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Volumn 21, Issue 26, 2012, Pages 5406-5416

Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; METADRENALIN; NORMETADRENALIN;

EID: 84870801743     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds402     Document Type: Article
Times cited : (94)

References (55)
  • 2
    • 84855940667 scopus 로고    scopus 로고
    • Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas
    • Welander, J., Soderkvist, P. and Gimm, O. (2011) Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr. Relat. Cancer, 18, R253-R276.
    • (2011) Endocr. Relat. Cancer , vol.18
    • Welander, J.1    Soderkvist, P.2    Gimm, O.3
  • 4
    • 0025312728 scopus 로고
    • A genetic model for colorectal tumorigenesis
    • Fearon, E.R. and Vogelstein, B. (1990) A genetic model for colorectal tumorigenesis. Cell, 61, 759-767.
    • (1990) Cell , vol.61 , pp. 759-767
    • Fearon, E.R.1    Vogelstein, B.2
  • 6
    • 70149107227 scopus 로고    scopus 로고
    • Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas
    • Waldmann, J., Langer, P., Habbe, N., Fendrich, V., Ramaswamy, A., Rothmund, M., Bartsch, D.K. and Slater, E.P. (2009) Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas. Endocrine, 35, 347-355.
    • (2009) Endocrine , vol.35 , pp. 347-355
    • Waldmann, J.1    Langer, P.2    Habbe, N.3    Fendrich, V.4    Ramaswamy, A.5    Rothmund, M.6    Bartsch, D.K.7    Slater, E.P.8
  • 10
    • 0034671551 scopus 로고    scopus 로고
    • Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma
    • Gimm, O., Armanios, M., Dziema, H., Neumann, H.P. and Eng, C. (2000) Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res., 60, 6822-6825.
    • (2000) Cancer Res , vol.60 , pp. 6822-6825
    • Gimm, O.1    Armanios, M.2    Dziema, H.3    Neumann, H.P.4    Eng, C.5
  • 12
    • 84863208321 scopus 로고    scopus 로고
    • Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytoma
    • Weber, A., Hoffmann, M.M., Neumann, H.P. and Erlic, Z. (2012) Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytoma. Horm. Cancer, 3, 187-192.
    • (2012) Horm. Cancer , vol.3 , pp. 187-192
    • Weber, A.1    Hoffmann, M.M.2    Neumann, H.P.3    Erlic, Z.4
  • 13
    • 19944429270 scopus 로고    scopus 로고
    • Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome
    • Eisenhofer, G., Huynh, T.T., Pacak, K., Brouwers, F.M., Walther, M.M., Linehan, W.M., Munson, P.J., Mannelli, M., Goldstein, D.S. and Elkahloun, A.G. (2004) Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome. Endocr. Relat. Cancer, 11, 897-911.
    • (2004) Endocr. Relat. Cancer , vol.11 , pp. 897-911
    • Eisenhofer, G.1    Huynh, T.T.2    Pacak, K.3    Brouwers, F.M.4    Walther, M.M.5    Linehan, W.M.6    Munson, P.J.7    Mannelli, M.8    Goldstein, D.S.9    Elkahloun, A.G.10
  • 21
    • 0030875888 scopus 로고    scopus 로고
    • 'Cold' single-strand conformational variants for mutation analysis of the RET protooncogene
    • 363-370; discussion
    • Musholt, P.B., Musholt, T.J., Goodfellow, P.J., Zehnbauer, B.A., Wells, S.A. Jr. and Moley, J.F. (1997) 'Cold' single-strand conformational variants for mutation analysis of the RET protooncogene. Surgery, 122, 363-370; discussion 370-361.
    • (1997) Surgery , vol.122 , pp. 370-361
    • Musholt, P.B.1    Musholt, T.J.2    Goodfellow, P.J.3    Zehnbauer, B.A.4    Wells Jr., S.A.5    Moley, J.F.6
  • 24
    • 67651198212 scopus 로고    scopus 로고
    • An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis
    • van Nederveen, F.H., Gaal, J., Favier, J., Korpershoek, E., Oldenburg, R.A., de Bruyn, E.M., Sleddens, H.F., Derkx, P., Riviere, J., Dannenberg, H. et al. (2009) An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol., 10, 764-771.
    • (2009) Lancet Oncol , vol.10 , pp. 764-771
    • van Nederveen, F.H.1    Gaal, J.2    Favier, J.3    Korpershoek, E.4    Oldenburg, R.A.5    de Bruyn, E.M.6    Sleddens, H.F.7    Derkx, P.8    Riviere, J.9    Dannenberg, H.10
  • 29
    • 0035853287 scopus 로고    scopus 로고
    • A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition
    • Fang, L.J., Simard, M.J., Vidaud, D., Assouline, B., Lemieux, B., Vidaud, M., Chabot, B. and Thirion, J.P. (2001) A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition. J. Mol. Biol., 307, 1261-1270.
    • (2001) J. Mol. Biol. , vol.307 , pp. 1261-1270
    • Fang, L.J.1    Simard, M.J.2    Vidaud, D.3    Assouline, B.4    Lemieux, B.5    Vidaud, M.6    Chabot, B.7    Thirion, J.P.8
  • 30
    • 34247197937 scopus 로고    scopus 로고
    • The nonsense-mediated decay RNA surveillance pathway
    • Chang, Y.F., Imam, J.S. and Wilkinson, M.F. (2007) The nonsense-mediated decay RNA surveillance pathway. Annu. Rev. Biochem., 76, 51-74.
    • (2007) Annu. Rev. Biochem. , vol.76 , pp. 51-74
    • Chang, Y.F.1    Imam, J.S.2    Wilkinson, M.F.3
  • 31
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • International HapMap Consortium
    • International HapMap Consortium (2005) A haplotype map of the human genome. Nature, 437, 1299-1320.
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 33
    • 0029919109 scopus 로고    scopus 로고
    • Hereditary cancer: two hits revisited
    • Knudson, A.G. (1996) Hereditary cancer: two hits revisited. J. Cancer Res. Clin. Oncol., 122, 135-140.
    • (1996) J. Cancer Res. Clin. Oncol. , vol.122 , pp. 135-140
    • Knudson, A.G.1
  • 34
    • 20144388300 scopus 로고    scopus 로고
    • Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1 H19 and preferential 11p15. 5 maternal-allele loss in von Hippel-Lindau and sporadic pheochromocytomas
    • Margetts, C.D., Astuti, D., Gentle, D.C., Cooper, W.N., Cascon, A., Catchpoole, D., Robledo, M., Neumann, H.P., Latif, F. and Maher, E.R. (2005) Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic pheochromocytomas. Endocr. Relat. Cancer, 12, 161-172.
    • (2005) Endocr. Relat. Cancer , vol.12 , pp. 161-172
    • Margetts, C.D.1    Astuti, D.2    Gentle, D.C.3    Cooper, W.N.4    Cascon, A.5    Catchpoole, D.6    Robledo, M.7    Neumann, H.P.8    Latif, F.9    Maher, E.R.10
  • 36
    • 54549108740 scopus 로고    scopus 로고
    • Comprehensive genomic characterization defines human glioblastoma genes and core pathways
    • Cancer Genome Atlas Research Network
    • Cancer Genome Atlas Research Network (2008) Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature, 455, 1061-1068.
    • (2008) Nature , vol.455 , pp. 1061-1068
  • 37
    • 73649123907 scopus 로고    scopus 로고
    • Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1
    • Verhaak, R.G., Hoadley, K.A., Purdom, E., Wang, V., Qi, Y., Wilkerson, M.D., Miller, C.R., Ding, L., Golub, T., Mesirov, J.P. et al. (2010) Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell, 17, 98-110.
    • (2010) Cancer Cell , vol.17 , pp. 98-110
    • Verhaak, R.G.1    Hoadley, K.A.2    Purdom, E.3    Wang, V.4    Qi, Y.5    Wilkerson, M.D.6    Miller, C.R.7    Ding, L.8    Golub, T.9    Mesirov, J.P.10
  • 39
    • 79959838081 scopus 로고    scopus 로고
    • Integrated genomic analyses of ovarian carcinoma
    • Cancer Genome Atlas Research Network
    • Cancer Genome Atlas Research Network (2011) Integrated genomic analyses of ovarian carcinoma. Nature, 474, 609-615.
    • (2011) Nature , vol.474 , pp. 609-615
  • 41
    • 10744220011 scopus 로고    scopus 로고
    • Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors
    • Upadhyaya, M., Han, S., Consoli, C., Majounie, E., Horan, M., Thomas, N.S., Potts, C., Griffiths, S., Ruggieri, M., von Deimling, A. et al. (2004) Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Hum. Mutat., 23, 134-146.
    • (2004) Hum. Mutat. , vol.23 , pp. 134-146
    • Upadhyaya, M.1    Han, S.2    Consoli, C.3    Majounie, E.4    Horan, M.5    Thomas, N.S.6    Potts, C.7    Griffiths, S.8    Ruggieri, M.9    von Deimling, A.10
  • 42
    • 34248338233 scopus 로고    scopus 로고
    • Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption
    • Wimmer, K., Roca, X., Beiglbock, H., Callens, T., Etzler, J., Rao, A.R., Krainer, A.R., Fonatsch, C. and Messiaen, L. (2007) Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption. Hum. Mutat., 28, 599-612.
    • (2007) Hum. Mutat. , vol.28 , pp. 599-612
    • Wimmer, K.1    Roca, X.2    Beiglbock, H.3    Callens, T.4    Etzler, J.5    Rao, A.R.6    Krainer, A.R.7    Fonatsch, C.8    Messiaen, L.9
  • 43
    • 0033966774 scopus 로고    scopus 로고
    • Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
    • Ars, E., Serra, E., Garcia, J., Kruyer, H., Gaona, A., Lazaro, C. and Estivill, X. (2000) Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum. Mol. Genet., 9, 237-247.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 237-247
    • Ars, E.1    Serra, E.2    Garcia, J.3    Kruyer, H.4    Gaona, A.5    Lazaro, C.6    Estivill, X.7
  • 44
    • 0029880743 scopus 로고    scopus 로고
    • Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms
    • Gasparini, P., D'Agruma, L., Pio de Cillis, G., Balestrazzi, P., Mingarelli, R. and Zelante, L. (1996) Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms. Hum. Genet., 97, 492-495.
    • (1996) Hum. Genet. , vol.97 , pp. 492-495
    • Gasparini, P.1    D'Agruma, L.2    Pio de Cillis, G.3    Balestrazzi, P.4    Mingarelli, R.5    Zelante, L.6
  • 48
    • 44949231424 scopus 로고    scopus 로고
    • Analyzing real-time PCR data by the comparative C(T) method
    • Schmittgen, T.D. and Livak, K.J. (2008) Analyzing real-time PCR data by the comparative C(T) method. Nat. Protoc., 3, 1101-1108.
    • (2008) Nat. Protoc. , vol.3 , pp. 1101-1108
    • Schmittgen, T.D.1    Livak, K.J.2
  • 50
    • 84856921335 scopus 로고    scopus 로고
    • Alternative splicing of the neurofibromatosis type I pre-mRNA
    • Barron, V.A. and Lou, H. (2012) Alternative splicing of the neurofibromatosis type I pre-mRNA. Biosci. Rep., 32, 131-138.
    • (2012) Biosci. Rep. , vol.32 , pp. 131-138
    • Barron, V.A.1    Lou, H.2
  • 51
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression
    • Shapiro, M.B. and Senapathy, P. (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7174.
    • (1987) Nucleic Acids Res , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 53
    • 0036856355 scopus 로고    scopus 로고
    • MethPrimer: designing primers for methylation PCRs
    • Li, L.C. and Dahiya, R. (2002) MethPrimer: designing primers for methylation PCRs. Bioinformatics, 18, 1427-1431.
    • (2002) Bioinformatics , vol.18 , pp. 1427-1431
    • Li, L.C.1    Dahiya, R.2
  • 54
    • 33644510421 scopus 로고    scopus 로고
    • Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer
    • Banks, R.E., Tirukonda, P., Taylor, C., Hornigold, N., Astuti, D., Cohen, D., Maher, E.R., Stanley, A.J., Harnden, P., Joyce, A. et al. (2006) Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. Cancer Res., 66, 2000-2011.
    • (2006) Cancer Res , vol.66 , pp. 2000-2011
    • Banks, R.E.1    Tirukonda, P.2    Taylor, C.3    Hornigold, N.4    Astuti, D.5    Cohen, D.6    Maher, E.R.7    Stanley, A.J.8    Harnden, P.9    Joyce, A.10
  • 55
    • 0034772724 scopus 로고    scopus 로고
    • Promoter hypermethylation of multiple genes in carcinoma of the uterine cervix
    • Dong, S.M., Kim, H.S., Rha, S.H. and Sidransky, D. (2001) Promoter hypermethylation of multiple genes in carcinoma of the uterine cervix. Clin. Cancer Res., 7, 1982-1986.
    • (2001) Clin. Cancer Res. , vol.7 , pp. 1982-1986
    • Dong, S.M.1    Kim, H.S.2    Rha, S.H.3    Sidransky, D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.