Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

Journal article

CONTEXT: Pheochromocytomas and paragangliomas are genetically heterogeneous neural crest-derived neoplasms. We recently identified germline mutations of the novel transmembrane-encoding gene FP/TMEM127 in familial and sporadic pheochromocytomas consistent with a tumor suppressor effect. OBJECTIVES: To examine the prevalence and spectrum of FP/TMEM127 mutations in pheochromocytomas and paragangliomas and to test the effect of mutations in vitro. DESIGN, SETTING, AND PARTICIPANTS: We sequenced ...

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Authors: Yao, L; Schiavi, F; Cascon, A; Qin, Y; Inglada-Pérez, L

• Publication status: Published
• Journal: JAMA
• Volume: 304
• Issue: 23
• Pages: 2611-2619
• Publication date: 2010-12-01
• DOI: 10.1001/jama.2010.1830
• EISSN: 1538-3598
• ISSN: 0098-7484
• Language: English
• Keywords: Humans; Paraganglioma; Polymerase Chain Reaction; Middle Aged; Female; Child; Adrenal Gland Neoplasms; Male; Pheochromocytoma; Adolescent; Aged; Germ-Line Mutation; Gene Expression Regulation, Neoplastic; Membrane Proteins; Microscopy, Confocal; Adult; Sequence Analysis, DNA; Aged, 80 and over; Age of Onset; Child, Preschool