There is abundant published evidence associating the SUFU gene with medulloblastoma since the gene-disease relationship was first proposed by Taylor et al. (2002). Multiple case level studies have been performed with medulloblastoma patients that have variants in the SUFU gene. PTCH1 and PTCH2 are also related to dominantly inherited NBCCS and medulloblastoma. The effect of medulloblastoma-derived mutant of SUFU on Hedgehog signaling activity had been shown in cell assays. Multiple SUFU deficient mouse models have been established to show consistent phenotypes with medulloblastoma patients. Sufu+/- mice develop a Gorlin-like skin phenotype. Patients with SUFU mutations can exhibit medulloblastoma and features of Gorlin syndrome. In conjunction with p53 loss, Sufu+/- mice developed tumors including medulloblastoma and rhabdomyosarcoma. All of these types of evidence are consistent with a definitive relationship between the SUFU gene and medulloblastoma.
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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