2023
NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.
Daly M, Pal T, Maxwell K, Churpek J, Kohlmann W, AlHilli Z, Arun B, Buys S, Cheng H, Domchek S, Friedman S, Giri V, Goggins M, Hagemann A, Hendrix A, Hutton M, Karlan B, Kassem N, Khan S, Khoury K, Kurian A, Laronga C, Mak J, Mansour J, McDonnell K, Menendez C, Merajver S, Norquist B, Offit K, Rash D, Reiser G, Senter-Jamieson L, Shannon K, Visvanathan K, Welborn J, Wick M, Wood M, Yurgelun M, Dwyer M, Darlow S. NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024. Journal Of The National Comprehensive Cancer Network 2023, 21: 1000-1010. PMID: 37856201, DOI: 10.6004/jnccn.2023.0051.Peer-Reviewed Original ResearchMeSH KeywordsBreast NeoplasmsFemaleGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHumansMaleOvarian NeoplasmsRisk FactorsConceptsGenetic/Familial High-Risk AssessmentNCCN guidelinesHigh-risk assessmentProstate cancerLP variantsGenetic counseling/testingNCCN Guidelines InsightsRisk of breastLi-Fraumeni syndromeUterine cancerOvarian cancerBreast cancerHereditary predispositionCare strategiesRisk reduction strategiesPathogenic variantsCancerBreastOvarianGender diverse peopleImportant updatesGuidelinesAssessmentSyndromePancreatic
2021
Genetic risk assessment for hereditary renal cell carcinoma: Clinical consensus statement
Bratslavsky G, Mendhiratta N, Daneshvar M, Brugarolas J, Ball MW, Metwalli A, Nathanson KL, Pierorazio PM, Boris RS, Singer EA, Carlo MI, Daly MB, Henske EP, Hyatt C, Middleton L, Morris G, Jeong A, Narayan V, Rathmell WK, Vaishampayan U, Lee BH, Battle D, Hall MJ, Hafez K, Jewett MAS, Karamboulas C, Pal SK, Hakimi AA, Kutikov A, Iliopoulos O, Linehan WM, Jonasch E, Srinivasan R, Shuch B. Genetic risk assessment for hereditary renal cell carcinoma: Clinical consensus statement. Cancer 2021, 127: 3957-3966. PMID: 34343338, PMCID: PMC8711633, DOI: 10.1002/cncr.33679.Peer-Reviewed Original ResearchConceptsRenal cell carcinomaGenetic risk assessmentHereditary renal cell carcinomaCell carcinomaConsensus statementMedical oncologistsMultidisciplinary panelPatient advocatesConsensus questionsClinical consensus statementHereditary kidney cancerMultigene panel testingClinical geneticistsFamily history criteriaPaucity of guidelinesUniform consensusStrong hereditary componentCurrent opinionGenetic counselorsMultifocal diseaseConsensus panelSpecific histologyKidney cancerRisk assessmentPanel testingGenetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
Daly M, Pal T, Berry M, Buys S, Dickson P, Domchek S, Elkhanany A, Friedman S, Goggins M, Hutton M, Karlan B, Khan S, Klein C, Kohlmann W, Kurian A, Laronga C, Litton J, Mak J, Menendez C, Merajver S, Norquist B, Offit K, Pederson H, Reiser G, Senter-Jamieson L, Shannon K, Shatsky R, Visvanathan K, Weitzel J, Wick M, Wisinski K, Yurgelun M, Darlow S, Dwyer M. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. Journal Of The National Comprehensive Cancer Network 2021, 19: 77-102. PMID: 33406487, DOI: 10.6004/jnccn.2021.0001.Peer-Reviewed Original ResearchConceptsLikely pathogenic variantsLi-Fraumeni syndromePathogenic variantsPancreatic cancerGenetic/Familial High-Risk AssessmentCancer syndromesNCCN Clinical Practice GuidelinesBreast/ovarian cancer syndromePremenopausal breast cancerClinical practice guidelinesSoft tissue sarcomasHigh lifetime riskOvarian cancer syndromeGenetic testing/counselingRisk of breastPenetrant cancer syndromeNCCN guidelinesTissue sarcomasAdrenocortical carcinomaLifetime riskOvarian cancerProstate cancerBreast cancerGastric cancerHigh-risk assessment
2020
Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019.
Giri VN, Knudsen KE, Kelly WK, Cheng HH, Cooney KA, Cookson MS, Dahut W, Weissman S, Soule HR, Petrylak DP, Dicker AP, AlDubayan SH, Toland AE, Pritchard CC, Pettaway CA, Daly MB, Mohler JL, Parsons JK, Carroll PR, Pilarski R, Blanco A, Woodson A, Rahm A, Taplin ME, Polascik TJ, Helfand BT, Hyatt C, Morgans AK, Feng F, Mullane M, Powers J, Concepcion R, Lin DW, Wender R, Mark JR, Costello A, Burnett AL, Sartor O, Isaacs WB, Xu J, Weitzel J, Andriole GL, Beltran H, Briganti A, Byrne L, Calvaresi A, Chandrasekar T, Chen DYT, Den RB, Dobi A, Crawford ED, Eastham J, Eggener S, Freedman ML, Garnick M, Gomella PT, Handley N, Hurwitz MD, Izes J, Karnes RJ, Lallas C, Languino L, Loeb S, Lopez AM, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann M, Mille P, Miner MM, Morgan T, Moreno J, Mucci L, Myers RE, Nielsen SM, O'Neil B, Pinover W, Pinto P, Poage W, Raj GV, Rebbeck TR, Ryan C, Sandler H, Schiewer M, Scott EMD, Szymaniak B, Tester W, Trabulsi EJ, Vapiwala N, Yu EY, Zeigler-Johnson C, Gomella LG. Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019. Journal Of Clinical Oncology 2020, 38: 2798-2811. PMID: 32516092, PMCID: PMC7430215, DOI: 10.1200/jco.20.00046.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsGermline testingFamily historyAdditional family historyHereditary cancer assessmentMetastatic disease treatmentAge 40 yearsClinical trial eligibilityPost-test discussionMultidisciplinary consensus conferenceProstate cancer treatmentMismatch repair genesCurrent practice challengesHereditary PCaTrial eligibilityMetastatic diseasePriority genesPathologic criteriaSomatic testingMetastatic PCaProstate cancerPCa diagnosisConsensus conferenceEvidence reviewCancer assessmentInformed consentLongitudinal follow-up after telephone disclosure in the randomized COGENT study
Kilbride M, Egleston B, Hall M, Patrick-Miller L, 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, Domchek S, Bradbury A. Longitudinal follow-up after telephone disclosure in the randomized COGENT study. Genetics In Medicine 2020, 22: 1401-1406. PMID: 32376981, PMCID: PMC7396300, DOI: 10.1038/s41436-020-0808-3.Peer-Reviewed Original ResearchMeSH KeywordsAdultDisclosureFemaleFollow-Up StudiesGenetic CounselingGenetic Predisposition to DiseaseGenetic TestingHumansTelephoneConceptsDisclosure of genetic test resultsGenetic test resultsMedical follow-upEra of multigene panel testingGermline cancer genetic testingCancer genetic testingIn-person disclosureMultigene panel testingMedical management recommendationsFollow-upFollow-up appointmentsTelephone disclosureGenetic counselorsLongitudinal follow-upIn-personLongitudinal riskGenetic testingPanel testingParticipantsGenetic resultsBehavioral outcomesAssociated with sitesManagement recommendationsTD armIPDNCCN 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
Preferences for in‐person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study
Beri N, Patrick‐Miller L, Egleston B, Hall M, 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. Preferences for in‐person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study. Clinical Genetics 2018, 95: 293-301. PMID: 30417332, PMCID: PMC6453119, DOI: 10.1111/cge.13474.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBiomarkers, TumorCommunicationFemaleGenetic CounselingGenetic Predisposition to DiseaseGenetic TestingHereditary Breast and Ovarian Cancer SyndromeHumansMaleMiddle AgedNeoplastic Syndromes, HereditaryOutcome Assessment, Health CarePatient CompliancePatient PreferenceTelephoneTruth DisclosureConceptsIn-person disclosureGenetic test resultsCancer-specific distressTelephone disclosureIn-personIn-person communicationCommunication of genetic test resultsDisclosure of genetic test resultsCancer genetic testingMultigene panel testingDisclosure of resultsGeneralized anxietyPretest counselingDelivery modelsCommunication of resultsTelephone studyDeclined randomizationGenetic medicineGenetic testingTelephoneState anxietyDistressPanel testingAnxietyDepressionRandomized Noninferiority Trial of Telephone vs In-Person Disclosure of Germline Cancer Genetic Test Results
Bradbury A, Patrick-Miller L, Egleston B, Hall M, 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. Randomized Noninferiority Trial of Telephone vs In-Person Disclosure of Germline Cancer Genetic Test Results. Journal Of The National Cancer Institute 2018, 110: 985-993. PMID: 29490071, PMCID: PMC6136932, DOI: 10.1093/jnci/djy015.Peer-Reviewed Original ResearchConceptsIn-person disclosureMultigene panel testingGenetic test resultsTelephone disclosureIn-personPretest counselingSurgery intentionsEra of multigene panel testingCancer-specific distressCancer genetic testingGenetic testingGermline genetic testingState anxietyMultiple imputation analysisGeneralized anxietyPanel testingSubgroup analysisStatistically significant differenceSecondary subgroup analysisUsual careGenetic counselorsImputation analysisSecondary analysisSecondary outcomesConfidence intervals
2014
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014.
Daly M, Pilarski R, Axilbund J, Buys S, Crawford B, Friedman S, Garber J, Horton C, Kaklamani V, Klein C, Kohlmann W, Kurian A, Litton J, Madlensky L, Marcom P, Merajver S, Offit K, Pal T, Pasche B, Reiser G, Shannon K, Swisher E, Voian N, Weitzel J, Whelan A, Wiesner G, Dwyer M, Kumar R. Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. Journal Of The National Comprehensive Cancer Network 2014, 12: 1326-38. PMID: 25190698, DOI: 10.6004/jnccn.2014.0127.Peer-Reviewed Original ResearchMeSH KeywordsDisease ManagementFemaleGenetic CounselingGenetic TestingGerm-Line MutationHamartoma Syndrome, MultipleHumansMaleConceptsNCCN GuidelinesAssessment of genetic mutationsGenetic/Familial High-Risk AssessmentDevelopment of breastManagement of patientsHamartoma tumor syndromeOvarian cancerGenetic aberrationsGenetic testing/counselingTumor syndromeIncreased riskGenetic mutationsHigh-risk assessmentDiagnostic criteriaBreastNCCNMutationsBRCA1/BRCA2Genetic/FamilialTP53PatientsSyndromeCancerCowdenGuidelines
2012
Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers
Finkelman B, Rubinstein W, Friedman S, Friebel T, Dubitsky S, Schonberger N, Shoretz R, Singer C, Blum J, Tung N, Olopade O, Weitzel J, Lynch H, Snyder C, Garber J, Schildkraut J, Daly M, Isaacs C, Pichert G, Neuhausen S, Couch F, Veer L, Eeles R, Bancroft E, Evans D, Ganz P, Tomlinson G, Narod S, Matloff E, Domchek S, Rebbeck T. Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers. Journal Of Clinical Oncology 2012, 30: 1321-1328. PMID: 22430266, PMCID: PMC3341145, DOI: 10.1200/jco.2011.37.8133.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge DistributionAgedBreast NeoplasmsCohort StudiesConfidence IntervalsFemaleGenes, BRCA1Genes, BRCA2Genetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHeterozygoteHumansIncidenceJewsMiddle AgedOdds RatioOvarian NeoplasmsPrevalencePrognosisProportional Hazards ModelsRisk AssessmentRisk Reduction BehaviorConceptsRisk-reducing salpingo-oophorectomyRisk of breast cancerOvarian cancer riskCancer riskRelative risk of breast cancerRisk reductionPopulation-based cohort studyBRCA1/2-positive womenMutation carriersCancer risk reductionBRCA1/2 mutation carriersRisk of cancerBreast cancerJewish womenCox proportional hazards modelsOvarian cancerNon-Jewish womenEstimate breastBRCA1/2 carriersProportional hazards modelBRCA2 carriersClinical careRelative riskBRCA1/2 mutationsCohort study