title: Prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi, China.
abstract: OBJECTIVE
  The prevalence of breast cancer susceptibility gene 1 mutation in breast cancer patients of south China has not been well revealed. This study was to invest the prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi, China, and to try reflecting its relevance in genetic counseling of breast cancer.
  
  
  METHODS
  In this study, 463 breast cancer patients and 30 healthy women (control group) were involved. Entire sequence and splicing sites of BRCA1 genes were detected by PCR-DNA sequencing.
  
  
  RESULTS
  About 8.9% (41/463) patients were with 22 BRCA1 mutations (all in exon 10). The average hospitalized age of BRCA1-associated breast cancer cases was significantly younger (t = -2.965, P = 0.003). The nuclear grade (U = 2321.0, P = 0.030), ER (U = 4343.5, P = 0.041) and CerbB-2 (U = 3894.0, P = 0.038) expression levels, and triple negative breast cancer diagnosing rate (χ(2) = 4.719, P = 0.03) were disclosed more in BRCA1-associated patients.
  
  
  CONCLUSIONS
  The four most frequent BRCA1 mutation (2798 T > C, 3971 G > A, 3971 G > A and 624 C > T) found in female breast cancer cases in Guangxi are all located in exon 10. BRCA1-associated breast cancer cases have earlier onset age, higher nuclear grade and negative ER and CerbB-2 expression.
authors.affiliation: Department of Diagnostic Ultrasound, The First Affiliated Hospital of Guangxi Medical University Nanning, Guangxi, China.
authors.forename: Liping
authors.initials: L
authors.lastname: Sun
authors.affiliation: Department of Diagnostic Ultrasound, The First Affiliated Hospital of Guangxi Medical University Nanning, Guangxi, China.
authors.forename: Junjie
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Diagnostic Ultrasound, The First Affiliated Hospital of Guangxi Medical University Nanning, Guangxi, China.
authors.forename: Sida
authors.initials: S
authors.lastname: Wang
authors.affiliation: Department of Diagnostic Ultrasound, The First Affiliated Hospital of Guangxi Medical University Nanning, Guangxi, China.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Diagnostic Ultrasound, The First Affiliated Hospital of Guangxi Medical University Nanning, Guangxi, China.
authors.forename: Zhixian
authors.initials: Z
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D019313:BRCA1 Protein / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D001943:Breast Neoplasms / Q000737:chemistry / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D060787:Neoplasm Grading; D010641:Phenotype; D011237:Predictive Value of Tests; D012307:Risk Factors; D064726:Triple Negative Breast Neoplasms / Q000208:ethnology / Q000235:genetics; D055815:Young Adult
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D014408:Biomarkers, Tumor
keywords: BRCA1 gene mutation; Breast cancer; histopathology; pathology