2022
Downregulation of SATB1 by miRNAs reduces megakaryocyte/erythroid progenitor expansion in preclinical models of Diamond–Blackfan anemia
Wilkes MC, Scanlon V, Shibuya A, Cepika AM, Eskin A, Chen Z, Narla A, Glader B, Roncarolo MG, Nelson SF, Sakamoto KM. Downregulation of SATB1 by miRNAs reduces megakaryocyte/erythroid progenitor expansion in preclinical models of Diamond–Blackfan anemia. Experimental Hematology 2022, 111: 66-78. PMID: 35460833, PMCID: PMC9255422, DOI: 10.1016/j.exphem.2022.04.005.Peer-Reviewed Original ResearchConceptsMegakaryocyte/erythroid progenitorsDiamond-Blackfan anemiaRibosomal proteinsPathogenesis of DBAErythroid progenitorsHuman hematopoietic stemInherited bone marrow failure syndromeChromatin regulatorsRibosomal insufficiencyErythroid differentiationProgenitor expansionBone marrow failure syndromesCancer predispositionHematopoietic stemMiR-30MiR-34Molecular pathwaysMegakaryocyte expansionMarrow failure syndromesNormal erythropoiesisProgenitor cellsCoordinated actionSATB1ProgenitorsDifferentiation
2021
A Case of Pheochromocytoma as a Subsequent Neoplasm in a Survivor of Childhood Embryonal Rhabdomyosarcoma
Rodwin RL, Janardan SK, Hofstatter EW, Kadan-Lottick NS. A Case of Pheochromocytoma as a Subsequent Neoplasm in a Survivor of Childhood Embryonal Rhabdomyosarcoma. Journal Of Pediatric Hematology/Oncology 2021, 44: e585-e588. PMID: 35200227, PMCID: PMC8873988, DOI: 10.1097/mph.0000000000002270.Peer-Reviewed Case Reports and Technical NotesConceptsChildhood embryonal rhabdomyosarcomaSubsequent neoplasmsEmbryonal rhabdomyosarcomaGenetic testingPathogenic variantsCase of pheochromocytomaChildhood cancer survivorsCancer predispositionClinical presentationCancer survivorsGenetic cancer predispositionClinical implicationsUncertain significanceNeoplasmsRhabdomyosarcomaSurvivorsPredispositionPheochromocytomaBladderTestingDeafnessVariantsWomen
2019
Binding of FANCI-FANCD2 Complex to RNA and R-Loops Stimulates Robust FANCD2 Monoubiquitination
Liang Z, Liang F, Teng Y, Chen X, Liu J, Longerich S, Rao T, Green AM, Collins NB, Xiong Y, Lan L, Sung P, Kupfer GM. Binding of FANCI-FANCD2 Complex to RNA and R-Loops Stimulates Robust FANCD2 Monoubiquitination. Cell Reports 2019, 26: 564-572.e5. PMID: 30650351, PMCID: PMC6350941, DOI: 10.1016/j.celrep.2018.12.084.Peer-Reviewed Original ResearchConceptsR-loopsCo-transcriptional R-loopsFANCI-FANCD2 complexFanconi anemiaR-loop structuresSeries of RNADNA replicative stressGuanine-rich sequencesFANCD2 monoubiquitinationGenomic lociID2 complexReplicative stressFA cellsRNA transcriptionFA pathwayComplex bindsDNA hybridsCancer predispositionBone marrow failureDNA damageRNAMonoubiquitinationDevelopmental abnormalitiesMarrow failureSsRNA
2018
Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer
Latham A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, Middha S, Hechtman J, Zehir A, Dubard-Gault M, Tran C, Stewart C, Sheehan M, Penson A, DeLair D, Yaeger R, Vijai J, Mukherjee S, Galle J, Dickson M, Janjigian Y, O’Reilly E, Segal N, Saltz L, Reidy-Lagunes D, Varghese A, Bajorin D, Carlo M, Cadoo K, Walsh M, Weiser M, Aguilar J, Klimstra D, Diaz L, Baselga J, Zhang L, Ladanyi M, Hyman D, Solit D, Robson M, Taylor B, Offit K, Berger M, Stadler Z. Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. Journal Of Clinical Oncology 2018, 37: 286-295. PMID: 30376427, PMCID: PMC6553803, DOI: 10.1200/jco.18.00283.Peer-Reviewed Original ResearchConceptsGenetic testing criteriaPrevalence of LSFamily cancer historyMicrosatellite instabilityMSI-HMismatch repair genesMMR-D tumorsMicrosatellite instability statusHigh-frequency microsatellite instabilityPrediction of LSLynch syndromeMMR-DCancer historyCancer surveillanceEndometrial cancerPersonal/family historyUnique patientsMismatch repair deficiencyPreventive measuresCancer predispositionSolid tumorsAffected familiesTumor spectrumImmunohistochemical stainingRepair genesKrebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair
Sulkowski PL, Sundaram RK, Oeck S, Corso CD, Liu Y, Noorbakhsh S, Niger M, Boeke M, Ueno D, Kalathil AN, Bao X, Li J, Shuch B, Bindra RS, Glazer PM. Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair. Nature Genetics 2018, 50: 1086-1092. PMID: 30013182, PMCID: PMC6072579, DOI: 10.1038/s41588-018-0170-4.Peer-Reviewed Original ResearchConceptsDNA double-strand breaksPGL/PCCDNA repair deficiency syndromeHomologous recombination DNA repair pathwayDNA repair pathwaysDouble-strand breaksHomologous recombination DNA repairSynthetic lethal targetingGenomic integrityDNA repairFumarate hydrataseMechanistic basisCancer predispositionFunction mutationsGermline lossKrebs cycleSuccinate dehydrogenaseHereditary paragangliomaRespectively1–3Ribose polymerase inhibitorsHereditary leiomyomatosisHereditary cancer syndromesCancer syndromesTumor cellsPolymerase inhibitorsThe role of genomic profiling in adolescents and young adults (AYAs) with advanced cancer participating in phase I clinical trials
McVeigh T, Sundar R, Diamantis N, Kaye S, Banerji U, Lopez J, de Bono J, van der Graaf W, George A. The role of genomic profiling in adolescents and young adults (AYAs) with advanced cancer participating in phase I clinical trials. European Journal Of Cancer 2018, 95: 20-29. PMID: 29614442, PMCID: PMC6296443, DOI: 10.1016/j.ejca.2018.02.028.Peer-Reviewed Original ResearchConceptsDrug Development UnitGermline testingAdvanced cancerPhase I clinical trialTumor testingPersonal history of cancerAdvanced solid tumorsProportion of AYAsRoyal Marsden HospitalHistory of cancerAt-risk relativesCommon cancer typesYoung adultsDepartmental databaseClinicopathological featuresSolid tumorsChart reviewFamily risk factorsGermline mutationsPathogenic variantsStudy cohortCancer predispositionGenomic profilingPatient managementGenetic testingChapter 16 Genetic Variations of Long Noncoding RNAs in Cancer
Dimitrova N. Chapter 16 Genetic Variations of Long Noncoding RNAs in Cancer. 2018, 289-308. DOI: 10.1016/b978-0-12-811022-5.00016-4.Peer-Reviewed Original ResearchComprehensive genome analysisFunction of lncRNAsLong noncoding RNALncRNA lociCancer susceptibility variantsGenome analysisGenetic variationRegulatory regionsNoncoding RNAsGenomic dataSomatic variationExpression patternsFocal amplificationCancer predispositionPhysiological roleLncRNAsFunctional consequencesHuman cancersNucleotide polymorphismsExpression levelsRNAMechanism of actionNovel classIntriguing associationStrong linkage
2017
Genetic Evaluation for Women at Increased Risk
Brierley K, Healy C, Hofstatter E. Genetic Evaluation for Women at Increased Risk. 2017, 15-30. DOI: 10.1007/978-3-319-59198-8_2.Peer-Reviewed Original ResearchOvarian cancerFamily historyHereditary breastUS Preventative Services Task ForceModerate-penetrance genesHereditary cancer predispositionHealth care providersManagement of individualsBRCA mutationsPretest counselingCare providersGenetic testing optionsMultidisciplinary teamRisk assessmentInformed consentPatientsCancerTesting optionsGenetic counseling processFurther risk assessmentCancer predispositionCancer geneticsBreastTask ForceProvidersA prospective analysis of germline alterations (GA) in biliary tract cancer (BTC).
Lowery M, Jordan E, Kemel Y, Mukherjee S, Cercek A, Kemeny N, Varghese A, Rusek M, Boucher T, Mandelker D, Berger M, Ptashkin R, Hyman D, Klimstra D, Saltz L, O'Reilly E, Robson M, Stadler Z, Offit K, Abou-Alfa G. A prospective analysis of germline alterations (GA) in biliary tract cancer (BTC). Journal Of Clinical Oncology 2017, 35: 4085-4085. DOI: 10.1200/jco.2017.35.15_suppl.4085.Peer-Reviewed Original ResearchBiliary tract cancerHistory of cancerGermline alterationsPositive family history of cancerProspective analysisFamily history of cancerHereditary cancer predisposition syndromesMatched tumor samplesPersonal history of cancerPositive family historyCancer predisposition syndromeHereditary cancer predispositionIRB-approved protocolMedian ageMSK-IMPACTPredisposition syndromeSomatic alterationsGermline mutationsTumor samplesMismatch repair genesGermline variantsClinical dataFamily historyCancer predispositionDegree relativesProspective assessment for pathogenic germline alterations (PGA) in pancreas cancer (PAC).
Jordan E, Lowery M, Wong W, Kemel Y, Mukherjee S, Ravichandran V, Basturk O, Yu K, Iacobuzio-Donahue C, Lincoln A, Varghese A, Abou-Alfa G, Leach S, Klimstra D, Allen P, Robson M, Stadler Z, Vijai J, Offit K, O'Reilly E. Prospective assessment for pathogenic germline alterations (PGA) in pancreas cancer (PAC). Journal Of Clinical Oncology 2017, 35: 4102-4102. DOI: 10.1200/jco.2017.35.15_suppl.4102.Peer-Reviewed Original ResearchPathogenic germline alterationsPancreas cancerGermline testingPlatinum therapyOverall survivalMedian ageMSK-IMPACTPancreas cancer patientsCancer predisposition syndromeMedian OSBRCA mutationsGA carriersStage III/IVClinicopathological featuresGermline alterationsPredisposition syndromeTumor samplesPathogenic variantsCancer predispositionLonger TTPSomatic profilesBlood relativesTherapyProspective assessmentCancer
2016
How I Do It: Genetic counseling and genetic testing for inherited prostate cancer.
Giri V, Gross L, Gomella L, Hyatt C. How I Do It: Genetic counseling and genetic testing for inherited prostate cancer. Canadian Journal Of Urology 2016, 23: 8247-53. PMID: 27085833.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsProstate cancer patientsProstate cancerCancer patientsGenetic counselingProstate cancer risk assessmentGenetic testing guidelinesInherited prostate cancerHereditary cancer syndromesCancer risk assessmentProstate cancer predispositionFamily historyUrologic communityCancer syndromesCancerGenetic testingPatientsTesting guidelinesGenetic mutationsCounselingCancer predispositionUrologistsCurrent knowledgeSubstantial heritable componentGenetic contributionProviders
2012
Reducing Mitochondrial ROS Improves Disease-related Pathology in a Mouse Model of Ataxia-telangiectasia
D'Souza AD, Parish IA, Krause DS, Kaech SM, Shadel GS. Reducing Mitochondrial ROS Improves Disease-related Pathology in a Mouse Model of Ataxia-telangiectasia. Molecular Therapy 2012, 21: 42-48. PMID: 23011031, PMCID: PMC3538311, DOI: 10.1038/mt.2012.203.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAtaxia TelangiectasiaAtaxia Telangiectasia Mutated ProteinsCatalaseCD8-Positive T-LymphocytesCell Cycle ProteinsDisease Models, AnimalDNA-Binding ProteinsHematopoiesisImmunologic MemoryLymphomaMiceMice, KnockoutMitochondriaProtein Serine-Threonine KinasesReactive Oxygen SpeciesThymus NeoplasmsTumor Suppressor ProteinsConceptsMitochondrial reactive oxygen speciesReactive oxygen speciesAtaxia telangiectasiaT cell developmental defectsDNA damage responseDisease ataxia telangiectasiaMitochondrial ROS productionOverexpression of catalaseATM kinaseRedox sensingDevelopmental defectsLatter phenotypePartial rescueBone marrow hematopoiesisCancer predispositionNull mouse modelMitochondrial dysfunctionMacrophage differentiationTORC1ROS productionCancer developmentOxygen speciesMouse modelTS pathologyMarrow hematopoiesis
2003
Breast cancer biomarkers and molecular medicine
Ross JS, Linette GP, Stec J, Clark E, Ayers M, Leschly N, Symmans WF, Hortobagyi GN, Pusztai L. Breast cancer biomarkers and molecular medicine. Expert Review Of Molecular Diagnostics 2003, 3: 573-585. PMID: 14510178, DOI: 10.1586/14737159.3.5.573.Peer-Reviewed Original ResearchConceptsCell cycle regulatorsInvasion-associated proteinsTumor suppressor geneTranscription factorsTranscriptional profilingDNA repairGrowth factor receptorCell adhesion moleculeDrug resistance proteinsGenomic microarraysCycle regulatorsBreast cancer biomarkersPrognostic factorsApoptosis regulatorEpithelial growth factor receptorSuppressor geneHormone receptor proteinsBreast cancer predispositionCancer predispositionReceptor proteinCytogenetic markersResistance proteinBreast cancer prognostic factorsCancer biomarkersFactor receptor
2002
Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer
Spring K, Ahangari F, Scott SP, Waring P, Purdie DM, Chen PC, Hourigan K, Ramsay J, McKinnon PJ, Swift M, Lavin MF. Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. Nature Genetics 2002, 32: 185-190. PMID: 12195425, DOI: 10.1038/ng958.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAtaxia TelangiectasiaAtaxia Telangiectasia Mutated ProteinsCell Cycle ProteinsCell SurvivalChromosomesDNA-Binding ProteinsFemaleGamma RaysGenetic Predisposition to DiseaseHeterozygoteHumansMaleMiceMice, Inbred C57BLMutation, MissenseNeoplasmsPenetranceProtein Serine-Threonine KinasesTumor Suppressor ProteinsConceptsAtaxia telangiectasiaATM kinase activityDominant negative effectATM cDNAGenome instabilityHeterozygous miceRadiation-induced chromosomal aberrationsKinase activityCancer predispositionFrame deletionMutationsControl cellsGenesChromosomal aberrationsCellsCDNAMouse carriersDeletionMiceHeterozygous carriersAtmFirst timeExpressionFurther support
2001
Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit
Ranganathan V, Heine W, Ciccone D, Rudolph K, Wu X, Chang S, Hai H, Ahearn I, Livingston D, Resnick I, Rosen F, Seemanova E, Jarolim P, DePinho R, Weaver D. Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit. Current Biology 2001, 11: 962-966. PMID: 11448772, DOI: 10.1016/s0960-9822(01)00267-6.Peer-Reviewed Original ResearchConceptsNijmegen breakage syndromeNBS fibroblastsNBS patientsCatalytic subunitChromosome instabilityNijmegen breakage syndrome cellsDNA repair complexRare human diseasesTRF proteinsTelomere extensionNBS cellsTelomere endsRepair complexAccessory proteinsBreakage syndromeGrowth cessationHuman diseasesCancer predispositionLength defectsTelomeresPremature growth cessationProliferative capacitySubunitsProteinGamma irradiation damage
1997
Molecular basis of the nevoid basal cell carcinoma syndrome
Wicking C, Bale A. Molecular basis of the nevoid basal cell carcinoma syndrome. Current Opinion In Pediatrics 1997, 9: 630-635. PMID: 9425597, DOI: 10.1097/00008480-199712000-00013.Peer-Reviewed Original ResearchConceptsWidespread developmental defectsHereditary basal cell carcinomasDrosophila genesEmbryonic patterningCell fateEmbryonic developmentHuman homologueMolecular basisDevelopmental defectsTumor suppressorCancer predispositionGenesLoss of heterozygosityCell growthChromosome 9q22.3Basal cell carcinoma syndromeNevoid basal cell carcinoma syndromeMutationsAutosomal dominant disorderBirth defectsDrosophilaDominant disorderCarcinoma syndromeOrganogenesisHomologuesFamilial colorectal cancer in Ashkenazim due to a hypermutable tract in APC
Laken S, Petersen G, Gruber S, Oddoux C, Ostrer H, Giardiello F, Hamilton S, Hampel H, Markowitz A, Klimstra D, Jhanwar S, Winawer S, Offit K, Luce M, Kinzler K, Vogelstein B. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nature Genetics 1997, 17: 79-83. PMID: 9288102, DOI: 10.1038/ng0997-79.Peer-Reviewed Original ResearchConceptsHereditary non-polyposis colorectal cancerFamilial adenomatous polyposisNon-polyposis colorectal cancerDefective mismatch repair genesFamilial colorectal cancerColorectal cancerMismatch repair genesAdenomatous polyposisFamily historyTruncating APC mutationsAshkenazi JewsI cancerCancer predispositionAPC mutationsRepair genesUnited StatesAshkenazimCancerFamilial casesAshkenaziPolyposisEncode proteinsHypermutable regionFamilyGenes
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply