Article
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.
Cancer genetics - 1 Sept 2014
Smith Miriam J, Wallace Andrew J, Bowers Naomi L, Eaton Helen, Evans D Gareth R
Abstract excerpt
Mutations in the SMARCB1 gene are involved in several human tumor-predisposing syndromes. They were established as an underlying cause of the tumor suppressor syndrome schwannomatosis in 2008. There is a much higher rate of mutation detection in familial disease than in sporadic disease. We have performed extensive genetic testing on a cohort of familial and sporadic patients who fulfilled clinical diagnostic...
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