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TrovaGene Licenses SF3B1 Mutations, Plans LDT

NEW YORK (GenomeWeb News) – TrovaGene today announced it is licensing mutations of the SF3B1 splicing factor, which have been associated with disease progression and chemotherapy response in patients with chronic lymphocytic leukemia.

Findings from a study published in the Dec. 22, 2011 issue of Blood suggest that SF3B1 mutations could be "important incremental" diagnostic markers beyond TP53 disruptions and Notch1 mutations in CLL patients, the San Diego-based company said in a statement, adding that the mutations may also provide a therapeutic target for SF3B1 inhibitors.

Because CLL is the most frequent type of leukemia in adults, the discovery of the mutations could affect many patients, said Gianluca Gaidano, a professor at the Amedeo Avogadro University in Italy, and the co-leader of a research team behind the Blood study. He and his colleagues, Davide Rossi at Amedeo Avogadro and Roberto Foa at the Sapienza University in Rome are also performing pre-clinical development of biomarkers.

Gaidano said that SF3B1 mutations could help to identify patients who may not respond to standard treatments and instead may benefit from more aggressive therapies. "Future goals in SF3B1 research include the development of a robust molecular assay for diagnosis, and the exploitation of SF3B1 as a therapeutic target for this leukemia," he said.

Antonius Schuh, CEO of TrovaGene said the company plans to offer laboratory-developed tests to detect SF3B1 mutations, "and to identify opportunities for the development of in vitro diagnostic products incorporating our proprietary markers."

Financial and other terms of the deal were not disclosed.

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