@article{f91902a135db47c880a890aed71e5f65,
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 Anthony Karnezis 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.}",
year = "2014",
month = jan,
day = "1",
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",
}