Abstract
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare, highly aggressive form of ovarian cancer primarily diagnosed in young women. We identified inactivating biallelic SMARCA4 mutations in 100% of the 12 SCCOHT tumors examined. Protein studies confirmed loss of SMARCA4 expression, suggesting a key role for the SWI/SNF chromatin-remodeling complex in SCCOHT.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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Carcinoma, Small Cell / genetics*
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Chromatin Assembly and Disassembly / genetics
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Computational Biology
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DNA Helicases / genetics*
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DNA, Complementary / genetics
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Female
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Gene Components
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Humans
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Immunohistochemistry
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Molecular Sequence Data
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Mutation / genetics*
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Nuclear Proteins / genetics*
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Ovarian Neoplasms / genetics*
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Sequence Analysis, DNA
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Transcription Factors / genetics*
Substances
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DNA, Complementary
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Nuclear Proteins
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Transcription Factors
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SMARCA4 protein, human
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DNA Helicases