SYNE1 Mutation Is Associated with Increased Tumor Mutation Burden and Immune Cell Infiltration in Ovarian Cancer

, a nuclear envelope protein critical for cellular structure and signaling, is downregulated in numerous malignancies. alterations are found in 10% of gynecologic malignancies and 5% of epithelial ovarian cancers. Previous studies demonstrated an association between mutation, increased tumor mutation burden (TMB), and immunotherapy response. This study evaluates the mutation frequency, association with TMB, and downstream effects of mutation in ovarian cancer. Genetic information, including whole-exome sequencing, RNA analysis, and somatic tumor testing, was obtained for consenting ovarian cancer patients at an academic medical center. Mutation frequencies were compared between the institutional cohort and The Cancer Genome Atlas (TCGA). Bioinformatics analyses were performed. In our cohort of 50 patients, 16 had a mutation, and 15 had recurrent disease. Median TMB for mutated patients was 25 compared to 7 for wild-type patients ( < 0.0001). Compared to the TCGA cohort, our cohort had higher mutation rates (32% vs. 6%, < 0.001). Gene expression related to immune cell trafficking, inflammatory response, and immune response (z > 2.0) was significantly increased in mutated patients. mutation is associated with increased TMB and immune cell infiltration in ovarian cancer and may serve as an additional biomarker for immunotherapy response.