SMARCB1 antibody - N-terminal region (ARP34171_P050)
- Known as:
- SMARCB1 (anti-) - N-terminal region (ARP34171_P050)
- Catalog number:
- arp34171_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- SMARCB1 antibody - N-terminal region (ARP34171_P050)
Related genes to: SMARCB1 antibody - N-terminal region (ARP34171_P050)
- Gene:
- SMARCB1 NIH gene
- Name:
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
- Previous symbol:
- SNF5L1
- Synonyms:
- BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144, SNF5
- Chromosome:
- 22q11.23
- Locus Type:
- gene with protein product
- Date approved:
- 1995-08-21
- Date modifiied:
- 2019-04-23
Related products to: SMARCB1 antibody - N-terminal region (ARP34171_P050)
Related articles to: SMARCB1 antibody - N-terminal region (ARP34171_P050)
- Rhabdoid tumors (RT) are among the most aggressive pediatric malignancies, characterized by early onset in life, loss of SWI/SNF complex members (SMARCB1 or SMARCA4), and dismal outcomes despite multimodal therapy. Refractory and relapsing RT remain almost uniformly fatal, and targeted or immune-based approaches have yet to demonstrate clinical benefit. - Source: PubMed
Publication date: 2026/06/02
Reitsam Nic GFincke Victoria EHernandez Ramirez Maria DanielaMucha MarlenaSipos EvaLisa SiebenhüterEnke Johanna SLossner MauriceVokuhl ChristianLapa ConstantinHasselblatt MartinFrühwald MichaelMärkl BrunoJohann Pascal D - Germline variants in cancer predisposition genes have been increasingly recognized in pediatric cancers. However, their spectrum in East Asian children with central nervous system (CNS) tumors remains insufficiently defined. This study investigated the prevalence and clinical significance of pathogenic or likely pathogenic (P/LP) germline mutations in Korean children, adolescents, and young adults (AYAs) with CNS tumors. We performed targeted next-generation sequencing of 358 cancer-associated genes using peripheral blood DNA from 108 patients. Germline variants were classified according to ACMG/AMP guidelines and curated using ClinVar and relevant literature. Among 108 patients, 17 (15.7%) carried P/LP germline variants. The median age at diagnosis was 7.7 years (range, 1.0-24.0), and 64.7% were male. P/LP variants were most frequent in other CNS tumors (4/11, 36.4%), including 2 glioneuronal tumors, 1 schwannoma, 1 atypical teratoid rhabdoid tumor (ATRT), and gliomas (9/32, 28.1%), followed by medulloblastomas (3/31, 9.7%). In gliomas, P/LP variants in MLH1, NF1, MUTYH, PALB2, PMS2, FANCM, and TP53 were observed, while medulloblastomas carried alterations in SUFU, BRIP1, and FANCI. SMARCB1 variant was found in ATRT. Among 25 patients with intracranial germ cell tumors, only a single case carried a P/LP germline variant, identified in FANCI. Germline P/LP mutations were identified in 15.7% of Korean children and AYAs with CNS tumors, most commonly in gliomas and other CNS tumors. Our findings highlight the molecular heterogeneity of germline predisposition in CNS tumors and emphasize the importance of germline testing for risk assessment and surveillance. - Source: PubMed
Publication date: 2026/05/21
Park MeerimPark SeungmanOh EnselChoi JongmunKwon Mi MiPark Seog-YunLee Jun AhPark Hyeon Jin - Epithelioid sarcoma (ES) accounts for < 1% of all sarcomas and is characterized by predominantly epithelioid cytologic features together with epithelial immunophenotypic properties. Intraoral involvement is apparently rare with only 17 previously reported examples. Herein, the clinicopathologic and immunohistochemical features of 5 additional oral ES cases are presented with review of the literature. - Source: PubMed
Publication date: 2026/05/29
Argyris Prokopios PRubrecht Ashlie EBilodeau Elizabeth AFoss Robert DKoutlas Ioannis G - SMARCB1-deficient carcinomas exhibit a broad anatomical distribution. Herein, we characterize primary SMARCB1-deficient intestinal carcinoma (SdIC), encompassing both colorectal and small bowel origins. As an exceptionally rare and aggressive entity, SdIC presents significant diagnostic challenges due to its propensity to mimic other malignancies and the paucity of comprehensive clinical data, thereby hindering early recognition and effective management. - Source: PubMed
Publication date: 2026/05/26
Shi ChenxiLi San-EnJiang NanYan MengJiang Lili - Variants in SMARCB1, encoding a core subunit of the BAF chromatin remodeling complex, are associated with intellectual developmental disorders, particularly Coffin-Siris Syndrome (CSS), though the genotype-phenotype spectrum remains incompletely defined. This study aims to assess correlations between SMARCB1 variant location and phenotypic manifestations. - Source: PubMed
Publication date: 2026/05/27
Saad RamyGigli Clementina Cobollivan der Sluijs Pleuntje JWilson Jon RHsieh Tzung-ChienMcConnell Vivienne P MBacino CarlosBird Lynne MAdam ShelinClarke LorneCobben Jan MTravessa AndréFaivre LaurenceFarholt StenseGregersen Pernillevan Hasselt JosLahiri NayanaPalmer Elizabeth ESheffer RuthClayton-Smith JillWilnai YaelDeshpande CharuMorton Jenny E VClement EmmaSanten Gijs W EDias Cristina