2017
Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors
Adalsteinsson VA, Ha G, Freeman SS, Choudhury AD, Stover DG, Parsons HA, Gydush G, Reed SC, Rotem D, Rhoades J, Loginov D, Livitz D, Rosebrock D, Leshchiner I, Kim J, Stewart C, Rosenberg M, Francis JM, Zhang CZ, Cohen O, Oh C, Ding H, Polak P, Lloyd M, Mahmud S, Helvie K, Merrill MS, Santiago RA, O’Connor E, Jeong SH, Leeson R, Barry RM, Kramkowski JF, Zhang Z, Polacek L, Lohr JG, Schleicher M, Lipscomb E, Saltzman A, Oliver NM, Marini L, Waks AG, Harshman LC, Tolaney SM, Van Allen EM, Winer EP, Lin NU, Nakabayashi M, Taplin ME, Johannessen CM, Garraway LA, Golub TR, Boehm JS, Wagle N, Getz G, Love JC, Meyerson M. Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors. Nature Communications 2017, 8: 1324. PMID: 29109393, PMCID: PMC5673918, DOI: 10.1038/s41467-017-00965-y.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingCell-free DNATumor biopsiesTumor whole-exome sequencingTumor contentHigh concordanceClonal somatic mutationsMetastatic tumorsBreast cancerMetastatic prostateBlood samplesPatientsTumor mutationsCfDNA profilingBiopsyMutational signaturesSomatic mutationsTumorsNumber alterationsConcordanceComprehensive profilingNeoantigensSequencingProstateCancerA Phase Ib Study of Alpelisib (BYL719), a PI3Kα-Specific Inhibitor, with Letrozole in ER+/HER2− Metastatic Breast Cancer
Mayer IA, Abramson VG, Formisano L, Balko JM, Estrada MV, Sanders ME, Juric D, Solit D, Berger MF, Won HH, Li Y, Cantley LC, Winer E, Arteaga CL. A Phase Ib Study of Alpelisib (BYL719), a PI3Kα-Specific Inhibitor, with Letrozole in ER+/HER2− Metastatic Breast Cancer. Clinical Cancer Research 2017, 23: 26-34. PMID: 27126994, PMCID: PMC5085926, DOI: 10.1158/1078-0432.ccr-16-0134.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAntineoplastic Combined Chemotherapy ProtocolsAromatase InhibitorsBiomarkers, TumorBreast NeoplasmsCell Line, TumorDNA Mutational AnalysisFemaleHumansIn Situ Hybridization, FluorescenceLetrozoleMaximum Tolerated DoseMiddle AgedMutationNeoplasm MetastasisNeoplasm StagingNitrilesPhosphatidylinositol 3-KinasesPhosphoinositide-3 Kinase InhibitorsReceptor, ErbB-2Receptor, Fibroblast Growth Factor, Type 1Receptors, EstrogenThiazolesTreatment OutcomeTriazolesConceptsMaximum-tolerated doseBreast cancer cellsEndocrine therapyClinical benefitCommon drug-related adverse eventsDrug-related adverse eventsMutant breast cancer cellsBreast cancer refractoryPIK3CA mutation statusPIK3CA-mutated tumorsClinical benefit ratePhase Ib studyPI3K catalytic subunit p110αDose-limiting toxicityCancer cellsSelective oral inhibitorOverexpression of FGFR1Combination of letrozoleSynergistic antitumor activityCatalytic subunit p110αCancer refractoryFGFR1/2 amplificationMetastatic ERAdverse eventsObjective response
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
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 ResearchMeSH KeywordsAdultBreast NeoplasmsDNA Mutational AnalysisFemaleGenes, BRCA1Genetic TestingHumansLogistic ModelsMedical History TakingMiddle AgedOvarian NeoplasmsRisk Factors