DR-118 The role of chromosomal catastrophe in breast cancer pathogenesis

HER2-positive breast cancer is an aggressive subtype driven by amplification of the Her2/Erbb2 gene. This oncogene is thought to be amplified via chromothripsis, a catastrophic event that causes massive genomic rearrangements. Characterizing chromothripsis in HER2-positive breast cancer is an important step towards improved therapeutic targeting. We will use whole-genome sequencing data to identify structural rearrangements at single nucleotide resolution and infer mechanisms of chromosome shattering and repair. We hope to understand whether chromothripsis associated with poor outcome in HER2-positive breast cancer, the prevalence in metastatic vs. non-metastatic tumors, and how treatment influences chromothripsis.

Christina Curtis Stanford University School of Medicine USA