Mutational assessment of newly diagnosed breast cancer using Germline and tumor genomICs

Abstract

Abstract Background :For patients with newly diagnosed breast cancer, real-time identification of pathogenic germline mutations in hereditary breast cancer (HBC) genes can provide important information to inform decisions regarding surgery, medical oncology, radiation oncology and to enable activate risk mitigation strategies for unaffected relatives. The potential to dramatically improve outcomes by identifying HBC gene mutation carriers at diagnosis has been demonstrated in the OlympiA. The current strategy of offering germline testing based on NCCN guidelines or validated scores inherently fails to identify all patients with germline HBC gene mutations with adverse conseque..