2023
Women with pathogenic variants in moderate penetrance breast cancer genes: How frequently do they meet high penetrance genetic testing criteria?
Casasanta N, Soper E, Abul-Husn N. Women with pathogenic variants in moderate penetrance breast cancer genes: How frequently do they meet high penetrance genetic testing criteria? Journal Of Clinical Oncology 2023, 41: 10584-10584. DOI: 10.1200/jco.2023.41.16_suppl.10584.Peer-Reviewed Original ResearchGenetic testing criteriaNational Comprehensive Cancer Network criteriaNational Comprehensive Cancer NetworkBreast cancer genesClinical genetic testingGenetic testingPersonal historyPenetrance breast cancer genesBreast cancerPersonal history of breast cancerMP geneGenetic riskModerate penetranceBreast cancer predisposition genesCancer genetic testingCancer genesElectronic medical record reviewHigh-penetrance genesPathogenic variantsMedical record reviewGermline pathogenic variantsCancer predisposition genesAssociated with germline pathogenic variantsManagement of individualsComprehensive Cancer Network
2022
The PRECEDE consortium: A longitudinal international cohort study of individuals with genetic risk or familial pancreatic cancer.
Zogopoulos G, Bi Y, Brand R, Chung D, Earl J, Farrell J, Graff J, Kastrinos F, Katona B, Klute K, Koptiuch C, Kupfer S, Kwon R, Lindberg J, Lowy A, Lucas A, Paiella S, Permuth J, Sears R, Simeone D, Consortium T. The PRECEDE consortium: A longitudinal international cohort study of individuals with genetic risk or familial pancreatic cancer. Journal Of Clinical Oncology 2022, 40: e16239-e16239. DOI: 10.1200/jco.2022.40.16_suppl.e16239.Peer-Reviewed Original ResearchPancreatic ductal adenocarcinomaPathogenic germline variantsFamilial pancreatic cancerCancer predisposition genesCohort studyPancreatic cancerClinical dataAnnual surveillanceEffective early detection strategiesHigh-quality clinical dataHigh-risk premalignant lesionsModifiers of riskInternational cohort studyProspective cohort studyEarly-stage diseaseOverall survival rateEarly detection strategiesEarly-stage cancerBlood sample collectionRelevant clinical populationContribution of heritabilityPenetrance of diseaseQuality clinical dataParticipants ages 18Germline testing
2020
Germline cancer predisposition variants and pediatric glioma: a population-based study in California
Muskens IS, de Smith AJ, Zhang C, Hansen HM, Morimoto L, Metayer C, Ma X, Walsh KM, Wiemels JL. Germline cancer predisposition variants and pediatric glioma: a population-based study in California. Neuro-Oncology 2020, 22: 864-874. PMID: 31970404, PMCID: PMC7283023, DOI: 10.1093/neuonc/noaa014.Peer-Reviewed Original ResearchConceptsCancer predisposition genesPathogenic germline variantsPathogenic variantsGermline variantsNeurofibromatosis 1Pediatric astrocytomasCandidate cancer predisposition genesPredisposition genesGene burden testingPediatric glioblastomaPediatric cancer predispositionMalignant pediatric brain tumorTertiary referral centerPopulation-based studyPediatric brain tumorsCancer predisposition variantsPediatric glioma patientsRare germline variantsTumor protein 53Whole-exome sequencingExome-wide levelReferral centerAstrocytoma patientsGlioma patientsBrain tumors
2019
HGG-11. GERMLINE GENETIC PREDISPOSITION TO PEDIATRIC GLIOMA
Muskens I, Walsh K, Zhang C, de Smith A, Morimoto L, Ma X, Wiemels J. HGG-11. GERMLINE GENETIC PREDISPOSITION TO PEDIATRIC GLIOMA. Neuro-Oncology 2019, 21: ii89-ii89. PMCID: PMC6477444, DOI: 10.1093/neuonc/noz036.105.Peer-Reviewed Original ResearchPediatric glioma patientsGBM patientsGene burden testingGlioma patientsPediatric gliomasPediatric brain tumorsPathogenic germline mutationsPopulation-based sampling strategyGermline genetic predispositionCancer predisposition genesRare germline variantsWhole-exome sequencingTreatment strategiesPractice guidelinesBest practice guidelinesBrain tumorsGenetic predispositionCancer-related genesPatientsTP53 mutationsTP53 variantsGlioma riskFrameshift mutationBlood spotsNonsense mutation
2018
Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms
Lowery M, Wong W, Jordan E, Lee J, Kemel Y, Vijai J, Mandelker D, Zehir A, Capanu M, Salo-Mullen E, Arnold A, Yu K, Varghese A, Kelsen D, Brenner R, Kaufmann E, Ravichandran V, Mukherjee S, Berger M, Hyman D, Klimstra D, Abou-Alfa G, Tjan C, Covington C, Maynard H, Allen P, Askan G, Leach S, Iacobuzio-Donahue C, Robson M, Offit K, Stadler Z, O’Reilly E. Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms. Journal Of The National Cancer Institute 2018, 110: 1067-1074. PMID: 29506128, PMCID: PMC6186514, DOI: 10.1093/jnci/djy024.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overAllelesAntineoplastic AgentsAntineoplastic Combined Chemotherapy ProtocolsBiomarkers, TumorFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGerm-Line MutationHeterozygoteHumansKaplan-Meier EstimateLoss of HeterozygosityMaleMiddle AgedPancreas, ExocrinePancreatic NeoplasmsConceptsPathogenic germline alterationsExocrine pancreatic neoplasmsOverall survivalGermline testingGermline alterationsPancreatic neoplasmsHereditary cancer predisposition genesInstitutional review board-approved protocolProspective cohort of patientsTherapeutic implicationsHereditary pancreatic cancerCancer predisposition genesBoard-approved protocolResponse to platinumCohort of patientsKaplan-Meier curvesLoss of heterozygosityPotential therapeutic implicationsMedian OSPredisposition genesSomatic tumorsExocrine neoplasmsPredictive biomarkersCancer susceptibilityPancreas cancer
2017
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing
Mandelker D, Zhang L, Kemel Y, Stadler Z, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh M, Li Y, Balakrishnan A, Syed A, Prasad M, Nafa K, Carlo M, Cadoo K, Sheehan M, Fleischut M, Salo-Mullen E, Trottier M, Lipkin S, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila M, Benayed R, Shah R, Yu K, Bajorin D, Coleman J, Leach S, Lowery M, Garcia-Aguilar J, Kantoff P, Sawyers C, Dickler M, Saltz L, Motzer R, O’Reilly E, Scher H, Baselga J, Klimstra D, Solit D, Hyman D, Berger M, Ladanyi M, Robson M, Offit K. Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. JAMA 2017, 318: 825-835. PMID: 28873162, PMCID: PMC5611881, DOI: 10.1001/jama.2017.11137.Peer-Reviewed Original ResearchConceptsGenetic test resultsHigh-penetrance mutationsClinical guidelinesAdvanced cancerGermline testingCancer genetic testingPotential clinical implicationsCancer predisposition genesTumor-normal sequencingAssociated with increased detectionMutation detectionGermline sequencesGuideline-based testingPublished decision rulesCancer screeningFrequency of inherited mutationsGermline findingsPreventive interventionsMain OutcomesMemorial Sloan Kettering Cancer CenterCase-mixStage IV diseasePredisposition genesClinically actionable mutationsFamily history
2016
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE. Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. Journal Of Clinical Oncology 2016, 34: 1460-1468. PMID: 26976419, PMCID: PMC4872307, DOI: 10.1200/jco.2015.65.0747.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge FactorsAgedAged, 80 and overBreast NeoplasmsFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticGenes, BRCA1Genes, BRCA2Genetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHigh-Throughput Nucleotide SequencingHumansJewsMiddle AgedNeoplasm StagingOvarian NeoplasmsPredictive Value of TestsPrevalenceProspective StudiesRetrospective StudiesRisk FactorsTriple Negative Breast NeoplasmsConceptsCancer predisposition genesTriple-negative breast cancerBreast cancer predisposition genesBreast cancerPredisposition genesGermline mutationsOvarian cancerNext-generation sequencingBRCA1/2 mutationsCancer susceptibility genesSingle cancer centerFamily cancer historyBreast/ovarian cancerOvarian cancer predisposition genesPredictors of mutationsSusceptibility genesSelect patientsSequential patientsAshkenazi Jewish ancestryCancer CenterCancer historyClinical managementFamily historyBreast/ovarian cancer susceptibility geneOvarian cancer susceptibility genes
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