卵巢小细胞癌中反复出现的 SMARCA4 突变。
Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.
机构信息
1] Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York, USA. [2].
Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
出版信息
Nat Genet. 2014 May;46(5):424-6. doi: 10.1038/ng.2922. Epub 2014 Mar 23.
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.
摘要
卵巢小细胞癌，钙调蛋白类型（SCCOHT）是一种罕见的、高度侵袭性的卵巢癌形式，主要在年轻女性中诊断。我们在 12 个 SCCOHT 肿瘤中发现了 100%的 SMARCA4 双等位基因突变失活。蛋白研究证实了 SMARCA4 表达的缺失，表明 SWI/SNF 染色质重塑复合物在 SCCOHT 中起着关键作用。
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