Associated Papers
Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant.
van Engelen N et al.
Pediatric Blood & Cancer, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
The Clinicopathological and Molecular Characteristics of Endocervical Gastric-Type Adenocarcinoma and the Use of Claudin18.2 as a Potential Therapeutic Target.
Yang J et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024
Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics.
Johann PD et al.
Acta Neuropathologica, 2023
The role of chromatin remodeler SMARCA4/BRG1 in brain cancers: a potential therapeutic target.
Navickas SM et al.
Oncogene, 2023
Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.
Gao F et al.
Cancer Medicine, 2023
SMARCA4-deficient rhabdoid tumours show intermediate molecular features between SMARCB1-deficient rhabdoid tumours and small cell carcinomas of the ovary, hypercalcaemic type.
Andrianteranagna M et al.
The Journal of Pathology, 2021
High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer.
Lee SE et al.
International Journal of Molecular Sciences, 2021
Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.
Holdhof D et al.
Acta Neuropathologica, 2021
Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.
Gao F et al.
Frontiers in Genetics, 2021
Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
Fernando TM et al.
Nature Communications, 2020
An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.
Lu B et al.
Journal of Cancer, 2019
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Lim ET et al.
Nature Neuroscience, 2017
SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis.
Hasselblatt M et al.
Acta Neuropathologica, 2014
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
Ramos P et al.
Nature Genetics, 2014
Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).
Ramos P et al.
Rare Diseases (austin, Tex.), 2014
Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression.
Hasselblatt M et al.
The American Journal of Surgical Pathology, 2011
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
Schneppenheim R et al.
American Journal of Human Genetics, 2010