Abstract Library

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ENETS Abstract Search

#273 The Succinate Dehydrogenase Genetic Testing in Patients with Extra-adrenal Paragangliomas: The Portuguese Cancer Center (Lisboa) Experience

Introduction: Extra-adrenal paragangliomas (PGLs) occur as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC or SDHD genes.

Conference: 8th Annual ENETSConcerence (2011)

Presenting Author:

Authors: Domingues R, Santos R, Montalvão P, Magalhães M, Martins Bugalho M,

Keywords: paraganglioma, germline mutations, SDHB, SDHC, SDHD,

#271 A Novel Missense Mutation of the TMEM127 Gene that Leads to Pheochromocytoma Phenotype

Introduction: Recently, truncating germline mutations in TMEM127 gene have been identified in 30% of familial cases of adrenal pheochromocytoma (PHEO) and in 3% of apparently sporadic cases.

Conference: 8th Annual ENETSConcerence (2011)

Presenting Author:

Authors: Domingues R, Vilar H, Lopes L, Jácome de Castro J, Martins Bugalho M,

Keywords: pheochromocytoma, familial forms, germline mutations, susceptibility genes, TMEM127,