title: [BRCA1 and BRCA2 gene mutations of familial breast cancer from Shanghai in China].
abstract: OBJECTIVE
  To investigate the prevalence of BRCA1 and BRCA2 gene mutations among breast cancer patients with affected relatives in Shanghai of China.
  
  
  METHODS
  Thirty-five breast cancer patients who had at least one first-degree relative affected were analyzed, among whom 13 patients suffered from breast cancer at age of less than 40 years. A comprehensive BRCA1 and BRCA2 mutation analysis was performed through denaturing high-performance liquid chromatography (DHPLC) and subsequent DNA direct sequencing.
  
  
  RESULTS
  Four mutations in BRCA1 gene, including 2 novel splice-site mutations (IVS17-1G>T, IVS21+1G>C) and 2 frameshift mutations (1100delAT; 5640delA) were identified. One frameshift mutation (5802delAATT) was detected in exon 11 of BRCA2. Additional 12 novel single nucleotide polymorphisms(SNPs) were detected, including a novel unclassified variant and 7 novel intronic variants in BRCA1, and 4 novel intronic variants in BRCA2, with which all caused no alteration of amino acid coding. The mutation frequency of BRCA1 and BRCA2 in patients with family history was 11.4% and 2.9%, respectively.
  
  
  CONCLUSIONS
  Two novel mutations in BRCA1 may be mutations characterized to familial breast cancer of Chinese Shanghai population. The BRCA2 may contribute to mutation less than BRCA1 in familial breast cancer. Our data contribute to information on mutation spectrum of BRCA gene in Chinese population and also offer a recommended screening mode for clinical genetic testing policy in China.
authors.affiliation: Breast Cancer Institute, Cancer Hospital/Cancer Institute, Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, P. R. China.
authors.forename: Chuan-gui
authors.initials: CG
authors.lastname: Song
authors.forename: Zhen
authors.initials: Z
authors.lastname: Hu
authors.forename: Wen-tao
authors.initials: WT
authors.lastname: Yuan
authors.forename: Gen-hong
authors.initials: GH
authors.lastname: Di
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: D044466:Asian People / Q000235:genetics; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D002681:China; D004273:DNA, Neoplasm / Q000032:analysis; D005192:Family Health; D005260:Female; D006801:Humans; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D004273:DNA, Neoplasm