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

Pilar Ramos, Anthony 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. ClarkeJoseph G. Pressey, John H. Farley, Stephen P. Anthony, Richard B.S. Roden, Heather E. Cunliffe, David G. Huntsman, Jeffrey M. Trent

Research output: Contribution to journalArticle

157 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)427-429
Number of pages3
JournalNature Genetics
Volume46
Issue number5
DOIs
StatePublished - Jan 1 2014
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Ramos, P., Karnezis, A., Craig, D. W., Sekulic, A., Russell, M. L., Hendricks, W. P. D., Corneveaux, J. J., Barrett, M. T., Shumansky, K., Yang, Y., Shah, S. P., Prentice, L. M., Marra, M. A., Kiefer, J., Zismann, V. L., McEachron, T. A., Salhia, B., Prat, J., D'Angelo, E., ... Trent, J. M. (2014). Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. Nature Genetics, 46(5), 427-429. https://doi.org/10.1038/ng.2928