Associated Papers
Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.
Tao K et al.
Cancer Science, 2026
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
Constitutional mosaicism of pathogenic variants in SMARCB1 in a subset of patients with sporadic rhabdoid tumors.
Fleischmann LS et al.
Neuro-oncology, 2025
Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance.
Nakano Y et al.
European Journal of Human Genetics : Ejhg, 2024
The Role of Methylation Analysis in Distinguishing Cellular Myxoma from Low-Grade Myxofibrosarcoma.
Henzinger H et al.
International Journal of Molecular Sciences, 2024
Tazemetostat for tumors harboring SMARCB1/SMARCA4 or EZH2 alterations: results from NCI-COG pediatric MATCH APEC1621C.
Chi SN et al.
Journal of the National Cancer Institute, 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
An institutional review of genomic sequencing in pediatric solid tumors.
Turco GM et al.
Pediatric Blood & Cancer, 2023
SWI/SNF complex gene variations are associated with a higher tumor mutational burden and a better response to immune checkpoint inhibitor treatment: a pan-cancer analysis of next-generation sequencing data corresponding to 4591 cases.
Li Y et al.
Cancer Cell International, 2022
Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.
Yamashita H et al.
Brain Tumor Pathology, 2022
Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor.
Fukushima H et al.
Pathology International, 2021
High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors.
Shirai R et al.
European Journal of Human Genetics : Ejhg, 2020
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.
Diets IJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Validating Comprehensive Next-Generation Sequencing Results for Precision Oncology: The NCT/DKTK Molecularly Aided Stratification for Tumor Eradication Research Experience.
Lier A et al.
Jco Precision Oncology, 2018
Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.
Kim YS et al.
Bmc Urology, 2018
Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.
Lee JY et al.
Translational Oncology, 2018
Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.
Richer W et al.
Oncotarget, 2017
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Lee JY et al.
Oncotarget, 2015
Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.
Park K et al.
Oncotarget, 2015
[Familial Hemophagocytic Lymphohistiocytosis, That was Considered as Progressive Encephalitis before Sibling was Diagnosed].
Fukushima H et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2015
Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumors.
Hovelson DH et al.
Neoplasia (new York, N.y.), 2015
Biology and Treatment of Rhabdoid Tumor.
Geller JI et al.
Critical Reviews in Oncogenesis, 2015
Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency.
Sandgren J et al.
Biomed Research International, 2015
Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.
Tone AA et al.
Bmc Cancer, 2014
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.
Smith MJ et al.
Cancer Genetics, 2014
Clinical and genetic features of rhabdoid tumors of the heart registered with the European Rhabdoid Registry (EU-RHAB).
Bartelheim K et al.
Cancer Genetics, 2014
High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.
Kim S et al.
Plos One, 2014
Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system.
Bruggers CS et al.
Pediatric Blood & Cancer, 2011
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
Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.
Kordes U et al.
Genes, Chromosomes & Cancer, 2010
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
Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations.
Sévenet N et al.
Human Molecular Genetics, 1999
Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.
Sévenet N et al.
American Journal of Human Genetics, 1999