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

Radvanyi, Laszlo, Singh-Sandhu, Devender, Gallichan, Scott, Lovitt, Corey, Pedyczak, Artur, Mallo, Gustavo, Gish, Kurt, Kwok, Kevin, Hanna, Wedad, Zubovits, Judith, Armes, Jane, Venter, Deon, Hakimi, Jalil, Shortreed, Jean, Donovan, Melinda, Parrington, Mark, Dunn, Pamela, Oomen, Ray, Tartaglia, James and Berinstein, Neil L. (2005) The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer. Proceedings of the National Academy of Sciences, 102 31: 11005-11010. doi:10.1073/pnas.0500904102

Author Radvanyi, Laszlo
Singh-Sandhu, Devender
Gallichan, Scott
Lovitt, Corey
Pedyczak, Artur
Mallo, Gustavo
Gish, Kurt
Kwok, Kevin
Hanna, Wedad
Zubovits, Judith
Armes, Jane
Venter, Deon
Hakimi, Jalil
Shortreed, Jean
Donovan, Melinda
Parrington, Mark
Dunn, Pamela
Oomen, Ray
Tartaglia, James
Berinstein, Neil L.
Title The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer
Journal name Proceedings of the National Academy of Sciences   Check publisher's open access policy
ISSN 0027-8424
Publication date 2005-08-02
Sub-type Article (original research)
DOI 10.1073/pnas.0500904102
Open Access Status Not yet assessed
Volume 102
Issue 31
Start page 11005
End page 11010
Total pages 6
Place of publication Washington, DC, United States
Publisher National Academy of Sciences
Language eng
Formatted abstract
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.
Keyword Gene expression profiling
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Mater Research Institute-UQ (MRI-UQ)
School of Medicine Publications
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