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

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 patients 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.

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Study ID Study Title Study Type
EGAS00001000714 Other
ID File Type Size Located in Quality Control
EGAF00000508958 bam 206.0 GB
EGAF00000508959 bam 17.3 GB
EGAF00000508960 bam 9.0 GB
EGAF00000508961 bam 16.9 GB
EGAF00000508962 bam 23.2 GB
EGAF00000508963 bam 207.5 GB
EGAF00000508964 bam 24.2 GB
EGAF00000508965 bam 211.3 GB
EGAF00000508966 bam 225.2 GB
EGAF00000508967 bam 212.9 GB
EGAF00000508968 bam 15.1 GB
EGAF00000508969 bam 14.4 GB
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