Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.R53*
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SMARCB1

NM_003073.5:p.R53*

Associated Papers

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

Constitutional mosaicism of pathogenic variants in SMARCB1 in a subset of patients with sporadic rhabdoid tumors.

Fleischmann LS et al.

Neuro-oncology, 2025

SMARCB1-deficient sinonasal adenocarcinoma: a rare variant of SWI/SNF-deficient malignancy often misclassified as high-grade non-intestinal-type sinonasal adenocarcinoma or myoepithelial carcinoma.

Skálová A et al.

Virchows Archiv : an International Journal of Pathology, 2024

Discovery of Novel Potential Prognostic Markers and Targeted Therapy to Overcome Chemotherapy Resistance in an Advanced-Stage Wilms Tumor.

Choochuen P et al.

Cancers, 2024

38672648 (PubMed )
Supplement: cancers-16-01567-s001.zip › Supplementary_Table_S2.pdf

Tazemetostat in the therapy of pediatric INI1-negative malignant rhabdoid tumors.

Vejmelkova K et al.

Scientific Reports, 2023

A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.

Brugmans AK et al.

Cellular and Molecular Neurobiology, 2023

37219662 (PubMed )
Supplement: 10571_2023_1361_MOESM1_ESM.pdf

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

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

Novel Two MRT Cell Lines Established from Multiple Sites of a Synchronous MRT Patient.

Kuwahara Y et al.

Anticancer Research, 2020

High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors.

Shirai R et al.

European Journal of Human Genetics : Ejhg, 2020

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Recurrent SMARCB1 Inactivation in Epithelioid Malignant Peripheral Nerve Sheath Tumors.

Schaefer IM et al.

The American Journal of Surgical Pathology, 2019

Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Surrey LF et al.

Genome Medicine, 2019

31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8

Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

MacFarland SP et al.

Jco Precision Oncology, 2019

PIK3CA mutation is a favorable prognostic factor in esophageal cancer: molecular profile by next-generation sequencing using surgically resected formalin-fixed, paraffin-embedded tissue.

Yokota T et al.

Bmc Cancer, 2018

30115035 (PubMed )
Supplement: 12885_2018_4733_MOESM1_ESM.xlsx › raw_data_of_mutations

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.

Holsten T et al.

European Journal of Human Genetics : Ejhg, 2018

Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.

Richer W et al.

Oncotarget, 2017

Biology and Treatment of Rhabdoid Tumor.

Geller JI et al.

Critical Reviews in Oncogenesis, 2015

Congenital multifocal rhabdoid tumor: a case with peculiar biological behavior and different response to treatment according to location (central nervous system and kidney).

Pio L et al.

Cancer Genetics, 2014

Case report: long-term survival of an infant syndromic patient affected by atypical teratoid-rhabdoid tumor.

Modena P et al.

Bmc Cancer, 2013

High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors.

Hasselblatt M et al.

Genes, Chromosomes & Cancer, 2013

Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor.

Bourdeaut F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.

Eaton KW et al.

Pediatric Blood & Cancer, 2011

Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors.

Jackson EM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009

Molecular genetics of atypical teratoid/rhabdoid tumor.

Biegel JA

Neurosurgical Focus, 2006

Cyclin D1 is overexpressed in atypical teratoid/rhabdoid tumor with hSNF5/INI1 gene inactivation.

Fujisawa H et al.

Journal of Neuro-oncology, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."