title: [Analysis of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives].
abstract: OBJECTIVE
  To study the BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives.
  
  
  METHODS
  Genomic DNA from 41 patients' peripheral blood mononuclear cells was studied by using polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and DNA sequencing. BRCA1 mutations were detected in the whole gene sequence.
  
  
  RESULTS
  Disease-related BRCA1 mutations were detected in 3 of the 41 patients studied. Two of the 3 patients were younger than 35 years old, and one patient with family history.
  
  
  CONCLUSIONS
  The incidence of BRCA1 mutations in Chinese patients with early onset breast cancer is similar to that reported from western countries, but the incidence of mutations in Chinese breast cancer patients with affected relatives is comparatively low.
authors.affiliation: Department of Breast Surgery, Cancer Hospital/Institute, Fudan University, Shanghai 200032, China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Hu
authors.forename: Jiong
authors.initials: J
authors.lastname: Wu
authors.forename: Jin-song
authors.initials: JS
authors.lastname: Lu
authors.forename: Jian-min
authors.initials: JM
authors.lastname: Luo
authors.forename: Qi-xia
authors.initials: QX
authors.lastname: Han
authors.forename: Zhen-zhou
authors.initials: ZZ
authors.lastname: Shen
authors.forename: Zhi-min
authors.initials: ZM
authors.lastname: Shao
mesh_terms: D000328:Adult; D017668:Age of Onset; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000097:blood; D005091:Exons; D005260:Female; D019398:Genes, BRCA1; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000737:chemistry; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D019313:BRCA1 Protein; D004273:DNA, Neoplasm