BRCA1/2 expression in breast tumours

One in nine women will develop breast cancer within their lifetime, equating to around 3,000 New Zealanders annually.

Previous research has indicated that around 5-10% of these people carry genetic variants that can be used to guide patient management, directing their clinical care to the most effective treatment options and lowering the individual risk of recurrence. At least 10% additional patients carry genetic changes referred to as variants of unknown clinical significance. There is a lot of uncertainty around whether these variants increase risk of disease or not. Current classification tools have been unable to obtain the evidence required to confirm or rule out pathogenicity for the majority of these variants. BaseScope is a novel technology that allows gene expression to be observed in single cells.

This study will determine whether this new technology can be used diagnostically to identify people who carry genetic variants that are associated with an increased risk of breast cancer. A key outcome from this proposal may be the development of an innovative genomic-based method for evaluating genetic changes responsible for cancer and other inherited diseases.