title: [Analysis of mutations in the RET proto-oncogene in patients with medullary thyroid tumor].
abstract: The spectrum of mutations of the RET protooncogene was analyzed in Russian patients with inherited or sporadic medullary thyroid carcinoma (MTC). Four RET exons (11, 13, 15, and 16) were subjected to molecular analysis, and mutations were revealed and identified in 47.4% (9/19) patients with sporadic MTC. In total, six mutations (including three new ones) were observed. The most common mutation affected codon 918 to cause substitution of methionine with threonine and accounted for 31.6% alleles. Analysis of exons 11 and 16 revealed four mutations in patients with inherited multiple endocrine neoplasia type 2 (MEN 2). Mutations were found in each patient. Thyroidectomy was performed in four asymptomatic carriers of RET mutations from three MET 2A families (in two families, affected relatives had bilateral pheochromocytoma). In two patients, analysis of the surgery material revealed MTC microfoci in both lobes of the thyroid gland. The results provide the ground for constructing a bank of genetic information on Russian MTC patients with the clinically verified diagnosis.
authors.affiliation: Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, 115478 Russia. amossenko@medgen.ru
authors.forename: F A
authors.initials: FA
authors.lastname: Amosenko
authors.forename: V Zh
authors.initials: VZh
authors.lastname: Brzhezovskiĭ
authors.forename: L N
authors.initials: LN
authors.lastname: Liubchenko
authors.forename: M A
authors.initials: MA
authors.lastname: Shabanov
authors.forename: V M
authors.initials: VM
authors.lastname: Kozlova
authors.forename: V E
authors.initials: VE
authors.lastname: Vanushko
authors.forename: T P
authors.initials: TP
authors.lastname: Kazubskaia
authors.forename: R F
authors.initials: RF
authors.lastname: Gar'kavtseva
authors.forename: V N
authors.initials: VN
authors.lastname: Kalinin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D018276:Carcinoma, Medullary / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010673:Pheochromocytoma / Q000235:genetics; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D012426:Russia; D013912:Threonine / Q000235:genetics; D013961:Thyroid Gland / Q000473:pathology / Q000601:surgery; D013964:Thyroid Neoplasms / Q000235:genetics*; D013965:Thyroidectomy
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D013912:Threonine; D008715:Methionine; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases