Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.

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.

SUBMITTER: Jelinic P 

PROVIDER: S-EPMC5699446 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature