title: Ret proto-oncogene mutations in apparently sporadic Turkish medullary thyroid carcinoma patients: Turkmen study.
abstract: OBJECTIVE
  Medullary thyroid carcinoma (MTC) frequently occurs in a sporadic form, but a substantial number of cases are hereditary and appear as part of the multiple endocrine neoplasia type 2 (MEN2) syndromes. Germline mutations in ret proto-oncogene have been shown to be the underlying cause of MEN2 syndromes.
  
  
  METHODS
  We carried out a multi-center study that aimed to perform mutational analysis of so called sporadic MTC patients.
  
  
  METHODS
  Fifty-six MTC patients verified by histopathologic examination were subjected to genetic analysis. Exon 10, 11, 13, 14, 15 and 16 of the ret gene were analyzed by DNA sequencing and restriction enzyme digestion method.
  
  
  RESULTS
  Among 56 apparently sporadic MTC patients, we identified 6 (10.7%) ret germline mutation carriers. Three individuals carried mutations at codon 634 in exon 11, one at codon 618 in exon 10, and two at codon 804 in exon 14. Identification of the predisposition gene mutation has allowed DNA-based strategy for direct mutation detection in patients with apparently sporadic MTCs. A substantial number of patients with apparently sporadic MTC carried germline mutations and 50% of their first degree relatives are expected to have or to develop MTC and/or other endocrine tumors.
  
  
  CONCLUSIONS
  These results indicate the importance of careful genetic surveillance of any patient with apparently sporadic MTCs.
authors.affiliation: Department of Endocrinology and Metabolic Diseases, Ankara University School of Medicine, Turkey. murat.erdogan@temd.org.tr
authors.forename: M F
authors.initials: MF
authors.lastname: Erdogan
authors.forename: A
authors.initials: A
authors.lastname: Gürsoy
authors.forename: G
authors.initials: G
authors.lastname: Ozgen
authors.forename: M
authors.initials: M
authors.lastname: Cakir
authors.forename: F
authors.initials: F
authors.lastname: Bayram
authors.forename: R
authors.initials: R
authors.lastname: Ersoy
authors.forename: E
authors.initials: E
authors.lastname: Algün
authors.forename: B
authors.initials: B
authors.lastname: Cetinarslan
authors.forename: A
authors.initials: A
authors.lastname: Cömlekçi
authors.forename: P
authors.initials: P
authors.lastname: Kadioglu
authors.forename: M K
authors.initials: MK
authors.lastname: Balci
authors.forename: I
authors.initials: I
authors.lastname: Yetkin
authors.forename: T
authors.initials: T
authors.lastname: Kabalak
authors.forename: G
authors.initials: G
authors.lastname: Erdogan
mesh_terms: D000328:Adult; D018276:Carcinoma, Medullary / Q000235:genetics*; D005091:Exons; D005260:Female; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*; D014421:Turkey / Q000208:ethnology
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret