Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients

被引：32

作者：

Cascon, Alberto ^{[1
,2
]}

Inglada-Perez, Lucia ^{[1
,2
]}

Comino-Mendez, Inaki ^{[1
]}

de Cubas, Aguirre A. ^{[1
]}

Leton, Rocio

Mora, Jaume ^{[3
]}

Marazuela, Monica ^{[4
]}

Galofre, Juan Carlos ^{[5
]}

Quesada-Charneco, Miguel ^{[6
]}

Robledo, Mercedes ^{[1
,2
]}

机构：

[1] Spanish Natl Canc Res Ctr CNIO, Hereditary Endocrine Canc Grp, Madrid 28029, Spain

[2] ISCIII Ctr Biomed Res Rare Dis CIBERER, Madrid, Spain

[3] Hosp San Juan Dios, Dept Pediat Oncol, Barcelona, Spain

[4] Hosp Univ Princesa, Div Endocrinol, Madrid, Spain

[5] Univ Navarra, Dept Endocrinol & Nutr, Clin Univ Navarra, E-31080 Pamplona, Spain

[6] Univ San Cecilio, Hosp Clin, Serv Endocrinol, Granada, Spain

来源：

关键词：

MAX MUTATIONS; HEREDITARY; SDHB; PREVALENCE;

D O I：

10.1530/ERC-12-0339

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

引用

页码：L1 / L6

页数：6

共 17 条

[1] SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
Bayley, Jean-Pierre
Kunst, Henricus P. M.
Cascon, Alberto
Sampietro, Maria Lourdes
Gaal, Jose
Korpershoek, Esther
Hinojar-Gutierrez, Adolfo
Timmers, Henri J. L. M.
Hoefsloot, Lies H.
Hermsen, Mario A.
Suarez, Carlos
Hussain, A. Karim
Vriends, Annette H. J. T.
Hes, Frederik J.
Jansen, Jeroen C.
Tops, Carli M.
Corssmit, Eleonora P.
de Knijff, Peter
Lenders, Jacques W. M.
Cremers, Cor W. R. J.
Devilee, Peter
Dinjens, Winand N. M.
de Krijger, Ronald R.
Robledo, Mercedes
[J]. LANCET ONCOLOGY, 2010, 11 (04) : 366 - 372
[2] MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
Burnichon, Nelly
Cascon, Alberto
Schiavi, Francesca
Morales, Nicole Paes
Comino-Mendez, Inaki
Abermil, Nassera
Inglada-Perez, Lucia
de Cubas, Aguirre A.
Amar, Laurence
Barontini, Marta
de Quiros, Sandra Bernaldo
Bertherat, Jerome
Bignon, Yves-Jean
Blok, Marinus J.
Bobisse, Sara
Borrego, Salud
Castellano, Maurizio
Chanson, Philippe
Chiara, Maria-Dolores
Corssmit, Eleonora P. M.
Giacche, Mara
de Krijger, Ronald R.
Ercolino, Tonino
Girerd, Xavier
Gomez-Garcia, Encarna B.
Gomez-Grana, Alvaro
Guilhem, Isabelle
Hes, Frederik J.
Honrado, Emiliano
Korpershoek, Esther
Lenders, Jacques W. M.
Leton, Rocio
Mensenkamp, Arjen R.
Merlo, Anna
Mori, Luigi
Murat, Arnaud
Pierre, Peggy
Plouin, Pierre-Francois
Prodanov, Tamara
Quesada-Chameco, Miguel
Qin, Nan
Rapizzi, Elena
Raymond, Victoria
Reisch, Nicole
Roncador, Giovanna
Ruiz-Ferrer, Macarena
Schillo, Frank
Stegmann, Alexander P. A.
Suarez, Carlos
Taschin, Elisa
[J]. CLINICAL CANCER RESEARCH, 2012, 18 (10) : 2828 - 2837
[3] SDHA is a tumor suppressor gene causing paraganglioma
Burnichon, Nelly
Briere, Jean-Jacques
Libe, Rossella
Vescovo, Laure
Riviere, Julie
Tissier, Frederique
Jouanno, Elodie
Jeunemaitre, Xavier
Benit, Paule
Tzagoloff, Alexander
Rustin, Pierre
Bertherat, Jerome
Favier, Judith
Gimenez-Roqueplo, Anne-Paule
[J]. HUMAN MOLECULAR GENETICS, 2010, 19 (15) : 3011 - 3020
[4] Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR:: A possible hot spot?
Cascón, A
Montero-Conde, C
Ruiz-Liorente, S
Mercadillo, F
Letón, R
Rodríguez-Antona, C
Martinez-Delgado, B
Delgado, M
Díez, A
Rovira, A
Díaz, JA
Robledo, M
[J]. GENES CHROMOSOMES & CANCER, 2006, 45 (03) : 213 - 219
[5] Rationalization of Genetic Testing in Patients with Apparently Sporadic Pheochromocytoma/Paraganglioma
Cascon, A.
Lopez-Jimenez, E.
Landa, I.
Leskelae, S.
Leandro-Garcia, L. J.
Maliszewska, A.
Leton, R.
de la Vega, L.
Garcia-Barcina, M. J.
Sanabria, C.
Alvarez-Escola, C.
Rodriguez-Antona, C.
Robledo, M.
[J]. HORMONE AND METABOLIC RESEARCH, 2009, 41 (09) : 672 - 675
[6] Genetics of Pheochromocytoma and Paraganglioma in Spanish Patients
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
[J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (05) : 1701 - 1705
[7] Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
Comino-Mendez, Inaki
Gracia-Aznarez, Francisco J.
Schiavi, Francesca
Landa, Inigo
Leandro-Garcia, Luis J.
Leton, Roco
Honrado, Emiliano
Ramos-Medina, Rocio
Caronia, Daniela
Pita, Guillermo
Gomez-Grana, Alvaro
de Cubas, Aguirre A.
Inglada-Perez, Lucia
Maliszewska, Agnieszka
Taschin, Elisa
Bobisse, Sara
Pica, Giuseppe
Loli, Paola
Hernandez-Lavado, Rafael
Diaz, Jose A.
Gomez-Morales, Mercedes
Gonzalez-Neira, Anna
Roncador, Giovanna
Rodriguez-Antona, Cristina
Benitez, Javier
Mannelli, Massimo
Opocher, Giuseppe
Robledo, Mercedes
Cascon, Alberto
[J]. NATURE GENETICS, 2011, 43 (07) : 663 - U189
[8] Birth Incidence and Prevalence of Tumor-Prone Syndromes: Estimates From a UK Family Genetic Register Service
Evans, D. G.
Howard, E.
Giblin, C.
Clancy, T.
Spencer, H.
Huson, S. M.
Lalloo, F.
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (02) : 327 - 332
[9] SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
Hao, Huai-Xiang
Khalimonchuk, Oleh
Schraders, Margit
Dephoure, Noah
Bayley, Jean-Pierre
Kunst, Henricus
Devilee, Peter
Cremers, Cor W. R. J.
Schiffman, Joshua D.
Bentz, Brandon G.
Gygi, Steven P.
Winge, Dennis R.
Kremer, Hannie
Rutter, Jared
[J]. SCIENCE, 2009, 325 (5944) : 1139 - 1142
[10] Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to SDHB Mutations
King, Kathryn S.
Prodanov, Tamara
Kantorovich, Vitaly
Fojo, Tito
Hewitt, Jacqueline K.
Zacharin, Margaret
Wesley, Robert
Lodish, Maya
Raygada, Margarita
Gimenez-Roqueplo, Anne-Paule
McCormack, Shana
Eisenhofer, Graeme
Milosevic, Dragana
Kebebew, Electron
Stratakis, Constantine A.
Pacak, Karel
[J]. JOURNAL OF CLINICAL ONCOLOGY, 2011, 29 (31) : 4137 - 4142

← 1 2 →