title: [BRCA1/2 gene mutation in Chinese familial breast cancer patients: a multi-center report of 115 cases].
abstract: OBJECTIVE
  To study the BRCA1/2 gene mutation frequency and characteristics in Chinese familial breast cancer patients.
  
  
  METHODS
  Denaturing high-performance liquid chromatography (DHPLC) and following DNA sequencing in BRCA1/2 gene whole coding region and exon-intron splicing sites were performed in the specimens obtained during operation from 115 probands of familial breast cancer from 4 breast cancer centers in China.
  
  
  RESULTS
  Fourteen cases of gene mutation (11 in BRCA1 and 3 in BRCA2) were found in the 115 breast cancer specimens with an overall mutation rate of 12.2%. After stratification with number of breast cancer patients in family, the frequency of mutation did not change significantly. The average age of disease onset of the families carrying BRCA1/2 mutations was significantly younger than that of the families without mutations (P < 0.01), and the higher the number of young patients in family, the higher the mutation rate.
  
  
  CONCLUSIONS
  In Chinese familial breast cancer patients, age of disease-onset is an effective predictive factor of BRCA1/2 mutation, however, the predictive effect of the number of affective relatives in family is not good.
authors.affiliation: Breast Cancer Institute, Cancer Hospital/Cancer Institute, Fudan University, Shanghai 200032, China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Hu
authors.forename: Wen-Feng
authors.initials: WF
authors.lastname: Li
authors.forename: Xiao-Yi
authors.initials: XY
authors.lastname: Liu
authors.forename: Bin
authors.initials: B
authors.lastname: Zhang
authors.forename: Ming-Zhi
authors.initials: MZ
authors.lastname: Cao
authors.forename: Yong-Sheng
authors.initials: YS
authors.lastname: Wang
authors.forename: Lin
authors.initials: L
authors.lastname: Zhao
authors.forename: Chuan-Gui
authors.initials: CG
authors.lastname: Song
authors.forename: Jin-Song
authors.initials: JS
authors.lastname: Lu
authors.forename: Jiong
authors.initials: J
authors.lastname: Wu
authors.forename: Gen-Hong
authors.initials: GH
authors.lastname: DI
authors.forename: Kun-Wei
authors.initials: KW
authors.lastname: Shen
authors.forename: Qi-Xia
authors.initials: QX
authors.lastname: Han
authors.forename: Zhen-Zhou
authors.initials: ZZ
authors.lastname: Shen
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
authors.forename: Zhi-Min
authors.initials: ZM
authors.lastname: Shao
mesh_terms: D017668:Age of Onset; D044466:Asian People / Q000235:genetics*; D001943:Breast Neoplasms / Q000208:ethnology* / Q000235:genetics*; D002681:China / Q000453:epidemiology; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D009154:Mutation