Article
Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
Nature communications - 3 Nov 2020
Fernando Tharu M, Piskol Robert, Bainer Russell, Sokol Ethan S, Trabucco Sally E, Zhang Qing, Trinh Huong, Maund Sophia, Kschonsak Marc, Chaudhuri Subhra, Modrusan Zora, Januario Thomas, Yauch Robert L
Abstract excerpt
Genomic studies performed in cancer patients and tumor-derived cell lines have identified a high frequency of alterations in components of the mammalian switch/sucrose non-fermentable (mSWI/SNF or BAF) chromatin remodeling complex, including its core catalytic subunit, SMARCA4. Cells exhibiting loss of SMARCA4 rely on its paralog, SMARCA2, making SMARCA2 an attractive therapeutic target. Here we report the...
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