2021
Genomic Characterization of de novo Metastatic Breast Cancer
Garrido-Castro AC, Spurr LF, Hughes ME, Li YY, Cherniack AD, Kumari P, Lloyd MR, Bychkovsky B, Barroso-Sousa R, Di Lascio S, Jain E, Files J, Mohammed-Abreu A, Krevalin M, MacKichan C, Barry WT, Guo H, Xia D, Cerami E, Rollins BJ, MacConaill LE, Lindeman NI, Krop IE, Johnson BE, Wagle N, Winer EP, Dillon DA, Lin NU. Genomic Characterization of de novo Metastatic Breast Cancer. Clinical Cancer Research 2021, 27: 1105-1118. PMID: 33293374, PMCID: PMC7887078, DOI: 10.1158/1078-0432.ccr-20-1720.Peer-Reviewed Original ResearchConceptsMetastatic breast cancerPrimary tumorOverall survivalBreast cancerDe novo metastatic breast cancerNovo metastatic breast cancerDifferential therapeutic sensitivityBetter OSPoor OSShorter OSInitial diagnosisHigh TMBMetastatic tumorsDnMBCCurrent treatmentMutational burdenTreatment selectionMetastatic driversStage IMultiple comparison adjustmentTherapeutic sensitivityTumorsPatientsCancerIntrinsic resistance
2020
Genomic profiling of breast cancer brain metastases reveals targetable alterations.
Kabraji S, Spurr L, Hughes M, Li Y, Leone J, Garrido-Castro A, Barroso-Sousa R, Files J, Kirkner G, Johnson B, Winer E, Cherniack A, Lin N. Genomic profiling of breast cancer brain metastases reveals targetable alterations. Journal Of Clinical Oncology 2020, 38: 2525-2525. DOI: 10.1200/jco.2020.38.15_suppl.2525.Peer-Reviewed Original ResearchBreast cancer brain metastasesTumor mutation burdenCancer brain metastasesBrain metastasesTargetable alterationsGenomic alterationsDana-Farber Cancer InstituteTwo-sided Fisher's exact testPIK3CA/PTENActionable genomic alterationsFisher's exact testNumber alterationsTwo-sided MannWhitney U testPrimary tumorMetastatic tumorsMutation burdenERBB2 amplificationCancer InstituteMultiple comparison correctionCancer-related genesExact testCopy number alterationsGenomic profilingU testPrevalence and mutational determinants of high tumor mutation burden in breast cancer
Barroso-Sousa R, Jain E, Cohen O, Kim D, Buendia-Buendia J, Winer E, Lin N, Tolaney S, Wagle N. Prevalence and mutational determinants of high tumor mutation burden in breast cancer. Annals Of Oncology 2020, 31: 387-394. PMID: 32067680, DOI: 10.1016/j.annonc.2019.11.010.Peer-Reviewed Original ResearchConceptsHigh tumor mutation burdenTumor mutation burdenPD-1 inhibitorsBreast cancerMutation burdenMedian tumor mutation burdenDifferent mutational signaturesPembrolizumab-based therapyMetastatic breast cancerSubset of patientsMut/MbMismatch repair deficiencyGenomic profilesMutational patternsAPOBEC activityGene panel sequencingMultiple tumor typesWhole-exome sequencingDe-identified dataDurable responsesMetastatic tumorsPrimary tumorTumor subtypesPatientsTumor types
2019
Genomic landscape of de novo stage IV breast cancer.
Garrido-Castro A, Spurr L, Hughes M, Li Y, Cherniack A, Bychkovsky B, Barroso-Sousa R, Di Lascio S, Files J, Kumari P, Cerami E, Krop I, MacConaill L, Lindeman N, Rollins B, Johnson B, Wagle N, Winer E, Dillon D, Lin N. Genomic landscape of de novo stage IV breast cancer. Journal Of Clinical Oncology 2019, 37: 1022-1022. DOI: 10.1200/jco.2019.37.15_suppl.1022.Peer-Reviewed Original ResearchDe novo stage IV breast cancerRecurrent metastatic breast cancerStage IV breast cancerBreast cancerMetastatic tumorsMHC class II expressionMetastatic breast cancerPoor overall survivalClass II expressionFisher's exact testEpithelial-mesenchymal transitionPrimary TNBCCopy number variationsOverall survivalMetastatic sitesCCND1 amplificationImmune escapePotential resistance mechanismsDistinct genomic profilesMetastatic driversMetastatic samplesTreatment selectionExact testMetastatic potentialGenomic profiling
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 profilingNeoantigensSequencingProstateCancer