Browse the research registry public · Customer Self-Service

Research registry ID

Date submitted

Project lead

Title

Pan-Cancer Analysis of Structural Variant Prevalence

Community 1

Community 2

Community 3

Lay summary

SAGA Diagnostics uses a special technology to study cancer. They look at specific changes in a patient’s tumor using a method called digital PCR (dPCR).  dPCR is a highly specific method of detecting changes in DNA by splitting the reaction into thousands of smaller reactions. This allows for a specific change in DNA to be detected accurately and with high sensitivity.   SAGA has a unique dPCR method that allows for the rapid and cost-effective detection of DNA molecules.
The DNA changes detected by SAGA are called structural variants (SVs), which are new junctions of DNA formed in cancer cells that are specific to the tumour and are not seen in normal DNA. They are challenging to detect and therefore haven’t been studied in as much detail as some other DNA changes. SAGA diagnostics wants to understand how common SVs are in specific types of cancer.  The Genomics England data is one of the largest collections of cancer genomic sequences; by studying the SVs present in these many cancer genomes, it will allow SAGA to improve its ability to detect these poorly understood SVs. This information will help SAGA identify the SVs in a tumour samples that will be useful for creating diagnostic blood tests and therefore, allow the monitoring of a patients’ response to cancer treatment. Overall, their goal is to improve SAGA’s method of cancer monitoring for patients and provide a technology that is both affordable and scalable so that it can be made accessible to patient’s globally.

In this section