Genetic Basis of SMARCB1 Protein Loss in 22 Sinonasal Carcinomas.
Sign Up to like & getrecommendations! Published in 2020 at "Human pathology"
DOI: 10.1016/j.humpath.2020.08.004
Abstract: SMARCB1-deficient sinonasal carcinoma (SNC) is an aggressive malignancy characterized by INI1 loss mostly due to homozygous SMARCB1 deletion. With the exception of a few reported cases, these tumors have not been thoroughly studied by massive… read more here.
Keywords: smarcb1; smarcb1 deficient; deficient snc; loss ... See more keywords
p53 pathway inactivation drives SMARCB1-deficient p53-wildtype epithelioid sarcoma onset indicating therapeutic vulnerability through MDM2 inhibition.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular cancer therapeutics"
DOI: 10.1158/1535-7163.mct-21-0770
Abstract: Loss of the gene SMARCB1 drives the development of malignant rhabdoid tumors, epithelioid sarcomas, and other malignancies. The SMARCB1 protein is a core component of the SWI/SNF-family of chromatin remodeling complexes, which are important regulators… read more here.
Keywords: epithelioid sarcoma; epithelioid sarcomas; p53; smarcb1 deficient ... See more keywords
Abstract A03: Perturbation of proteostasis is lethal in SMARCB1-deficient tumors
Sign Up to like & getrecommendations! Published in 2018 at "Cancer Research"
DOI: 10.1158/1538-7445.mousemodels17-a03
Abstract: Alterations in chromatin remodeling genes have been increasingly implicated in human oncogenesis. The SWI/SNF complex, specifically, is involved in a plethora of biologic functions including cell cycle regulation, terminal differentiation, and regulation of cell metabolism.… read more here.
Keywords: perturbation proteostasis; deficient; smarcb1 deficient; lethal smarcb1 ... See more keywords
Response to PD-1 inhibitor in SMARCB1‑deficient undifferentiated rectal carcinoma with low TMB, proficient MMR and BRAF V600E mutation: a case report and literature review
Sign Up to like & getrecommendations! Published in 2024 at "Diagnostic Pathology"
DOI: 10.1186/s13000-023-01415-8
Abstract: Background Despite major advancements, effective treatment for patients with SMARCB1-deficient cancers has remained elusive. Here, we report the first case of a SMARCB1-deficient undifferentiated carcinoma in the rectum expressing high PD-L1 and responding to a… read more here.
Keywords: smarcb1 deficient; deficient undifferentiated; tumor; case ... See more keywords
Phase 1/2 study of tiragolumab and atezolizumab in patients with relapsed or refractory SMARCB1- or SMARCA4-deficient tumors: PEPN2121.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2025.43.16_suppl.tps2695
Abstract: TPS2695 Background: The SMARCB1/A4 gene products are core subunits of the SWItch/Sucrose Non Fermentable (SWI/SNF) chromatin remodeling complex. Tumors with defects in SWI/SNF are histologically distinct aggressive cancers occurring in children and young adults. SMARCB1/A4… read more here.
Keywords: smarcb1 deficient; part; tiragolumab; phase ... See more keywords
SMARCB1-Deficient Cancers: Novel Molecular Insights and Therapeutic Vulnerabilities
Sign Up to like & getrecommendations! Published in 2022 at "Cancers"
DOI: 10.3390/cancers14153645
Abstract: Simple Summary Loss of SMARCB1 has been identified as the sole mutation in a number of rare pediatric and adult cancers, most of which have a poor prognosis despite intensive therapies including surgery, radiation, and… read more here.
Keywords: loss smarcb1; smarcb1 deficient; deficient; tumor ... See more keywords