Associated Papers
Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.
Tao K et al.
Cancer Science, 2026
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Crucial role of preserving umbilical cord stumps for genetic decoding of a family with rhabdoid tumor predisposition syndrome.
Pradeepkumar M et al.
Gene, 2025
Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.
George SL et al.
Cancer Discovery, 2025
Constitutional mosaicism of pathogenic variants in SMARCB1 in a subset of patients with sporadic rhabdoid tumors.
Fleischmann LS et al.
Neuro-oncology, 2025
Opportunities for Improving Detection of Cancer Predisposition Syndromes in Pediatric Solid Tumor Patients.
Hu B et al.
Journal of Pediatric Hematology/oncology, 2024
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Modeling human brain rhabdoid tumor by inactivating tumor suppressor genes in induced pluripotent stem cells.
Hua T et al.
Bioactive Materials, 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
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
Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy.
Zakaria NH et al.
Human Genomics, 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
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
Clinicopathologic Characteristics and Outcomes for Patients With KRAS G12D-Mutant NSCLC.
Cooper AJ et al.
Jto Clinical and Research Reports, 2022
High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors.
Shirai R et al.
European Journal of Human Genetics : Ejhg, 2020
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Winter H et al.
Cancers, 2019
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
NPM1 as a potential therapeutic target for atypical teratoid/rhabdoid tumors.
Phi JH et al.
Bmc Cancer, 2019
Recurrent SMARCB1 Inactivation in Epithelioid Malignant Peripheral Nerve Sheath Tumors.
Schaefer IM et al.
The American Journal of Surgical Pathology, 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
MultiDimensional ClinOmics for Precision Therapy of Children and Adolescent Young Adults with Relapsed and Refractory Cancer: A Report from the Center for Cancer Research.
Chang W et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.
Wong SQ et al.
British Journal of Cancer, 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
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.
Smith MJ et al.
Cancer Genetics, 2014
Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.
Van Allen EM et al.
Nature Medicine, 2014
Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS).
Kordes U et al.
Pediatric Blood & Cancer, 2014
Genome-wide approach to identify second gene targets for malignant rhabdoid tumors using high-density oligonucleotide microarrays.
Takita J et al.
Cancer Science, 2014
Genotyping cancer-associated genes in chordoma identifies mutations in oncogenes and areas of chromosomal loss involving CDKN2A, PTEN, and SMARCB1.
Choy E et al.
Plos One, 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
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
Atypical teratoid/rhabdoid tumors and choroid plexus tumors: when genetics "surprise" pathology.
Gessi M et al.
Brain Pathology (zurich, Switzerland), 2003
Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors.
Uno K et al.
Genes, Chromosomes & Cancer, 2002
Alteration of hSNF5/INI1/BAF47 detected in rhabdoid cell lines and primary rhabdomyosarcomas but not Wilms' tumors.
DeCristofaro MF et al.
Oncogene, 1999