Recurrent SMARCA4 mutations in small cell carcinoma of the ovary
P Jelinic, JJ Mueller, N Olvera, F Dao, SN Scott… - Nature …, 2014 - nature.com
Nature genetics, 2014•nature.com
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.
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.
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.
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