Disease: Schwannomatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE The INI1/SMARCB1 protein product (INI1), a component of a transcription complex, was recently implicated in the pathogenesis of schwannomas in two members of a single family with familial schwannomatosis. 18422762 2008
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 AlteredExpression disease BEFREE Germ-line SMARCB1 inactivation has been reported in association with rhabdoid tumor, epitheloid sarcoma and familial schwannomatosis, underscoring the importance of accurate mutation screening to ascertain recurrence and transmission risks. 20003390 2009
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE Although the exact oncogenetic mechanism in these schwannomas remains to be elucidated, our findings suggest that INI1 is the predisposing gene in familial schwannomatosis. 17357086 2007
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE Whereas NF2 is caused by mutations of the NF2 gene, schwannomatosis is associated with germline mutations of SMARCB1 or LZTR1. 30006736 2018
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation. 22082606 2012
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE Genetic analysis of blood lymphocyte DNA identified a pathogenic variant in SMARCB1 confirming a diagnosis of schwannomatosis. 31240424 2019
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE Our findings identify LZTR1 as a gene predisposing to an autosomal dominant inherited disorder of multiple schwannomas in ∼80% of 22q-related schwannomatosis cases lacking mutation in SMARCB1. 24362817 2014
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE Exon scanning of all nine SMARCB1 exons in genomic DNA from our cohort of families meeting the criteria for 'definite' or 'presumptive' schwannomatosis previously revealed constitutional alterations in 13 of 19 families (68%). 22949514 2012
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE SMARCB1 or LZTR1 variants were identified in 5/40 (12.5%) and 13/40 (∼32%) patients in the schwannomatosis cohort. 29409008 2018
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE We analyzed the coding region of SMARCB1 by direct sequencing and multiplex ligation-dependent probe amplification (MLPA) in genomic DNA from 19 schwannomatosis kindreds. 18647326 2008
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE Recently, Bacci et al reported a germline SMARCB1 mutation associated with familial schwannomatosis and multiple meningiomas. 20472658 2010
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE This is the first report of a SMARCB1 germline mutation in a family with schwannomatosis characterized by the development of multiple meningiomas. 19582488 2010
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE We conclude that a germline SMARCB1 mutation may predispose to the development of pRCC1, thereby further widening the spectrum of tumors that can develop in the context of schwannomatosis. 26799435 2016
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 AlteredExpression disease BEFREE Herein, we characterize the genome of a schwannomatosis family without constitutional inactivation of the SMARCB1 gene to explore novel genomic alterations predisposing individuals to the familial disease. 24763291 2014
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE The genes that underlie each of the disorders are known: NF1 for neurofibromatosis type 1, NF2 for neurofibromatosis type 2, and INI1/SMARCB1 for schwannomatosis. 23622184 2013
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE However, more recently, inherited SWI/SNF-deficiency has been linked to several benign syndromic tumors including a subset of familial schwannomatosis (linked to SMARCB1) and multiple meningiomas (linked to SMARCE1) as well as others. 29397238 2018
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. 21255467 2011
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE Effectively, LZTR1 is mapped on 22q11.2 and centromeric to SMARCB1 also implicated in the determinism of schwannomatosis and NF2, responsible for neurofibromatosis type 2. 31128261 2019
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE We clinically and genetically characterized two families with schwannomatosis associated with SMARCB1 mutations. 22752724 2012
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE The proportion of cases caused by <i>de novo</i> pathogenic variants is approximately 30% for <i>LZTR1-</i>related schwannomatosis and 10% for <i>SMARCB1-</i>related schwannomatosis.Penetrance is less than 100%. 31329710 2018
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE Recently, SMARCB1 was reported to be a potential predisposing gene for multiple meningiomas in a family with schwannomatosis and multiple meningiomas. 20930055 2011
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE Constitutional mutations of SMARCB1 are responsible of schwannomatosis, an inherited tumor predisposition syndrome, characterized by the development of multiple schwannomas. 29230670 2018
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE In contrast to patients with rhabdoid tumours, which are due to complete loss-of-function SMARCB1 mutations, individuals with schwannomatosis harbour predominantly hypomorphic SMARCB1 mutations which give rise to the synthesis of mutant proteins with residual function that do not cause rhabdoid tumours. 27921248 2017
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors. 24740647 2014
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE The structural and functional abnormalities of proteins caused by the mutations of the SMARCB1 gene may be the molecular basis for the pathogenesis of schwannomatosis in this family. 30576819 2019