Topic
SMARCB1
About: SMARCB1 is a research topic. Over the lifetime, 255 publications have been published within this topic receiving 18301 citations. The topic is also known as: BAF47 & INI1.
Papers published on a yearly basis
Papers
TL;DR: The observation of bi-allelic alterations of hSNF5/INI1 in MRTs suggests that loss-of-function mutations of h snf5/inI1 contribute to oncogenesis, and the most frequently deleted part of chromosome 22q11.2 is mapped.
Abstract: Malignant rhabdoid tumours (MRTs) are extremely aggressive cancers of early childhood. They can occur in various locations, mainly the kidney, brain and soft tissues. Cytogenetic and molecular analyses have shown that the deletion of region 11.2 of the long arm of chromosome 22 (22q11.2) is a recurrent genetic characteristic of MRTs, indicating that this locus may encode a tumour suppressor gene. Here we map the most frequently deleted part of chromosome 22q11.2 from a panel of 13 MRT cell lines. We observed six homozygous deletions that delineate the smallest region of overlap between the cell lines. This region is found in the hSNF5/INI1 gene, which encodes a member of the chromatin-remodelling SWI/SNF multiprotein complexes. We analysed the sequence of hSNF5/INI1 and found frameshift or nonsense mutations of this gene in six other cell lines. These truncating mutations of one allele were associated with the loss of the other allele. Identical alterations were observed in corresponding primary tumour DNAs but not in matched constitutional DNAs, indicating that they had been acquired somatically. The observation of bi-allelic alterations of hSNF5/INI1 in MRTs suggests that loss-of-function mutations of hSNF5/INI1 contribute to oncogenesis.
1,535 citations
TL;DR: The contributions of SWI/SNF mutations to cancer formation are discussed, their normal functions are examined and opportunities for novel therapeutic interventions for SWI /SNF-mutant cancers are discussed.
Abstract: SWI/SNF chromatin remodelling complexes use the energy of ATP hydrolysis to remodel nucleosomes and to modulate transcription. Growing evidence indicates that these complexes have a widespread role in tumour suppression, as inactivating mutations in several SWI/SNF subunits have recently been identified at a high frequency in a variety of cancers. However, the mechanisms by which mutations in these complexes drive tumorigenesis are unclear. In this Review we discuss the contributions of SWI/SNF mutations to cancer formation, examine their normal functions and discuss opportunities for novel therapeutic interventions for SWI/SNF-mutant cancers.
1,246 citations
Journal Article•
TL;DR: It is suggested that INI1 is a tumor suppressor gene involved in rhabdoid tumors of the brain, kidney, and other extrarenal sites.
Abstract: We examined 18 atypical teratoid and rhabdoid tumors of the brain and 7 renal and 4 extrarenal rhabdoid tumors for mutations in the candidate rhabdoid tumor suppressor gene, INI1. Fifteen tumors had homozygous deletions of one or more exons of the INI1 gene, and the other 14 tumors demonstrated mutations. Germ-line mutations of INI1 were identified in four children, one with an atypical teratoid tumor of the brain and three with renal rhabdoid tumors. These studies suggest that INI1 is a tumor suppressor gene involved in rhabdoid tumors of the brain, kidney, and other extrarenal sites.
864 citations
TL;DR: The SWI/SNF complex is an evolutionarily conserved multi-subunit chromatin-remodelling complex, which uses the energy of ATP hydrolysis to mobilize nucleosomes and remodel chromatin.
Abstract: The SWI/SNF complex is an evolutionarily conserved multi-subunit chromatin-remodelling complex, which uses the energy of ATP hydrolysis to mobilize nucleosomes and remodel chromatin. Increasing evidence supports a role for this complex in cancer development, as several subunits possess intrinsic tumour-suppressor activity or are required for the activity of other tumour-suppressor genes. For example, conditional inactivation of the Snf5 gene resulted in a highly penetrant cancer phenotype in mice. So, what are the links between the SWI/SNF complex and cancer, and what mechanisms might facilitate its involvement in oncogenesis?
615 citations
TL;DR: In conclusion, similar to MRT of infancy, loss of INI1 expression is characteristic of both conventional and proximal-type ES, being detected in >90% of cases.
Abstract: INI1 (hSNF5/SMARCB1), a member of the SWI/SNF chromatin remodeling complex located on chromosome 22q11.2, is deleted or/or mutated in strictly defined malignant rhabdoid tumors (MRT) of infancy. Recent studies suggest that some epithelioid sarcomas (ES) also show inactivation of INI1. However, very
583 citations
Related Topics (5)
Performance Metrics
| Year | Papers |
|---|---|
| 2025 | 21 |
| 2024 | 41 |
| 2023 | 64 |
| 2022 | 110 |
| 2021 | 34 |
| 2020 | 20 |