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Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/62678
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dc.contributor.authorBurnichón, Nelly-
dc.contributor.authorBorrego, Salud-
dc.contributor.authorRuiz-Ferrer, Macarena-
dc.contributor.authorRobledo, Mercedes-
dc.date.accessioned2012-12-12T12:21:30Z-
dc.date.available2012-12-12T12:21:30Z-
dc.date.issued2012-
dc.identifierdoi: 10.1158/1078-0432.CCR-12-0160-
dc.identifierissn: 1078-0432-
dc.identifier.citationClinical Cancer Research 18(10): 2828-2837 (2012)-
dc.identifier.urihttp://hdl.handle.net/10261/62678-
dc.description11 pages, 2 figures, 2 tables.-- Burnichón, Nelly et al.-
dc.description.abstractPurpose: 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.-
dc.description.abstractDesign: 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 assessed overall and by clinical characteristics.-
dc.description.abstractResults: 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 antecedents. Age at diagnosis was lower (P = 0.001) in MAX mutation carriers compared with nonmutated cases. Two patients (10.5%) developed metastatic disease. A mutation affecting MAX was found in five tumors, four of them confirmed as somatic (1.65%). MAX tumors were characterized by substantial increases in normetanephrine, associated with normal or minor increases in metanephrine.-
dc.description.abstractConclusions: 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. ©2012 AACR.-
dc.language.isoeng-
dc.publisherAmerican Association for Cancer Research-
dc.rightsclosedAccess-
dc.titleMAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma-
dc.typeartículo-
dc.identifier.doi10.1158/1078-0432.CCR-12-0160-
dc.relation.publisherversionhttp://dx.doi.org/10.1158/1078-0432.CCR-12-0160-
dc.date.updated2012-12-12T12:21:30Z-
dc.description.versionPeer Reviewed-
dc.type.coarhttp://purl.org/coar/resource_type/c_6501es_ES
item.fulltextNo Fulltext-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeartículo-
item.cerifentitytypePublications-
item.grantfulltextnone-
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