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ExonHit Reports Proof-of-Concept in Breast Cancer Diagnostic Using its SpliceArray(TM) Platform
Date:3/16/2009

e human genome and enable the identification of known splice variants as well as the detection of variants which have not yet been discovered or catalogued. They represent a significant improvement over DNA arrays which only quantify expression at the gene level.

The study conducted by Institut Gustave Roussy and leading to this signature identification is the first study based on a large dataset of 165 breast tumor samples that compares gene expression of malignant versus benign breast tumors. The signature was tested on 71 tumor samples, 68 of which were properly classified; sensitivity and specificity were respectively 96% and 95% [1].

About ExonHit's SpliceArray(TM)

ExonHit's SpliceArray(TM) platform represents a novel generation of microarrays that incorporates a specific probe configuration, enabling an exhaustive monitoring of RNA splice variants [2]. The Human Genome Wide SpliceArray(TM) biochips which profile close to 21,000 human genes associated to 140,000 RNA splice events have been used in the Company's biomarker discovery process.

RNA splicing represents a key regulatory mechanism of gene expression. One single gene can be transcribed into several splice variants encoding proteins exhibiting different biological functions. Current predictions suggest that as many as 80% of human genes exhibit some form of alternative splicing. Given the large contribution of splice variants to the human transcriptome and the high density of disease-causing mutations that occur in splicing-related sequences, the monitoring of alterations in alternatively spliced transcripts represents not only a source of potential drug targets, but also a biomarkers discovery engine.

About Institute Gustave Roussy

The Institut Gustave Roussy (IGR, Villejuif, France), European leading Comprehensive Cancer Center, is a non profit academic entity belonging to the French public hospi
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SOURCE ExonHit Therapeutics SA
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