Search results for "GEM"

showing 10 items of 19240 documents

Frequency and prognostic impact of ALK amplifications and mutations in the European Neuroblastoma Study Group (SIOPEN) high-risk neuroblastoma trial …

2021

Purpose: In neuroblastoma (NB), the ALK receptor tyrosine kinase can be constitutively activated through activating point mutations or genomic amplification. We studied ALK genetic alterations in high-risk (HR) patients on the HR-NBL1/SIOPEN trial to determine their frequency, correlation with clinical parameters, and prognostic impact. Materials and methods: Diagnostic tumor samples were available from 1,092 HR-NBL1/SIOPEN patients to determine ALK amplification status (n = 330), ALK mutational profile (n = 191), or both (n = 571). Results: Genomic ALK amplification (ALKa) was detected in 4.5% of cases (41 out of 901), all except one with MYCN amplification (MNA). ALKa was associated with …

0301 basic medicineCancer ResearchPrognostic ImpactAnaplastic Lymphoma Kinase/genetics; Child Preschool; Clinical Trials Phase III as Topic; Europe; Female; Follow-Up Studies; Gene Amplification; Humans; Infant; Male; Mutation Rate; N-Myc Proto-Oncogene Protein/genetics; Neuroblastoma/genetics; Prognosis; Randomized Controlled Trials as Topic; Risk Factors; Survival RateEuropean Neuroblastoma Study GroupSIOPENRELAPSE03 medical and health sciencesNeuroblastoma0302 clinical medicineText miningNeuroblastomahemic and lymphatic diseasesREVEALSMedicine and Health SciencesKINASEMedicineHigh risk neuroblastomaHETEROGENEITYCRIZOTINIBSEGMENTAL CHROMOSOMAL ALTERATIONSACTIVATING MUTATIONSPEDIATRIC-PATIENTSbusiness.industryALK receptor tyrosine kinasePoint mutationREARRANGEMENTSCHEMOTHERAPYmedicine.diseaseDoenças Genéticas030104 developmental biologyALKOncology030220 oncology & carcinogenesisCancer researchbusiness
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Management of toxicities associated with targeted therapies for HR-positive metastatic breast cancer: a multidisciplinary approach is the key to succ…

2019

Purpose: Agents targeting HR-positive, HER2-negative locally advanced or metastatic breast cancer have improved patient outcomes compared with conventional single-agent endocrine therapy. Currently, approved targeted agents include everolimus and three CDK4/6 inhibitors, palbociclib, ribociclib, and abemaciclib. Unlike the well-characterized and easily manageable safety profile of endocrine therapies, adverse events associated with targeted therapies are complex and potentially severe. Their prompt recognition and treatment, crucial for prolonged endocrine sensitivity and survival, may be challenging and requires a multidisciplinary effort and a good knowledge of drug interactions. Methods:…

0301 basic medicineCancer ResearchReviewDiseasechemistry.chemical_compound0302 clinical medicineRibociclibMolecular Targeted TherapyAbemaciclibClinical Trials as TopicDisease ManagementMetastatic breast cancerEverolimuOncologyReceptors Estrogen030220 oncology & carcinogenesisFemaleAdvanced breast cancerReceptors ProgesteroneBreast Neoplasmmedicine.drugHumanmedicine.medical_specialtyNeutropeniaDrug-Related Side Effects and Adverse ReactionsAntineoplastic Agents HormonalProtein Kinase InhibitorBreast NeoplasmsPalbociclibPalbociclib03 medical and health sciencesBreast cancermedicineBiomarkers TumorHumansEverolimusIntensive care medicineAdverse effectProtein Kinase InhibitorsEverolimusbusiness.industrymedicine.diseaseClinical trialAbemaciclib030104 developmental biologychemistryMED/06 - ONCOLOGIA MEDICAbusinessDrug-Related Side Effects and Adverse ReactionAbemaciclib; Advanced breast cancer; Everolimus; Neutropenia; Palbociclib; Ribociclib
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Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results

2020

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0301 basic medicineCancer Researchcongenital hereditary and neonatal diseases and abnormalitiesCARCINOMADNA mismatch repair3122 Cancerscolorectal cancersuolistosyövätBiologyGene mutationMLH1DIAGNOSISlcsh:RC254-282Article03 medical and health sciencesdeep sequencing0302 clinical medicineGermline mutationFREQUENT CAUSEMANAGEMENTLynchin oireyhtymäneoplasmspaksusuolisyöpäMUTATIONSPoint mutationMLH1METHYLATIONnutritional and metabolic diseasesNONPOLYPOSIS COLORECTAL-CANCERDEFECTSdiagnostiikkalcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensdigestive system diseases3. Good healthDNA-metylaatioMSH2MSH6030104 developmental biologyLynch syndromeOncologyMSH3syöpägeenitMSH2030220 oncology & carcinogenesisCancer researchDNA mismatch repairsyöpätauditCancers
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Immunobiology of Uveal Melanoma: State of the Art and Therapeutic Targets

2019

Uveal Melanoma (UM) represents the most common primary intraocular malignant tumor in adults. Although it originates from melanocytes as cutaneous melanoma, it shows significant clinical and biological differences with the latter, including high resistance to immune therapy. Indeed, UM can evade immune surveillance via multiple mechanisms, such as the expression of inhibitory checkpoints (e.g., PD-L1, CD47, CD200) and the production of IDO-1 and soluble FasL, among others. More in-depth understanding of these mechanisms will suggest potential targets for the design of novel and more effective management strategies for UM patients.

0301 basic medicineCancer Researchimmune-escapemedicine.medical_treatmentReviewlcsh:RC254-282Fas ligand03 medical and health sciences0302 clinical medicineImmune privilegemedicinebusiness.industryMelanomaCD47Effective managementImmunotherapyinhibitory checkpointimmune-privilegemedicine.diseaselcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensImmune surveillanceimmune-escape; immune-privilege; immunotherapy; inhibitory checkpoints; uveal melanomainhibitory checkpoints030104 developmental biologyOncology030220 oncology & carcinogenesisCutaneous melanomaCancer researchimmunotherapyuveal melanomabusiness
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The calm before the storm: a report from the International Liver Cancer Association Congress 2015 – part 2

2016

International Liver Cancer Association Congress 2015, Paris, France, 4–6 September 2015 Since its creation 9 years ago, in 2007, the International Liver Cancer Association has focused on the multidisciplinary approach to liver cancer due to advances in hepatology science and care worldwide. In its 2015 annual conference, held on 4–6 September in Paris, France, the most recent progresses in the basic biology, management and treatment of liver cancer have been presented. This report, divided into two parts, introduces and critically reviews some of the most intriguing topics discussed at the meeting.

0301 basic medicineCancer Researchmedicine.medical_specialtyPathologysurvivalliver cancer03 medical and health sciences0302 clinical medicineInternal medicinestaging systemmedicineHCC; immunotherapy; liver cancer; management; prognosis; sorafenib; staging system; survival; trial design; Carcinoma Hepatocellular; Disease Management; Humans; Liver Neoplasms; Oncology; Cancer ResearchHumansHCCDisease management (health)Staging systembusiness.industryCarcinomaLiver NeoplasmsDisease ManagementHepatocellularGeneral MedicineHepatologymedicine.disease030104 developmental biologyOncologyFamily medicinetrial designsorafenib030211 gastroenterology & hepatologyimmunotherapyprognosisbusinessLiver cancermanagementFuture Oncology
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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

2017

Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants, we used high-resolution three-dimensional chromosomal structural data and transcriptional regulatory information to predict position effects and their association with pathogenic phenotypes in 17 subjects with apparently balanced chromosomal abnormalities. We found that the rearrangements predict disruption of long-range chromatin interactions between several enhancers and genes whose annotated clinical features are strongly …

0301 basic medicineCandidate genediagnosis030105 genetics & heredityMedical and Health SciencescytogeneticsTranslocation Geneticchromosomal translocationChromosome Breakpointschromatin conformationbalanced chromosomal rearrangement2.1 Biological and endogenous factorsChromosomes HumanGenetics(clinical)AetiologyGenetics (clinical)In Situ HybridizationIn Situ Hybridization Fluorescencelong-range effectGeneticsGenetics & HeredityGene RearrangementGenomeChromosome MappingBiological SciencesChromatinPosition effectPhenotypeMedical geneticsHPOHumandistal effectmedicine.medical_specialtyChromosome engineeringchromosomal rearrangement/dk/atira/pure/subjectarea/asjc/1300/1311KaryotypeTranslocationChromosomal rearrangementBiologyChromosomesFluorescenceArticleChromosomal Position Effects03 medical and health sciencesGeneticClinical ResearchmedicineGeneticsHumansGenetic Predisposition to DiseaseGeneGenome HumanHuman GenomeGenetic Variation/dk/atira/pure/subjectarea/asjc/2700/2716030104 developmental biologyGene Expression RegulationHuman genomeclinical geneticsAmerican journal of human genetics
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Squalene versus cholesterol: Which is the best nanocarrier for the delivery to cells of the anticancer drug gemcitabine?

2018

Comptes Rendus Chimie - In Press.Proof corrected by the author Available online since jeudi 22 mars 2018

0301 basic medicineCholesterolGeneral Chemical Engineering02 engineering and technologyGeneral ChemistryPharmacology021001 nanoscience & nanotechnologyAnticancer drugGemcitabine3. Good health03 medical and health sciencesSqualenechemistry.chemical_compound030104 developmental biologychemistrymedicine[CHIM]Chemical SciencesNanocarriers0210 nano-technologyComputingMilieux_MISCELLANEOUSmedicine.drug
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<p>Chemotherapy of Locally Advanced or Metastatic Urothelial Cell Carcinoma: Monocentric Real-Life Data</p>

2020

Background/Aim Up to 30% of all patients will present with an advanced or a metastatic stage (mUCC) at the moment of the initial diagnosis of urothelial cell carcinoma of the bladder (UCC). We investigated the numbers, the efficacy and toxicity of different chemotherapies for mUCC in daily practice and "real-life" conditions and evaluated them substance-specifically. Patients and Methods All patients with a mUCC, who were treated between January 1, 2006 and October 31, 2016 at the Department of Urology and Pediatric Urology at University Hospital Marburg (Germany), were retrospectively analyzed. We set the focus on demographic and tumor-specific data as well as on effectiveness, therapy seq…

0301 basic medicineCisplatinOncologyChemotherapymedicine.medical_specialtyBladder cancerMetastatic Urothelial Carcinomabusiness.industrymedicine.medical_treatmentmedicine.diseaseGemcitabinePediatric urology03 medical and health sciences030104 developmental biology0302 clinical medicineOncologyUrothelial cell carcinoma030220 oncology & carcinogenesisInternal medicinemedicineStage (cooking)businessmedicine.drugCancer Management and Research
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Reducing sample size in experiments with animals: historical controls and related strategies

2015

Reducing the number of animal subjects used in biomedical experiments is desirable for ethical and practical reasons. Previous reviews of the benefits of reducing sample sizes have focused on improving experimental designs and methods of statistical analysis, but reducing the size of control groups has been considered rarely. We discuss how the number of current control animals can be reduced, without loss of statistical power, by incorporating information from historical controls, i.e. subjects used as controls in similar previous experiments. Using example data from published reports, we describe how to incorporate information from historical controls under a range of assumptions that mig…

0301 basic medicineComputer scienceDesign of experimentsControl (management)Control subjects01 natural sciencesGeneral Biochemistry Genetics and Molecular BiologyStatistical power010104 statistics & probability03 medical and health sciences030104 developmental biologySample size determinationStatisticsRange (statistics)Statistical analysis0101 mathematicsGeneral Agricultural and Biological SciencesStatistical hypothesis testingBiological Reviews
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2017

Functional near infrared spectroscopy (fNIRS) is a promising neuroimaging method for investigating networks of cortical regions over time. We propose a directed effective connectivity method (TPDC) allowing the capture of both time and frequency evolution of the brain’s networks using fNIRS data acquired from healthy subjects performing a continuous finger-tapping task. Using this method we show the directed connectivity patterns among cortical motor regions involved in the task and their significant variations in the strength of information flow exchanges. Intra and inter-hemispheric connections during the motor task with their temporal evolution are also provided. Characterisation of the …

0301 basic medicineComputer scienceHuman brainAtomic and Molecular Physics and OpticsTime–frequency analysisTask (project management)03 medical and health sciencesMotor task030104 developmental biology0302 clinical medicinemedicine.anatomical_structureNeuroimagingDynamics (music)medicineFunctional near-infrared spectroscopyEvolution of the brainNeuroscience030217 neurology & neurosurgeryBiotechnologyBiomedical Optics Express
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