2022年6月1日 · SMARCB1 (SWI / SNF related, matrix associated, actin dependent regulator of chromatin subfamily B member 1), INI1 (integrase interactor 1), BAF47, hSNF5

SWI/SNF -related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the SMARCB1 gene. [5][6][7] The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively.

Mutations, deletions, and other somatic alterations in the tumor suppressor gene INI1 (hSNF5; SMARCB1), which encodes a subunit of the SWI/SNF chromatin remodeling complex, were first described in the malignant rhabdoid tumor of infancy.

SMARCB1/INI1 is one of the core subunit proteins of the ATP‐dependent SWI/SNF chromatin remodeling complex, and is identified as a potent and bona fide tumor suppressor. Interactions have been demonstrated between SMARCB1/INI1 and key proteins in ...

2020年6月30日 · The SMARCB1/INI1 gene was first discovered in the mid-1990s, and since then it has been revealed that loss of function mutations in this gene result in aggressive rhabdoid tumors. Recently, the term “rhabdoid tumor” has become synonymous with decreased SMARCB1/INI1 expression.

Integrase interactor 1 (INI1) is a member of the SWI/SNF (SWItch/sucrose non-fermentable) chromatin remodeling complex, which play an important role in regulation of transcription by modulating access of protein to DNA. Loss of function of these complexes has been implicated in human cancers.

SMARCB1 (INI-1)-deficient sinonasal carcinoma is a rare but locally aggressive malignancy of the nasal cavity and paranasal sinuses, representing only about 1% of all head and neck malignancies [1, 2]. SMARCB1 (INI1) is a core subunit of the SWItch/sucrose non-fermentable (SWI/SNF) complex mapped to chromosomal region 22q11.23.

Over 90% of tumours have lost INI1 expression, leading to oncogenic dependence on the transcriptional repressor EZH2. In this study, we report the clinical activity and safety of tazemetostat, an oral selective EZH2 inhibitor, in patients with epithelioid sarcoma.

2023年12月27日 · SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1, commonly abbreviated SMARCB1, is a diagnostic immunostain, because nuclear staining is lost in some specific types of cancer shown below. It is also known as INI1, INI-1 and BAF47. Epithelioid sarcoma. [1] Extrarenal malignant rhabdoid tumour. [2]

2022年7月21日 · In a retrospective analysis of 1479 intrathoracic malignant neoplasms using immunohistochemistry for INI1 (SMARCB1) on tissue micro arrays (TMA) and a search through our hospital sarcoma...