2025
Genomic landscape and homologous recombination repair deficiency signature in stage I-III and de novo stage IV primary breast cancers
Jeon J, Chen K, Madison R, Schrock A, Sokol E, Levy M, Rozenblit M, Huang R, Pusztai L. Genomic landscape and homologous recombination repair deficiency signature in stage I-III and de novo stage IV primary breast cancers. The Oncologist 2025, 30: oyaf089. PMID: 40421962, PMCID: PMC12107548, DOI: 10.1093/oncolo/oyaf089.Peer-Reviewed Original ResearchConceptsHomologous recombination deficiencyDe novo stage IV breast cancerStage IV breast cancerPrimary breast cancerIV breast cancerStage I-III cancerStage I-IIIBreast cancerGenomic alterationsFrequency of genomic alterationsHER2+ cancersI-IIITargetable genomic alterationsGenomic landscapePlatinum-based treatmentWild-type cancersHR repairCancer-related genesER+/HER2- cancersLate relapsePrimary tumorFoundation MedicinePIK3CA mutationsMutation statusNo significant difference
2024
Early-onset appendiceal adenocarcinoma (EOAA): 10-year experience from a single center.
Gujarathi R, Belmont E, Rodman C, Bansal V, Setia N, Alpert L, Hart J, Moller M, Eng O, Lee G, Chin J, Amin M, Polite B, Liao C, Turaga K, Shergill A. Early-onset appendiceal adenocarcinoma (EOAA): 10-year experience from a single center. Journal Of Clinical Oncology 2024, 42: 4178-4178. DOI: 10.1200/jco.2024.42.16_suppl.4178.Peer-Reviewed Original ResearchOutcomes of overall survivalAppendiceal adenocarcinomaEarly-onset diseasePerineural invasionCytoreductive surgeryUnivariate Cox proportional hazards regression analysisCox proportional hazards regression analysisIncidence of early-onsetAssociated with poor outcomesGrade 3 diseaseProportional hazards regression analysisTargetable genomic alterationsHigh-volume centersLymph node metastasisRecords of patientsHazards regression analysisGermline mutation testingLate-onset diseaseCHEK2 mutationsMedian OSVulnerable patient populationCancer ptsOverall survivalLocalized diseaseMetastatic/recurrent disease
2023
Prevalence of targetable genomic alterations in young women with advanced breast cancer: a cross-sectional study
Blansky D, Ansari N, Gao L, Sokol E, Sivakumar S, Huang R, Pelletier M, Levy M, Pavlick D, Danziger N, Ross J, Lustberg M, Rozenblit M. Prevalence of targetable genomic alterations in young women with advanced breast cancer: a cross-sectional study. Breast Cancer Research And Treatment 2023, 204: 181-185. PMID: 37999916, DOI: 10.1007/s10549-023-07179-5.Peer-Reviewed Original ResearchComprehensive genomic profilingBreast cancerYoung womenGenomic alterationsAdvanced breast cancerPD-L1 expressionTargetable genomic alterationsWorse clinical outcomesTime of diagnosisTumor mutational burdenCross-sectional studyBreast cancer casesFoundation MedicineClinical outcomesPIK3CA mutationsCancer casesEstrogen receptorMutational burdenOlder womenConclusionOur findingsTotal casesBreast tumorsTumor tissueBRCA1 mutationsMicrosatellite instability
2022
Regulatory enhancer profiling of mesenchymal-type gastric cancer reveals subtype-specific epigenomic landscapes and targetable vulnerabilities
Ho S, Sheng T, Xing M, Ooi W, Xu C, Sundar R, Huang K, Li Z, Kumar V, Ramnarayanan K, Zhu F, Srivastava S, Bin Adam Isa Z, Anene-Nzelu C, Razavi-Mohseni M, Shigaki D, Ma H, Tan A, Ong X, Lee M, Tay S, Guo Y, Huang W, Li S, Beer M, Foo R, Teh M, Skanderup A, Teh B, Tan P. Regulatory enhancer profiling of mesenchymal-type gastric cancer reveals subtype-specific epigenomic landscapes and targetable vulnerabilities. Gut 2022, 72: 226-241. PMID: 35817555, DOI: 10.1136/gutjnl-2021-326483.Peer-Reviewed Original ResearchConceptsEpigenomic landscapeGastric cancerEnhancer landscapeGenome-wide epigenomic profilesDownstream targetsPharmacological inhibitionCell linesClinically aggressive subtypeTargetable genomic alterationsMultiple molecular subtypesChIP-seqPoor patient survivalGenomic associationsGC cell linesTranscriptomic scenarioEpigenomic profilingSuper-enhancersChromatin immunoprecipitationRNA sequencingTranscriptome profilingUpstream regulatorGenomic alterationsTherapy resistanceCRISPR/Cas9 editingPatient survival
2020
Hepatocellular Carcinoma Role of Pathology in the Era of Precision Medicine
Vyas M, Zhang X. Hepatocellular Carcinoma Role of Pathology in the Era of Precision Medicine. Clinics In Liver Disease 2020, 24: 591-610. PMID: 33012447, DOI: 10.1016/j.cld.2020.07.010.Peer-Reviewed Original ResearchConceptsHepatocellular carcinomaRole of pathologyTargetable genomic alterationsDistinct histologic subtypesConfirmation of diagnosisArchitectural growth patternRadiologic featuresHistologic subtypeHistopathologic diagnosisMolecular alterationsPersonalized careHeterogeneous tumorsPathologyPrecision oncologyGenomic alterationsPrecision medicineDiagnosisAlterations
2018
Identification of ovarian cancer patients for immunotherapy by concurrent assessment of tumor mutation burden (TMB), microsatellite instability (MSI) status, and targetable genomic alterations (GA)
Feinberg J, Elvin J, Bellone S, Santin A. Identification of ovarian cancer patients for immunotherapy by concurrent assessment of tumor mutation burden (TMB), microsatellite instability (MSI) status, and targetable genomic alterations (GA). Gynecologic Oncology 2018, 149: 36. DOI: 10.1016/j.ygyno.2018.04.081.Peer-Reviewed Original ResearchGenomic Heterogeneity as a Barrier to Precision Medicine in Gastroesophageal Adenocarcinoma
Pectasides E, Stachler M, Derks S, Liu Y, Maron S, Islam M, Alpert L, Kwak H, Kindler H, Polite B, Sharma M, Allen K, O'Day E, Lomnicki S, Maranto M, Kanteti R, Fitzpatrick C, Weber C, Setia N, Xiao S, Hart J, Nagy R, Kim K, Choi M, Min B, Nason K, O'Keefe L, Watanabe M, Baba H, Lanman R, Agoston A, Oh D, Dunford A, Thorner A, Ducar M, Wollison B, Coleman H, Ji Y, Posner M, Roggin K, Turaga K, Chang P, Hogarth K, Siddiqui U, Gelrud A, Ha G, Freeman S, Rhoades J, Reed S, Gydush G, Rotem D, Davison J, Imamura Y, Adalsteinsson V, Lee J, Bass A, Catenacci D. Genomic Heterogeneity as a Barrier to Precision Medicine in Gastroesophageal Adenocarcinoma. Cancer Discovery 2018, 8: cd-17-0395. PMID: 28978556, PMCID: PMC5894850, DOI: 10.1158/2159-8290.cd-17-0395.Peer-Reviewed Original ResearchConceptsCell-free DNAGastroesophageal adenocarcinomaPrimary tumorMetastatic lesionsMetastatic tumorsTargeted therapyGenomic alterationsGenomic biomarkersAnalysis of cell-free DNACell-free DNA profilingSynchronous metastatic lesionsGenomic profiling resultsTargetable genomic alterationsSelection of therapyClinically relevant alterationsGenomic heterogeneityPrecision medicineUntreated metastasesDisseminated diseaseMultiregional sequencingMetastatic tissuesTargetable alterationsBiomarker testingRelevant alterationsTissue profile
2017
Clinical and molecular characterization of patients with cancer of unknown primary in the modern era
Varghese A, Arora A, Capanu M, Camacho N, Won H, Zehir A, Gao J, Chakravarty D, Schultz N, Klimstra D, Ladanyi M, Hyman D, Solit D, Berger M, Saltz L. Clinical and molecular characterization of patients with cancer of unknown primary in the modern era. Annals Of Oncology 2017, 28: 3015-3021. PMID: 29045506, PMCID: PMC5834064, DOI: 10.1093/annonc/mdx545.Peer-Reviewed Original ResearchConceptsNext-generation sequencingOverall survivalCUP patientsTargeted therapyPattern of metastatic spreadTargeted Next-Generation SequencingMedian overall survivalMolecular characterization of patientsDiagnosis of CUPInstitutional review board approvalTargetable genomic alterationsTumor molecular profilingDominant mutational signatureTreatment of patientsReview board approvalCharacterization of patientsClinical trial enrollmentDocument demographic informationCytotoxic chemotherapyDismal prognosisMetastatic spreadDescription of patientsPathological evaluationClinical outcomesBoard approval
2016
Immunotherapy (IO) versus targeted therapy triage in endometrial adenocarcinoma (EA) by concurrent assessment of tumor mutation burden (TMB), microsatellite instability (MSI) status, and targetable genomic alterations (GA).
Santin A, Moore K, Gunderson C, Gowen K, Fabrizio D, Frampton G, Vergilio J, Suh J, Gay L, Ramkissoon S, Ali S, Miller V, Stephens P, Ross J, Sun J, Elvin J. Immunotherapy (IO) versus targeted therapy triage in endometrial adenocarcinoma (EA) by concurrent assessment of tumor mutation burden (TMB), microsatellite instability (MSI) status, and targetable genomic alterations (GA). Journal Of Clinical Oncology 2016, 34: 5591-5591. DOI: 10.1200/jco.2016.34.15_suppl.5591.Peer-Reviewed Original Research
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply