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  • Title: SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
    Author: Santen GW, Kriek M, van Attikum H.
    Journal: Epigenetics; 2012 Nov; 7(11):1219-24. PubMed ID: 23010866.
    Abstract:
    Heterozygous germline mutations in components of switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complexes were recently identified in patients with non-syndromic intellectual disability, Coffin-Siris syndrome and Nicolaides-Baraitser syndrome. The common denominator of the phenotype of these patients is severe intellectual disability and speech delay. Somatic and germline mutations in SWI/SNF components were previously implicated in tumor development. This raises the question whether patients with intellectual disability caused by SWI/SNF mutations in the germline are exposed to an increased risk of developing cancer. Here we compare the mutational spectrum of SWI/SNF components in intellectual disability syndromes and cancer, and discuss the implications of the results of this comparison for the patients.
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