TY  - GEN
AU  - Yao, Li
AU  - Schiavi, Francesca
AU  - Cascon Soriano, Alberto
AU  - Qin, Yuejuan
AU  - Inglada-Pérez, Lucia
AU  - King, Elizabeth E
AU  - Toledo, Rodrigo A
AU  - Ercolino, Tonino
AU  - Rapizzi, Elena
AU  - Ricketts, Christopher J
AU  - Mori, Luigi
AU  - Giacchè, Mara
AU  - Mendola, Antonella
AU  - Taschin, Elisa
AU  - Boaretto, Francesca
AU  - Loli, Paola
AU  - Iacobone, Maurizio
AU  - Rossi, Gian-Paolo
AU  - Biondi, Bernadette
AU  - Lima-Junior, José Viana
AU  - Kater, Claudio E
AU  - Bex, Marie
AU  - Vikkula, Miikka
AU  - Grossman, Ashley B
AU  - Gruber, Stephen B
AU  - Barontini, Marta
AU  - Persu, Alexandre
AU  - Castellano, Maurizio
AU  - Toledo, Sergio P A
AU  - Maher, Eamonn R
AU  - Mannelli, Massimo
AU  - Opocher, Giuseppe
AU  - Robledo Batanero, Mercedes
AU  - Dahia, Patricia L M
PY  - 2010
UR  - https://hdl.handle.net/20.500.12105/26058
AB  - 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...
AB  - To examine the prevalence and spectrum of FP/TMEM127 mutations in pheochromocytomas and paragangliomas and to test the effect of mutations in vitro.
AB  - We sequenced the FP/TMEM127 gene in 990 individuals with pheochromocytomas and/or paragangliomas, including 898 previously unreported cases without mutations in other susceptibility genes from 8 independent worldwide referral centers between January...
AB  - The frequency and type of FP/TMEM127 mutation or deletion was assessed and correlated with clinical variables; the subcellular localization of 5 overexpressed mutants was compared with wild-type FP/TMEM127 protein.
AB  - We identified 19 potentially pathogenic FP/TMEM127 germline mutations in 20 independent families, but no large deletions were detected. All mutation carriers had adrenal tumors, including 7 bilateral (P = 2.7 × 10(-4)) and/or with familial disease (5...
AB  - Germline mutations of FP/TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from genetic screening algorithms. Disease-associated mutations disrupt intracellular distribution of the...
LA  - eng
KW  - TUMOR-SUPPRESSOR1P36
KW  - SUSCEPTIBILITY
KW  - 1P36
TI  - Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
TY  - research article
ER  -