title: [The RET gene in multiple endocrine neoplasia type 2 (MEN 2)].
abstract: Multiple endocrine neoplasia types 2A and 2B(MEN 2A and MEN 2B), and familial medullary thyroid carcinoma(FMTC) are autosomal, dominantly inherited syndromes involving endocrine tumors. MEN 2A is characterized by medullary thyroid carcinoma(MTC), pheochromocytoma(pheo), and parathyroid hyperplasia; MEN 2B is characterized by MTC, pheo, mucosal ganglioneuroma, and marfanoid habitus. Affected individuals in FMTC families develop MTC without any other abnormalities. MEN 2A and MEN 2B and FMTC are caused by germline mutations in the RET proto-oncogene. To investigate the spectrum of RET mutations among Japanese patients, we analyzed the RET gene 118 patients with MEN 2 or FMTC.
authors.affiliation: SRL Inc., Teikyo University School of Medicine.
authors.forename: Taichi
authors.initials: T
authors.lastname: Ito
authors.forename: Shuya
authors.initials: S
authors.lastname: Shirahama
authors.forename: Kenji
authors.initials: K
authors.lastname: Ogura
authors.forename: Shigeki
authors.initials: S
authors.lastname: Yamamoto
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takami
mesh_terms: D018095:Germ-Line Mutation; D006801:Humans; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics*; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*
chemical_list: C000715470:MAS1 protein, human; D015513:Oncogene Proteins; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; D020794:Receptor Protein-Tyrosine Kinases