Ontology highlight
ABSTRACT:
SUBMITTER: Kim KH
PROVIDER: S-EPMC4195815 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
Kim Kimberly H KH Roberts Charles W M CW
Cancer genetics 20140413 9
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. Mouse models validated Smarcb1 as a bona fide tumor suppressor, as Smarcb1 inactivation in mice results in 100% of the animals rapidly developing cancer. SMARCB1 was the first subunit of the SWI/SNF complex found mutated in cancer. More recently, at lea ...[more]