Recombinant Human SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1), partial

1. This is the first report of SMARCB1-deficient squamous cell carcinoma of pleura. The tumor was highly aggressive and carried a poor prognosis with short survival. PMID: 29625594
2. We report two cases of SMARCB1-deficient tumours located in the meninges and occurring in young adults PMID: 27732747
3. The mosaic loss of INI1 expression is a reliable marker of schwannomatosis. PMID: 28365909
4. the malignancy risk in schwannomatosis is not well defined but may include an increased risk of malignant peripheral nerve sheath tumor in SMARCB1 Imaging protocols are also proposed for SMARCB1 and LZTR1 schwannomatosis and SMARCE1-related meningioma predisposition. PMID: 28620005
5. cribriform neuroepithelial tumor showed large heterozygous 22q deletions (9/10) and SMARCB1 mutations. PMID: 27380723
6. Loss of SMARCB1/INI1 expression is considered to be a hallmark for childhood chordomas. PMID: 28825187
7. Our study, the first comprehensive analysis of RMC, supports a pivotal role for SMARCB1 in its development. PMID: 26433572
8. HRAS mutations were more common in epithelial-myoepithelial carcinomas (EMCAs) with intact PLAG1 and HMGA2. Most EMCAs arose ex pleomorphic adenoma (PA)and the genetic profile of EMCA varies with the absence or presence of preexisting PA and its cytogenetic signature. Progression to higher grade EMCA with intact PLAG1 and HMGA2 correlates with the presence of TP53, FBXW7 mutations, or SMARCB1 deletion. PMID: 29135520
9. Intronic hotspot variant of SMARCB1 was identified in atypical teratoid and rhabdoid tumors of two patients. This cryptic variant was absent in the germline DNA of both patients. PMID: 28722703
10. These highly mobile and invasive cells no longer depend on KRAS signaling and rely on the aberrant activation of mesenchymal programs regulated by the chromatin remodeling factor SMARCB1. Mouse models showed that Smarcb1 ablation could intensify cancer spread; conversely, restoring Smarcb1 slowed tumor growth and restored the cells to their less invasive, epithelial form PMID: 28228393
11. BAF57, BAF60a and SNF5 might act as novel pro-senescence factors in both normal and tumor human skin cells PMID: 28716547
12. Low SNF5 expression is associated with Hepatocellular Carcinoma. PMID: 27111394
13. SMARCB1 is required for widespread BAF complex-mediated activation of enhancers and bivalent promoters. PMID: 28945250
14. Interactions have been indicated between SMARCB1/INI1 protein and key proteins in various pathways related to tumor proliferation and progression. PMID: 28109176
15. The common loss of INI1 expression in rhabdoid and non-rhabdoid tumors will also open new therapeutic doors by developing targeted therapy strategies which may help to consolidate an initial treatment response to conventional radiochemotherapy. PMID: 27246730
16. Biallelic alterations in the INI1 gene were identified in 4 of the 5 cases of atypical teratoid/rhabdoid tumors. Three of the 4 cases harbored 2 different mutations, presumably on different alleles (compound heterozygous mutations), and 1 case of which had a splice-site mutation. PMID: 28338502
17. The epithelioid variant of schwannoma is rare, and loss of SMARCB1/INI1 expression has been observed in a subset of cases. Our aim was to further define the clinicopathologic features and to evaluate SMARCB1/INI1 deficiency in a large cohort of 65 epithelioid schwannomas diagnosed between 2002 and 2015 PMID: 28368924
18. SMARCB1 is required for the integrity of SWI/SNF complexes. PMID: 27941797
19. INI1 loss occurs rarely in colorectal carcinoma, where it is associated with higher grade, larger tumor size, poorer survival, mismatch repair deficiency, and BRAFV600E mutation. PMID: 27184481
20. SWI/SNF complexes lacking SMARCB1 are vital determinants of drug sensitivity, not just to TOP2A-targeted agents, but to the much broader range of cancer drugs effluxed by ABCB1. PMID: 27503929
21. SMARCB1-deficient sinonasal carcinoma represents an emerging poorly differentiated/undifferentiated sinonasal carcinoma. PMID: 28291122
22. Deletions in INI1 gene is associated with Small cell undifferentiated hepatoblastomas. PMID: 27356182
23. Our results confirm the pathogenic involvement of SMARCB1/INI1 in childhood chordoma PMID: 27635948
24. Rpt1 domain of INI1 may participate in ubiquitin recognition or binding with ubiquitin or ubiquitin related proteins. PMID: 27261671
25. Here, the authors first confirmed that SWIRM domain of BAF155 is responsible for its interaction with BAF47 and then narrowed down the SWIRM-binding region in BAF47 to the Repeat 1 (RPT1) domain. PMID: 28438634
26. Our results suggest a general role of miR-206,-381, and 671-5p in SMARCB1 gene silencing of epithelioid sarcomas(ES) , extraskeletal myxoid chondrosarcomas , malignant peripheral nerve sheath tumors and synovial sarcomas . In the future, miR-765 could possibly be a diagnostic tool for ES because of its 97% specificity and 80% sensitivity. PMID: 27223121
27. We conclude that in the context of 22q11-12 regional alterations present in SMARCB1-deleted tumors, simultaneous EWSR1 involvement may be misinterpreted as equivalent to EWSR1 rearrangement. A detailed clinicopathologic correlation and supplementing the EWSR1 FISH assay with complementary methodology is mandatory for correct diagnosis PMID: 27218413
28. SNF5 is indispensable for CRIF1-enhanced p53 activity and its function in the suppression of cell cycle arrest in human cancer cells. PMID: 28235567
29. INI1 re-expression suppresses cell proliferation and MYC-potentiated transformation. PMID: 27267444
30. Interfering INI1 or the INI1-SAP18 interaction leads to the impairment of these processes. PMID: 27558426
31. For the first time, we performed analysis of DNA methylation in SMARCB1/INI1-deficient sinonasal carcinomas, reporting on significantly higher methylation of RASSF1 gene in this neoplasm. PMID: 28069272
32. reporting involvement of the SWI/SNF complex in the dedifferentiation process of a variety of epithelial neoplasms in different organs, including the urinary tract, and association with aggressive clinical course PMID: 27339451
33. Case Report: renal cell carcinoma with Xp11.2 translocation, TFE3 rearrangement and SMARCB1 inactivation in end stage renal disease patient. PMID: 27733182
34. BZ was included in this study as a proteasome inhibitor because loss of SMARCB1 led to increased phosphorylation in rhabdoid tumo.rs Administration of BZ very strongly decreased cell proliferation of all three cell lines being the most cytotoxic compound of all tested substances PMID: 27466490
35. CAPZB is involved in tumor progression in cases of epithelioid sarcoma (EpiS), irrespective of the INI1 expression, and may be a potential therapeutic target. The paradoxical relationship between the tumor suppressor INI1 and the oncoprotein CAPZB in the pathogenesis of EpiS remains to be clarified PMID: 26965049
36. Missense mutation in SMARCB1 gene is associated with Coffin-Siris phenotype, and schwannomatosis. PMID: 26364901
37. we report on a new Italian family with recurrence of SMARCB1 germ-line deletion in two siblings due to gonadal mosaicism PMID: 26342593
38. study describes a rare case of a novel nonsense mutation in SMARCB1 that causes schwannomatosis; first report of a SMARCB1 mutation in a schwannomatosis family exhibiting (unilateral) vestibular schwannoma; results constitute a significant finding given that SMARCB1 mutations can cause both conditions via a four-hit mechanism PMID: 26342709
39. Case Report: SMARCB1-deficient vulvar sarcoma expressing ERG and FLI1. PMID: 26261664
40. Macaca mulatta SMARCB1 showed 23 single nucleotide differences compared to the human ortholog and the amino acid sequence is 100% conserved between human and simian INI1. PMID: 26350979
41. Reduced expression of SMARCB1 immunoreactivity was found to be highly sensitive and specific for synovial sarcoma. PMID: 26520417
42. Mutations in INI1 that cause schwannomatosis target a hitherto unidentified N-terminal winged helix DNA binding domain that is also present in the BAF45a/PHF10 subunit of the SWI/SNF complex. PMID: 26073604
43. Identification of SMARCB1 mutations adds to the growing literature regarding the role of epigenetic control mechanisms in melanoma progression and therapeutic resistance. PMID: 25754356
44. a novel INI1(+) ATRT-like subtype among Taiwanese pediatric patients PMID: 26109171
45. our data unravel differential roles for SWI/SNF subunits in muscle differentiation, with BAF47 playing a dual role both in the permanent cell cycle exit and in the regulation of muscle-specific genes. PMID: 25271443
46. Mutations in SMARCB1 occurred in areas of chromosomal copy loss in chordoma tumor samples. PMID: 24983247
47. in pancreatic undifferentiated rhabdoid carcinomas SMARCB1 loss is restricted to the anaplastic monomorphic subtype PMID: 25103069
48. Myoepithelioma-like tumors of the vulvar region deficient in SMARCB1 constitute a distinct group of tumors. PMID: 26171919
49. We conclude that SMARCB1-deficient vulvar neoplasms chiefly comprise epithelioid sarcoma and myoepithelial carcinoma PMID: 25651469
50. BAF complex gene SMARCB1 is mutated in Coffin-Siris syndrome patients. PMID: 25081545

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HGNC: 11103

OMIM: 162091

KEGG: hsa:6598

STRING: 9606.ENSP00000263121

UniGene: Hs.534350