Article
Dual loss of the SWI/SNF complex ATPases SMARCA4/BRG1 and SMARCA2/BRM is highly sensitive and specific for small cell carcinoma of the ovary, hypercalcaemic type.
The Journal of pathology - 1 Feb 2016
Karnezis Anthony N, Wang Yemin, Ramos Pilar, Hendricks William Pd, Oliva Esther, D'Angelo Emanuela, Prat Jaime, Nucci Marisa R, Nielsen Torsten O, Chow Christine, Leung Samuel, Kommoss Friedrich, Kommoss Stefan, Silva Annacarolina, Ronnett Brigitte M, Rabban Joseph T, Bowtell David D, Weissman Bernard E, Trent Jeffrey M, Gilks C Blake, Huntsman David G
Abstract excerpt
Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT) is a lethal and sometimes familial ovarian tumour of young women and children. We and others recently discovered that over 90% of SCCOHTs harbour inactivating mutations in the chromatin remodelling gene SMARCA4 with concomitant loss of its encoded protein SMARCA4 (BRG1), one of two mutually exclusive ATPases of the SWI/SNF chromatin remodelling...
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