TY  - GEN
AU  - Burnichon, Nelly
AU  - Cascon Soriano, Alberto
AU  - Schiavi, Francesca
AU  - Morales, Nicole Paes
AU  - Comino-Méndez, Iñaki
AU  - Abermil, Nasséra
AU  - Inglada-Pérez, Lucía
AU  - de Cubas, Aguirre A
AU  - Amar, Laurence
AU  - Barontini, Marta
AU  - de Quirós, Sandra Bernaldo
AU  - Bertherat, Jérôme
AU  - Bignon, Yves-Jean
AU  - Blok, Marinus J
AU  - Bobisse, Sara
AU  - Borrego, Salud
AU  - Castellano, Maurizio
AU  - Chanson, Philippe
AU  - Chiara, María-Dolores
AU  - Corssmit, Eleonora P M
AU  - Giacchè, Mara
AU  - de Krijger, Ronald R
AU  - Ercolino, Tonino
AU  - Girerd, Xavier
AU  - Gómez-García, Encarna B
AU  - Gómez-Graña, Alvaro
AU  - Guilhem, Isabelle
AU  - Hes, Frederik J
AU  - Honrado, Emiliano
AU  - Korpershoek, Esther
AU  - Lenders, Jacques W M
AU  - Letón, Rocío
AU  - Mensenkamp, Arjen R
AU  - Merlo, Anna
AU  - Mori, Luigi
AU  - Murat, Arnaud
AU  - Pierre, Peggy
AU  - Plouin, Pierre-François
AU  - Prodanov, Tamara
AU  - Quesada-Charneco, Miguel
AU  - Qin, Nan
AU  - Rapizzi, Elena
AU  - Raymond, Victoria
AU  - Reisch, Nicole
AU  - Roncador, Giovanna
AU  - Ruiz-Ferrer, Macarena
AU  - Schillo, Frank
AU  - Stegmann, Alexander P A
AU  - Suarez, Carlos
AU  - Taschin, Elisa
AU  - Timmers, Henri J L M
AU  - Tops, Carli M J
AU  - Urioste, Miguel
AU  - Beuschlein, Felix
AU  - Pacak, Karel
AU  - Mannelli, Massimo
AU  - Dahia, Patricia L M
AU  - Opocher, Giuseppe
AU  - Eisenhofer, Graeme
AU  - Gimenez-Roqueplo, Anne-Paule
AU  - Robledo, Mercedes
PY  - 2012
UR  - https://hdl.handle.net/20.500.12105/26068
AB  - 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...
AB  - 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...
AB  - Sixteen MAX pathogenic mutations were identified in 23 index patients. All had adrenal tumors, including 13 bilateral or multiple PCCs within the same gland (P < 0.001), 15.8% developed additional tumors at thoracoabdominal sites, and 37% had familial...
AB  - Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients.
LA  - eng
PB  - AACR
TI  - MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
TY  - research article
ER  -