title: [Analysis of BRCA1 gene mutations in patients with early-onset breast cancer and their affected relatives in Guangdong province].
abstract: OBJECTIVE
  To study the BRCA1 mutations in patients with early-onset breast cancer and their affected relatives in Guangdong province and explore the relationship between BRCA1 mutation and the expressions of estrogen receptor(ER), progesterone receptor(PR), HER2 and ALN.
  
  
  METHODS
  From 58 patients with early-onset breast cancer and their affected relatives, the genomic DNA was extracted from the peripheral blood mononuclear cells and the coding regions of the BRCA1 gene was amplified using polymerase chain reaction. BRCA1 gene mutations were screened by denaturing high performance liquid chromatography (DHPLC) and subsequent direct DNA sequencing. The expression of ER, PR, HER2 and ALN were detected with immunohistochemistry and their relations with the gene mutation were analyzed.
  
  
  RESULTS
  Disease-related BRCA1 mutations were detected in 2 of the 58 patients, who were younger than 35 years old, including 1 with a novel splice-site mutation (IVS5-1 G-->A). No association was found between this novel mutation and the expressions of ER, PR, HER2 and ALN.
  
  
  CONCLUSIONS
  The incidence of BRCA1 mutation is significantly lower in patients with early-onset breast cancer and their affected relatives in Guangdong province than in the Western populations. The novel mutation identified in BRCA1 gene may represent a mutation characteristic of the patients in Guangdong province. BRCA1 gene mutations may not have any relation with the expression of ER, PR, HER2 and ALN.
authors.affiliation: Department of Breast Surgery, Second Affiliated Hospital of Sun Yat-sen University, Guangzhou 510120, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Zhou
authors.forename: Nan-yan
authors.initials: NY
authors.lastname: Rao
authors.forename: Shun-rong
authors.initials: SR
authors.lastname: Li
authors.forename: Liang
authors.initials: L
authors.lastname: Jin
authors.forename: Wei-Juan
authors.initials: WJ
authors.lastname: Jia
authors.forename: Chang
authors.initials: C
authors.lastname: Gong
authors.forename: Feng-yan
authors.initials: FY
authors.lastname: Yu
authors.forename: Feng-xi
authors.initials: FX
authors.lastname: Su
authors.forename: Er-wei
authors.initials: EW
authors.lastname: Song
authors.forename: Zhi-min
authors.initials: ZM
authors.lastname: Shao
mesh_terms: D000328:Adult; D017668:Age of Onset; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D018719:Erb-b2 Receptor Tyrosine Kinases / Q000235:genetics; D011960:Receptors, Estrogen / Q000235:genetics; D011980:Receptors, Progesterone / Q000235:genetics
chemical_list: D018719:Erb-b2 Receptor Tyrosine Kinases; D011960:Receptors, Estrogen; D011980:Receptors, Progesterone; C508053:ERBB2 protein, human