Proof-of-concept for breast cancer diagnostics shown for ExonHit's RNA splicing platform

23 March 2009

Paris-based ExonHit Therapeutics (Alternext: ALEHT) has reported the publication in Lancet Oncology of a study conducted by Institut Gustave Roussy, which describes the identification of a deregulated cell function in breast cancer through the analysis of alternative RNA splicing [1].

Study data demonstrate that exons are differently expressed in malignant and benign lesions, and alternative transcripts determine the molecular characteristics of breast malignancy.

"The splice variants that we have identified could be used as targets for development of targeted therapies and also for a more precise diagnostic test. A molecular diagnosis for breast cancer could improve the performance of current diagnosis methods by increasing accuracy of cytological investigations and decreasing the use of core-needle biopsy or exploratory surgery," said Fabrice Andre, MD Breast Cancer Unit, Department of Medical Oncology, Institut Gustave Roussy, Villejuif, France. He added: "Patients could greatly benefit from a more precise diagnosis."

"We are very happy to report that this independent study demonstrates the clinical usefulness of our SpliceArray platform. It constitutes another example of its many possible applications," said Dr Loic Maurel, President of the Management Board of ExonHit Therapeutics.

"We are using the same technology platform for all our blood based diagnostic projects; our internally funded diagnostic test for Alzheimer's disease (EHT Dx21) and the breast, colon and prostate cancer diagnostics developed with bioMerieux. We look forward to seeing other applications of our technology and launching the first product developed with this technology on the market."

SpliceArray biochips are ExonHit's proprietary research tools. They quantify mRNA expression at the exon level. They also provide a comprehensive RNA splicing analysis across the entire 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 tumour samples that compares gene expression of malignant versus benign breast tumours. The signature was tested on 71 tumour samples, 68 of which were properly classified; sensitivity and specificity were respectively 96% and 95% [1].


1. Andre F, Michields S, Dessen P, Scott V, Suciu V, Uzan C,
Lazar V, Lacroix L, Vassal G, Spielmann M, Vielh P, Delaloge S.
Exonic expression profiling of breast cancer and benign lesions: a
retrospective analysis. The Lancet Oncology, Early Online
Publication, 26 February 2009.

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