Article
Loss of SMARCA4 Leads to Intron Retention and Generation of Tumor-Associated Antigens in Small Cell Carcinoma of the Ovary, Hypercalcemic Type.
Cancer research - 15 Jul 2025
Raupach Elizabeth A, Hegde Apurva M, Garcia-Mansfield Krystine, Alcantara Marice, Rose David L, Halperin Rebecca F, Orlando Krystal A, Lang Jessica D, Sharma Ritin, David-Dirgo Victoria, Facista Salvatore J, Moore Rayvon, Kofman Rochelle, Jensen Zoe N, Zismann Victoria L, Karnezis Anthony N, Wang Yemin, Bennett Lynda B, Whitsett Timothy G, Kortylewski Marcin, Hendricks William P D, Huntsman David G, Rodriguez-Rodriguez Lorna, Weissman Bernard E, Trent Jeffrey M, Pirrotte Patrick
Abstract excerpt
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare, deadly form of ovarian cancer that uniformly harbors mutations in SMARCA4, a member of the SWI/SNF chromatin remodeling complex. SWI/SNF impacts RNA splicing, and dysregulation of splicing can generate immunogenic tumor antigens. In this study, we explored the relationship between SMARCA4 loss and RNA splicing dysregulation. SCCOHT primary...
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