title: RET polymorphisms in codons 769 and 836 are not associated with predisposition to medullary thyroid carcinoma.
abstract: The study was undertaken to verify whether the RET gene polymorphisms are associated with MTC in patients negative for germline mutations. Two hundred five patients with apparent sporadic MTC were subjected to genetic analysis of RET exons 10, 11, 13, 14, 16 and 22 RET germline mutation carriers were identified with 10.7% frequency. The frequency among 26 patients not older than 30 was 27%. In patients excluded for known mutations we analyzed two polymorphic sites: RET codon 769 and 836. As control group, 90 healthy subjects were investigated. In young patients the observed allelic frequencies were 32% for variant L769/CTG and 5% for variant S836/AGT. Although these values were higher than in older MTC patients (22 and 3%, respectively), as well as in the control group (27 and 2%) the difference was insignificant. We conclude that in Polish patients polymorphisms at RET codons 769 and 836 are not associated with medullary thyroid carcinoma.
authors.affiliation: Department of Nuclear Medicine and Endocrine Oncology, Maria Skłodowska-Curie Memorial Institute, 44-101 Gliwice, Poland. wiench@io.gliwice.pl
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Wiench
authors.forename: Jan
authors.initials: J
authors.lastname: Włoch
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Wygoda
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Gubała
authors.forename: M
authors.initials: M
authors.lastname: Oczko
authors.forename: A
authors.initials: A
authors.lastname: Pawlaczek
authors.forename: D
authors.initials: D
authors.lastname: Kula
authors.forename: D
authors.initials: D
authors.lastname: Lange
authors.forename: B
authors.initials: B
authors.lastname: Jarzab
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D018276:Carcinoma, Medullary / Q000235:genetics* / Q000473:pathology; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D003062:Codon; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases