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12 p, 3.2 MB 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 / Karnezis, Anthony N. (University of British Columbia. Department of Pathology and Laboratory Medicine) ; Wang, Yemin (University of British Columbia. Department of Pathology and Laboratory Medicine) ; Ramos, Pilar (Translational Genomics Research Institute) ; Hendricks, William P. D. (Translational Genomics Research Institute) ; Oliva, Esther (Massachusetts General Hospital (Boston)) ; D'Angelo, Emanuela (Institut d'Investigació Biomèdica Sant Pau) ; Prat, Jaime (Institut d'Investigació Biomèdica Sant Pau) ; Nucci, Marisa R. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Nielsen, Torsten O. (University of British Columbia. Department of Pathology and Laboratory Medicine) ; Chow, Christine (University of British Columbia. Genetic Pathology Evaluation Centre) ; Leung, Samuel (University of British Columbia. Genetic Pathology Evaluation Centre) ; Kommoss, Friedrich (Synlab MVZ Pathologie) ; Kommoss, Stefan (University Hospital of Tübingen (Alemanya)) ; Silva, Annacarolina (Harvard Medical School. The James Homer Wright Pathology Laboratories) ; Ronnett, Brigitte M. (The Johns Hopkins Hospital. Department of Pathology) ; Rabban, Joseph T. (University of California San Francisco. Department of Anatomic Pathology) ; Bowtell, David D. (Peter MacCallum Cancer Centre) ; Weissman, Bernard E. (University of North Carolina. Department of Pathology and Laboratory Medicine) ; Trent, Jeffrey M. (Translational Genomics Research Institute) ; Gilks, C. Blake (University of British Columbia. Department of Pathology and Laboratory Medicine) ; Huntsman, David G. (University of British Columbia. Department of Pathology and Laboratory Medicine) ; Universitat Autònoma de Barcelona
Small cell carcinoma of the ovary, hypercalcaemic type () is a lethal and sometimes familial ovarian tumour of young women and children. We and others recently discovered that over 90% of harbour inactivating mutations in the chromatin remodelling gene with concomitant loss of its encoded protein (), one of two mutually exclusive of the / chromatin remodelling complex. [...]
2015 - 10.1002/path.4633
The Journal of Pathology, Vol. 238, Issue 3 (december 2015) , p. 389-400  
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