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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.

SUBMITTER: Ramos P

PROVIDER: S-EPMC4332808 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature

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

Ramos Pilar P Karnezis Anthony N AN Craig David W DW Sekulic Aleksandar A Russell Megan L ML Hendricks William P D WP Corneveaux Jason J JJ Barrett Michael T MT Shumansky Karey K Yang Yidong Y Shah Sohrab P SP Prentice Leah M LM Marra Marco A MA Kiefer Jeffrey J Zismann Victoria L VL McEachron Troy A TA Salhia Bodour B Prat Jaime J D'Angelo Emanuela E Clarke Blaise A BA Pressey Joseph G JG Farley John H JH Anthony Stephen P SP Roden Richard B S RB Cunliffe Heather E HE Huntsman David G DG Trent Jeffrey M JM

Nature genetics 20140323 5

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]

PMID: 24658001

Dataset Information

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

Publications

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

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