Tumor Biology

, Volume 36, Issue 5, pp 3215–3220 | Cite as

HIF-1α (1772C>T) polymorphism as marker for breast cancer development

  • Phanni bhushann Meka
  • Anuradha Cingeetham
  • Santhoshi Rani Nanchari
  • Surekha Damineni
  • Nageshwarao Tipirisetti
  • Manjula Gorre
  • Sarika Jarjapu
  • Sandhya Annamaneni
  • Raghunadharao Digumarthi
  • Vishnupriya Satti
Research Article


Hypoxia-inducible factor 1α (HIF-1α) is an important transcription factor that regulates different cellular responses to hypoxia. HIF-1α is rapidly degraded by von Hippel–Lindau (VHL) protein under normoxic conditions and stabilized under hypoxia. A common variant of HIF-1α (1772C>T) (rs 11549465) polymorphism, corresponding to an amino acid change from proline to serine at 582 position within the oxygen-dependent degradation domain, results in increased stability of the protein and altered transactivation of its target genes. The present study was aimed to find the association between HIF-1α (1772C>T) (rs 11549465) polymorphism and breast cancer development. For this purpose, 348 primary breast cancer patients and 320 healthy and age-matched controls were genotyped through PCR-RFLP method. The genotype frequencies were compared between patients and controls, and their influence on clinical characteristics of breast cancer patients was analyzed. Our study revealed a significant increase of TT genotype in breast cancer patients compared to controls (p = 0.038). Further, TT genotype and T allele were found to be associated with progesterone receptor (PR)-negative status (p < 0.09). None of the clinical variables revealed significant association with HIF-1α (1772C>T) (rs 11549465) polymorphism.


HIF-1α Breast cancer Polymorphism PCR-RFLP 



We would like to thank Nizam’s Institute of Medical Sciences, Hyderabad, for providing samples from the breast cancer patients.

Conflicts of interest



This study was funded by University Grants Commission-Centre for Advanced Studies (UGC-CAS-II), New Delhi and DBT-OU-ISLARE. PM is thankful to UGC-CAS-II for providing fellowship.


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Copyright information

© International Society of Oncology and BioMarkers (ISOBM) 2014

Authors and Affiliations

  • Phanni bhushann Meka
    • 1
  • Anuradha Cingeetham
    • 1
  • Santhoshi Rani Nanchari
    • 1
  • Surekha Damineni
    • 2
  • Nageshwarao Tipirisetti
    • 1
  • Manjula Gorre
    • 1
  • Sarika Jarjapu
    • 1
  • Sandhya Annamaneni
    • 1
  • Raghunadharao Digumarthi
    • 3
  • Vishnupriya Satti
    • 1
  1. 1.Department of GeneticsOsmania UniversityHyderabadIndia
  2. 2.Indian Institute of ScienceBangaloreIndia
  3. 3.Homi Bhabha Cancer Hospital and Research CentreVisakhapatnamIndia

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