LSI Challenge: Health

Despite significant advances in the diagnosis and treatment of breast cancer (BC) it remains the leading cause of cancer mortality in women.  In regard to treatment, actionable mutations which can be targeted by FDA approved treatments are identified in only ~40% of patients.  Therefore may women cannot benefit from current treatments, identifying a need for newer drug targets to be identified. Traditionally, biomarker and cancer drug discovery has focused on mutations which occur in the protein-coding region of the genome. However, increasing evidence highlights non-coding mutations (NCMs) as promoters of oncogenesis and that they represent biomarkers for drug development or treatment selection. While several whole genome sequencing studies have identified novel NCMs with biomarker potential in BC patients, prioritising driver from passenger remains a key challenge. The characterisation and functional evaluation of novel NCMs is critical to enhance our understanding of BC and develop precision medicine strategies to improve patient care.