title: [PTEN and NBS1 gene mutations in familial breast cancer and early-onset breast cancer from Hunan Province in China].
abstract: OBJECTIVE
  To investigate the profile and potential significance of PTEN and NBS1 mutations among patients with familial or at early onset breast cancer in Hunan province.
  
  
  METHODS
  A total of 131 breast cancer patients with familial history or suffered from breast cancer at the age of less than 35 years old were included in this study. A comprehensive phosphatase and tensin homolog (PTEN) and nibrin (NBS1) mutation analysis was performed through denaturing high performance liquid chromatography (DHPLC) and subsequent DNA direct sequencing.
  
  
  RESULTS
  Among 131 patients, a reported mutation IVS4+109insTCTTA in PTEN gene were identified in two patients. The mutation frequency of IVS4+109insTCTTA was 1.15%. Two mutations in PTEN gene, 225 A>C (Thr 160 Pro) and IVS5+13T>C, was firstly discovered. Another reported missense mutation was rs121909229 G>A (Arg 130 Gln). Three mutations were detected in NBS1 gene, of which IVS6+43A>G and IVS6+127A>G were firstly discovered and another reported synonymous mutations was rs1805794 G>C (Glu 185 Gln).
  
  
  CONCLUSIONS
  The novel mutations in PTEN and NBS1 might be specific to the familial and early-onset breast cancer of Chinese Hunan population.
authors.affiliation: Department of Breast Surgery, Xiangya Hospital, Central South University, Changsha 410008, China.
authors.forename: Yuhui
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Breast Surgery, Xiangya Hospital, Central South University, Changsha 410008, China.
authors.forename: Bingjian
authors.initials: B
authors.lastname: Jiang
authors.affiliation: Department of Breast Surgery, Xiangya Hospital, Central South University, Changsha 410008, China.
authors.forename: Xu
authors.initials: X
authors.lastname: Dai
authors.affiliation: Department of Breast Surgery, Xiangya Hospital, Central South University, Changsha 410008, China.
authors.forename: Xueli
authors.initials: X
authors.lastname: Hu
authors.affiliation: Department of Breast Surgery, Xiangya Hospital, Central South University, Changsha 410008, China.
authors.forename: Shouman
authors.initials: S
authors.lastname: Wang
authors.affiliation: Department of Breast Surgery, Xiangya Hospital, Central South University, Changsha 410008, China.
authors.forename: Pinglan
authors.initials: P
authors.lastname: Jiang
authors.affiliation: Department of Breast Surgery, Xiangya Hospital, Central South University, Changsha 410008, China.
authors.forename: Yuanping
authors.initials: Y
authors.lastname: Hu
authors.affiliation: Department of Breast Surgery, Xiangya Hospital, Central South University, Changsha 410008, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Huang
mesh_terms: D000328:Adult; D044466:Asian People; D001943:Breast Neoplasms / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D051059:PTEN Phosphohydrolase / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human