopus 로고
    • Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: Evidence for a VHL-independent pathway in clear cell renal tumourigenesis
    • Clifford SC, Prowse AH, Affara NA, Buys CHCM, Maher ER (1998) Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: evidence for a VHL-independent pathway in clear cell renal tumourigenesis. Genes Chromosomes Cancer 22:200-209
    • (1998) Genes Chromosomes Cancer , vol.22 , pp. 200-209
    • Clifford, S.C.1    Prowse, A.H.2    Affara, N.A.3    Buys, C.H.C.M.4    Maher, E.R.5
  • 6
    • 0028140182 scopus 로고
    • Molecular genetic investigation of the mechanism of tumourigenesis in von Hippel-Lindau disease: Analysis of allele loss in VHL tumours
    • Crossey PA, Foster K, Richards FM, Phipps ME, Latif F, Tory K, Jones MH, et al (1994a) Molecular genetic investigation of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours. Hum Genet 93:53-58
    • (1994) Hum Genet , vol.93 , pp. 53-58
    • Crossey, P.A.1    Foster, K.2    Richards, F.M.3    Phipps, M.E.4    Latif, F.5    Tory, K.6    Jones, M.H.7
  • 7
    • 0028030581 scopus 로고
    • Identification of intragenic mutations in the von Hippel-Lindau disease tumor suppressor gene and correlation with disease phenotype
    • Crossey PA, Richards FM, Foster K, Green JS, Prowse A, Latif F, Lerman MI, et al (1994b) Identification of intragenic mutations in the von Hippel-Lindau disease tumor suppressor gene and correlation with disease phenotype. Hum Mol Genet 3:1303-1308
    • (1994) Hum Mol Genet , vol.3 , pp. 1303-1308
    • Crossey, P.A.1    Richards, F.M.2    Foster, K.3    Green, J.S.4    Prowse, A.5    Latif, F.6    Lerman, M.I.7
  • 8
  • 9
    • 0027363063 scopus 로고
    • Genetic identification of Mom-1, a major modifier locus affecting Mm-induced intestinal neoplasia in the mouse
    • Dietrich WF, Lander ES, Smith JS, Moser AR, Gould KA, Luongo C, Borenstein N, et al (1993) Genetic identification of Mom-1, a major modifier locus affecting Mm-induced intestinal neoplasia in the mouse. Cell 75:631-639
    • (1993) Cell , vol.75 , pp. 631-639
    • Dietrich, W.F.1    Lander, E.S.2    Smith, J.S.3    Moser, A.R.4    Gould, K.A.5    Luongo, C.6    Borenstein, N.7
  • 10
    • 0027379865 scopus 로고
    • An analysis of variation in expression of neurorlbromatosis (NF) type 1 (NF1): Evidence for modifying genes
    • Easton DF, Ponder MA, Huson SM, Ponder BAJ (1993) An analysis of variation in expression of neurorlbromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet 53:305-313
    • (1993) Am J Hum Genet , vol.53 , pp. 305-313
    • Easton, D.F.1    Ma, P.2    Huson, S.M.3    Ponder, B.A.J.4
  • 13
    • 0030482695 scopus 로고    scopus 로고
    • Mom-1 is a semi-dominant modifier of intestinal adenoma size and multiplicity in Min/+ mice
    • Gould KA, Dietrich WF, Borenstein N, Lander ES, Dove WF (1996) Mom-1 is a semi-dominant modifier of intestinal adenoma size and multiplicity in Min/+ mice. Genetics 144:1769-1776
    • (1996) Genetics , vol.144 , pp. 1769-1776
    • Gould, K.A.1    Dietrich, W.F.2    Borenstein, N.3    Lander, E.S.4    Dove, W.F.5
  • 15
  • 16
    • 0026864932 scopus 로고
    • Isolation and characterization of 19 dinucleotide repeat polymorphisms on chromosome 3p
    • Jones MH, Yamakawa K, Nakamura Y (1992) Isolation and characterization of 19 dinucleotide repeat polymorphisms on chromosome 3p. Hum Mol Genet 1:131-133
    • (1992) Hum Mol Genet , vol.1 , pp. 131-133
    • Jones, M.H.1    Yamakawa, K.2    Nakamura, Y.3
  • 17
    • 0027938458 scopus 로고
    • Somatic mutations of the von HippeiLindau tumor suppressor gene in sporadic central nervous system hemangioblastomas
    • Kanno H, Kondo K, Ito S, Yamamoto I, Fujii S, Torigoe T, Sakai N, et al (1994) Somatic mutations of the von HippeiLindau tumor suppressor gene in sporadic central nervous system hemangioblastomas. Cancer Res 54:4845-4847
    • (1994) Cancer Res , vol.54 , pp. 4845-4847
    • Kanno, H.1    Kondo, K.2    Ito, S.3    Yamamoto, I.4    Fujii, S.5    Torigoe, T.6    Sakai, N.7
  • 18
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson AG (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820-823
    • (1971) Proc Natl Acad Sci USA , vol.68 , pp. 820-823
    • Knudson, A.G.1
  • 20
    • 0031445126 scopus 로고    scopus 로고
    • Von Hippel-Lindau disease
    • Maher ER, Kaelin WG (1997) von Hippel-Lindau disease. Medicine 76:381-391
    • (1997) Medicine , vol.76 , pp. 381-391
    • Maher, E.R.1    Kaelin, W.G.2
  • 23
    • 0029893946 scopus 로고    scopus 로고
    • Mutation of the von Hippei-Lindau tumor suppressor gene in capillary haemangioblastomas of the central nervous system
    • Obersrraβ J, Reifenberger G, Reifenberger J, Wechsler W, Collins VP (1996) Mutation of the von Hippei-Lindau tumor suppressor gene in capillary haemangioblastomas of the central nervous system. J Pathol 179:151-156
    • (1996) J Pathol , vol.179 , pp. 151-156
    • Obersrra, J.1    Reifenberger, G.2    Reifenberger, J.3    Wechsler, W.4    Collins, V.P.5
  • 24
    • 13344268996 scopus 로고    scopus 로고
    • Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus
    • Phelan CM, Rebbeck TR, Weber BL, Devilee P, Ruttledge MH, Lynch HT, Lenoir GM, et al (1996) Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nat Genet 12:309-311
    • (1996) Nat Genet , vol.12 , pp. 309-311
    • Phelan, C.M.1    Rebbeck, T.R.2    Weber, B.L.3    Devilee, P.4    Ruttledge, M.H.5    Lynch, H.T.6    Lenoir, G.M.7
  • 26
    • 0029021815 scopus 로고
    • Diagnosis of polymorphisms in carcinogen activating and inactivating enzymes and cancer susceptibility-a review
    • Raunio H, Husgafvel-Pursiainen K, Anttila S, Hietanan E, Hirvonen A, Pelkonen O (1995) Diagnosis of polymorphisms in carcinogen activating and inactivating enzymes and cancer susceptibility-a review. Gene 159:113-121
    • (1995) Gene , vol.159 , pp. 113-121
    • Raunio, H.1    Husgafvel-Pursiainen, K.2    Anttila, S.3    Hietanan, E.4    Hirvonen, A.5    Pelkonen, O.6
  • 29
    • 0029926989 scopus 로고    scopus 로고
    • Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis
    • Richards FM, Schofield PN, Fleming S, Maher ER (1996) Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis. Hum Mol Genet 5:639-644
    • (1996) Hum Mol Genet , vol.5 , pp. 639-644
    • Richards, F.M.1    Schofield, P.N.2    Fleming, S.3    Maher, E.R.4
  • 30
    • 0031038038 scopus 로고    scopus 로고
    • Cytochrome P450 2D6 variants in a Caucasian population: Allele frequencies and phenotypic consequences
    • Sachse C, Brockmoller J, Bauer S, Roots I (1997) Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences. Am J Hum Genet 60:284-295
    • (1997) Am J Hum Genet , vol.60 , pp. 284-295
    • Sachse, C.1    Brockmoller, J.2    Bauer, S.3    Roots, I.4
  • 31
    • 0027054926 scopus 로고
    • Molecular genetic analysis of the cytochrome P450-debrisoquine hydroxylase locus and association with cancer susceptibility
    • Smith CAD, Moss JE, Gough AC, Spurr NK, Wolf CR (1992) Molecular genetic analysis of the cytochrome P450-debrisoquine hydroxylase locus and association with cancer susceptibility. Environ Health Perspect 98:107-112
    • (1992) Environ Health Perspect , vol.98 , pp. 107-112
    • Cad, S.1    Moss, J.E.2    Gough, A.C.3    Spurr, N.K.4    Wolf, C.R.5
  • 32
    • 0027986502 scopus 로고
    • Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma
    • Whaley JM, Naglich J, Gelbert L, Hsia YE, Lamiell JM, Green JS, Collins D, et al (1994) Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am J Hum Genet 55:1092-1102
    • (1994) Am J Hum Genet , vol.55 , pp. 1092-1102
    • Whaley, J.M.1    Naglich, J.2    Gelbert, L.3    Hsia, Y.E.4    Lamiell, J.M.5    Green, J.S.6    Collins, D.7
  • 33
    • 0027984719 scopus 로고
    • Metabolic polymorphisms in carcinogen metabolising enzymes and cancer susceptibility
    • Wolf CR, Smith CAD, Forman D (1994) Metabolic polymorphisms in carcinogen metabolising enzymes and cancer susceptibility. Br Med Bull 50:718-731
    • (1994) Br Med Bull , vol.50 , pp. 718-731
    • Wolf, C.R.1    Cad, S.2    Forman, D.3
  • 34
    • 16144365122 scopus 로고    scopus 로고
    • Germline mutations in the von Hippel Lindau disease (VHL) gene in families from North America, Europe and Japan
    • Zbar B, Kishida T, Chen F, Schmidt L, Maher ER, Richards FM, Crossey PA, et al (1996) Germline mutations in the von Hippel Lindau disease (VHL) gene in families from North America, Europe and Japan. Hum Mutat 8:348-357
    • (1996) Hum Mutat , vol.8 , pp. 348-357
    • Zbar, B.1    Kishida, T.2    Chen, F.3    Schmidt, L.4    Maher, E.R.5    Richards, F.M.6    Crossey, P.A.7
  • 35
    • 0025778695 scopus 로고
    • Glutathione-S-transferase mu locus: Use of genotyping and phenotyping assays to assess association with lung cancer susceptibility
    • Zhong S, Howie AF, Ketterer B, Taylor J, Hayes JD, Beckett GJ, Wathen CG, et al (1991) Glutathione-S-transferase mu locus: use of genotyping and phenotyping assays to assess association with lung cancer susceptibility. Carcinogenesis 12:1533-1537
    • (1991) Carcinogenesis , vol.12 , pp. 1533-1537
    • Zhong, S.1    Howie, A.F.2    Ketterer, B.3    Taylor, J.4    Hayes, J.D.5    Beckett, G.J.6    Wathen, C.G.7
  • 36
    • 0027370757 scopus 로고
    • Relationship between the GSTM1 genetic polymorphism and susceptibility to bladder, breast and colon cancer
    • Zhong S, Wyllie AH, Barnes D, Wolf CR, Spurr NK (1993) Relationship between the GSTM1 genetic polymorphism and susceptibility to bladder, breast and colon cancer. Carcinogenesis 14:1821-1824
    • (1993) Carcinogenesis , vol.14 , pp. 1821-1824
    • Zhong, S.1    Wyllie, A.H.2    Barnes, D.3    Wolf, C.R.4    Spurr, N.K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.