2022
Prevalence of Fanconi anemia gene mutations among men undergoing multigene germline testing for prostate cancer: Interim results from the EMPOWeR study.
Giri V, Gross L, Russo J, Shimada A, McNair C, Kelly W, Gomella L. Prevalence of Fanconi anemia gene mutations among men undergoing multigene germline testing for prostate cancer: Interim results from the EMPOWeR study. Journal Of Clinical Oncology 2022, 40: 188-188. DOI: 10.1200/jco.2022.40.6_suppl.188.Peer-Reviewed Original ResearchProstate cancerPrevalence of FAGermline testingEMPOWER studyMultigene testingMutation carriersMutation prevalencePopulation prevalenceExact testLimited prevalence dataGene mutationsLikely pathogenic mutationsFisher's exact testCancer risk genesClinical characteristicsGleason scoreMean ageClinical trialsPCa diagnosisFA genesFas gene mutationPrevalence ratesCancer managementPCa biologyFA pathway genes
2017
Inherited Mutations in Men Undergoing Multigene Panel Testing for Prostate Cancer: Emerging Implications for Personalized Prostate Cancer Genetic Evaluation
Giri V, Obeid E, Gross L, Bealin L, Hyatt C, Hegarty S, Montgomery S, Forman A, Bingler R, Kelly W, Dicker A, Winheld S, Trabulsi E, Chen D, Lallas C, Allen B, Daly M, Gomella L. Inherited Mutations in Men Undergoing Multigene Panel Testing for Prostate Cancer: Emerging Implications for Personalized Prostate Cancer Genetic Evaluation. JCO Precision Oncology 2017, 1: 1-17. PMID: 34164591, PMCID: PMC8210976, DOI: 10.1200/po.16.00039.Peer-Reviewed Original ResearchFamily historyGenetic counselingMultigene testingEligibility criteriaPrecision therapyFH dataDNA repair genesReferral of menEarly-stage diseaseMultigene panel testingOvarian cancer syndromeStrong family historyCancer genetic evaluationStage/gradeRepair genesDetailed family historyPersonalized genetic counselingProstate cancer predispositionMetastatic diseaseCancer screeningMedical recordsProstate cancerBreast cancerMutation carriersHigh risk
2014
Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study
Bancroft E, Page E, Castro E, Lilja H, Vickers A, Sjoberg D, Assel M, Foster C, Mitchell G, Drew K, Mæhle L, Axcrona K, Evans D, Bulman B, Eccles D, McBride D, van Asperen C, Vasen H, Kiemeney L, Ringelberg J, Cybulski C, Wokolorczyk D, Selkirk C, Hulick P, Bojesen A, Skytte A, Lam J, Taylor L, Oldenburg R, Cremers R, Verhaegh G, van Zelst-Stams W, Oosterwijk J, Blanco I, Salinas M, Cook J, Rosario D, Buys S, Conner T, Ausems M, Ong K, Hoffman J, Domchek S, Powers J, Teixeira M, Maia S, Foulkes W, Taherian N, Ruijs M, Enden A, Izatt L, Davidson R, Adank M, Walker L, Schmutzler R, Tucker K, Kirk J, Hodgson S, Harris M, Douglas F, Lindeman G, Zgajnar J, Tischkowitz M, Clowes V, Susman R, Ramón y Cajal T, Patcher N, Gadea N, Spigelman A, van Os T, Liljegren A, Side L, Brewer C, Brady A, Donaldson A, Stefansdottir V, Friedman E, Chen-Shtoyerman R, Amor D, Copakova L, Barwell J, Giri V, Murthy V, Nicolai N, Teo S, Greenhalgh L, Strom S, Henderson A, McGrath J, Gallagher D, Aaronson N, Ardern-Jones A, Bangma C, Dearnaley D, Costello P, Eyfjord J, Rothwell J, Falconer A, Gronberg H, Hamdy F, Johannsson O, Khoo V, Kote-Jarai Z, Lubinski J, Axcrona U, Melia J, McKinley J, Mitra A, Moynihan C, Rennert G, Suri M, Wilson P, Killick E, Collaborators T, Moss S, Eeles R. Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study. European Urology 2014, 66: 489-499. PMID: 24484606, PMCID: PMC4105321, DOI: 10.1016/j.eururo.2014.01.003.Peer-Reviewed Original ResearchConceptsPositive predictive valueHigh-risk diseaseBRCA2 mutation carriersProstate cancerTargeted prostate cancerMutation carriersBRCA1/2 mutationsHigh riskProstate-specific antigen (PSA) testingProstate cancer screeningScreening resultsGermline BRCA1/2 mutationsFisher's exact testInitial screening roundGermline genetic markersIdentification of tumorsBreast cancer 1Germline genetic risk variantsBreast cancer 2PCa incidencePSA levelsAntigen testingTumor characteristicsAggressive diseaseBRCA2 carriers
2013
Prevalence of the HOXB13 G84E Mutation Among Unaffected Men with a Family History of Prostate Cancer
Handorf E, Crumpler N, Gross L, Giri V. Prevalence of the HOXB13 G84E Mutation Among Unaffected Men with a Family History of Prostate Cancer. Journal Of Genetic Counseling 2013, 23: 371-376. PMID: 24310616, PMCID: PMC4028414, DOI: 10.1007/s10897-013-9672-5.Peer-Reviewed Original ResearchConceptsHOXB13 G84E mutationProstate cancerG84E mutationFamily historyProstate cancer screening programsCancer screening programsProstate cancer screeningProstate cancer riskHigh-risk menMen ages 35HOXB13 G84ECancer screeningExact binomial confidence intervalsMutation carriersScreening programAge 35Cancer riskClinical utilityUnaffected menPrevalence estimatesGenetic testingPrevalenceCancerConfidence intervalsGenetic counseling