Associated Papers
Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.
Liu L et al.
Medcomm, 2025
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 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 evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
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
Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.
Park HY et al.
Biomedicines, 2023
Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing.
Alba-Pavón P et al.
Scientific Reports, 2023
Next generation sequencing identifies novel potential actionable mutations for grade I meningioma treatment.
Pepe F et al.
Histology and Histopathology, 2020
Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling.
Valencia AM et al.
Cell, 2019
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
Sellar Region Atypical Teratoid/Rhabdoid Tumors in Adults: Clinicopathological Characterization of Five Cases and Review of the Literature.
Paolini MA et al.
Journal of Neuropathology and Experimental Neurology, 2018
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
Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.
Kim YS et al.
Bmc Urology, 2018
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.
Kehrer-Sawatzki H et al.
Molecular Genetics & Genomic Medicine, 2018
Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.
Lee JY et al.
Translational Oncology, 2018
Pain correlates with germline mutation in schwannomatosis.
Jordan JT et al.
Medicine, 2018
Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.
Johann PD et al.
Brain Pathology (zurich, Switzerland), 2017
Genomic characteristics of trastuzumab-resistant Her2-positive metastatic breast cancer.
de Oliveira Taveira M et al.
Journal of Cancer Research and Clinical Oncology, 2017
Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.
Richer W et al.
Oncotarget, 2017
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
Kehrer-Sawatzki H et al.
Human Genetics, 2017
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.
Gigante L et al.
Familial Cancer, 2016
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
Use of clinical next-generation sequencing to identify melanomas harboring SMARCB1 mutations.
Stockman DL et al.
Journal of Cutaneous 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
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
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
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
Smith MJ et al.
Human Molecular Genetics, 2012
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
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
Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.
Nasrallah MP et al.
Academic Pathology, 0