title: HER2 Codon 655 (Ile/Val) Polymorphism and Breast Cancer in Austrian Women.
abstract: BACKGROUND
  The overexpression of the human epidermal growth factor receptor 2 (HER2) in breast cancer (BC) is associated with impaired prognosis. Data concerning the HER2 codon 655 polymorphism (Ile/Val) and BC risk are conflicting.
  
  
  METHODS
  We studied the HER2 codon 655 (rs1136201) polymorphism in 80 Austrian patients with BC and 100 healthy volunteers by pyrosequencing and polymerase chain reaction. Associations between codon 655 allelic variants and clinicopathological variables (e.g. age, stage of disease, tumor type, grading, and receptor status) were studied with 2×2 tables.
  
  
  RESULTS
  The genotypic distributions in patients with BC (AA: 63.75%, AG: 32.5%, GG: 3.75%) and controls (AA: 63%, AG: 34%, GG: 3.7%) were virtually identical (odds ratio=1.03, 95% confidence interval=0.56-1.90). A non-significant link between carrying at least one G allele and more aggressive tumor type (estrogen receptor-negative p=0.08, G3 tumor p=0.19) was observed.
  
  
  CONCLUSIONS
  Genotypic variation within the codon 655 of HER2 does not alter the BC risk in Caucasian Austrian women. The association between the G allele and more aggressive tumor types requires further investigation.
authors.affiliation: Department of Gynecology and Obstetrics, St. Josefskrankenhaus, Teaching Hospital of the University of Freiburg, Freiburg, Germany Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Vienna, Austria Rafal.Watrowski@gmx.at.
authors.forename: Rafał
authors.initials: R
authors.lastname: Watrowski
authors.affiliation: Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Vienna, Austria.
authors.forename: Dan Cacsire
authors.initials: DC
authors.lastname: Castillo-Tong
authors.affiliation: Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Vienna, Austria.
authors.forename: Andrea
authors.initials: A
authors.lastname: Wolf
authors.affiliation: Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Vienna, Austria.
authors.forename: Eva
authors.initials: E
authors.lastname: Schuster
authors.affiliation: Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Vienna, Austria.
authors.forename: Michael B
authors.initials: MB
authors.lastname: Fischer
authors.affiliation: Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Vienna, Austria.
authors.forename: Paul
authors.initials: P
authors.lastname: Speiser
authors.affiliation: Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Vienna, Austria.
authors.forename: Robert
authors.initials: R
authors.lastname: Zeillinger
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001315:Australia; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D018734:Genes, erbB-2 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018719:Erb-b2 Receptor Tyrosine Kinases / Q000235:genetics*
chemical_list: D018719:Erb-b2 Receptor Tyrosine Kinases; C508053:ERBB2 protein, human
keywords: ERBB2; HER2; Ile655Val; breast cancer; codon 655; polymorphism