메뉴 건너뛰기




Volumn 3, Issue 4, 2012, Pages 187-192

Somatic Mutation Analysis of the SDHB, SDHC, SDHD, and RET Genes in the Clinical Assessment of Sporadic and Hereditary Pheochromocytoma

Author keywords

[No Author keywords available]

Indexed keywords

ONCOPROTEIN; PARAGANGLIOMA SYNDROMES TYPE 1; PARAGANGLIOMA SYNDROMES TYPE 3; PARAGANGLIOMA SYNDROMES TYPE 4; UNCLASSIFIED DRUG; VON HIPPEL LINDAU PROTEIN;

EID: 84863208321     PISSN: 18688497     EISSN: 18688500     Source Type: Journal    
DOI: 10.1007/s12672-012-0113-y     Document Type: Article
Times cited : (20)

References (27)
  • 1
    • 68549092484 scopus 로고    scopus 로고
    • The approach to the patient with paraganglioma
    • Neumann HP, Eng C (2009) The approach to the patient with paraganglioma. J Clin Endocrinol Metab 94(8): 2677-2683.
    • (2009) J Clin Endocrinol Metab , vol.94 , Issue.8 , pp. 2677-2683
    • Neumann, H.P.1    Eng, C.2
  • 2
    • 63049097576 scopus 로고    scopus 로고
    • Familial pheochromocytoma
    • Erlic Z, Neumann HP (2009) Familial pheochromocytoma. Hormones (Athens) 8(1): 29-38.
    • (2009) Hormones (Athens) , vol.8 , Issue.1 , pp. 29-38
    • Erlic, Z.1    Neumann, H.P.2
  • 3
    • 77649175595 scopus 로고    scopus 로고
    • Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
    • Qin Y, Yao L, King EE et al (2010) Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet 42(3): 229-233.
    • (2010) Nat Genet , vol.42 , Issue.3 , pp. 229-233
    • Qin, Y.1    Yao, L.2    King, E.E.3
  • 4
    • 78650200503 scopus 로고    scopus 로고
    • Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas
    • Yao L, Schiavi F, Cascon A et al (2010) Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA 304(23): 2611-2619.
    • (2010) Jama , vol.304 , Issue.23 , pp. 2611-2619
    • Yao, L.1    Schiavi, F.2    Cascon, A.3
  • 5
    • 79961228236 scopus 로고    scopus 로고
    • Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites
    • Neumann HP, Sullivan M, Winter A et al (2011) Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. J Clin Endocrinol Metab 96(8): E1279-E1282.
    • (2011) J Clin Endocrinol Metab , vol.96 , Issue.8
    • Neumann, H.P.1    Sullivan, M.2    Winter, A.3
  • 6
    • 79959752614 scopus 로고    scopus 로고
    • Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
    • Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F et al (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 43(7): 663-667.
    • (2011) Nat Genet , vol.43 , Issue.7 , pp. 663-667
    • Comino-Méndez, I.1    Gracia-Aznárez, F.J.2    Schiavi, F.3
  • 7
    • 77958164441 scopus 로고    scopus 로고
    • SDHA is a tumor suppressor gene causing paraganglioma
    • Burnichon N, Brière JJ, Libé R et al (2010) SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 19(15): 3011-3020.
    • (2010) Hum Mol Genet , vol.19 , Issue.15 , pp. 3011-3020
    • Burnichon, N.1    Brière, J.J.2    Libé, R.3
  • 8
    • 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(4): 820-823.
    • (1971) Proc Natl Acad Sci USA , vol.68 , Issue.4 , pp. 820-823
    • Knudson, A.G.1
  • 9
    • 0028788184 scopus 로고
    • Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas
    • Eng C, Crossey PA, Mulligan LM et al (1995) Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J Med Genet 32(12): 934-937.
    • (1995) J Med Genet , vol.32 , Issue.12 , pp. 934-937
    • Eng, C.1    Crossey, P.A.2    Mulligan, L.M.3
  • 10
    • 0034485464 scopus 로고    scopus 로고
    • Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas
    • Bender BU, Gutsche M, Gläsker S et al (2000) Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas. J Clin Endocrinol Metab 85(12): 4568-4574.
    • (2000) J Clin Endocrinol Metab , vol.85 , Issue.12 , pp. 4568-4574
    • Bender, B.U.1    Gutsche, M.2    Gläsker, S.3
  • 11
    • 18444375876 scopus 로고    scopus 로고
    • Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas
    • Kytölä S, Nord B, Elder EE et al (2002) Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas. Gene Chromosome Canc 34(3): 325-332.
    • (2002) Gene Chromosome Canc , vol.34 , Issue.3 , pp. 325-332
    • Kytölä, S.1    Nord, B.2    Elder, E.E.3
  • 12
    • 15744369194 scopus 로고    scopus 로고
    • Clinical characteristics of pheochromocytoma patients with germline mutations in SDHD
    • Dannenberg H, van Nederveen FH, Abbou M et al (2005) Clinical characteristics of pheochromocytoma patients with germline mutations in SDHD. J Clin Oncol 23(9): 1894-1901.
    • (2005) J Clin Oncol , vol.23 , Issue.9 , pp. 1894-1901
    • Dannenberg, H.1    van Nederveen, F.H.2    Abbou, M.3
  • 13
    • 34547819216 scopus 로고    scopus 로고
    • Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma
    • Korpershoek E, Petri BJ, van Nederveen FH et al (2007) Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma. Endocr Relat Cancer 14(2): 453-462.
    • (2007) Endocr Relat Cancer , vol.14 , Issue.2 , pp. 453-462
    • Korpershoek, E.1    Petri, B.J.2    van Nederveen, F.H.3
  • 14
    • 0036774422 scopus 로고    scopus 로고
    • Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma
    • Gimenez-Roqueplo AP, Favier J, Rustin P et al (2002) Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. J Clin Endocrinol Metab 87(10): 4771-4774.
    • (2002) J Clin Endocrinol Metab , vol.87 , Issue.10 , pp. 4771-4774
    • Gimenez-Roqueplo, A.P.1    Favier, J.2    Rustin, P.3
  • 15
    • 2942576715 scopus 로고    scopus 로고
    • Genetic and epigenetic profile of sporadic pheochromocytomas
    • Cascon A, Ruiz-Llorente S, Fraga MF et al (2004) Genetic and epigenetic profile of sporadic pheochromocytomas. J Med Genet 41(3): e30.
    • (2004) J Med Genet , vol.41 , Issue.3
    • Cascon, A.1    Ruiz-Llorente, S.2    Fraga, M.F.3
  • 16
    • 0141704510 scopus 로고    scopus 로고
    • Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas
    • Gimenez-Roqueplo AP, Favier J, Rustin P et al (2003) Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res 63(17): 5615-5621.
    • (2003) Cancer Res , vol.63 , Issue.17 , pp. 5615-5621
    • Gimenez-Roqueplo, A.P.1    Favier, J.2    Rustin, P.3
  • 17
    • 10844287188 scopus 로고    scopus 로고
    • Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma
    • Astuti D, Morris M, Krona C et al (2004) Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma. Br J Cancer 91(10): 1835-1841.
    • (2004) Br J Cancer , vol.91 , Issue.10 , pp. 1835-1841
    • Astuti, D.1    Morris, M.2    Krona, C.3
  • 18
    • 34347358627 scopus 로고    scopus 로고
    • LOH on chromosome 11q, but not SDHD and Men1 mutations was frequently detectable in Chinese patients with pheochromocytoma and paraganglioma
    • Sun HY, Cui B, Su DW et al (2006) LOH on chromosome 11q, but not SDHD and Men1 mutations was frequently detectable in Chinese patients with pheochromocytoma and paraganglioma. Endocrine 30(3): 307-312.
    • (2006) Endocrine , vol.30 , Issue.3 , pp. 307-312
    • Sun, H.Y.1    Cui, B.2    Su, D.W.3
  • 19
    • 34447520170 scopus 로고    scopus 로고
    • Somatic SDHB mutation in an extraadrenal pheochromocytoma
    • van Nederveen FH, Korpershoek E, Lenders JW et al (2007) Somatic SDHB mutation in an extraadrenal pheochromocytoma. N Engl J Med 357(3): 306-308.
    • (2007) N Engl J Med , vol.357 , Issue.3 , pp. 306-308
    • van Nederveen, F.H.1    Korpershoek, E.2    Lenders, J.W.3
  • 20
    • 0037422207 scopus 로고    scopus 로고
    • Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas
    • Benn DE, Croxson MS, Tucker K et al (2003) Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. Oncogen 22(9): 1358-1364.
    • (2003) Oncogen , vol.22 , Issue.9 , pp. 1358-1364
    • Benn, D.E.1    Croxson, M.S.2    Tucker, K.3
  • 21
    • 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 et al (2000) Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res 60(24): 6822-6825.
    • (2000) Cancer Res , vol.60 , Issue.24 , pp. 6822-6825
    • Gimm, O.1    Armanios, M.2    Dziema, H.3
  • 22
    • 70350217774 scopus 로고    scopus 로고
    • Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients
    • Erlic Z, Rybicki L, Peczkowska M et al (2009) Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clin Cancer Res 15(20): 6378-6385.
    • (2009) Clin Cancer Res , vol.15 , Issue.20 , pp. 6378-6385
    • Erlic, Z.1    Rybicki, L.2    Peczkowska, M.3
  • 23
    • 43249105719 scopus 로고    scopus 로고
    • Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation
    • Pigny P, Vincent A, Cardot Bauters C et al (2008) Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. J Clin Endocrinol Metab 93(5): 1609-1615.
    • (2008) J Clin Endocrinol Metab , vol.93 , Issue.5 , pp. 1609-1615
    • Pigny, P.1    Vincent, A.2    Cardot Bauters, C.3
  • 24
    • 43249085940 scopus 로고    scopus 로고
    • Maternal transmission of symptomatic disease with SDHD mutation: fact or fiction?
    • Neumann HP, Erlic Z (2008) Maternal transmission of symptomatic disease with SDHD mutation: fact or fiction? J Clin Endocrinol Metab 93(5): 1573-1575.
    • (2008) J Clin Endocrinol Metab , vol.93 , Issue.5 , pp. 1573-1575
    • Neumann, H.P.1    Erlic, Z.2
  • 25
    • 22944440056 scopus 로고    scopus 로고
    • Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas
    • Braun S, Riemann K, Kupka S et al (2005) Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas. Anticancer Res 25(4): 2809-2814.
    • (2005) Anticancer Res , vol.25 , Issue.4 , pp. 2809-2814
    • Braun, S.1    Riemann, K.2    Kupka, S.3
  • 26
    • 78649404935 scopus 로고    scopus 로고
    • Research resource: transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas
    • López-Jiménez E, Gómez-López G, Leandro-García LJ et al (2010) Research resource: transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas. Mol Endocrinol 24(12): 2382-2391.
    • (2010) Mol Endocrinol , vol.24 , Issue.12 , pp. 2382-2391
    • López-Jiménez, E.1    Gómez-López, G.2    Leandro-García, L.J.3
  • 27
    • 85047699831 scopus 로고    scopus 로고
    • Somatic VHL gene deletion and point mutation in MEN 2A-associated pheochromocytoma
    • Koch CA, Huang SC, Zhuang Z et al (2002) Somatic VHL gene deletion and point mutation in MEN 2A-associated pheochromocytoma. Oncogene 21(3): 479-482.
    • (2002) Oncogene , vol.21 , Issue.3 , pp. 479-482
    • Koch, C.A.1    Huang, S.C.2    Zhuang, Z.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.