Authors
Nelly Burnichon, Alberto Cascón, Francesca Schiavi, Nicole Paes Morales, Iñaki Comino-Méndez, Nasséra Abermil, Lucía Inglada-Pérez, Aguirre A De Cubas, Laurence Amar, Marta Barontini, Sandra Bernaldo de Quirós, Jerome Bertherat, Yves-Jean Bignon, Marinus J Blok, Sara Bobisse, Salud Borrego, Maurizio Castellano, Philippe Chanson, María-Dolores Chiara, Eleonora PM Corssmit, Mara Giacchè, Ronald R De Krijger, Tonino Ercolino, Xavier Girerd, Encarna B Gómez-García, Alvaro Gomez-Grana, Isabelle Guilhem, Frederik J Hes, Emiliano Honrado, Esther Korpershoek, Jacques WM Lenders, Rocío Letón, Arjen R Mensenkamp, Anna Merlo, Luigi Mori, Arnaud Murat, Peggy Pierre, Pierre-François Plouin, Tamara Prodanov, Miguel Quesada-Charneco, Nan Qin, Elena Rapizzi, Victoria Raymond, Nicole Reisch, Giovanna Roncador, Macarena Ruiz-Ferrer, Frank Schillo, Alexander PA Stegmann, Carlos Suarez, Elisa Taschin, Henri JLM Timmers, Carli MJ Tops, Miguel Urioste, Felix Beuschlein, Karel Pacak, Massimo Mannelli, Patricia LM Dahia, Giuseppe Opocher, Graeme Eisenhofer, Anne-Paule Gimenez-Roqueplo, Mercedes Robledo
Publication date
2012/5/15
Journal
Clinical cancer research
Volume
18
Issue
10
Pages
2828-2837
Publisher
American Association for Cancer Research
Description
Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest–derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associated factor X), which predisposes carriers to PCC. How MAX mutations contribute to PCC/PGL and associated phenotypes remain unclear. This study aimed to examine the prevalence and associated phenotypic features of germline and somatic MAX mutations in PCC/PGL.
Design: We sequenced MAX in 1,694 patients with PCC or PGL (without mutations in other major susceptibility genes) from 17 independent referral centers. We screened for large deletions/duplications in 1,535 patients using a multiplex PCR-based method. Somatic mutations were searched for in tumors from an additional 245 patients. The frequency and type of MAX mutation was …
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Scholar articles
N Burnichon, A Cascón, F Schiavi, NP Morales… - Clinical cancer research, 2012