High throughput Detection of Cancer-Associated Genetic Mutations

Researchers at the National Genetics Reference Laboratory in Wessex, UK, are using conformation sensitive capillary electrophoresis (CSCE) on an Applied Biosystems 48 capillary 3730 DNA Analyzer to scan the BRCA1 and BRCA2 breast cancer genes for unknown mutations.
 
Chris Mattocks and his colleagues have been testing the method extensively for eighteen months and found it to be very promising, “We were looking for a more efficient way of high throughput scanning for mutations with a very high degree of sensitivity.”

“Capillary-based electrophoresis is substantially less laborious than gel electrophoresis and, so far, the technique has picked up 100 per cent of known mutations in breast cancer samples in various blinded analyses.”

“We chose the Applied Biosystems Analyzers because of their throughput capacity and speed of analysis. Our expected throughput for breast cancer samples will be about 100,000 analyses per year but that is only about one twentieth of our proposed capacity!"

The researchers are analysing data with GeneMapper® software and all sequencing detected mutations are confirmed and characterised by sequencing on an Applied Biosystems 3130xl DNA Analyzer.

The scientists are now ready to apply the same methodology to unknown mutations in other genes, including those linked to colon cancers and disorders such as Marfan's disease.