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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer.

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.[1]

References

  1. The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer. Radvanyi, L., Singh-Sandhu, D., Gallichan, S., 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, N.L. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
 
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