Ontology highlight
ABSTRACT:
SUBMITTER: Schneppenheim R
PROVIDER: S-EPMC2820190 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
Schneppenheim Reinhard R Frühwald Michael C MC Gesk Stefan S Hasselblatt Martin M Jeibmann Astrid A Kordes Uwe U Kreuz Markus M Leuschner Ivo I Martin Subero Jose Ignacio JI Obser Tobias T Oyen Florian F Vater Inga I Siebert Reiner R
American journal of human genetics 20100204 2
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 S ...[more]