- Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.
Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.
Nature genetics (2014-03-25)
Petar Jelinic, Jennifer J Mueller, Narciso Olvera, Fanny Dao, Sasinya N Scott, Ronak Shah, JianJiong Gao, Nikolaus Schultz, Mithat Gonen, Robert A Soslow, Michael F Berger, Douglas A Levine
PMID24658004
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.
MATERIALS