Nicholas Moore, MD
Assistant Professor of Therapeutic RadiologyAbout
Research
Publications
2024
Integrative Analysis of Germline Rare Variants in Clear and Non–clear Cell Renal Cell Carcinoma
Han S, Camp S, Chu H, Collins R, Gillani R, Park J, Bakouny Z, Ricker C, Reardon B, Moore N, Kofman E, Labaki C, Braun D, Choueiri T, AlDubayan S, Van Allen E. Integrative Analysis of Germline Rare Variants in Clear and Non–clear Cell Renal Cell Carcinoma. European Urology Open Science 2024, 62: 107-122. PMID: 38496821, PMCID: PMC10940785, DOI: 10.1016/j.euros.2024.02.006.Peer-Reviewed Original ResearchCopy number variantsGermline pathogenic variantsCryptic splice variantsNon-clear cell renal cell carcinomaCell renal cell carcinomaRare inherited mutationsRenal cell carcinomaPathogenic variantsSomatic eventsPopulation stratificationRisk of kidney cancerAge of cancer onsetGermline copy number variantsSplice variantsBurden of pathogenic variantsCell carcinomaEstimation of genetic riskRenal cell carcinoma riskRCC patientsCancer-free controlsCase-control analysisCase-control studyRenal cell carcinoma patientsClear cell renal cell carcinomaGermline rare variants
2022
Characteristics of Rare Germline ATM Variants in Chronic Lymphocytic Leukemia (CLL)
Mashima K, Lampson B, Gupta A, Moore N, Petrackova A, Shupe S, Fernandes S, Taylor-Weiner A, Gillani R, Chu H, Han S, Camp S, Kofman E, Getz G, Wu C, Van Allen E, AlDubayan S, Brown J. Characteristics of Rare Germline ATM Variants in Chronic Lymphocytic Leukemia (CLL). Blood 2022, 140: 9853-9854. DOI: 10.1182/blood-2022-167009.Peer-Reviewed Original Research
2021
Integrating molecular profiles into clinical frameworks through the Molecular Oncology Almanac to prospectively guide precision oncology
Reardon B, Moore N, Moore N, Kofman E, AlDubayan S, Cheung A, Conway J, Elmarakeby H, Imamovic A, Kamran S, Keenan T, Keliher D, Konieczkowski D, Liu D, Mouw K, Park J, Vokes N, Dietlein F, Van Allen E. Integrating molecular profiles into clinical frameworks through the Molecular Oncology Almanac to prospectively guide precision oncology. Nature Cancer 2021, 2: 1102-1112. PMID: 35121878, PMCID: PMC9082009, DOI: 10.1038/s43018-021-00243-3.Peer-Reviewed Original ResearchConceptsMolecular profilingAssociated with clinical outcomesIdentified therapeutic strategiesTumor molecular profilingIndividual's molecular profileMolecular featuresGenomic dataOpen-source computational methodClinical outcomesRetrospective cohortTrial cohortGenomic alterationsTherapeutic strategiesTherapeutic approachesPoint-of-care decision makingPrecision oncologyGlobal molecular featuresPatientsClinical hypothesisCohortClinical frameworkKnowledge basesAlterations
2020
Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma
AlDubayan S, Conway J, Camp S, Witkowski L, Kofman E, Reardon B, Han S, Moore N, Elmarakeby H, Salari K, Choudhry H, Al-Rubaish A, Al-Sulaiman A, Al-Ali A, Taylor-Weiner A, Van Allen E. Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma. JAMA: The Journal Of The American Medical Association 2020, 324: 1957-1969. PMID: 33201204, PMCID: PMC7672519, DOI: 10.1001/jama.2020.20457.Peer-Reviewed Original ResearchMeSH KeywordsCross-Sectional StudiesDeep LearningDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHigh-Throughput Nucleotide SequencingHumansMaleMelanomaMiddle AgedNeural Networks, ComputerPredictive Value of TestsProstatic NeoplasmsSensitivity and SpecificityConceptsAmerican College of Medical Genetics and GenomicsGermline genetic testingCancer predisposition genesDetection of pathogenic variantsVariant detection performanceACMG genesNegative predictive valuePositive predictive valuePathogenic variantsGenetic testingProstate cancer cohortCriterion reference standardVariant detectionMendelian genesProstate cancerCancer cohortGermline pathogenic variantsCross-sectional studyGenetic testing methodsGermline variant detectionMelanoma cohortPathogenic germline alterationsMain OutcomesConvenience cohortClinical data collection
2019
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma
Nassar A, Abou Alaiwi S, AlDubayan S, Moore N, Mouw K, Kwiatkowski D, Choueiri T, Curran C, Berchuck J, Harshman L, Nuzzo P, Chanza N, Van Allen E, Esplin E, Yang S, Callis T, Garber J, Rana H, Sonpavde G. Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. Genetics In Medicine 2019, 22: 709-718. PMID: 31844177, PMCID: PMC7118025, DOI: 10.1038/s41436-019-0720-x.Peer-Reviewed Original ResearchConceptsPathogenic germline variantsUrothelial carcinomaGermline variantsUC patientsPathogenic variantsCumulative frequency of patientsHigh-risk urothelial carcinomaGermline risk variantsHigh-risk UCCancer risk variantsFrequency of germlineDNA damage repair genesRepair genesRisk variantsFrequency of patientsVariant enrichmentCancer-free cohortCancer-free individualsUC risk genesClinically actionable variantsDNA repair genesPredisposition genesUC cohortGermline testingPatientsPS1132 INHERITED DNA REPAIR AND CELL CYCLE GENE DEFECTS IN CHRONIC LYMPHOCYTIC LEUKEMIA
Moore N, Aldubayan S, Taylor‐Weiner A, Stilgenbauer S, Getz G, Wu C, Van Allen E, Brown J. PS1132 INHERITED DNA REPAIR AND CELL CYCLE GENE DEFECTS IN CHRONIC LYMPHOCYTIC LEUKEMIA. HemaSphere 2019, 3: 512-513. DOI: 10.1097/01.hs9.0000562812.55861.d4.Peer-Reviewed Original ResearchChronic lymphocytic leukemia patientsCell cycle genesChronic lymphocytic leukemiaDNA repairCycle genesVariant calling algorithmsCell cycle regulation pathwaysGenetically distinct cohortsLymphocytic leukemiaPathogenic ATM mutationQ-value <Calling algorithmsCHEK2 alterationsMutation enrichmentVariant enrichmentRisk genesPredisposition genesRegulation pathwaysMutation enrichment analysisCancer-free controlsEnrichment analysisATM mutationsGenesCase-control analysisCancer-free individualsInherited DNA repair and cell cycle gene defects in chronic lymphocytic leukemia.
Moore N, Aldubayan S, Taylor-Weiner A, Stilgenbauer S, Getz G, Wu C, Van Allen E, Brown J. Inherited DNA repair and cell cycle gene defects in chronic lymphocytic leukemia. Journal Of Clinical Oncology 2019, 37: 1508-1508. DOI: 10.1200/jco.2019.37.15_suppl.1508.Peer-Reviewed Original ResearchCell cycle genesChronic lymphocytic leukemia patientsDNA repairChronic lymphocytic leukemiaCycle genesVariant calling algorithmsCell cycle regulation pathwaysGenetically distinct cohortsPathogenic ATM mutationQ-value <Lymphocytic leukemiaCalling algorithmsCHEK2 alterationsMutation enrichmentVariant enrichmentRisk genesPredisposition genesRegulation pathwaysMutation enrichment analysisEnrichment analysisATM mutationsCancer-free controlsGenesGenetic heritabilityCase-control analysis
Clinical Care
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Clinical Specialties
Therapeutic Radiology; Gastrointestinal Radiotherapy; Pediatric Radiotherapy; Prostate & Genitourinary Radiotherapy; Head & Neck Radiotherapy
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Therapeutic Radiology
35 Park St, LL
New Haven, CT 06519
United States
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15 York Street, Rm 138
New Haven, CT 06510
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