There is abundant published evidence associating the SMARCB1 gene with rhabdoid tumor predisposition syndrome 1 (RTPS) since the gene-disease relationship was first proposed by Sevenet et al. (1999). Multiple case level studies have been performed with RTPS patients that have variants in the SMARCB1 gene. SMARCA4, another subunit of the SWI/SNF chromatin remodeling complexes, also cause RTPS. SMARCB1 was absent from neoplastic cells of all tested AT/RTs of RTPS patients in immunohistochemical analysis. Multiple Smarcb1 haploinsufficiency mice models indicate the development of malignant rhabdoid tumors in mice. All of these types of evidence are consistent with a definitive relationship between the SMARCB1 gene and rhabdoid tumor predisposition syndrome 1 (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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