@article{a23591fe951b4649944b52cdcb08e0e2,
title = "Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4",
abstract = "Small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is an extremely rare, aggressive cancer affecting children and young women. We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors. These data implicate SMARCA4 in SCCOHT oncogenesis.",
author = "Pilar Ramos and Karnezis, {Anthony N.} and Craig, {David W.} and Aleksandar Sekulic and Russell, {Megan L.} and Hendricks, {William P.D.} and Corneveaux, {Jason J.} and Barrett, {Michael T.} and Karey Shumansky and Yidong Yang and Shah, {Sohrab P.} and Prentice, {Leah M.} and Marra, {Marco A.} and Jeffrey Kiefer and Zismann, {Victoria L.} and McEachron, {Troy A.} and Bodour Salhia and Jaime Prat and Emanuela D'Angelo and Clarke, {Blaise A.} and Pressey, {Joseph G.} and Farley, {John H.} and Anthony, {Stephen P.} and Roden, {Richard B.S.} and Cunliffe, {Heather E.} and Huntsman, {David G.} and Trent, {Jeffrey M.}",
note = "Funding Information: We particularly thank the families and patients who joined this institutional review board (IRB)-approved study for their critical contributions. We also thank the faculty and staff at TGen from the Macromolecular Analysis & Processing Center (G. Hostetter and J. LoBello) and the Office of Research Compliance & Quality Management (L. Nordstrom, S. Althoff and S. Buchholtz); the Children{\textquoteright}s Oncology Group for their samples; and B. Vanderhyden (University of Ottawa and Ottawa Hospital Research Institute) for BIN-67 cells. This study was supported by grants from the Marsha Rivkin Center for Ovarian Cancer Research, the Anne Rita Monahan Foundation, the Ovarian Cancer Alliance of Arizona, the Small Cell Ovarian Cancer Foundation and philanthropic support to the TGen Foundation. Further support was provided to A.N.K. and D.G.H. by the Terry Fox Research Initiative New Frontiers Program in Cancer and to A.N.K. by the Molecular Oncologic Pathology Fellowship of the Canadian Institutes of Health Research.",
year = "2014",
month = may,
doi = "10.1038/ng.2928",
language = "English (US)",
volume = "46",
pages = "427--429",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "5",
}