%0 Journal Article %1 Schneppenheim.2010 %A Schneppenheim, Reinhard %A Frühwald, Michael C. %A Gesk, Stefan %A Hasselblatt, Martin %A Jeibmann, Astrid %A Kordes, Uwe %A Kreuz, Markus %A Leuschner, Ivo %A Martin Subero, Jose Ignacio, %A Obser, Tobias %A Oyen, Florian %A Vater, Inga %A Siebert, Reiner %D 2010 %J American journal of human genetics %K Base_Sequence Codon,_Nonsense/genetics DNA_Helicases/chemistry/genetics DNA_Mutational_Analysis Fatal_Outcome Female Gene_Silencing Genetic_Predisposition_to_Disease Germ-Line_Mutation/genetics Humans Immunohistochemistry Infant Magnetic_Resonance_Imaging Male Molecular_Sequence_Data Nuclear_Proteins/chemistry/genetics Pedigree Rhabdoid_Tumor/genetics/pathology Syndrome Transcription_Factors/chemistry/genetics %N 2 %P 279–284 %T Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome %V 86 %X 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.

@article{Schneppenheim.2010, abstract = {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.}, added-at = {2014-10-14T15:28:10.000+0200}, author = {Schneppenheim, Reinhard and Frühwald, Michael C. and Gesk, Stefan and Hasselblatt, Martin and Jeibmann, Astrid and Kordes, Uwe and Kreuz, Markus and Leuschner, Ivo and {Martin Subero, Jose Ignacio} and Obser, Tobias and Oyen, Florian and Vater, Inga and Siebert, Reiner}, biburl = {https://www.bibsonomy.org/bibtex/26332e028f5acee1206241a50f35fd9a7/drtester}, interhash = {8de52f2abd70e475679ac61c8f420109}, intrahash = {6332e028f5acee1206241a50f35fd9a7}, journal = {American journal of human genetics}, keywords = {Base_Sequence Codon,_Nonsense/genetics DNA_Helicases/chemistry/genetics DNA_Mutational_Analysis Fatal_Outcome Female Gene_Silencing Genetic_Predisposition_to_Disease Germ-Line_Mutation/genetics Humans Immunohistochemistry Infant Magnetic_Resonance_Imaging Male Molecular_Sequence_Data Nuclear_Proteins/chemistry/genetics Pedigree Rhabdoid_Tumor/genetics/pathology Syndrome Transcription_Factors/chemistry/genetics}, number = 2, pages = {279–284}, timestamp = {2014-10-14T15:28:10.000+0200}, title = {Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome}, volume = 86, year = 2010 }