Unknown

Dataset Information

0

Mechanisms by which SMARCB1 loss drives rhabdoid tumor growth.


ABSTRACT: 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 least seven other genes encoding SWI/SNF subunits have been identified as recurrently mutated in cancer. Collectively, 20% of all human cancers contain a SWI/SNF mutation. Consequently, investigation of the mechanisms by which SMARCB1 mutation causes cancer has relevance not only for rhabdoid tumors, but also potentially for the wide variety of SWI/SNF mutant cancers. Here we discuss normal functions of SMARCB1 and the SWI/SNF complex as well as mechanistic and potentially therapeutic insights that have emerged.

SUBMITTER: Kim KH 

PROVIDER: S-EPMC4195815 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature

altmetric image

Publications

Mechanisms by which SMARCB1 loss drives rhabdoid tumor growth.

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]

Similar Datasets

| S-EPMC10123523 | biostudies-literature
2023-10-19 | GSE218385 | GEO
2023-10-20 | GSE218115 | GEO
2023-10-20 | GSE218110 | GEO
2023-10-20 | GSE218114 | GEO
2023-10-20 | GSE218113 | GEO
2023-10-20 | GSE218112 | GEO
2023-10-20 | GSE218111 | GEO
| S-EPMC5722562 | biostudies-literature
| S-EPMC5563506 | biostudies-literature