2019
Reversion and non-reversion mechanisms of resistance (MoR) to PARP inhibitor (PARPi) or platinum chemotherapy (chemotx) in patients (pts) with BRCA1/2 -mutant metastatic breast cancer (MBC).
Waks A, Cohen O, Kochupurakkal B, Kim D, Wander S, Buendia-Buendia J, Helvie K, Matulonis U, Krop I, Tolaney S, Winer E, D'Andrea A, Shapiro G, Lin N, Wagle N. Reversion and non-reversion mechanisms of resistance (MoR) to PARP inhibitor (PARPi) or platinum chemotherapy (chemotx) in patients (pts) with BRCA1/2 -mutant metastatic breast cancer (MBC). Journal Of Clinical Oncology 2019, 37: 1085-1085. DOI: 10.1200/jco.2019.37.15_suppl.1085.Peer-Reviewed Original ResearchFork protectionRAD51 fociHomologous recombinationWhole-exome sequencingReplication fork protectionDNA end resectionPARP inhibitorsReversion mutationsIntact homologous recombinationEnd resectionGenomic dataBRCA1/2 proteinsMetastatic tumor biopsiesExome sequencingMutationsGenesResponse/resistanceGermline DNAWES analysisIntrinsic resistanceReversionSequencingProteinDNAAlterations
2018
Acquired HER2 mutations in ER+ metastatic breast cancer confer resistance to estrogen receptor–directed therapies
Nayar U, Cohen O, Kapstad C, Cuoco MS, Waks AG, Wander SA, Painter C, Freeman S, Persky NS, Marini L, Helvie K, Oliver N, Rozenblatt-Rosen O, Ma CX, Regev A, Winer EP, Lin NU, Wagle N. Acquired HER2 mutations in ER+ metastatic breast cancer confer resistance to estrogen receptor–directed therapies. Nature Genetics 2018, 51: 207-216. PMID: 30531871, DOI: 10.1038/s41588-018-0287-5.Peer-Reviewed Original ResearchConceptsHER2 mutationsEstrogen receptorBreast cancerClinical resistance mechanismsMainstay of treatmentMetastatic breast cancerReceptor-directed therapyCDK6 inhibitor palbociclibPre-existing mutationsMetastatic settingEstrogen independenceInhibitor palbociclibPrimary tumorMetastatic biopsiesInhibitor neratinibTherapyPatientsER mutationsCancerTamoxifenResistance mechanismsDistinct mechanismsMutationsConfer resistanceBiopsyAllele-Specific Chromatin Recruitment and Therapeutic Vulnerabilities of ESR1 Activating Mutations
Jeselsohn R, Bergholz JS, Pun M, Cornwell M, Liu W, Nardone A, Xiao T, Li W, Qiu X, Buchwalter G, Feiglin A, Abell-Hart K, Fei T, Rao P, Long H, Kwiatkowski N, Zhang T, Gray N, Melchers D, Houtman R, Liu XS, Cohen O, Wagle N, Winer EP, Zhao J, Brown M. Allele-Specific Chromatin Recruitment and Therapeutic Vulnerabilities of ESR1 Activating Mutations. Cancer Cell 2018, 33: 173-186.e5. PMID: 29438694, PMCID: PMC5813700, DOI: 10.1016/j.ccell.2018.01.004.Peer-Reviewed Original ResearchConceptsChromatin recruitmentLigand-independent functionsER mutationsPro-metastatic phenotypeGenetic screenTranscriptional networksTranscriptional programsWild-type ERTherapeutic vulnerabilitiesPotential therapeutic targetMutationsMutantsDomain mutationsLigand-binding domain mutationsActivating mutationsTherapeutic targetTherapy resistanceUnique recruitmentRecruitmentGenetic vulnerabilityCancer modelGenesBreast cancer modelERPhenotype
2003
Attitudes, knowledge, risk perceptions and decision‐making among women with breast and/or ovarian cancer considering testing for BRCA1 and BRCA2 and their spouses
Bluman LG, Rimer BK, Sterba K, Lancaster J, Clark S, Borstelmann N, Iglehart JD, Winer EP. Attitudes, knowledge, risk perceptions and decision‐making among women with breast and/or ovarian cancer considering testing for BRCA1 and BRCA2 and their spouses. Psycho-Oncology 2003, 12: 410-427. PMID: 12833555, DOI: 10.1002/pon.653.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedATP Binding Cassette Transporter, Subfamily G, Member 2ATP-Binding Cassette TransportersBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsDecision MakingDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseGenetic TestingHealth Knowledge, Attitudes, PracticeHumansMaleMiddle AgedNeoplasm ProteinsNeoplasm Recurrence, LocalOvarian NeoplasmsRiskSpousesConceptsGenetic testingBreast cancer susceptibilityOvarian cancerBreast cancerCancer susceptibilityInvolvement of spousesWives' breast cancerBRCA2 mutationsBRCA2 testingFuture interventionsCancerWomenPersonal historyBRCA2Cancer geneticsOne-thirdBRCA1BreastSpousesInvolvementMost spousesDecision-making processTestingSusceptibilityMutations
1999
Attitudes, knowledge, and risk perceptions of women with breast and/or ovarian cancer considering testing for BRCA1 and BRCA2.
Bluman L, Rimer B, Berry D, Borstelmann N, Iglehart J, Regan K, Schildkraut J, Winer E. Attitudes, knowledge, and risk perceptions of women with breast and/or ovarian cancer considering testing for BRCA1 and BRCA2. Journal Of Clinical Oncology 1999, 17: 1040-6. PMID: 10071299, DOI: 10.1200/jco.1999.17.3.1040.Peer-Reviewed Original ResearchConceptsOvarian cancerBRCA2 mutationsHigh-risk womenPercent of womenBaseline questionnairePhysician referralCancer riskChallenges cliniciansGenetic testingKnowledge deficitsWomenCancerGene mutationsBreastBRCA2PatientsBaseline knowledgeRiskBRCA1Cancer geneticsTrialsRisk perceptionHigher proportionMutationsPerception of risk
1998
Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.
Frank TS, Manley SA, Olopade OI, Cummings S, Garber JE, Bernhardt B, Antman K, Russo D, Wood ME, Mullineau L, Isaacs C, Peshkin B, Buys S, Venne V, Rowley PT, Loader S, Offit K, Robson M, Hampel H, Brener D, Winer EP, Clark S, Weber B, Strong LC, Thomas A. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. Journal Of Clinical Oncology 1998, 16: 2417-25. PMID: 9667259, DOI: 10.1200/jco.1998.16.7.2417.Peer-Reviewed Original Research
1997
A Review of Hereditary Breast Cancer: From Screening to Risk Factor Modification
Warmuth M, Sutton L, Winer E. A Review of Hereditary Breast Cancer: From Screening to Risk Factor Modification. The American Journal Of Medicine 1997, 102: 407-415. PMID: 9217624, DOI: 10.1016/s0002-9343(97)00093-4.Peer-Reviewed Original ResearchConceptsRisk factor modificationBreast cancerFactor modificationGenetic testingBreast cancer riskBreast cancer casesHereditary breast cancerPotential prophylactic measuresClinical managementBRCA2 mutationsCancer casesCancer riskProphylactic measuresWay patientsCancerGene mutationsGenetic mutationsGenetic testsGenetic aspectsMajor advancesBRCA1MutationsScreeningPatientsDisease