title: RET Gene Analysis in Patients with Medullary Thyroid Carcinoma.
abstract: BACKGROUND
  Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor from the para follicular C cells of the thyroid gland. It occurs either sporadically or as part of an inherited syndrome. It is caused by an autosomal dominant mutation in the RET (Rearranged during Transfection) proto-oncogene.
  
  
  METHODS
  The studied population consisted of 47 patients diagnosed with MTC in a specific population of northwest Iran along with their three children. Blood samples were collected from all subjects, genomic DNA was extracted and RET exons 10, 11, 13, 14, 15, and 16 were analyzed using PCR and direct sequencing.
  
  
  RESULTS
  32 missense mutations were identified in exons 10 (6.25%) and 11 (84.4%). Moreover, two novel mutations in codon 595 in exon 10 (E595D and E595A) and a new mutation in codon 689 exon 11 (S689T) were detected, and a new nucleotide change was found in exon 11 (T675T). Four different polymorphisms were also identified in exons 11, 13, 14, and 15. Based on our data, the frequency profile of RET mutations in the Azari population of Iran with MTC is 61.7%. The most frequent mutation in our population was C364G, whereas in most populations it is C634R.
  
  
  CONCLUSIONS
  These results underline the importance of the genetic background of family members of any patient with MTC.
authors.forename: Parastoo
authors.initials: P
authors.lastname: Kheiroddin
authors.forename: Seyed-Ziaeddin
authors.initials: SZ
authors.lastname: Rasihashemi
authors.forename: Mehrdad-Asghariari
authors.initials: MA
authors.lastname: Estiar
authors.forename: Babak
authors.initials: B
authors.lastname: Mahmudian
authors.forename: Monireh
authors.initials: M
authors.lastname: Halimi
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Mousavi
authors.forename: Masoumeh
authors.initials: M
authors.lastname: Nemati
authors.forename: Ebrahim
authors.initials: E
authors.lastname: Sakhinia
mesh_terms: D000328:Adult; D018278:Carcinoma, Neuroendocrine / Q000235:genetics*; D003430:Cross-Sectional Studies; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D011519:Proto-Oncogenes; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human