title: HER1 R497K and HER2 I655V polymorphisms are linked to development of breast cancer.
abstract: BACKGROUND
  Polymorphism of the genes of Human Epidermal growth factor receptor1 (HER1) and receptor2 (HER2) have been reported to be linked to pathogenesis of several malignant tumors but still there is contradiction regarding their association with breast cancer.
  
  
  OBJECTIVE
  In this case control study we aimed to analyze the frequency of HER1 R497K (rs 11543848) and HER2 I655V (rs 1136201) Polymorphisms in breast cancer.
  
  
  METHODS
  The frequency of HER1 Arg(R) 497Lys (K) and HER2 Ile (I) 655Val (V) polymorphisms were tested in 64 breast cancer patients and 86 normal control by polymerase chain reaction followed by restriction fragment polymorphism detection. Immunohistochemical analysis was done for HER2 protein on the available 18 malignant tissue samples.
  
  
  RESULTS
  HER1 497K and HER2 655V variant had significantly increased breast cancer risk (OR=2.6, 95% CI 1.6-4.2, OR=2.2, 95% CI 1.2-4.1, p< 0.05) respectively. Moreover, combined HER1 K497 and HER2 V655 variant was detected in 26.6% malignant in comparison to 8.14% of control group (OR=4.1, 95% CI 1.58-10.57), but, no significant association was noticed between both Polymorphisms and clinicopathological features of the disease. As regard HER2 immunohistochemical expression no significant correlation was revealed with HER2 655V polymorphism.
  
  
  CONCLUSIONS
  our findings suggest that HER1 497K and HER2 655V polymorphisms are potential risk factor for development of breast cancer.
authors.affiliation: Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Ain Shams University, Cairo, Egypt. naglaoda@hotmail.com
authors.forename: Naglaa R
authors.initials: NR
authors.lastname: AbdRaboh
authors.forename: Hanan H
authors.initials: HH
authors.lastname: Shehata
authors.forename: Manal B
authors.initials: MB
authors.lastname: Ahmed
authors.forename: Fatehia A
authors.initials: FA
authors.lastname: Bayoumi
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D002277:Carcinoma / Q000175:diagnosis / Q000235:genetics*; D016022:Case-Control Studies; D066246:ErbB Receptors / Q000235:genetics* / Q000378:metabolism; D005260:Female; D018226:Fibroadenoma / Q000235:genetics / Q000378:metabolism; D005787:Gene Frequency; D056726:Genetic Association Studies; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D018719:Erb-b2 Receptor Tyrosine Kinases / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors
chemical_list: D066246:ErbB Receptors; D018719:Erb-b2 Receptor Tyrosine Kinases; C512478:EGFR protein, human; C508053:ERBB2 protein, human