| First Author | Kim KH | Year | 2014 |
| Journal | Cancer Genet | Volume | 207 |
| Issue | 9 | Pages | 365-72 |
| PubMed ID | 24853101 | Mgi Jnum | J:210658 |
| Mgi Id | MGI:5571636 | Doi | 10.1016/j.cancergen.2014.04.004 |
| Citation | Kim KH, et al. (2014) Mechanisms by which SMARCB1 loss drives rhabdoid tumor growth. Cancer Genet 207(9):365-72 |
| abstractText | 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. |
