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CTCF gene mutations in invasive ductal breast cancer

Sebastian Aulmann1, Hendrik Bläker, Roland Penzel

  • 1Department of Pathology, University of Heidelberg, Germany. sebastian_aulmann@med.uni-heidelberg.de

Breast Cancer Research and Treatment
|September 25, 2003
PubMed

Insights

CTCF, a c-myc repressor, is frequently deleted in breast cancer. A truncating mutation in CTCF was found in one invasive ductal breast carcinoma case, suggesting its role in tumor development.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • The CTCF gene, a transcriptional repressor of the c-myc oncogene, is located on chromosome 16q22.1.
  • This region is frequently deleted in invasive lobular and ductal breast carcinomas.
  • CTCF's role in invasive ductal breast cancer (IDBC) remains unclear.

Purpose of the Study:

  • To investigate CTCF protein expression and genetic alterations in IDBC.
  • To determine if CTCF is a target gene in IDBC.

Main Methods:

  • Immunohistochemistry was used to assess CTCF protein expression in 18 IDBC tumors.
  • Loss of heterozygosity (LOH) analysis was performed on chromosome 16q22.1.
  • The CTCF cDNA sequence was screened for mutations.

Main Results:

  • CTCF protein was moderately to strongly expressed in 17 out of 18 tumors.
  • One tumor showed complete loss of CTCF staining.
  • Sequencing revealed a tumor-specific truncating mutation in CTCF in the negative case, silencing the wild-type allele.
  • A non-tumor-specific missense mutation was identified in another case.

Conclusions:

  • CTCF may play a role in tumor initiation or proliferation in a subset of invasive ductal breast carcinomas.
  • The identified CTCF mutation provides evidence for its involvement in IDBC development.

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