A founder SDHB mutation in Portuguese paraganglioma patients

被引:15
作者
Martins, Raquel G. [2 ,3 ]
Nunes, Joana B. [1 ,2 ]
Maximo, Valdemar [1 ,2 ]
Soares, Paula [1 ,2 ]
Peixoto, Joana [1 ]
Catarino, Telmo [1 ]
Rito, Teresa [1 ]
Soares, Pedro [1 ]
Pereira, Luisa [1 ,2 ]
Sobrinho-Simoes, Manuel [1 ,2 ,4 ]
Santos, Ana Paula [3 ]
Couto, Joana [3 ]
Henrique, Rui [5 ]
Matos-Loureiro, Joana [5 ]
Dias, Paula [5 ]
Torres, Isabel [3 ]
Lima, Jorge [1 ,2 ]
机构
[1] Univ Porto, Inst Pathol & Mol Immunol, IPATIMUP, P-4200465 Oporto, Portugal
[2] Univ Porto, Fac Med, P-4200465 Oporto, Portugal
[3] Portuguese Oncol Inst, Dept Endocrinol, Oporto, Portugal
[4] Hosp Sao Joao, Dept Pathol, Oporto, Portugal
[5] Portuguese Oncol Inst, Dept Pathol, Oporto, Portugal
关键词
PHEOCHROMOCYTOMA; VARIANTS; GENETICS; GENES;
D O I
10.1530/ERC-12-0399
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
引用
收藏
页码:L23 / L26
页数:4
相关论文
共 10 条
[1]   The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency [J].
Bayley, JP ;
Devilee, P ;
Taschner, PEM .
BMC MEDICAL GENETICS, 2005, 6
[2]   The Succinate Dehydrogenase Genetic Testing in a Large Prospective Series of Patients with Paragangliomas [J].
Burnichon, Nelly ;
Rohmer, Vincent ;
Amar, Laurence ;
Herman, Philippe ;
Leboulleux, Sophie ;
Darrouzet, Vincent ;
Niccoli, Patricia ;
Gaillard, Dominique ;
Chabrier, Gerard ;
Chabolle, Frederic ;
Coupier, Isabelle ;
Thieblot, Philippe ;
Lecomte, Pierre ;
Bertherat, Jerome ;
Wion-Barbot, Nelly ;
Murat, Arnaud ;
Venisse, Annabelle ;
Plouin, Pierre-Francois ;
Jeunemaitre, Xavier ;
Gimenez-Roqueplo, Anne-Paule .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (08) :2817-2827
[3]   Molecular characterisation of a common SDHB deletion in paraganglioma patients [J].
Cascon, A. ;
Landa, I. ;
Lopez-Jimenez, E. ;
Diez-Hernandez, A. ;
Buchta, M. ;
Montero-Conde, C. ;
Leskelae, S. ;
Leandro-Garcia, L. J. ;
Leton, R. ;
Rodriguez-Antona, C. ;
Eng, C. ;
Neumann, H. P. H. ;
Robledo, M. .
JOURNAL OF MEDICAL GENETICS, 2008, 45 (04) :233-238
[4]   Genetics of Pheochromocytoma and Paraganglioma in Spanish Patients [J].
Cascon, Alberto ;
Pita, Guillermo ;
Burnichon, Nelly ;
Landa, Igo ;
Lopez-Jimenez, Elena ;
Montero-Conde, Cristina ;
Leskelae, Susanna ;
Javier Leandro-Garcia, Luis ;
Leton, Rocio ;
Rodriguez-Antona, Cristina ;
Angel Diaz, Jose ;
Lopez-Vidriero, Emilio ;
Gonzalez-Neira, Anna ;
Velasco, Ana ;
Matias-Guiu, Xavier ;
Gimenez-Roqueplo, Anne-Paule ;
Robledo, Mercedes .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (05) :1701-1705
[5]   Identification of three new variants of SDHx genes in a cohort of Portuguese patients with extra-adrenal paragangliomas [J].
Domingues, R. ;
Montalvao, P. ;
Magalhaes, M. ;
Santos, R. ;
Duarte, L. ;
Bugalho, M. J. .
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2012, 35 (11) :975-980
[6]   An Update on the Genetics of Paraganglioma, Pheochromocytoma, and Associated Hereditary Syndromes [J].
Gimenez-Roqueplo, A. -P. ;
Dahia, P. L. ;
Robledo, M. .
HORMONE AND METABOLIC RESEARCH, 2012, 44 (05) :328-333
[7]   High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands [J].
Hensen, E. F. ;
van Duinen, N. ;
Jansen, J. C. ;
Corssmit, E. P. M. ;
Tops, C. M. J. ;
Romijn, J. A. ;
Vriendsd, A. H. J. T. ;
van der Mey, A. G. L. ;
Cornelisse, C. J. ;
Devilee, P. ;
Bayley, J. P. .
CLINICAL GENETICS, 2012, 81 (03) :284-288
[8]   Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria [J].
Janecke, Andreas R. ;
Willett-Brozick, Joan E. ;
Karas, Christoph ;
Hasipek, Metis ;
Loeffler-Ragg, Judith ;
Baysal, Bora E. .
JOURNAL OF HUMAN GENETICS, 2010, 55 (03) :182-185
[9]   High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in Northern Spain:: Mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations [J].
Lima, Jorge ;
Feijâo, Tália ;
da Silva, Andre Ferreira ;
Pereira-Castro, Isabel ;
Fernandez-Ballester, Gregorio ;
Maximo, Valdemar ;
Herrero, Agustin ;
Serrano, Luis ;
Sobrinho-Simôes, Manuel ;
Garcia-Rostan, Ginesa .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (12) :4853-4864
[10]   Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X -: art. no. e52 [J].
Simi, L ;
Sestini, R ;
Ferruzzi, P ;
Gaglianò, MS ;
Gensini, F ;
Mascalchi, M ;
Guerrini, L ;
Pratesi, C ;
Pinzani, P ;
Nesi, G ;
Ercolino, T ;
Genuardi, M ;
Mannelli, M .
JOURNAL OF MEDICAL GENETICS, 2005, 42 (08) :e52