Molecular Biology Reports

, Volume 40, Issue 2, pp 1813–1818 | Cite as

HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer

  • Oguz Ozturk
  • Emel Canbay
  • Ozlem T. Kahraman
  • M. Fatih Seyhan
  • Fatih Aydogan
  • Varol Celik
  • Cihan Uras


Although HER2/PTEN pathway is commonly disrupted in cancer, association of HER2 and PTEN polymorphisms with breast cancer (BC) remains controversial. We investigated the HER2 Ile655 Val and PTEN IVS4 polymorphisms in patients with BC in Turkish population. HER2 Ile655Val (rs 1136201) and PTEN IVS4 (rs 3830675) polymorphisms were determined using polymerase chain reaction-based restriction fragment length polymorphism (PCR–RFLP) in blood samples of 118 BC patients and 118 age-matched healthy controls. We found that the frequency of the Ile/Val genotype of HER2 Ile655Val gene was significantly higher in BC patients (p < 0.009; OR: 1,983 95 % CI: 1.181—3.328). The presence of ATCTT insertion (+/+) genotype at downstream of exon 4 in intron 4 of PTEN IVS4 gene was also associated with 1.83 fold decreased risk of BC development (p < 0.033; OR: 1.83, 95 % CI: 1.11—3.03). Analysis on clinico-pathological parameters showed neither HER2 Ile655Val nor PTEN IVS4 genotypes were not associated with any of the variables (p > 0.05).In conclusion, our findings suggest that the Ile/Val genotype of HER2 and ATCTT insertion (+/+) genotype of PTEN IVS4 gene may play an important role as genetic markers for breast cancer risk, but both genes genotypes may not be useful for predicting tumor prognosis in Turkish population.


PTEN IVS4 polymorphism HER2 polymorphism Breast cancer Turkish population 


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Copyright information

© Springer Science+Business Media Dordrecht 2012

Authors and Affiliations

  • Oguz Ozturk
    • 1
  • Emel Canbay
    • 2
    • 3
    • 4
  • Ozlem T. Kahraman
    • 1
  • M. Fatih Seyhan
    • 1
  • Fatih Aydogan
    • 5
  • Varol Celik
    • 5
  • Cihan Uras
    • 5
  1. 1.Department of Molecular MedicineIstanbul University, Experimental Medicine and Research Institute (DETAE)IstanbulTurkey
  2. 2.Derince Education and Research HospitalGeneral Surgery ClinicKocaeli-DerinceTurkey
  3. 3.NPO Organization to Support Peritoneal Dissemination TreatmentKishiwadaJapan
  4. 4.Department of General SurgeryTokushukai HospitalKishiwadaJapan
  5. 5.Department of Surgery, Breast ServicesIstanbul University Cerrahpasa Medical SchoolIstanbulTurkey

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