Article
XPO1 R749Q Mutations Co-occur with POLE Mutations in Cancer and Can Be Targeted to Overcome Chemoresistance.
Cancer research - 2 Sept 2025
Totiger Tulasigeri M, Chiraphapphaiboon Wannasiri, Baca Yasmine, Chaudhry Sana, Notti Ryan Q, Montoya Skye, Chojnacka Monika, Gaidosh Gabriel, Afaghani Jumana, Affer Maurizio, Armstrong Christopher, Kavanaugh Paul M, Karaca Efe, Zabroski Jenna, Lewis Michael, Maye Alyssa, Jahn Jacob, Soni Rajesh K, Bilbao Daniel, Walker Phil, Elliott Andrew, Lou Emil, El-Deiry Wafik S, Rodriguez Jose Antonio, Nguyen Hai Dang, Taylor Justin
Abstract excerpt
Exportin-1 (XPO1) is a nuclear export receptor that is essential for cell survival. Previous genomic analyses have identified recurrent XPO1 hotspot mutations in cancer. In this study, we conducted a large-scale genomic analysis of 217,570 patients with cancer to identify and characterize XPO1 variants from real-world patient tumors. XPO1 harbored an R749Q mutation in various solid tumors, with a clear enrichment...
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