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Volumn 83, Issue 6, 2012, Pages 511-518

Genetics of pheochromocytoma;Genetik der Phäochromozytome

Author keywords

Hereditary pheochromocytoma; Molecular genetic; Paraganglioma; Pheochromocytoma; Pheochromocytoma associated syndromes

Indexed keywords

ADOLESCENT; ADRENAL TUMOR; ADULT; AGED; ARTICLE; CHILD; FEMALE; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE DETECTION; HUMAN; INFANT; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PHEOCHROMOCYTOMA; PRESCHOOL CHILD; SYNDROME;

EID: 84862501535     PISSN: 00094722     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00104-011-2191-8     Document Type: Article
Times cited : (6)

References (29)
  • 1
    • 0023885121 scopus 로고
    • Neurofibromatosis. Conference statement. National institutes of health consensus development conference
    • Anonymous
    • Anonymous (1988) Neurofibromatosis. Conference statement. National institutes of health consensus development conference. Arch Neurol 45:575-578
    • (1988) Arch Neurol , vol.45 , pp. 575-578
  • 2
    • 79251478772 scopus 로고    scopus 로고
    • Mutation analysis of HIF prolyl hydroxylases (PHD/ EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility
    • Astuti D, Ricketts CJ, Chowdhury R et al (2010) Mutation analysis of HIF prolyl hydroxylases (PHD/ EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility. Endocr Relat Cancer 18:73-83
    • (2010) Endocr Relat Cancer , vol.18 , pp. 73-83
    • Astuti, D.1    Ricketts, C.J.2    Chowdhury, R.3
  • 3
    • 34447114512 scopus 로고    scopus 로고
    • Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1
    • Bausch B, Borozdin W, Mautner VF et al (2007) Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab 92:2784-2792
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 2784-2792
    • Bausch, B.1    Borozdin, W.2    Mautner, V.F.3
  • 4
    • 33745275854 scopus 로고    scopus 로고
    • Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma
    • Bausch B, Borozdin W, Neumann HP (2006) Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma. N Engl J Med 354:2729-2731
    • (2006) N Engl J Med , vol.354 , pp. 2729-2731
    • Bausch, B.1    Borozdin, W.2    Neumann, H.P.3
  • 5
    • 77950342008 scopus 로고    scopus 로고
    • SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
    • Bayley JP, Kunst HP, Cascon A et al (2010) SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol 11:366- 372
    • (2010) Lancet Oncol 11:366- , pp. 372
    • Bayley, J.P.1    Kunst, H.P.2    Cascon, A.3
  • 6
    • 77958164441 scopus 로고    scopus 로고
    • SDHA is a tumor suppressor gene causing paraganglioma
    • Burnichon N, Briere JJ, Libe R et al (2010) SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 19:3011-3020
    • (2010) Hum Mol Genet , vol.19 , pp. 3011-3020
    • Burnichon, N.1    Briere, J.J.2    Libe, R.3
  • 7
    • 79959752614 scopus 로고    scopus 로고
    • Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
    • Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F et al (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 43:663-667
    • (2011) Nat Genet , vol.43 , pp. 663-667
    • Comino-Mendez, I.1    Gracia-Aznarez, F.J.2    Schiavi, F.3
  • 9
    • 78650484357 scopus 로고    scopus 로고
    • Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germli- ne RET mutations located in exon 10
    • Frank-Raue K, Rybicki LA, Erlic Z et al (2011) Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germli- ne RET mutations located in exon 10. Hum Mutat 32:51-58
    • (2011) Hum Mutat , vol.32 , pp. 51-58
    • Frank-Raue, K.1    Rybicki, L.A.2    Erlic, Z.3
  • 10
    • 0030957310 scopus 로고    scopus 로고
    • The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
    • Gutmann DH, Aylsworth A, Carey JC et al (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 278:51-57
    • (1997) JAMA , vol.278 , pp. 51-57
    • Gutmann, D.H.1    Aylsworth, A.2    Carey, J.C.3
  • 11
    • 69549088424 scopus 로고    scopus 로고
    • SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma
    • Hao HX, Khalimonchuk O, Schraders M et al (2009) SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 325:1139-1142
    • (2009) Science , vol.325 , pp. 1139-1142
    • Hao, H.X.1    Khalimonchuk, O.2    Schraders, M.3
  • 12
    • 2942561954 scopus 로고    scopus 로고
    • Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families
    • Hensen EF, Jordanova ES, Minderhout IJ van et al (2004) Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene 23:4076-4083
    • (2004) Oncogene , vol.23 , pp. 4076-4083
    • Hensen, E.F.1    Jordanova, E.S.2    van Minderhout, I.J.3
  • 13
    • 67749130797 scopus 로고    scopus 로고
    • Medullary thyroid cancer: Management guidelines of the American Thyroid Association
    • Kloos RT, Eng C, Evans DB et al (2009) Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 19:565-612
    • (2009) Thyroid , vol.19 , pp. 565-612
    • Kloos, R.T.1    Eng, C.2    Evans, D.B.3
  • 14
    • 84862701397 scopus 로고    scopus 로고
    • Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3
    • Malinoc A, Sullivan M, Wiech T et al (2012) Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3. Endocr Relat Cancer [Epub ahead of print]
    • (2012) Endocr Relat Cancer [Epub Ahead of Print]
    • Malinoc, A.1    Sullivan, M.2    Wiech, T.3
  • 15
    • 66149098136 scopus 로고    scopus 로고
    • Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/ or functional or nonfunctional paragangliomas
    • Mannelli M, Castellano M, Schiavi F et al (2009) Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/ or functional or nonfunctional paragangliomas. J Clin Endocrinol Metab 94:1541-1547
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 1541-1547
    • Mannelli, M.1    Castellano, M.2    Schiavi, F.3
  • 16
    • 34548830453 scopus 로고    scopus 로고
    • Genetic screening for pheochromocytoma: Should SDHC gene analysis be included
    • Mannelli M, Ercolino T, Giache V et al (2007) Genetic screening for pheochromocytoma: should SDHC gene analysis be included J Med Genet 44:586-587
    • (2007) J Med Genet , vol.44 , pp. 586-587
    • Mannelli, M.1    Ercolino, T.2    Giache, V.3
  • 17
    • 58249114021 scopus 로고    scopus 로고
    • Age- related neoplastic risk profiles and penetrance es- timations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC > TGG) mutation
    • Milos IN, Frank-Raue K, Wohllk N et al (2008) Age- related neoplastic risk profiles and penetrance es- timations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC > TGG) mutation. Endocr Relat Cancer 15:1035-1041
    • (2008) Endocr Relat Cancer , vol.15 , pp. 1035-1041
    • Milos, I.N.1    Frank-Raue, K.2    Wohllk, N.3
  • 18
    • 54049148638 scopus 로고    scopus 로고
    • KIF1Bbeta functions as a haploinsufficient tumor suppressor gene mapped to chromosome 1p36.2 by inducing apoptotic cell death
    • Munirajan AK, Ando K, Mukai A et al (2008) KIF1Bbeta functions as a haploinsufficient tumor suppressor gene mapped to chromosome 1p36.2 by inducing apoptotic cell death. J Biol Chem 283:24426-24434
    • (2008) J Biol Chem , vol.283 , pp. 24426-24434
    • Munirajan, A.K.1    Ando, K.2    Mukai, A.3
  • 19
    • 33846191683 scopus 로고    scopus 로고
    • Pheochromocytoma
    • In: Fauci A, Longo DL, Braunwald E, Aufl. McGraw-Hill Professional
    • Neumann H (2008) Pheochromocytoma. In: Fauci A, Longo DL, Braunwald E (Hrsg) Harrison's prin- ciples of internal medicine, 17. Aufl. McGraw-Hill Professional
    • (2008) Harrison's Prin- Ciples of Internal Medicine , pp. 17
    • Neumann, H.1
  • 20
    • 0037046659 scopus 로고    scopus 로고
    • Germ-line mutations in nonsyndromic pheochromocytoma
    • Neumann HP, Bausch B, McWhinney SR et al (2002) Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346:1459-1466
    • (2002) N Engl J Med , vol.346 , pp. 1459-1466
    • Neumann, H.P.1    Bausch, B.2    McWhinney, S.R.3
  • 21
    • 4143105824 scopus 로고    scopus 로고
    • Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
    • Neumann HP, Pawlu C, Peczkowska M et al (2004) Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292:943-951
    • (2004) JAMA , vol.292 , pp. 943-951
    • Neumann, H.P.1    Pawlu, C.2    Peczkowska, M.3
  • 22
    • 38549134313 scopus 로고    scopus 로고
    • Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation
    • Peczkowska M, Cascon A, Prejbisz A et al (2008) Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation. Nat Clin Pract Endocrinol Metab 4:111-115
    • (2008) Nat Clin Pract Endocrinol Metab , vol.4 , pp. 111-115
    • Peczkowska, M.1    Cascon, A.2    Prejbisz, A.3
  • 23
    • 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 42:229-233
    • (2010) Nat Genet , vol.42 , pp. 229-233
    • Qin, Y.1    Yao, L.2    King, E.E.3
  • 24
    • 0035347317 scopus 로고    scopus 로고
    • Multiple endocrine neoplasia type 1: New clinical and basic findings
    • Schussheim DH, Skarulis MC, Agarwal SK et al (2001) Multiple endocrine neoplasia type 1: new clinical and basic findings. Trends Endocrinol Metab 12:173-178
    • (2001) Trends Endocrinol Metab , vol.12 , pp. 173-178
    • Schussheim, D.H.1    Skarulis, M.C.2    Agarwal, S.K.3
  • 25
    • 49449100343 scopus 로고    scopus 로고
    • Pheochromocytoma and extraadrenal paraganglioma: Updates
    • Tischler AS (2008) Pheochromocytoma and extraadrenal paraganglioma: updates. Arch Pathol Lab Med 132:1272-1284
    • (2008) Arch Pathol Lab Med , vol.132 , pp. 1272-1284
    • Tischler, A.S.1
  • 26
    • 9144249602 scopus 로고    scopus 로고
    • Early-onset renal cell carcinoma as a no- vel extraparaganglial component of SDHB-associated heritable paraganglioma
    • Vanharanta S, Buchta M, McWhinney SR et al (2004) Early-onset renal cell carcinoma as a no- vel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet 74:153-159
    • (2004) Am J Hum Genet , vol.74 , pp. 153-159
    • Vanharanta, S.1    Buchta, M.2    McWhinney, S.R.3
  • 27
    • 0032825694 scopus 로고    scopus 로고
    • Enquist E et al (1999) von Recklinghausen's disease and pheochromocytomas
    • Walther MM, Herring J, Enquist E et al (1999) von Recklinghausen's disease and pheochromocytomas. J Urol 162:1582-1586
    • J Urols , vol.162 , pp. 1582-1586
    • Walther, M.M.1    Herring, J.2
  • 29
    • 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 304:2611-2619
    • (2010) JAMA , vol.304 , pp. 2611-2619
    • Yao, L.1    Schiavi, F.2    Cascon, A.3


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