Triple-negative breast cancer (TNBC) accounts for up to 20% of all breast cancer cases. For nearly half of all TNBC patients, their cancer will spread, frequently to the brain. Notably, for TNBC patients the spread to the brain happens earlier than in other breast cancers, which reduces both quality of life and life expectancy. Sadly, once the cancer has spread to the brain treatment options are limited, have severe side effects, and often only give minor improvements in overall survival.

We know that the BARD1 gene codes for a protein needed for cells to function correctly. However when cells produce large quantities of some variant forms of BARD1, it results in cancer development and progression. Our early results suggest that 5-10% of TNBC patients will have a variant form of BARD1 that alters cell function and increases the chance of metastasis to the brain and central nervous system.

Identifying patients at high risk of brain metastasis remains challenging. We will use state-of-the-art technologies like gene editing and next-generation sequencing in combination with molecular cytogenetic screening to unravel how BARD1 to unravel which variants of BARD1 lead to brain metastasis

FIRST NAMED INVESTIGATOR: Dr Magdalena Ratajska
HOST INVESTIGATOR: Department of Pathology, University of Otago, Dunedin