Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Constitutional mosaicism of pathogenic variants in SMARCB1 in a subset of patients with sporadic rhabdoid tumors.
Fleischmann LS et al.
Neuro-oncology, 2025
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
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 2023
Inhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabdoid tumors.
Pathak R et al.
Acta Neuropathologica, 2021
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
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
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
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
Genomic characteristics of trastuzumab-resistant Her2-positive metastatic breast cancer.
de Oliveira Taveira M et al.
Journal of Cancer Research and Clinical Oncology, 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
Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.
Tone AA et al.
Bmc Cancer, 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
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
Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations.
Sévenet N et al.
Human Molecular Genetics, 1999