Article
Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes.
European journal of endocrinology - 1 Aug 2010
Romei Cristina, Mariotti Stefano, Fugazzola Laura, Taccaliti Augusto, Pacini Furio, Opocher Giuseppe, Mian Caterina, Castellano Maurizio, degli Uberti Ettore, Ceccherini Isabella, Cremonini Nadia, Seregni Ettore, Orlandi Fabio, Ferolla Piero, Puxeddu Efisio, Giorgino Francesco, Colao Annamaria, Loli Paola, Bondi Fabio, Cosci Barbara, Bottici Valeria, Cappai Antonello, Pinna Giovanni, Persani Luca, Verga Uberta, Uberta Verga, Boscaro Marco, Castagna Maria Grazia, Cappelli Carlo, Zatelli Maria Chiara, Faggiano Antongiulio, Francia Giuseppe, Brandi Maria Luisa, Falchetti Alberto, Pinchera Aldo, Elisei Rossella
Abstract excerpt
OBJECTIVE: Multiple endocrine neoplasia type 2 (MEN 2) is a genetic disease characterized by medullary thyroid carcinoma (MTC) associated (MEN 2A and 2B) or not familial MTC (FMTC) with other endocrine neoplasia due to germline RET gene mutations. The prevalence of these rare genetic diseases and their corresponding RET mutations are unknown due to the small size of the study population. METHODS: We collected...
Topics
- Chi-Square Distribution
- Female
- Genetic Association Studies
- Genetic Testing
- Genotype
- Germ-Line Mutation
