0000000000226028

AUTHOR

Harvey A. Risch

showing 7 related works from this author

A GEM-TPC in twin configuration for the Super-FRS tracking of heavy ions at FAIR

2018

The GEM-TPC [1] described herein will be part of the standard beam-diagnostics equipment of the Super-FRS [2] . This chamber will provide tracking information for particle identification at rates up to 1 MHz on an event-by-event basis. The key requirements of operation for these chambers are: close to 100% tracking efficiency under conditions of high counting rate, spatial resolution below 1 mm and a superb large dynamic range covering projectiles from Z=1 up to Z=92. The current prototype consists of two GEM-TPCs inside a single vessel, which are operating independently and have electrical drift fields in opposite directions. The twin configuration is done by flipping one of the GEM-TPCs o…

radioactive ion beamNuclear and High Energy PhysicsProtonfragment separatorPhysics::Instrumentation and Detectorssuper-FRSchemistry.chemical_elementTracking (particle physics)01 natural sciences7. Clean energyParticle identificationGSIXenonOptics0103 physical sciencesseurantaNuclear Experiment010306 general physicsInstrumentationImage resolutionPhysicsTime projection chamberta114010308 nuclear & particles physicsProjectilebusiness.industrytrackingfairtime projection chamberbeam adjustmentchemistrygas electron multiplierGas electron multiplierbusinessNuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment
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Twin GEM-TPC prototype (HGB4) beam test at GSI and Jyväskylä : a development for the Super-FRS at FAIR

2017

The FAIR[1] facility is an international accelerator centre for research with ion and antiproton beams. It is being built at Darmstadt, Germany as an extension to the current GSI research institute. One major part of the facility will be the Super-FRS[2] separator, which will be include in phase one of the project construction. The NUSTAR experiments will benefit from the Super-FRS, which will deliver an unprecedented range of radioactive ion beams (RIB). These experiments will use beams of different energies and characteristics in three different branches; the high-energy which utilizes the RIB at relativistic energies 300-1500 MeV/u as created in the production process, the low-energy bra…

Radioactive ion beamsPhysics - Instrumentation and DetectorsPhysics::Instrumentation and DetectorsSeparator (oil production)hiukkaskiihdyttimet01 natural sciences7. Clean energy114 Physical sciencesParticle identificationNuclear physics0103 physical sciencesElectronicsNuclear ExperimentdetectorsPhysicsta114010308 nuclear & particles physicsProjectileI.2.7Detectorparticle acceleratorsilmaisimetAntiprotonPhysics::Accelerator PhysicsF.2.2Beam (structure)
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Germline variation in the insulin-like growth factor pathway and risk of Barrett's esophagus and esophageal adenocarcinoma

2020

Contains fulltext : 235640.pdf (Publisher’s version ) (Closed access) Genome-wide association studies (GWAS) of esophageal adenocarcinoma (EAC) and its precursor, Barrett's esophagus (BE), have uncovered significant genetic components of risk, but most heritability remains unexplained. Targeted assessment of genetic variation in biologically relevant pathways using novel analytical approaches may identify missed susceptibility signals. Central obesity, a key BE/EAC risk factor, is linked to systemic inflammation, altered hormonal signaling and insulin-like growth factor (IGF) axis dysfunction. Here, we assessed IGF-related genetic variation and risk of BE and EAC. Principal component analys…

0301 basic medicineOncologyMaleCancer Researchmedicine.medical_specialtyEsophageal NeoplasmsMedizinSingle-nucleotide polymorphismGenome-wide association studyBiologyAdenocarcinomaPolymorphism Single NucleotideReceptor IGF Type 103 medical and health sciencesBarrett Esophagus0302 clinical medicineRisk FactorsSomatomedinsInternal medicineGenetic variationmedicineBiomarkers TumorSNPHumansGenetic Predisposition to DiseaseRisk factorGerm-Line MutationCancer Biomarkers and Molecular EpidemiologyInsulin-like growth factor 1 receptorGenetic associationAgedGeneral MedicineMiddle Agedmedicine.diseaseRenal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]030104 developmental biology030220 oncology & carcinogenesisBarrett's esophagusFemaleHuman medicineCarrier ProteinsGenome-Wide Association StudySignal TransductionCarcinogenesis
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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013

Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…

TelomeraseMessengerCàncer d'ovariEstrogen receptorAetiology screening and detection [ONCOL 5]0302 clinical medicineBreast cancerRisk FactorsAlternative Splicing; Biomarkers Tumor; Breast Neoplasms; Case-Control Studies; Chromatin; DNA Methylation; Female; Gene Expression Profiling; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Luciferases; Oligonucleotide Array Sequence Analysis; Ovarian Neoplasms; Polymorphism Single Nucleotide; RNA Messenger; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Telomerase; Telomere; GeneticsGenotypeBUCCAL CELLSLuciferasesTelomeraseOligonucleotide Array Sequence AnalysisOvarian Neoplasms0303 health sciencesTumorTelòmerReverse Transcriptase Polymerase Chain ReactionGENETIC-VARIATIONCOMMON VARIANTSSingle Nucleotidetert-clptm1l locus; genome-wide association; genetic-variation; susceptibility loci; buccal cells; fibroblasts; common variants; carcinoma; reverse-transcriptase htert; metaanalysisTelomereAetiology screening and detection Immune Regulation [ONCOL 5]Chromatin3. Good healthTumor Markers Biological030220 oncology & carcinogenesisFemaleFIBROBLASTSGenotypeSUSCEPTIBILITY LOCICARCINOMASingle-nucleotide polymorphismBreast NeoplasmsBiologyReal-Time Polymerase Chain ReactionPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancermedicineGeneticsBiomarkers TumorHumansGenetic Predisposition to DiseaseRNA MessengerPolymorphismAlleleGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyMolecular epidemiology Aetiology screening and detection [NCEBP 1]Breast cancer susceptibilityHereditary cancer and cancer-related syndromes [ONCOL 1]Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3]Gene Expression ProfilingDNA Methylationmedicine.diseaseMolecular biologyTERT-CLPTM1L LOCUSTelomereMinor allele frequencyAlternative SplicingGenetic LociCase-Control StudiesRNABiomarkersREVERSE-TRANSCRIPTASE HTERTGenome-Wide Association StudyNature genetics
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Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations

1999

Two biallelic polymorphisms in introns 3 and 6 of the p53 gene were analysed for a possible risk-modifying effect for ovarian cancer. Germline DNA was genotyped from 310 German Caucasian ovarian cancer patients and 364 healthy controls. We also typed 124 affected and 276 unaffected female carriers with known deleterious BRCA1 or BRCA2 germline mutation from high-risk breast-ovarian cancer families. Genotyping was based on PCR and high-resolution gel electrophoresis. German ovarian cancer patients who carried the rare allele of the MspI restriction fragment length polymorphism (RELP) in intron 6 were found to have an overall 1.93-fold increased risk (95% confidence internal (CI) 1.27–2.91) w…

p53AdultCancer Researchendocrine system diseasesAdolescentGenotypeGenes BRCA1BiologypolymorphismGermline mutationRisk FactorsGenotypemedicineTumor Cells CulturedHumansAlleleAllele frequencyGerm-Line MutationAgedGeneticsAged 80 and overBRCA2 ProteinOvarian NeoplasmsGenetic Carrier ScreeningCancerGenetic VariationRegular ArticleMiddle Agedmedicine.diseaseBRCA2 ProteinBRCA1Genes p53BRCA2IntronsNeoplasm Proteinsovarian cancerOncologyCase-Control StudiesCancer researchFemaleRestriction fragment length polymorphismOvarian cancergenetic susceptibilityTranscription FactorsBritish Journal of Cancer
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No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma: A Mendelian Randomization Study.

2019

Contains fulltext : 215282.pdf (Publisher’s version ) (Closed access) BACKGROUND & AIMS: Epidemiology studies of circulating concentrations of 25 hydroxy vitamin D (25(OH)D) and risk of esophageal adenocarcinoma (EAC) have produced conflicting results. We conducted a Mendelian randomization study to determine the associations between circulating concentrations of 25(OH)D and risks of EAC and its precursor, Barrett's esophagus (BE). METHODS: We conducted a Mendelian randomization study using a 2-sample (summary data) approach. Six single-nucleotide polymorphisms (SNPs; rs3755967, rs10741657, rs12785878, rs10745742, rs8018720, and rs17216707) associated with circulating concentrations of 25(O…

Malemedicine.medical_specialtyEsophageal NeoplasmsMedizinSingle-nucleotide polymorphismAdenocarcinomaGastroenterologyPolymorphism Single NucleotideRisk AssessmentArticleBarrett EsophagusRisk FactorsInternal medicineMendelian randomizationEpidemiologymedicineVitamin D and neurologyBiomarkers TumorSNPHumansVitamin DHepatologybusiness.industryGastroenterologyOdds ratioDNA NeoplasmEsophageal cancerMendelian Randomization Analysismedicine.diseaseEuropeRenal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]Barrett's esophagusNorth AmericaFemaleMorbiditybusinessClinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
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Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types

2015

BACKGROUND: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.METHODS: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cance…

MaleCancer ResearchLung NeoplasmsLymphomaGenome-wide association studyPolymorphism (computer science)NeoplasmsMedicineChronicGeneticsOsteosarcomaOncology And CarcinogenesisLeukemiaSmokingFamily aggregationSingle NucleotideMiddle AgedFamilial riskDiffuseKidney NeoplasmsLymphocyticOncologyAdult; Aged; Asian Continental Ancestry Group; Bone Neoplasms; European Continental Ancestry Group; Female; Humans; Kidney Neoplasms; Leukemia Lymphocytic Chronic B-Cell; Lung Neoplasms; Lymphoma Large B-Cell Diffuse; Male; Middle Aged; Neoplasms; Osteosarcoma; Polymorphism Single Nucleotide; Smoking; Testicular Neoplasms; Tissue Array Analysis; Urinary Bladder Neoplasms; Genetic Predisposition to Disease; Genome-Wide Association StudyFemaleLymphoma Large B-Cell DiffuseAdultAsian Continental Ancestry GroupEuropean Continental Ancestry Group/Bone NeoplasmsPolymorphism Single NucleotideGenetic correlationTesticular NeoplasmsLarge B-CellHumansGenetic Predisposition to DiseaseOncology & CarcinogenesisPolymorphismAgedbusiness.industryExtramuralB-CellCancerHeritabilityGenome-wide association studies for thirteen cancer typesmedicine.diseaseLeukemia Lymphocytic Chronic B-CellUrinary Bladder NeoplasmsTissue Array AnalysisbusinessGenome-Wide Association StudyJournal of the National Cancer Institute
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