DR-511 The biological and clinical consequences of structural variants across tumor types

Cancers are characterized by substantial genomic instability, including large genomic alterations known as structural variants (SVs), which remain relatively underexplored. SVs frequently affect common fragile site (CFS) genes, altering their function. We have recently shown that these alterations can have a significant and tumor-specific biological and clinical impact in colorectal, breast, and lung cancer. Building on these results, we will use WGS, RNA-seq and clinical data from the HMF to investigate the biological and clinical consequences of SVs affecting CFS genes across tumor types and evaluate their potential as novel biomarkers for diagnosis, prognosis, therapy response prediction, and treatment monitoring.

Remond Fijneman, Netherlands Cancer Institute, the Netherlands