Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study

We present findings of a cancer multidisciplinary-team (MDT) coordinated mainstreaming pathway unselected 5-panel germline BRCA1/BRCA2/RAD51C/RAD51D/BRIP1 and parallel somatic BRCA1/BRCA2 testing in all women with epithelial-OC highlight the discordance between strategies across two centres. Patients were counselled consented by MDT member. The uptake multi-gene was 97.7%. Counselling clinical-nurse-specialist more frequently needed >1 consultation (53.6% (30/56)) compared to medical (15.0% (21/137)) or surgical oncologist (15.3% (17/110)) (p < 0.001). median age 54 (IQR = 51–62) years pathogenic-variant (PV) versus 61 51–71) BRCA wild-type There no significant difference distribution PVs ethnicity, stage, surgery timing resection status. A total 15.5% 7.8% identified. 2.3% patients had RAD51C/RAD51D/BRIP1 PVs. 11% large-genomic-rearrangements missed testing. 20% are first BRCA-testing approach 55.6% family history ascertainment. failure rate is higher (23%) for undergoing diagnostic biopsies. Our favour prospective panel as clinically efficient strategy maximise variant identification. UK Genomics test-directory criteria should be expanded include OC genes.