메뉴 건너뛰기




Volumn 32, Issue 4, 2010, Pages 275-283

Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management

Author keywords

Genetic screening; Large deletion; Mutation; Paraganglioma; SDH

Indexed keywords

SUCCINATE DEHYDROGENASE;

EID: 77953449767     PISSN: 15705870     EISSN: None     Source Type: Journal    
DOI: 10.3233/CLO-2009-0498     Document Type: Article
Times cited : (27)

References (34)
  • 1
    • 10744221056 scopus 로고    scopus 로고
    • Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility
    • D. Astuti, N. Hart-Holden, F. Latif et al., Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility, Clin. Endocrinol. 59 (2003), 728-733.
    • (2003) Clin. Endocrinol. , vol.59 , pp. 728-733
    • Astuti, D.1    Hart-Holden, N.2    Latif, F.3
  • 2
    • 16544392925 scopus 로고    scopus 로고
    • The prevalence of SDHB, SDHC and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features
    • R.F. Badenhop, J.C. Jansen, P.A. Fagan et al., The prevalence of SDHB, SDHC and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features, J. Med. Genet. 41 (2004), e99.
    • (2004) J. Med. Genet. , vol.41
    • Badenhop, R.F.1    Jansen, J.C.2    Fagan, P.A.3
  • 3
    • 29144484161 scopus 로고    scopus 로고
    • The SDH mutation database: An online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paragan-glioma and mitochondrial complex II deficiency
    • J.P. Bayley, P. Devilee and P.E. Taschner, The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paragan-glioma and mitochondrial complex II deficiency, BMC Med. Genet. 6 (2005), 39.
    • (2005) BMC Med. Genet. , vol.6 , pp. 39
    • Bayley, J.P.1    Devilee, P.2    Taschner, P.E.3
  • 4
    • 31344478803 scopus 로고    scopus 로고
    • Mutation analysis of SDHB and SDHC: Novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
    • J.P. Bayley, I. van Minderhout, M.M. Weiss et al., Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma, BMC Med. Genet. 7 (2006), 1.
    • (2006) BMC Med. Genet. , vol.7 , pp. 1
    • Bayley, J.P.1    Van Minderhout, I.2    Weiss, M.M.3
  • 5
    • 56049122457 scopus 로고    scopus 로고
    • Clinical and molecular progress in hereditary paraganglioma
    • B.E. Baysal, Clinical and molecular progress in hereditary paraganglioma, J. Med. Genet. 45 (2008), 689-694.
    • (2008) J. Med. Genet. , vol.45 , pp. 689-694
    • Baysal, B.E.1
  • 7
    • 18344381765 scopus 로고    scopus 로고
    • Prevalence of SDHB, SDHC and SDHD germline mutations in clinic patients with head and neck paragangliomas
    • B.E. Baysal, J.E. Willett-Brozick, E.C. Lawrence et al., Prevalence of SDHB, SDHC and SDHD germline mutations in clinic patients with head and neck paragangliomas, J. Med. Genet. 39 (2002), 178-183.
    • (2002) J. Med. Genet. , vol.39 , pp. 178-183
    • Baysal, B.E.1    Willett-Brozick, J.E.2    Lawrence, E.C.3
  • 8
    • 2942576715 scopus 로고    scopus 로고
    • Genetic and epi-genetic profile of sporadic pheochromocytomas
    • A. Cascon, S. Ruiz-Llorente, M.F. Fraga et al., Genetic and epi-genetic profile of sporadic pheochromocytomas, J. Med. Genet. 41 (2004), e30.
    • (2004) J. Med. Genet. , vol.41
    • Cascon, A.1    Ruiz-Llorente, S.2    Fraga, M.F.3
  • 9
  • 10
    • 3142516125 scopus 로고    scopus 로고
    • Molecular genetic alterations in adrenal and extra-adrenal pheochromocytomas and paragangliomas
    • H. Dannenberg, P. Komminoth, W.N. Dinjens, E.J. Speel and R.R. de Krijger, Molecular genetic alterations in adrenal and extra-adrenal pheochromocytomas and paragangliomas, Endocr. Pathol. 14 (2003), 329-350.
    • (2003) Endocr. Pathol. , vol.14 , pp. 329-350
    • Dannenberg, H.1    Komminoth, P.2    Dinjens, W.N.3    Speel, E.J.4    Krijger De, R.R.5
  • 12
    • 0034671551 scopus 로고    scopus 로고
    • Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromo-cytoma
    • O. Gimm, M. Armanios, H. Dziema, H.P. Neumann and C. Eng, Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromo-cytoma, Cancer Res. 60 (2000), 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
  • 13
    • 0016197604 scopus 로고
    • Amino acid difference formula to help explain protein evolution
    • R. Grantham, Amino acid difference formula to help explain protein evolution, Science 185 (1974), 862-864.
    • (1974) Science , vol.185 , pp. 862-864
    • Grantham, R.1
  • 14
    • 2942561954 scopus 로고    scopus 로고
    • Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families
    • E.F. Hensen, E.S. Jordanova, I.J. van Minderhout et al., Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families, Oncogene 23 (2004), 4076-4083.
    • (2004) Oncogene , vol.23 , pp. 4076-4083
    • Hensen, E.F.1    Jordanova, E.S.2    Minderhout Van, I.J.3
  • 15
    • 0034772603 scopus 로고    scopus 로고
    • Glomus tympanicum and glomus jugulare tumors
    • C.G. Jackson, Glomus tympanicum and glomus jugulare tumors, Otolaryngol. Clin. North Am. 34 (2001), 941-970.
    • (2001) Otolaryngol. Clin. North Am. , vol.34 , pp. 941-970
    • Jackson, C.G.1
  • 16
    • 0036468725 scopus 로고    scopus 로고
    • National Cancer Data Base report on malignant paragangliomas of the head and neck
    • J.H. Lee, F. Barich, L.H. Karnell et al., National Cancer Data Base report on malignant paragangliomas of the head and neck, Cancer 94 (2002), 730-737.
    • (2002) Cancer , vol.94 , pp. 730-737
    • Lee, J.H.1    Barich, F.2    Karnell, L.H.3
  • 20
    • 7244256010 scopus 로고    scopus 로고
    • SDHB SDHC and SDHD mutation screen in sporadic and familial head and neck paragangliomas
    • A.N. Mhatre, Y. Li, L. Feng, A. Gasperin and A.K. Lalwani, SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas, Clin. Genet. 66 (2004), 461-466.
    • (2004) Clin. Genet. , vol.66 , pp. 461-466
    • Mhatre, A.N.1    Li, Y.2    Feng, L.3    Gasperin, A.4    Lalwani, A.K.5
  • 22
    • 66049145825 scopus 로고    scopus 로고
    • Clinical predictors for germline mutations in head and neck paraganglioma patients: Cost reduction strategy in genetic diagnostic process as fall-out
    • H.P. Neumann, Z. Erlic, C.C. Boedeker et al., Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out, Cancer Res. 69 (2009), 3650-3656.
    • (2009) Cancer Res. , vol.69 , pp. 3650-3656
    • Neumann, H.P.1    Erlic, Z.2    Boedeker, C.C.3
  • 23
    • 4143105824 scopus 로고    scopus 로고
    • Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
    • H.P. Neumann, C. Pawlu, M. Peczkowska et al., Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations, JAMA 292 (2004), 943-951.
    • (2004) JAMA , vol.292 , pp. 943-951
    • Neumann, H.P.1    Pawlu, C.2    Peczkowska, M.3
  • 25
    • 54449085369 scopus 로고    scopus 로고
    • High prevalence of SDHB mutations in head and neck paraganglioma in Belgium
    • A. Persu, M. Hamoir, V. Grégoire et al., High prevalence of SDHB mutations in head and neck paraganglioma in Belgium, J. Hypertens. 26 (2008), 1395-1401.
    • (2008) J. Hypertens. , vol.26 , pp. 1395-1401
    • Persu, A.1    Hamoir, M.2    Grégoire, V.3
  • 26
    • 1542360074 scopus 로고    scopus 로고
    • Which paragangliomas of the head and neck have a higher rate of malignancy?
    • A. Rinaldo, D. Myssiorek, K.O. Devaney and A. Ferlito, Which paragangliomas of the head and neck have a higher rate of malignancy?, Oral Oncol. 40 (2004), 458-460.
    • (2004) Oral Oncol. , vol.40 , pp. 458-460
    • Rinaldo, A.1    Myssiorek, D.2    Devaney, K.O.3    Ferlito, A.4
  • 27
    • 4544223920 scopus 로고    scopus 로고
    • Management of jugular paragangliomas: The Gruppo Otologico experience
    • M. Sanna, Y. Jain, G. De Donato, Rohit, L. Lauda and A. Taibah, Management of jugular paragangliomas: the Gruppo Otologico experience, Otol. Neurotol. 25 (2004), 797-804.
    • (2004) Otol. Neurotol. , vol.25 , pp. 797-804
    • Sanna, M.1    Jain, Y.2    De Donato, G.3    Lauda, R.L.4    Taibah, A.5
  • 28
    • 27244446452 scopus 로고    scopus 로고
    • Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene
    • F. Schiavi, C.C. Boedeker, B. Bausch et al., Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene, JAMA 294 (2005), 2057-2063.
    • (2005) JAMA , vol.294 , pp. 2057-2063
    • Schiavi, F.1    Boedeker, C.C.2    Bausch, B.3
  • 29
    • 33845509929 scopus 로고    scopus 로고
    • Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas
    • F. Schiavi, T. Savvoukidis, F. Trabalzini et al., Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas, Ann. N. Y. Acad. Sci. 1073 (2006), 190-197.
    • (2006) Ann. N. Y. Acad. Sci. , vol.1073 , pp. 190-197
    • Schiavi, F.1    Savvoukidis, T.2    Trabalzini, F.3
  • 30
    • 33750034550 scopus 로고    scopus 로고
    • Tumors of familial origin in the head and neck
    • C. Suárez, J.P. Rodrigo, A. Ferlito et al., Tumors of familial origin in the head and neck, Oral Oncol. 42 (2006), 965-978.
    • (2006) Oral Oncol. , vol.42 , pp. 965-978
    • Suárez, C.1    Rodrigo, J.P.2    Ferlito, A.3
  • 34
    • 0034773051 scopus 로고    scopus 로고
    • Paragangliomas: Classification, pathology, and differential diagnosis
    • P.G. Wasserman and P. Savargaonkar, Paragangliomas: Classification, pathology, and differential diagnosis, Otolaryngol. Clin. North Am. 34 (2001), 845-862.
    • (2001) Otolaryngol. Clin. North Am. , vol.34 , pp. 845-862
    • Wasserman, P.G.1    Savargaonkar, P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.