title: CDC73 gene mutations in sporadic ossifying fibroma of the jaws.
abstract: BACKGROUND
  The tumor suppressor gene CDC73 was found to be associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT), which is characterized by parathyroid adenoma or carcinoma, ossifying fibroma (OF) of the jaws, and renal and uterine lesions. Mutations in CDC73 have also been frequently detected in sporadic parathyroid carcinomas and renal tumors. However, the prevalence and range of CDC73 mutations in sporadic OFs have not been established.
  
  
  METHODS
  We directly sequenced coding and flanking splice junctional regions of CDC73 in 40 cases of sporadic OF of the jaws. We also used immunohistochemistry to detect parafibromin, the protein product of CDC73, in those cases.
  
  
  RESULTS
  Two novel CDC73 mutations were identified in 2 of the 40 cases (5 %). Both were somatic mutations located in exon 1 of the coding region. Strong parafibromin expression was detected in all 40 cases, irrespective of the presence of CDC73 mutations.
  
  
  CONCLUSIONS
  Mutations inCDC73 were rare in sporadic OF of the jaws, but may affect the pathogenesis of a small subset of tumors of this type.
authors.affiliation: Department of Oral Pathology, Peking University School and Hospital of Stomatology, 22 South Zhongguancun Avenue, Haidian District, Beijing, 100081, People's Republic of China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Oral Medicine, North China University of Science and Technology, School and Hospital of Stomatology, 82 South Construction Road, Lubei District, Tangshan, 063000, People's Republic of China.
authors.forename: Da-Yan
authors.initials: DY
authors.lastname: Hu
authors.affiliation: Department of Stomatology, The First Affiliated Hospital of Bengbu Medical College, 287 Changhuai Road, Bengbu, 233004, People's Republic of China.
authors.forename: Ting-Ting
authors.initials: TT
authors.lastname: Wang
authors.affiliation: Department of Oral Pathology, Peking University School and Hospital of Stomatology, 22 South Zhongguancun Avenue, Haidian District, Beijing, 100081, People's Republic of China.
authors.forename: Ran
authors.initials: R
authors.lastname: Zhang
authors.affiliation: Department of Oral Medicine, North China University of Science and Technology, School and Hospital of Stomatology, 82 South Construction Road, Lubei District, Tangshan, 063000, People's Republic of China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Dong
authors.affiliation: Department of Oral Pathology, Peking University School and Hospital of Stomatology, 22 South Zhongguancun Avenue, Haidian District, Beijing, 100081, People's Republic of China.
authors.forename: Zhi-Xiu
authors.initials: ZX
authors.lastname: Xu
authors.affiliation: Department of Oral Medicine, North China University of Science and Technology, School and Hospital of Stomatology, 82 South Construction Road, Lubei District, Tangshan, 063000, People's Republic of China. wang160@163.com.
authors.forename: Lin
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Oral Pathology, Peking University School and Hospital of Stomatology, 22 South Zhongguancun Avenue, Haidian District, Beijing, 100081, People's Republic of China. litiejun22@vip.sina.com.
authors.forename: Tie-Jun
authors.initials: TJ
authors.lastname: Li
keywords: CDC73; Ossifying fibroma; Sporadic