Firm plans development of blood-based diagnostics for DNA-mutation detection for cancer and other diseases.

Transgenomic licensed a high-sensitivity mutation-detection technology called Cold-PCR from the Dana-Farber Cancer Institute (DFCI). The licensing terms include exclusive rights to commercialize Cold-PCR technology combined with Sanger sequencing as well as all applications for mitochondrial DNA analysis.

This variation of standard PCR enriches mutations in DNA samples and is a much more sensitive technique for finding low-level mutations in tissue and body fluids that are involved with a variety of diseases, the company explains.
Cold-PCR was invented at DFCI by Mike Makrigiorgos, Ph.D., who reportedly demonstrated its effectiveness in mutation enrichment in cancer-related genes in samples where standard DNA sequencing is not sensitive enough to detect these very low-concentration somatic DNA mutations.

“During our option period we tested the feasibility of Cold-PCR and developed practical laboratory improvements to the technology,” says Eric Kaldjian, M.D., CSO at Transgenomic. “We demonstrated reproducible 30- to 50-fold enrichment of mutant cancer gene DNA, without needing any a priori information on the position of the mutation. What this means is that one mutant DNA molecule in 100 is effectively changed to one in two.

“As a result, we expect that Cold-PCR has significant applications with standard Sanger sequencing methods. Combining Cold-PCR with Transgenomic’s WAVE DHPLC and Surveyor Nuclease products may have the potential to detect one mutant copy of DNA out of as many as 1,000 normal copies, and the sensitivity is likely to keep improving.

“This will be valuable in cancer-related mutation detection of free DNA in blood and body fluids and in producing a mutation profile of primary tumors to predict resistance to targeted therapies,” Dr. Kaldjian adds. “It could also have application in analysis of mitochondrial DNA mutations, which can be present at very low levels.”

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