Unknown

Dataset Information

0

Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.


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.

SUBMITTER: Schneppenheim R 

PROVIDER: S-EPMC2820190 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature

altmetric image

Publications

Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

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]

Similar Datasets

| S-EPMC3075385 | biostudies-literature
| S-EPMC6752675 | biostudies-literature
| S-EPMC4233181 | biostudies-literature
| S-EPMC5464371 | biostudies-literature
| S-EPMC2361463 | biostudies-literature
| S-EPMC7847432 | biostudies-literature
| S-EPMC10944448 | biostudies-literature
| S-EPMC8421801 | biostudies-literature
| S-EPMC8076247 | biostudies-literature
| S-EPMC8033741 | biostudies-literature