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ArtikelRecurrent SMARCA4 mutations in small cell carcinoma of the ovary  
Oleh: Jelinic, Petar ; Mueller, Jennifer J ; Olvera, Narciso ; Dao, Fanny ; Scott, Sasinya N
Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Nature Genetics vol. 46 no. 05 (May 2014), page 424 - 426.
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Isi artikelSmall 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.
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