New test for detecting BRCA1 and BRCA2 mutations

11 November 2013

A new test has been developed for detecting mutations in the BRCA1 and BRCA2 genes that are associated with breast cancer.

While the demand for genetic testing has soared in recent years - largely due to public recognition of the link - the existing tests can be expensive and time-consuming. This latest technique, described in the Journal of Molecular Diagnostics, uses second-generation sequencing technology to improve the efficiency of the process.

"In our laboratory, approximately 25% of high-risk patients who undergo BRCA1 or BRCA2 testing will generate a result with a real or ambiguous relationship to hereditary cancer risk, and so testing for these mutations is an important tool to identify individuals who would benefit from preventative surgery or increased breast cancer surveillance," said lead investigator Dr Aly Karsan, from the Genome Sciences Centre and Department of Pathology of the BC Cancer Agency.



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