The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer Academic Article uri icon

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  • A comprehensive differential gene expression screen on a panel of 54 breast tumors and >200 normal tissue samples using DNA microarrays revealed 15 genes specifically overexpressed in breast cancer. One of the most prevalent genes found was trichorhinophalangeal syndrome type 1 (TRPS-1), a gene previously shown to be associated with three rare autosomal dominant genetic disorders known as the trichorhinophalangeal syndromes. A number of corroborating methodologies, including in situ hybridization, e-Northern analysis using ORF EST (ORESTES) and Unigene EST abundance analysis, immunoblot and immunofluorescence analysis of breast tumor cell lines, and immunohistochemistry, confirmed the microarray findings. Immunohistochemistry analysis found TRPS-1 protein expressed in >90% of early- and late-stage breast cancer, including ductal carcinoma in situ and invasive ductal, lobular, and papillary carcinomas. The TRPS-1 gene is also immunogenic with processed and presented peptides activating T cells found after vaccination of HLA-A2.1 transgenic mouse. Human T cell lines from HLA-A*0201+ female donors exhibiting TRPS-1-specific cytotoxic T lymphocyte activity could also be generated.


  • Radvanyi, L
  • Singh-Sandhu, D
  • Gallichan, Scott
  • Lovitt, C
  • Pedyczak, A
  • Mallo, G
  • Gish, K
  • Kwok, K
  • Hanna, W
  • Zubovits, J
  • Armes, J
  • Venter, D
  • Hakimi, J
  • Shortreed, J
  • Donovan, M
  • Parrington, M
  • Dunn, P
  • Oomen, R
  • Tartaglia, J
  • Berinstein, NL

publication date

  • August 2, 2005

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