Article
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
The Journal of pathology - 1 Sept 2017
Errichiello Edoardo, Mustafa Noor, Vetro Annalisa, Notarangelo Lucia Dora, de Jonge Hugo, Rinaldi Berardo, Vergani Debora, Giglio Sabrina Rita, Morbini Patrizia, Zuffardi Orsetta
Abstract excerpt
SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin-Siris syndrome (CSS) patients and in almost all small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT) tumours. Missense mutations with gain-of-function or dominant-negative effects are associated with CSS, whereas inactivating mutations, leading to loss of SMARCA4 expression, have been exclusively found in SCCOHT. We applied whole-exome...
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