Gene: SMARCB1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.400 GeneticVariation disease BEFREE Prompt identification of the germline SMARCB1 alteration and the resultant rhabdoid tumor predisposition syndrome can help guide genetic counseling and surveillance in affected family members. 29512865 2018
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.400 GeneticVariation disease BEFREE It is known that germline SMARCB1 mutations may cause rhabdoid tumor predisposition syndrome (RTPS1) or schwannomatosis. 29779243 2018
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.400 GeneticVariation disease BEFREE One-third of patients affected by rhabdoid tumor harbor a germ-line mutation of SMARCB1 defining a rhabdoid tumor predisposition syndrome. 26342593 2016
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.400 GeneticVariation disease BEFREE SMARCB1 (INI1/SNF5/BAF47), a core subunit of the SWI/SNF (BAF) chromatin-remodeling complex, is inactivated in the large majority of rhabdoid tumors, and germline heterozygous SMARCB1 mutations form the basis for rhabdoid predisposition syndrome. 24853101 2014
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.400 GeneticVariation disease BEFREE Germline hSNF5/INI1 mutations are responsible for hereditary cases of rhabdoid tumors (RT) that constitute the rhabdoid predisposition syndrome (RPS). 21208904 2011
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.400 GeneticVariation disease BEFREE Familial cases, described as rhabdoid tumor predisposition syndrome (RTPS), have been linked to heterozygous SMARCB1 germline mutations. 20137775 2010
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.400 GeneticVariation disease BEFREE In conclusion, this study demonstrates for the first time transmission of a germline INI1-mutation in a RTPS family via nonpenetrant males, long-term survival of two members of this family with an AT/RT, and involvement of INI1 in the pathogenesis of myoepithelioma. 18087273 2008
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.400 GeneticVariation disease BEFREE We thus demonstrate a family with rhabdoid tumor predisposition syndrome without linkage to SMARCB1. 16206192 2006
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.400 GeneticVariation disease BEFREE This is supported by the occurence of choroid plexus carcinomas (CPC) in the setting of families with rhabdoid predisposition syndrome (RPS), (19) caused by germ line inactivation of the INI1 gene. 12946029 2003
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.400 GeneticVariation disease BEFREE These findings suggest that the brain tumor was really an AT/RT as a component of RPS secondary to a germline hSNF5/INI1 mutation. 12892231 2003
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.400 GeneticVariation disease BEFREE The rhabdoid predisposition syndrome (RPS) is characterized by pedigrees in which two or more individuals carry germline mutations of the hSNF5/INI1 tumor suppressor gene. 12016529 2003
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.400 GermlineCausalMutation disease ORPHANET Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. 10521299 1999