| First Author | Schneppenheim R | Year | 2010 |
| Journal | Am J Hum Genet | Volume | 86 |
| Issue | 2 | Pages | 279-84 |
| PubMed ID | 20137775 | Mgi Jnum | J:158637 |
| Mgi Id | MGI:4439254 | Doi | 10.1016/j.ajhg.2010.01.013 |
| Citation | Schneppenheim R, et al. (2010) Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet 86(2):279-84 |
| abstractText | Rhabdoid tumors of early infancy are highly aggressive with consequent poor prognosis. Most cases show inactivation of the SMARCB1 (also known as INI1 and hSNF5) tumor suppressor, a core member of the ATP-dependent SWI/SNF chromatin-remodeling complex. Familial cases, described as rhabdoid tumor predisposition syndrome (RTPS), have been linked to heterozygous SMARCB1 germline mutations. We identified inactivation of another member of the SWI/SNF chromatin-remodeling complex, its ATPase subunit SMARCA4 (also known as BRG1), due to a SMARCA4/BRG1 germline mutation and loss of heterozygosity by uniparental disomy in the tumor cells of two sisters with rhabdoid tumors lacking SMARCB1 mutations. SMARCA4 is thus a second member of the SWI/SNF complex involved in cancer predisposition. Its general involvement in other tumor entities remains to be established. |
