Transgenomic, Inc. has entered into a collaboration with Amgen Inc. to develop a CE-IVD test to screen patients with metastatic colorectal cancer (mCRC) for  RAS mutations (KRAS and NRAS). These RAS mutations, identified using the CE-IVD CRC RAScan kits which use Surveyor-Wave technology, provide physicians with important information regarding tumor mutation status to inform clinical treatment decisions for their mCRC patients. Financial terms of the agreement were not disclosed.

“This collaboration with Amgen is indicative of how Transgenomic’s proprietary molecular technologies are advancing personalized medicine,” said Craig Tuttle, chief executive officer of Transgenomic. “This highly precise, innovative test was developed at Transgenomic’s laboratories, which excel in genomic and genetic analysis, novel technology development, and its application in clinical research and trials.”

Transgenomic’s CLIA-certified laboratory in the United States (US) is available immediately to receive patient samples for testing. In Europe, CE-IVD registered test kits will be available for purchase shortly.

CRC RAScan utilizes the DNA mismatch-cutting enzyme SURVEYOR Nuclease, developed exclusively by Transgenomic. This enzyme recognizes nucleotide mismatches in a mixture of wild-type and mutant DNAs reflective of what is found in tumour biopsy samples. The enzyme cleaves at the site of the mismatch; cleavage products can be very simply detected and are indicative of the presence of a potential mutation in a target DNA sequence. Sanger sequencing can subsequently identify the detected base change in gene regions covered by the CRC RAScan assay test. The SURVEYOR Nuclease assay can detect mutations at higher levels of sensitivity than stand-alone Sanger sequencing. CRC RAScan results can also be used to inform marginal or difficult to resolve sequencing results. Additionally, in gene regions where mutations exist at low frequencies, prescreening with CRC RAScan affords a cost and timeefficient workflow, as only CRC RAScan positive samples are advanced to the more complex and expensive Sanger sequencing analysis.

Colorectal cancer is the third most frequent cause of cancer death among men and women in the United States and Canada.
KRAS and NRAS are part of the RAS family of genes that encodes proteins involved in transmitting signals within cells. When RAS proteins are “switched on” by incoming signals, other genes involved in cell growth, differentiation and survival are activated. Mutations in KRAS, NRAS and other related genes can lead to RAS-encoded proteins becoming permanently activated, causing overactive signaling even in the absence of incoming signals, and can lead to the uncontrolled cell growth that characterizes cancer.

Mutations that permanently activate RAS-encoded proteins are found in approximately 25% of human tumours and up to 90% of certain cancers. About 40% of colorectal tumors carry KRAS gene mutations and these mutations have been associated with poor response to EGFR antagonists.

Transgenomic, Inc. is a global biotechnology company advancing personalized medicine in cardiology, oncology, and inherited diseases through its proprietary molecular technologies and world-class clinical and research services.