Technology allowing complete DNA mutation detection using the standard sequencing equipment already installed in laboratories around the world was launched.

The launch took place at the 2012 annual meeting of the American Society of Clinical Oncology (June 1-5, Chicago, IL, USA). The new method, called ice cold-polymerase chain reaction (PCR) technology, was developed by Transgenomic (Omaha, NE, USA) in collaboration with the Dana-Farber Cancer Institute (Boston, MA, USA) and supported by multiple validation studies confirming reproducible mutation detection at very high sensitivity–up to 1,000 times more sensitive than traditional PCR techniques. The technology is also being evaluated in an ongoing study with The University of Texas MD Anderson Cancer Center (Houston, TX, USA) to analyze DNA isolated from circulating tumor cells (CTCs).

Ice cold-PCR is capable of identifying mutation frequencies as low or lower than 0.01% which surpasses the limits of currently available mutation detection tests. This high sensitivity enables detection of mutations from virtually any sample type including tissue biopsies, blood, and circulating tumor cells (CTCs). Mutation profiling from blood and CTCs may benefit cancer patients because it avoids the risks of additional surgical procedures while providing an up-to-date picture of any additional mutations the cancer may have acquired throughout treatment.

Mutation profiling from blood and CTCs may benefit cancer patients because it avoids the risks of additional surgical procedures while providing an up-to-date picture of any additional mutations the cancer may have acquired throughout treatment.

An ice cold-PCR kit for enrichment of KRAS mutations is now available worldwide to molecular diagnostic laboratories for use with standard DNA sequencing equipment. Transgenomic plans to expand the ice cold-PCR testing platform to include other therapeutically relevant mutations including BRAF, EGFR, and PIK3CA.

"The broad use of ice cold-PCR has the potential to revolutionize cancer screening, diagnosis, monitoring, and therapy selection," said Craig Tuttle, CEO of Transgenomic. "It offers us the ability to accurately perform safer, less invasive, and more frequent assessments of a cancer and its mutations, all through a simple blood draw. Ultimately, the goal is to provide real-time monitoring of cancer progression, resistance mutations, and response to therapy."

Related Links:
Transgenomic
Dana-Farber Cancer Institute
University of Texas MD Anderson Cancer Center