DR-523 Precise and Cost-Effective Identification of Homologous Recombination Deficiency

Patients whose cancer cells have defective DNA repair, known as the homologous recombination deficiency (HRD) phenotype, benefit from treatment with PARP inhibitors. This is typical for cancers with BRCA mutations. However, cancer cells can have HRD without BRCA mutations. HRD is detectable with whole-genome sequencing; however, this is often unfeasible for samples with low cancer DNA fraction or low technical quality, typical in clinical routine. We aim to analyse the Hartwig whole-genome sequencing data to learn how to adapt assays, applied in clinical trials and routine at Karolinska University Hospital, for robust HRD detection.

Johan Lindberg, Karolinska Institutet, Sweden