2021
Genetic/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
Longitudinal 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
1996
Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families
Tonin P, Weber B, Offit K, Couch F, Rebbeck T, Neuhausen S, Godwin A, Daly M, Wagner-Costalos J, Berman D, Grana G, Fox E, Kane M, Kolodner R, Krainer M, Haber D, Struewing J, Warner E, Rosen B, Lerman C, Peshkin B, Norton L, Serova O, Foulkes W, Lynch H, Lenoir G, Narod S, Garber J. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nature Medicine 1996, 2: 1179-1183. PMID: 8898735, DOI: 10.1038/nm1196-1179.Peer-Reviewed Original Research