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. Clarke; Joseph G. Pressey; John H. Farley; Stephen P. Anthony; Richard B.S. Roden; Heather E. Cunliffe; David G. Huntsman; Jeffrey M. Trent

doi:10.1038/ng.2928

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 journal › Article › peer-review

212 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 language	English (US)
Pages (from-to)	427-429
Number of pages	3
Journal	Nature Genetics
Volume	46
Issue number	5
DOIs	https://doi.org/10.1038/ng.2928
State	Published - Jan 1 2014
Externally published	Yes

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

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. / Ramos, Pilar; Karnezis, Anthony; Craig, David W.; Sekulic, Aleksandar; Russell, Megan L.; Hendricks, William P.D.; Corneveaux, Jason J.; Barrett, Michael T.; Shumansky, Karey; Yang, Yidong; Shah, Sohrab P.; Prentice, Leah M.; Marra, Marco A.; Kiefer, Jeffrey; Zismann, Victoria L.; McEachron, Troy A.; Salhia, Bodour; Prat, Jaime; D'Angelo, Emanuela; Clarke, Blaise A.; Pressey, Joseph G.; Farley, John H.; Anthony, Stephen P.; Roden, Richard B.S.; Cunliffe, Heather E.; Huntsman, David G.; Trent, Jeffrey M.

In: Nature Genetics, Vol. 46, No. 5, 01.01.2014, p. 427-429.

Research output: Contribution to journal › Article › peer-review

Ramos, P, Karnezis, A, Craig, DW, Sekulic, A, Russell, ML, Hendricks, WPD, Corneveaux, JJ, Barrett, MT, Shumansky, K, Yang, Y, Shah, SP, Prentice, LM, Marra, MA, Kiefer, J, Zismann, VL, McEachron, TA, Salhia, B, Prat, J, D'Angelo, E, Clarke, BA, Pressey, JG, Farley, JH, Anthony, SP, Roden, RBS, Cunliffe, HE, Huntsman, DG & Trent, JM 2014, 'Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4', Nature Genetics, vol. 46, no. 5, pp. 427-429. https://doi.org/10.1038/ng.2928

Ramos, Pilar ; Karnezis, Anthony ; Craig, David W. ; Sekulic, Aleksandar ; Russell, Megan L. ; Hendricks, William P.D. ; Corneveaux, Jason J. ; Barrett, Michael T. ; Shumansky, Karey ; Yang, Yidong ; Shah, Sohrab P. ; Prentice, Leah M. ; Marra, Marco A. ; Kiefer, Jeffrey ; Zismann, Victoria L. ; McEachron, Troy A. ; Salhia, Bodour ; Prat, Jaime ; D'Angelo, Emanuela ; Clarke, Blaise A. ; Pressey, Joseph G. ; Farley, John H. ; Anthony, Stephen P. ; Roden, Richard B.S. ; Cunliffe, Heather E. ; Huntsman, David G. ; Trent, Jeffrey M. / Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. In: Nature Genetics. 2014 ; Vol. 46, No. 5. pp. 427-429.

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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.",

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

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