title: Smoothened gene alterations in keratocystic odontogenic tumors.
abstract: BACKGROUND
  It has been widely demonstrated that the hedgehog pathway is strongly associated with basal cell carcinoma of the skin (NBCCS). To assess potential DNA alterations related to keratocystic odontogenic tumors (KCOTs), we sequenced smoothened (SMO) genes in 12 sporadic KCOTs.
  
  
  METHODS
  Polymerase chain reaction (PCR), capillary electrophoresis and dideoxy chain-termination sequencing were used to examine potential DNA alterations in sporadic KCOTs.
  
  
  RESULTS
  Five alterations in SMO genes were detected. Four of these mutations consisted of two synonymous and three missense mutations; two of which have not been reported to date (c.T776A, c.T1281G).
  
  
  CONCLUSIONS
  SMO genes may play an important role in the sonic hedgehog (SHH) pathway and could also be responsible for generating KCOTs and NBCCS. However, their influence on SHH signaling remains to be elucidated.
authors.forename: Zhang
authors.initials: Z
authors.lastname: Rui
authors.forename: Peng
authors.initials: P
authors.lastname: Li-Ying
authors.forename: Qu
authors.initials: Q
authors.lastname: Jia-Fei
authors.forename: Hong
authors.initials: H
authors.lastname: Ying-Ying
authors.affiliation: Department of Oral Pathology, Peking University School and Hospital of Stomatology, 22 Zhongguancun Avenue South, Haidian District, Beijing 100081, China. moleculecf@gmail.com.
authors.forename: Chen
authors.initials: C
authors.lastname: Feng
authors.forename: Li
authors.initials: L
authors.lastname: Tie-Jun
mesh_terms: D000293:Adolescent; D000328:Adult; D002280:Basal Cell Carcinoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009808:Odontogenic Tumors / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D016133:Polymerase Chain Reaction; D043562:Receptors, G-Protein-Coupled / Q000235:genetics* / Q000378:metabolism; D000072086:Smoothened Receptor; D055815:Young Adult
chemical_list: D004273:DNA, Neoplasm; D043562:Receptors, G-Protein-Coupled; C491023:SMO protein, human; D000072086:Smoothened Receptor