Mutation analysis of the HIF-1alpha oxygen-dependent degradation domain in invasive breast cancer

Cancer Genet Cytogenet. 2005 Dec;163(2):168-72. doi: 10.1016/j.cancergencyto.2005.05.008.

Abstract

Hypoxia inducible factor-1 (HIF-1) is an important transcription factor that stimulates tumor growth and metastases via several pathways. Activation of HIF-1 depends on the presence of its alpha-subunit. Hypoxia increases HIF-1alpha levels by inhibiting prolyl-hydroxylase--mediated hydroxylation and thereby preventing proteosome degradation. Various other mechanisms might also contribute to HIF-1alpha expression, such as mutation of the oxygen dependent degradation domain (ODD), which prevents binding of prolyl-hydroxylases. Therefore, the presence of ODD mutations was evaluated as a possible explanation for diffuse HIF-1alpha protein expression often seen in invasive breast cancer. From a group of 200 primary breast cancers, 24 strong diffusely HIF-1alpha-positive tumor samples were identified with HIF-1alpha immunohistochemistry. DNA from these tumors was extracted from microdissected paraffin material and, after nested polymerase chain reaction, sequence analysis was performed to detect hif-1alpha ODD mutations. Additionally, five perinecrotically HIF-1alpha-positive breast cancers were analyzed as controls. All 24 diffuse and perinecrotic HIF-1alpha-positive breast cancers showed wild-type DNA sequences in the ODD domain. No mutations seem to occur in the ODD of hif-1alpha in HIF-1alpha overexpressing invasive breast cancer, which rules ODD mutations out as a possible explanation for the diffuse HIF-1alpha expression pattern often seen in this cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology*
  • DNA Primers
  • Female
  • Humans
  • Hypoxia-Inducible Factor 1, alpha Subunit / genetics*
  • Immunohistochemistry
  • Mutation*
  • Neoplasm Invasiveness*
  • Oxygen / metabolism*
  • Polymerase Chain Reaction

Substances

  • DNA Primers
  • HIF1A protein, human
  • Hypoxia-Inducible Factor 1, alpha Subunit
  • Oxygen