There has been sufficient amount of evidence published associating the SMARCA4 gene with rhabdoid tumor predisposition syndrome 2 (RTPS) since the gene-disease relationship was first proposed by Schneppenheim et al. (2010). Plenty of case level studies have been performed with RTPS patients that have variants in the SMARCA4 gene. SMARCB1, another subunit of the SWI/SNF chromatin remodeling complexes, also cause RTPS. Tumor cells from patients lacked SMARCA4 immunoreactivity and depletion of SMARCA4 increase cell growth. Reintroduction of SMARCA4 in SMARCA4-null H1299 cells resulted in a dose-dependent suppression of cell growth. SMARCA4 heterozygote mice are predisposed to exencephaly and tumors. All of these evidences suggest a definitive relationship between the SMARCA4 gene and rhabdoid tumor predisposition syndrome 2 (RTPS).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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