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 patients
2024
Context-aware single-cell multiomics approach identifies cell-type-specific lung cancer susceptibility genes
Long E, Yin J, Shin J, Li Y, Li B, Kane A, Patel H, Sun X, Wang C, Luong T, Xia J, Han Y, Byun J, Zhang T, Zhao W, Landi M, Rothman N, Lan Q, Chang Y, Yu F, Amos C, Shi J, Lee J, Kim E, Choi J. Context-aware single-cell multiomics approach identifies cell-type-specific lung cancer susceptibility genes. Nature Communications 2024, 15: 7995. PMID: 39266564, PMCID: PMC11392933, DOI: 10.1038/s41467-024-52356-9.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide association study lociSusceptibility genesLung cancer susceptibility genesTranscription factor footprintsChromatin accessibility mapsCis-regulatory elementsRisk-associated variantsRare cell typesRegulate gene expressionCell typesCell type-specificCancer susceptibility genesCausal variantsAssociation studiesGene regulationGene functionMultiomics approachTarget genesLociGene expressionGenesType-specificHuman lung cellsCCREs
2022
Mutation of breast cancer susceptibility genes increases cerebral microbleeds: A pilot study
Pope B, Wolcott Z, Castillo M, Jin J, Wong KH, Havenon A, Yaghi S, Goldstein ED. Mutation of breast cancer susceptibility genes increases cerebral microbleeds: A pilot study. Journal Of Stroke And Cerebrovascular Diseases 2022, 31: 106729. PMID: 36116220, DOI: 10.1016/j.jstrokecerebrovasdis.2022.106729.Peer-Reviewed Original ResearchConceptsCerebral small vessel diseaseCerebrovascular risk factorsBRCA mutationsCerebral microbleedsRisk factorsOdds ratioMarkers of CSVDBreast cancer susceptibility gene mutationsRetrospective cross-sectional analysisCancer susceptibility gene mutationsAdjusted odds ratioSmall vessel diseaseHosmer-Lemeshow testSusceptibility gene mutationsCross-sectional analysisLogistic regression modelsBreast cancer susceptibility genesVessel diseaseWildtype individualsBrain MRICancer susceptibility genesStudent's t-test analysisT-test analysisMalignancy evaluationClinical implications
2021
Surgical Management of Hereditary Breast Cancer
Berger ER, Golshan M. Surgical Management of Hereditary Breast Cancer. Genes 2021, 12: 1371. PMID: 34573353, PMCID: PMC8470490, DOI: 10.3390/genes12091371.Peer-Reviewed Original ResearchMeSH KeywordsAntineoplastic AgentsBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsChemopreventionFemaleGenetic Predisposition to DiseaseGenetic TestingHereditary Breast and Ovarian Cancer SyndromeHeterozygoteHumansMastectomyMutationPractice Guidelines as TopicProphylactic Surgical ProceduresSalpingo-oophorectomyConceptsHereditary breast cancerBreast cancerGenetic variant carriersSurgical risk reductionSurgical management optionsSurgical managementBreast/ovarian cancer susceptibility geneOvarian cancer susceptibility genesVariant carriersCancer susceptibility genesGenetic testingCancer treatmentCancerRisk reductionSusceptibility genesManagement optionsComparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome
Samadder N, Riegert-Johnson D, Boardman L, Rhodes D, Wick M, Okuno S, Kunze K, Golafshar M, Uson P, Mountjoy L, Ertz-Archambault N, Patel N, Rodriguez E, Lizaola-Mayo B, Lehrer M, Thorpe C, Yu N, Esplin E, Nussbaum R, Sharp R, Azevedo C, Klint M, Hager M, Macklin-Mantia S, Bryce A, Bekaii-Saab T, Sekulic A, Stewart A. Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome. JAMA Oncology 2021, 7: 230-237. PMID: 33126242, PMCID: PMC7600058, DOI: 10.1001/jamaoncol.2020.6252.Peer-Reviewed Original ResearchConceptsPrevalence of pathogenic germline variantsFamily variant testingPathogenic germline variantsSolid tumor cancersHigh-penetrance cancer susceptibility genesFamily history of cancerMayo Clinic Cancer CenterRisk-reducing interventionsUniversal genetic testingMultigene panel testingHigh-penetrance variantsHistory of cancerClinic Cancer CenterUniversal testing approachGermline variantsGuideline-directed approachYounger age of diagnosisTumor cancersCancer susceptibility genesClinically actionable findingsTargeted testingCancer screeningAge of diagnosisGermline testingVariant testing
2019
Analysis of Heritability and Genetic Architecture of Pancreatic Cancer: A PanC4 Study
Chen F, Childs EJ, Mocci E, Bracci P, Gallinger S, Li D, Neale RE, Olson SH, Scelo G, Bamlet WR, Blackford AL, Borges M, Brennan P, Chaffee KG, Duggal P, Hassan MJ, Holly EA, Hung RJ, Goggins MG, Kurtz RC, Oberg AL, Orlow I, Yu H, Petersen GM, Risch H, Klein AP. Analysis of Heritability and Genetic Architecture of Pancreatic Cancer: A PanC4 Study. Cancer Epidemiology Biomarkers & Prevention 2019, 28: 1238-1245. PMID: 31015203, PMCID: PMC6606380, DOI: 10.1158/1055-9965.epi-18-1235.Peer-Reviewed Original ResearchConceptsGWAS dataOverall heritabilityGenome-wide association study dataTotal phenotypic variationAssociation study dataPancreatic cancer susceptibility genesTotal phenotypic varianceAnalysis of heritabilityGWAS lociGenetic architectureFunctional annotationCancer susceptibility genesPhenotypic variationLoci accountPhenotypic varianceLinkage disequilibriumSusceptibility genesHeritabilityCommon variantsIntronic variantsEuropean ancestryGenesRare variantsMulticenter Prospective Cohort Study of the Diagnostic Yield and Patient Experience of Multiplex Gene Panel Testing For Hereditary Cancer Risk
Idos G, Kurian A, Ricker C, Sturgeon D, Culver J, Kingham K, Koff R, Chun N, Rowe-Teeter C, Lebensohn A, Levonian P, Lowstuter K, Partynski K, Hong C, Mills M, Petrovchich I, S. C, Hartman A, Allen B, Wenstrup R, Lancaster J, Brown K, Kidd J, Evans B, Mukherjee B, McDonnell K, Ladabaum U, Ford J, Gruber S. Multicenter Prospective Cohort Study of the Diagnostic Yield and Patient Experience of Multiplex Gene Panel Testing For Hereditary Cancer Risk. JCO Precision Oncology 2019, 3: po.18.00217. PMID: 34322651, PMCID: PMC8260917, DOI: 10.1200/po.18.00217.Peer-Reviewed Original ResearchMultiplex gene panel testProspective cohort studyGene panel testingPatient experiencePathogenic variantsDiagnostic yieldCohort studyNorris Comprehensive Cancer CenterHereditary cancer riskSocioeconomically diverse cohortComprehensive cancer centerPost-test surveysPanel testingCancer susceptibility genesMulticenter prospective cohort studyLos Angeles CountyUniversity of Southern California Medical CenterIdentified pathogenic variantsCancer riskSouthern California Medical CenterLess educationPatient regretProphylactic surgeryExpert clinical assessmentCalifornia Medical Center
2018
Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma
Panou V, Gadiraju M, Wolin A, Weipert C, Skarda E, Husain A, Patel J, Rose B, Zhang S, Weatherly M, Nelakuditi V, Knight Johnson A, Helgeson M, Fischer D, Desai A, Sulai N, Ritterhouse L, Røe O, Turaga K, Huo D, Segal J, Kadri S, Li Z, Kindler H, Churpek J. Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma. Journal Of Clinical Oncology 2018, 36: jco.2018.78.520. PMID: 30113886, PMCID: PMC6804864, DOI: 10.1200/jco.2018.78.5204.Peer-Reviewed Original ResearchConceptsCancer susceptibility genesMalignant mesotheliomaGermline mutationsSusceptibility genesSignificant proportion of patientsFrequency of germline mutationsAsbestos exposureCancer susceptibility mutationsHomologous recombination pathway genesGermline genetic testingProportion of patientsAssociated with decreased oddsNoncancer control populationCancer diagnosisPeritoneal MMBAP1 mutationsDNA damage sensingPleural sitesClinical predictorsHomologous recombination pathwayMM casesNext-generation sequencingGermline DNASusceptibility mutationsTumor sequencingReal-Time Genomic Characterization of Metastatic Pancreatic Neuroendocrine Tumors Has Prognostic Implications and Identifies Potential Germline Actionability.
Raj N, Shah R, Stadler Z, Mukherjee S, Chou J, Untch B, Li J, Kelly V, Saltz L, Mandelker D, Ladanyi M, Berger M, Klimstra D, Reidy-Lagunes D, Osoba M. Real-Time Genomic Characterization of Metastatic Pancreatic Neuroendocrine Tumors Has Prognostic Implications and Identifies Potential Germline Actionability. JCO Precision Oncology 2018, 2018: 1-18. PMID: 30687805, PMCID: PMC6345401, DOI: 10.1200/po.17.00267.Peer-Reviewed Original ResearchMemorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer TargetsNext-generation sequencingPancreatic neuroendocrine tumorsGermline genetic analysisLoss of heterozygosityMetastatic PanNETsNeuroendocrine tumorsHigh-penetrance cancer susceptibility genesPresence of loss of heterozygosityAdvanced pancreatic neuroendocrine tumorsMetastatic pancreatic neuroendocrine tumorsGenetic analysisSomatic loss of heterozygosityInferior overall survivalCancer susceptibility genesIncreasing tumor gradeTarget of rapamycin pathway genesRoutine clinical practice settingClonal evolution patternsMammalian target of rapamycin pathway genesChromatin remodeling factorsReal-time molecular profilingFrequent somatic mutationsClinical practice settingSequence of pre-Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer
Klein AP, Wolpin BM, Risch HA, Stolzenberg-Solomon RZ, Mocci E, Zhang M, Canzian F, Childs EJ, Hoskins JW, Jermusyk A, Zhong J, Chen F, Albanes D, Andreotti G, Arslan AA, Babic A, Bamlet WR, Beane-Freeman L, Berndt SI, Blackford A, Borges M, Borgida A, Bracci PM, Brais L, Brennan P, Brenner H, Bueno-de-Mesquita B, Buring J, Campa D, Capurso G, Cavestro GM, Chaffee KG, Chung CC, Cleary S, Cotterchio M, Dijk F, Duell EJ, Foretova L, Fuchs C, Funel N, Gallinger S, M. Gaziano JM, Gazouli M, Giles GG, Giovannucci E, Goggins M, Goodman GE, Goodman PJ, Hackert T, Haiman C, Hartge P, Hasan M, Hegyi P, Helzlsouer KJ, Herman J, Holcatova I, Holly EA, Hoover R, Hung RJ, Jacobs EJ, Jamroziak K, Janout V, Kaaks R, Khaw KT, Klein EA, Kogevinas M, Kooperberg C, Kulke MH, Kupcinskas J, Kurtz RJ, Laheru D, Landi S, Lawlor RT, Lee I, LeMarchand L, Lu L, Malats N, Mambrini A, Mannisto S, Milne RL, Mohelníková-Duchoňová B, Neale RE, Neoptolemos JP, Oberg AL, Olson SH, Orlow I, Pasquali C, Patel AV, Peters U, Pezzilli R, Porta M, Real FX, Rothman N, Scelo G, Sesso HD, Severi G, Shu XO, Silverman D, Smith JP, Soucek P, Sund M, Talar-Wojnarowska R, Tavano F, Thornquist MD, Tobias GS, Van Den Eeden SK, Vashist Y, Visvanathan K, Vodicka P, Wactawski-Wende J, Wang Z, Wentzensen N, White E, Yu H, Yu K, Zeleniuch-Jacquotte A, Zheng W, Kraft P, Li D, Chanock S, Obazee O, Petersen GM, Amundadottir LT. Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer. Nature Communications 2018, 9: 556. PMID: 29422604, PMCID: PMC5805680, DOI: 10.1038/s41467-018-02942-5.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Pancreatic DuctalDatabases, GeneticGenetic Predisposition to DiseaseGenome-Wide Association StudyHepatocyte Nuclear Factor 1-betaHepatocyte Nuclear Factor 4HumansIntercellular Signaling Peptides and ProteinsIntracellular Signaling Peptides and ProteinsPancreatic NeoplasmsPolymorphism, Single NucleotideProteinsRepressor ProteinsTensinsConceptsNew genome-wide significant lociGenome-wide significant lociExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisPANcreatic Disease ReseArch (PANDoRA) consortiumNew susceptibility lociPancreatic cancer susceptibility genesCommon susceptibility allelesCancer susceptibility genesSignificant lociPancreatic Cancer Case-Control ConsortiumMolecular supportPancreatic Cancer Cohort ConsortiumLocus analysisSusceptibility lociSusceptibility genesSusceptibility allelesEuropean ancestryNovel associationsLociPancreatic cancerConsortiumGWASGenesAlleles
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 genesGermline Variants in Targeted Tumor Sequencing Using Matched Normal DNA
Schrader K, Cheng D, Joseph V, Prasad M, Walsh M, Zehir A, Ni A, Thomas T, Benayed R, Ashraf A, Lincoln A, Arcila M, Stadler Z, Solit D, Hyman D, Zhang L, Klimstra D, Ladanyi M, Offit K, Berger M, Robson M. Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. JAMA Oncology 2016, 2: 1-8. PMID: 26556299, PMCID: PMC5477989, DOI: 10.1001/jamaoncol.2015.5208.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBiomarkers, TumorDNA Mutational AnalysisFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGerm-Line MutationHumansMaleMiddle AgedModels, GeneticNeoplasmsNew York CityPhenotypePrecision MedicinePredictive Value of TestsPrognosisRisk AssessmentRisk FactorsConceptsTumor-normal sequencingPathogenic germline variantsGermline variantsAdvanced cancer diagnosisClinical tumor sequencingCancer susceptibility genesTumor sequencingMemorial Sloan Kettering Cancer CenterStudies of targeted agentsIndividual cancer typesTumor genetic sequencingGermline findingsProportion of individualsTumor-specific variantsMendelian disease genesTargetable genetic alterationsCancer susceptibilityMatched normal DNACancer diagnosisTargeted tumor sequencingSingle-gene disordersCancer CenterMSK-IMPACTTumor profilingSomatic alterations
2012
PTHrP and breast cancer: more than hypercalcemia and bone metastases
Boras-Granic K, Wysolmerski JJ. PTHrP and breast cancer: more than hypercalcemia and bone metastases. Breast Cancer Research 2012, 14: 307. PMID: 22546075, PMCID: PMC3446368, DOI: 10.1186/bcr3129.BooksConceptsBone metastasesBreast cancerMMTV-PyMT miceNormal breast developmentPrimary breast tumorsHormone-related proteinBreast cancer susceptibility genesNew breast cancer susceptibility genesCancer patientsPrimary tumorCancer susceptibility genesClinical investigationBreast developmentBreast tumorsTumor growthPTHrPMetastasisHypercalcemiaTumorsCancerSusceptibility genesFurther researchPatientsMice
2010
Purified human BRCA2 stimulates RAD51-mediated recombination
Jensen RB, Carreira A, Kowalczykowski SC. Purified human BRCA2 stimulates RAD51-mediated recombination. Nature 2010, 467: 678-683. PMID: 20729832, PMCID: PMC2952063, DOI: 10.1038/nature09399.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid MotifsApoptosis Regulatory ProteinsBRCA2 ProteinCell Cycle ProteinsCell LineChromosomal InstabilityDNADNA RepairDNA-Binding ProteinsDNA, Single-StrandedHumansMutationProtein BindingRad51 RecombinaseRecombination, GeneticReplication Protein ASequence Homology, Nucleic AcidSubstrate SpecificityConceptsHuman BRCA2Assembly of RAD51Rad51-ssDNA filamentRecombinational DNA repairDNA repair processesBreast cancer susceptibility genesRepair processReplication proteinsCancer susceptibility genesSsDNA annealingBind RAD51Homologous recombinationDNA repairMolecular basisATP hydrolysisRAD51Large proteinsChromosomal instabilitySusceptibility genesMechanistic insightsKey mediatorProteinDNAMutationsBRCA2
2003
Genome‐wide scan for prostate cancer susceptibility genes using families from the University of Michigan prostate cancer genetics project finds evidence for linkage on chromosome 17 near BRCA1
Lange E, Gillanders E, Davis C, Brown W, Campbell J, Jones M, Gildea D, Riedesel E, Albertus J, Freas‐Lutz D, Markey C, Giri V, Dimmer J, Montie J, Trent J, Cooney K. Genome‐wide scan for prostate cancer susceptibility genes using families from the University of Michigan prostate cancer genetics project finds evidence for linkage on chromosome 17 near BRCA1. The Prostate 2003, 57: 326-334. PMID: 14601029, DOI: 10.1002/pros.10307.Peer-Reviewed Original ResearchConceptsProstate cancer susceptibility genesCancer susceptibility genesSusceptibility genesCandidate genesGenome-wide scan dataGenome-wide analysisChromosome 17Michigan Prostate Cancer Genetics ProjectWhole-genome analysisCancer candidate genesProstate Cancer Genetics ProjectSubset of pedigreesStratified linkage analysesPrevious linkage studiesGenome analysisLinkage scanChromosome 1Genetic markersLinkage analysisAffected individualsGenesLinkage regionGenetics ProjectChromosome 17qProstate cancer families
2002
Oral Contraceptives and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers
Narod S, Dubé M, Klijn J, Lubinski J, Lynch H, Ghadirian P, Provencher D, Heimdal K, Moller P, Robson M, Offit K, Isaacs C, Weber B, Friedman E, Gershoni-Baruch R, Rennert G, Pasini B, Wagner T, Daly M, Garber J, Neuhausen S, Ainsworth P, Olsson H, Evans G, Osborne M, Couch F, Foulkes W, Warner E, Kim-Sing C, Olopade O, Tung N, Saal H, Weitzel J, Merajver S, Gauthier-Villars M, Jernstrom H, Sun P, Brunet J. Oral Contraceptives and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers. Journal Of The National Cancer Institute 2002, 94: 1773-1779. PMID: 12464649, DOI: 10.1093/jnci/94.23.1773.Peer-Reviewed Original ResearchConceptsRisk of breast cancerIncreased risk of breast cancerBRCA1 mutation carriersBRCA2 mutation carriersMutation carriersOral contraceptive useBRCA2 carriersAssociated with risk of breast cancerIncreased riskRisk of early-onset breast cancerIncreased risk of early-onset breast cancerBreast cancerOdds ratioOral contraceptivesHistory of ovarian cancerEarly-onset breast cancerConfidence intervalsConditional logistic regressionBreast cancer susceptibility genesAssociated with riskYear of birthCancer susceptibility genesContraceptive useCase-control studyPairs of women
1994
Hereditary and familial ovarian cancer in southern ontario
Narod S, Madlensky L, Tonin P, Bradley L, Rosen B, Cole D, Risch H. Hereditary and familial ovarian cancer in southern ontario. Cancer 1994, 74: 2341-2346. PMID: 7922985, DOI: 10.1002/1097-0142(19941015)74:8<2341::aid-cncr2820740819>3.0.co;2-z.Peer-Reviewed Original ResearchConceptsOvarian cancerBreast cancerBreast-ovarian cancer syndromeFirst-degree female relativesHereditary breast-ovarian cancerHereditary ovarian cancerPositive family historyCases of cancerPoint nine percentFamilial ovarian cancerBreast-ovarian cancerCommon hereditary formOvarian cancer familiesIncident casesCancer casesFamily historyUnselected casesCancer susceptibility genesHigh riskCancer syndromesHereditary formsCancerTelephone interviewsCancer familiesSimple questionnaire
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