DR-205 Identification of somatic variants of unknown significance affecting clinically actionable kinases

Many genomic alterations affecting known driver genes are still classified as variants of unknown significance (VUS). Especially VUS other than missense mutations, such as structural variants, have remained understudied. This is of particular concern for VUS affecting genes that are targetable by clinically approved therapeutics. Thus, there is a great need to perform systematic and rapid classification of VUS to allocate carriers to the appropriate personalized treatment. Here, we will use the WGS data from HMF to identify somatic genomic alterations affecting clinically actionable kinases and classify these into known driver events and VUS. We will then functionally validate VUS of interest in vitro and in vivo using cell lines and mouse modelling.

Daniel Zingg Netherlands Cancer Institute the Netherlands