Recurrent SMARCA4 mutations in small cell carcinoma of the ovary

被引：282

作者：

Jelinic, Petar ^{[1
]}

Mueller, Jennifer J. ^{[1
]}

Olveral, Narciso ^{[1
]}

Dao, Fanny ^{[1
]}

Scott, Sasinya N. ^{[2
]}

Shah, Ronak ^{[2
]}

Gao, JianJiong ^{[3
]}

Schultz, Nikolaus ^{[3
]}

Gonen, Mithat ^{[4
]}

Soslow, Robert A. ^{[2
]}

Berger, Michael F. ^{[2
]}

Levine, Douglas A. ^{[1
]}

机构：

[1] Mem Sloan Kettering Canc Ctr, Dept Surg, 1275 York Ave, New York, NY 10021 USA

[2] Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10021 USA

[3] Mem Sloan Kettering Canc Ctr, Computat Biol Program, New York, NY 10021 USA

[4] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY 10021 USA

来源：

NATURE GENETICS | 2014年 / 46卷 / 05期

关键词：

CHROMATIN REMODELING FACTOR; HYPERCALCEMIC TYPE; BRG1; CANCERS;

D O I：

10.1038/ng.2922

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：424 / 426

页数：3

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