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©2017 AACR . SMARCB1 is a core subunit proteins of the SWI/SNF chromatin remodeling complex, which interact with transcription factors at promoters and enhancers to modulate gene expression. Renal medullary carcinomas have been found to be deficient in SMARCB1 (BAF47) due to mutations. The chromatin remodelling component SMARCB1/INI1 influences the metastatic behavior of colorectal cancer through a gene signature mapping to chromosome 22, J Transl Med 11 (2013), 297. [12] M. Pancione, A. Di Blasi, L. Sabatino, A. Fucci, A.M. Dalena, N. Palombi et al., Expression of SMARCB1 in cancer tissue.
SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas. Modena P(1), Lualdi E, Facchinetti F, Galli L, Teixeira MR, Pilotti S, Sozzi G. 2015-09-15 · 1. Mol Cancer. 2015 Sep 15;14:167. doi: 10.1186/s12943-015-0439-5. Phosphoproteomic analysis reveals Smarcb1 dependent EGFR signaling in Malignant Rhabdoid tumor cells. 2020-12-09 · When genetic aberrations in the SMARCB1/INI1 gene occur, the result can cause complete loss of expression, decreased expression, and mosaic expression.
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The cancer tissue page shows antibody staining of the protein in 20 different cancers.
(18)Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany. (19)Swabian Childrens' Cancer Center, Childrens' Hospital Augsburg and EU-RHAB Registry, Augsburg, Germany. Rhabdoid phenotype and loss of SMARCB1 expression in a brain tumor are characteristic features of atypical teratoid/rhabdoid tumors
2019-05-01 · SMARCB1 encodes the SNF5 subunit of the SWI/SNF chromatin remodeler. SNF5 also interacts with the oncoprotein transcription factor MYC and is proposed to stimulate MYC activity. The concept that
20587 Ensembl ENSG00000099956 ENSG00000275837 ENSMUSG00000000902 UniProt Q12824 Q9Z0H3 RefSeq (mRNA) NM_001007468 NM_003073 NM_001317946 NM_001362877 NM_001161853 NM_011418 RefSeq (protein) NP_001007469 NP_001304875 NP_003064 NP_001349806 NP_001155325 NP_035548 Location (UCSC) Chr 22: 23.79 – 23.84 Mb Chr 10: 75.9 – 75.92 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse SWI/SNF
Expression of SMARCB1 (BAF47, hSNFS, Ini1, PPP1R144, RDT, Sfh1p, SNF5L1, Snr1) in cancer tissue. The cancer tissue page shows antibody staining of the protein in 20 different cancers.
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INTRODUCTION.
Background Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant brain tumor that almost exclusively develops in young children. AT/RT belongs to the embryonal brain tumor group, comprising primitive tumors recapitulating the early development of the central nervous system during embryogenesis.
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doi: 10.1111/cas.13173. For SMARCB1/INI1, the mutation can’t be drugged because the gene is missing. This story is common across pediatric cancers, where the few recurrent mutations present in a cancer may not be targetable.