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Genetic susceptibility to breast cancer : a new, more accurate diagnostic test for mutation screeningGenetic susceptibility to breast cancer: 

PARIS – A diagnostic test using molecular combing to screen for the genetic susceptibility to breast and ovarian cancers due to the BRCA1 and BRCA2 genes, has confirmed new complex structural mutations on both these genes. The test under development could be used as an essential complementary tool to current screening methods, according to the results of a study published in the June issue of Human Mutation (1).

“The effectiveness of current screening techniques remains limited due to the very high proportion of repetitive and difficult-to-sequence genome sequences in the BRCA1 and BRCA2 genes. There is therefore a real need for alternative technologies,” explains Dr Maurizio Ceppi, project manager at Genomic Vision and co-author of the study.

Hereditary mutations on one of the two BRCA genes (for BReast CA 1 and 2) mean the risk of developing breast cancer is ten to 20 times higher and is directly responsible for 5 to 10% of cases noted each year. These mutations include small alterations but also complex genome rearrangements that are far more difficult to characterize, even using the most effective technologies, such as Next-Generation Sequencing.

The test developed by Genomic Vision uses the proprietary technology of molecular combing, jointly discovered by its CEO, Dr Aaron Bensimon,

“The added value of this method lies in the detection and characterization of large genome rearrangements, in particular tandem repeat duplications, often improperly characterized by other processes. The test could effectively be used in addition to other current diagnostic methods, namely in patients for whom sequencing detects no harmful mutation”, underlines Maurizio Ceppi.

The study was conducted in collaboration with the Curie Institute, a pilot center for treating women with high-risk of breast cancer.

Breast cancer affects 10% of the female population. Around 1.4 million women are diagnosed every year with this illness throughout the world and 460.000 die of it.

The molecular combing technology used by Genomic Vision allows the structural and functional analysis of single DNA molecules at high resolution. DNA fibers are stretched out on glass slides, as if “combed”, and uniformly aligned over the entire surface. It is then possible to identify genetic anomalies by locating and directly visualizing genes or particular sequences on the patient’s genome using genetic markers, an approach developed by Genomic Vision under the name Genomic Morse Code.

 (1) Publication References:

A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2. Cheeseman, K., Rouleau, E., Vannier, A., Thomas, A., Briaux, A., Lefol, C., Walrafen, P., Bensimon, A., Lidereau, R., Conseiller, E. and Ceppi, M. (2012), Hum. Mutat., 33: 998–1009. doi: 10.1002/humu.22060

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About Genomic Vision

Founded in 2004, Genomic Vision is a biotechnologies company specializing in developing diagnostic tests for genetic diseases and in cancer genomics. It uses an extremely powerful technology, molecular combing, which allows direct visualization of individual DNA molecules in order to detect quantitative and qualitative variations in the genome and determine their contribution in a target pathology. Genomic Vision holds an exclusive license from the Pasteur Institute for this technology. The company headquarters and research facilities are located in Bagneux (near Paris), and it employs 40 people with sales of €3.2 million in 2011. The company has raised €10 million since its creation. For more information: