2025
Genetics and family history in a diverse cohort of females with early-onset breast cancer.
Shroff T, Proussaloglou E, Namboodiri A, Gross L, Gong G, Wei W, Giri V. Genetics and family history in a diverse cohort of females with early-onset breast cancer. Journal Of Clinical Oncology 2025, 43: 10613-10613. DOI: 10.1200/jco.2025.43.16_suppl.10613.Peer-Reviewed Original ResearchEarly-onset breast cancerFamily historyGenetic testingEarly-onset breast cancer riskFamily history of breast cancerClinical careFamily history of cancerHistory of breast cancerFamily history of breastDiverse cohortBreast cancerCancer genetics programPrevalence of pathogenic/likely pathogenic variantsWhite patientsGermline genetic testingDiverse racial/ethnic populationsGenetic test resultsComprehensive cancer centerBreast cancer susceptibility genesElectronic medical recordsCancer predisposition genesAshkenazi Jewish ancestryDiverse patient populationsCancer susceptibility genesDiverse cohort of patientsThe effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers
Goldstein O, Shani S, Gana-Weisz M, Elkoshi N, Casey F, Sun Y, Chandratre K, Cedarbaum J, Blauwendraat C, Bar-Shira A, Thaler A, Gurevich T, Mirelman A, Giladi N, Orr-Urtreger A, Alcalay R. The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers. Journal Of Parkinson’s Disease 2025, 15: 291-299. PMID: 39973498, DOI: 10.1177/1877718x241310722.Peer-Reviewed Original ResearchPolygenic risk scoresPolygenic risk score modelPolygenic risk score associationsLRRK2 G2019S carriersGenetic risk factorsPD riskNon-carriersGenetic groupsDisease riskRisk scoreLRRK2 G2019SRisk factorsEffect of polygenic risk scoresGenetically complex conditionsCalculate polygenic risk scoresG2019S carriersElevated PRSAssessed PD riskAssociated with increased PD riskAshkenazi Jewish ancestryAssociated with PD riskModify disease riskGenotype callsGBA1 variantsLRRK2-G2019S-PD
2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry
Rabin R, Hirsch Y, Booth K, Hall P, Yachelevich N, Mistry P, Ekstein J, Pappas J. ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry. American Journal Of Medical Genetics Part A 2024, 197: e63919. PMID: 39473378, DOI: 10.1002/ajmg.a.63919.Peer-Reviewed Original ResearchIndividuals of Ashkenazi Jewish descentAshkenazi Jewish descentARSA geneIndividuals of Ashkenazi Jewish ancestryFounder variantAshkenazi Jewish populationJewish descentAshkenazi Jewish ancestryBi-allelic pathogenic variantsCompound heterozygous stateNeurodegenerative lysosomal storage diseaseGait abnormalitiesPhysical declineScreening programProtein modelsMetachromatic leukodystrophyPathogenic variantsJewish ancestryCompound heterozygosityLysosomal storage diseaseGenesArsAHeterozygous stateSevere phenotypeLate infantile metachromatic leukodystrophy
2023
Racial, ethnic, and sex-based disparities among high-risk individuals undergoing pancreatic cancer surveillance.
Klute K, Lucas A, Brand R, Everett J, Farrell J, Hawthorne K, Kaul V, Kupfer S, Paiella S, Simeone D, Sussman D, Zogopoulos G, Kastrinos F, Katona B, Consortium A. Racial, ethnic, and sex-based disparities among high-risk individuals undergoing pancreatic cancer surveillance. Journal Of Clinical Oncology 2023, 41: 687-687. DOI: 10.1200/jco.2023.41.4_suppl.687.Peer-Reviewed Original ResearchHigh-risk individualsSex-based disparitiesFamilial pancreatic cancerPDAC surveillancePancreatic cancer surveillancePeutz-Jeghers syndromeRates of consentSex-based differencesMedian ageAshkenazi Jewish ancestryMulticenter studyProspective studyCancer surveillancePancreatic cancerFamily historyLarge cohortMelanoma syndromeHereditary pancreatitisEarly detection researchStudy participantsEarly detectionStudy periodGermline DNACohortPDAC
2022
Technology-enhanced AcceleRation of Germline Evaluation for Therapy (TARGET): A randomized controlled trial of a pretest patient-driven webtool vs. genetic counseling for prostate cancer germline testing
Loeb S, Cheng H, Leader A, Gross L, Nolasco T, Byrne N, Wise D, Hollifield L, Brown L, Slater E, Pieczonka C, Gomella L, Kelly W, Trabulsi E, Handley N, Lallas C, Chandrasekar T, Mille P, Mann M, Mark J, Brown G, Chopra S, Wasserman J, Phillips J, Somers P, Giri V. Technology-enhanced AcceleRation of Germline Evaluation for Therapy (TARGET): A randomized controlled trial of a pretest patient-driven webtool vs. genetic counseling for prostate cancer germline testing. Contemporary Clinical Trials 2022, 119: 106821. PMID: 35710085, DOI: 10.1016/j.cct.2022.106821.Peer-Reviewed Original ResearchConceptsKey patient-reported outcomesGermline testingPatient-reported outcomesProstate cancerGenetic counselingCollaborative care strategiesProstate cancer careTwo-armed randomizedProstate Cancer FoundationEducation/counselingGermline evaluationGOV IDENTIFIERPrimary outcomeSecondary outcomesStudy armsTarget enrollmentAshkenazi Jewish ancestryCancer careFamily historyTumor featuresCancer FoundationCare strategiesDecisional conflictUS sitesPractice settingseP206: Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry
Pappas J, Rabin R, Mistry P, Hirsch Y, Yachelevich N. eP206: Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry. Genetics In Medicine 2022, 24: s127-s128. DOI: 10.1016/j.gim.2022.01.242.Peer-Reviewed Original Research
2021
Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource
Iwaki H, Leonard H, Makarious M, Bookman M, Landin B, Vismer D, Casey B, Gibbs J, Hernandez D, Blauwendraat C, Vitale D, Song Y, Kumar D, Dalgard C, Sadeghi M, Dong X, Misquitta L, Scholz S, Scherzer C, Nalls M, Biswas S, Singleton A, Associates U, Group A, consortium A. Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource. Movement Disorders 2021, 36: 1795-1804. PMID: 33960523, PMCID: PMC8453903, DOI: 10.1002/mds.28549.Peer-Reviewed Original ResearchConceptsWhole-genome sequencing dataSequence dataAnalysis of whole-genome sequencing dataParkinson's Disease programPolygenic risk scoresDiagnosis of participantsIdiopathic PD groupAshkenazi Jewish ancestryEvidence of dopamine deficitRNA expression dataDemocratize data accessDisease programsExpression dataCohort studyGBA variantsRisk scoreJoint genotypesPathogenic variantsPD research communityParkinson's diseaseGenetic componentLRRK2 variantsJewish ancestryPD subjectsCohort
2020
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
Daly M, Pilarski R, Yurgelun M, Berry M, Buys S, Dickson P, Domchek S, Elkhanany A, Friedman S, Garber J, Goggins M, Hutton M, Khan S, Klein C, Kohlmann W, Kurian A, Laronga C, Litton J, Mak J, Menendez C, Merajver S, Norquist B, Offit K, Pal T, Pederson H, Reiser G, Shannon K, Visvanathan K, Weitzel J, Wick M, Wisinski K, Dwyer M, Darlow S. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. Journal Of The National Comprehensive Cancer Network 2020, 18: 380-391. PMID: 32259785, DOI: 10.6004/jnccn.2020.0017.Peer-Reviewed Original ResearchConceptsGenetic/Familial High-Risk AssessmentHigh-risk assessmentGenetic testingNCCN Guidelines InsightsHereditary cancer syndromesHigh-penetrance genesNCCN panelNCCN guidelinesSystemic therapyAshkenazi Jewish ancestryMost recent recommendationsRelevant new dataPancreatic cancerOvarian cancerCancer syndromesRecent recommendationsCancerBreastSyndromeOvarianManagement recommendationsJewish ancestryRisk management recommendations
2018
Use and Patient-Reported Outcomes of Clinical Multigene Panel Testing for Cancer Susceptibility in the Multicenter Communication of Genetic Test Results by Telephone Study.
Hall M, Patrick-Miller L, Egleston B, Domchek S, Daly M, Ganschow P, Grana G, Olopade O, Fetzer D, Brandt A, Chambers R, Clark D, Forman A, Gaber R, Gulden C, Horte J, Long J, Lucas T, Madaan S, Mattie K, McKenna D, Montgomery S, Nielsen S, Powers J, Rainey K, Rybak C, Savage M, Seelaus C, Stoll J, Stopfer J, Yao X, Bradbury A. Use and Patient-Reported Outcomes of Clinical Multigene Panel Testing for Cancer Susceptibility in the Multicenter Communication of Genetic Test Results by Telephone Study. JCO Precision Oncology 2018, 2: 1-12. PMID: 31819920, PMCID: PMC6901130, DOI: 10.1200/po.18.00199.Peer-Reviewed Original ResearchMultigene panel testingCommunication of genetic test resultsGenetic test resultsPatient-reported outcomesCancer-specific distressMultigene panelsGenetics providersState anxietyDisclosure of genetic test resultsTelephone studyCancer genetic testingIn-person disclosureHistory of cancerTargeted testingAshkenazi Jewish ancestryIn-personDemographic adjustmentCancer susceptibilityPre-disclosureGenetic knowledgeGenetic testingGenetic counselingLower anxietyJewish ancestryTelephone
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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