Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-05

AUTHORS

Pilar Ramos, Anthony N Karnezis, David W Craig, Aleksandar Sekulic, Megan L Russell, William P D Hendricks, Jason J Corneveaux, Michael T Barrett, Karey Shumansky, Yidong Yang, Sohrab P Shah, Leah M Prentice, Marco A Marra, Jeffrey Kiefer, Victoria L Zismann, Troy A McEachron, Bodour Salhia, Jaime Prat, Emanuela D'Angelo, Blaise A Clarke, Joseph G Pressey, John H Farley, Stephen P Anthony, Richard B S Roden, Heather E Cunliffe, David G Huntsman, Jeffrey M Trent

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. More... »

PAGES

427-429

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.2928

DOI

http://dx.doi.org/10.1038/ng.2928

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1045914848

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24658001


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