New Digital PCR-Based Research Solution Characterizes Hard-to-Detect Cancer Mutations

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Mauricio Minotta
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New Digital PCR-Based Research Solution Characterizes Hard-to-Detect Cancer Mutations
QuantStudio 3D Rare Mutation Analysis Solution with TaqMan assay guarantee is designed
to accurately elucidate tumor heterogeneity in clinical research samples

CARLSBAD, Calif. – Oct. 20, 2014 – Thermo Fisher Scientific announced today the release of the QuantStudio 3D Rare Mutation Analysis Solution,  a panel of wet-lab validated assays combined with an enhanced software tool that enables researchers to detect and quantify 40 of the most common mutations in cancer genes at a prevalence as low as 0.1 percent.

Tumor heterogeneity presents a significant barrier for clinical researchers to fully understand cancer samples with low-frequency mutations and, in turn, impedes future development of targeted strategies to address them. The ability to accurately characterize these complex tumors can help researchers better understand the root cause and progression of the disease.

“Our laboratory is investigating methods to quantify the presence of mutations in cancer-related genes in circulating free DNA,” said Atocha Romero, PharmD, Ph.D., Molecular Oncology Laboratory, Hospital Clinico San Carlos. “We have tested the PIK3CA H1047R Custom TaqMan SNP Genotyping Assay on the QuantStudio 3D Digital PCR System, and we have observed that the sensitivity we can achieve with this assay is far superior than with other approaches. This assay meets all of our requirements for quantifying low-frequency mutations in circulating-free DNA.”

The QuantStudio 3D Rare Mutation Analysis Solution includes 40 wet-lab-validated TaqMan SNP genotyping assays that target the most common cancer mutations, including EGFR, BRAF, KRAS, PIK3CA, and JAK2. Its primary and secondary software enhancements are also designed with specific features for analysis of low-frequency alleles on the QuantStudio 3D Digital PCR System. The assays are covered by the TaqMan QPCR Guarantee Program, which will replace or fully refund the purchase price if the assays fall short of their stated quality and performance (see Guarantee Terms & Conditions). 

The QuantStudio 3D Digital PCR System provides deep detection and quantification beyond the limits of standard technologies such as traditional qPCR. The single workflow solution is also ideal for confirming variants identified in next-generation sequencing studies. The system combines the best features of the digital PCR technology and gold-standard TaqMan chemistry.

Increasing the sensitivity through technologies such as digital PCR expands the limits of cancer research by enabling studies on sample types that carry minute amounts of mutant DNA in a wild-type background, such as circulating free DNA and circulating tumor cells in peripheral blood. Research in this area could open the door to development of non-invasive technologies to diagnose, treat and manage cancer and revolutionize the practice of oncology and patient outcomes in the future. 

“The QuantStudio 3D Digital PCR System delivers absolute quantification data with high precision and high sensitivity,” said Chris Linthwaite, head of Genetic Sciences Research for Thermo Fisher Scientific. “Coupled with our performance-guaranteed genotyping assays designed to elucidate low-frequency mutations, the new end-to-end solution addresses a pressing need for cancer researchers.”

More information on the Thermo Fisher Scientific QuantStudio® 3D Digital PCR System and wet-lab validated Custom TaqMan SNP genotyping assays can be found here.

The QuantStudio 3D Digital PCR System and TaqMan SNP genotyping assays are For Research Use Only; Not for use in diagnostic procedures.

About Thermo Fisher Scientific
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