They identified deleterious germline variants (DGVs) in 56% of patients in their discover cohort and 48% of patients in the TCGA validation cohort, including variants in DDR genes (BRCA2, FANCA, POLQ, XPA). The authors further identified frequent “second hit” bi-allelic somatic inactivation through mutations in the remaining wildtype allele. These data have important diagnostic implications through liquid biopsy, and further investigation is warranted to study these DGVs in prognostic and predictive settings.
Presented by: Bishoy M. Faltas, MD, Director of Bladder Cancer Research, Englander Institute for Precision Medicine, Weill Cornell Medicine
Written by: Dr. Patrick Hensley, Urologic Oncology Fellow at MD Anderson Cancer Center, Twitter: @pjhensley11, with Ashish Kamat, MD, MBBS, President of The International Bladder Cancer Network (IBCN), The International Bladder Cancer Group (IBCG), and Professor of the Department of Urology, Division of Surgery, The University of Texas MD Anderson Cancer Center, Houston, Texas, Twitter: @UroDocAsh, at the International Bladder Cancer Network (IBCN) Annual Meeting, #IBCN2020, October 17, 2020.