LAUSR

Germline mutations in BRCA1 or BRCA 2 can lead to increased genomic instability and mutational burden in mutation-associated breast and ovarian cancer. Given the association of tumor neoepitope load and clinical response to immune checkpoint therapy, we used whole exome sequencing (WES) to predict missense mutational burden and potential neoepitope expression in 34 breast and 71 ovarian tumors with germline BRCA1/2 mutations (combining Penn and TCGA cohorts). Analysis of WES data found that tumors from patients with BRCA1/2 mutations had significantly higher mutational burden than non-BRCA1/2 tumors (p Citation Format: Adam Kraya, Kara N. Maxwell, Brandon M. Wenz, Bradley Wubbenhorst, Daniel De Sloover, Nicole Lunceford, Amanda Barrett, Jennifer D. Morrissette, Michael Feldman, Robert H. Vonderheide, Susan M. Domcheck, Katherine L. Nathanson. Analysis of tumor immunogenicity in germline BRCA1/2 mutation associated breast and ovarian cancers. [abstract]. In: Proceedings of the AACR Special Conference on Tumor Immunology and Immunotherapy; 2016 Oct 20-23; Boston, MA. Philadelphia (PA): AACR; Cancer Immunol Res 2017;5(3 Suppl):Abstract nr A12.