Recurrent SMARCA4 mutations in small cell carcinoma of the ovary
Menée sur plusieurs cohortes de patientes atteintes d'un carcinome hypercalcémiant à petites cellules de l'ovaire, ces trois études identifient la présence fréquente de mutations somatiques et constitutionnelles du gène SMARCA4
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.
Nature Genetics , résumé, 2013