Nicole Casasanta, MD
she/her/hers
Clinical FellowAbout
Research
Publications
Featured Publications
TP53 genomic alterations including targetable TP53 Y220C mutation in clinically advanced breast cancer
Casasanta, N; Kahn, A; Fischbach, N; Pavlick, D, Lustberg, M; LoRusso, P; Sokol, E.S.; Graf, R; Quintanilha, J.C.F.; Li, G; Levy, M; Elvin, J; Ross, J.S.; & Pusztai, L. TP53 genomic alterations including targetable TP53 Y220C mutation in clinically advanced breast cancer.. JCO 43, 1043-1043(2025). DOI:10.1200/JCO.2025.43.16_suppl.1043Peer-Reviewed Original Research
2026
Association of high and moderate penetrance monogenic variants, polygenic risk, and family history with breast cancer in an ancestrally diverse population
Soper E, Casasanta N, Dubois B, Belbin G, Kenny E, Abul-Husn N. Association of high and moderate penetrance monogenic variants, polygenic risk, and family history with breast cancer in an ancestrally diverse population. Cancer Genetics 2026, 304: 34-40. PMID: 41855952, DOI: 10.1016/j.cancergen.2026.03.004.Peer-Reviewed Original ResearchPolygenic risk scoresModerate penetrance genesElectronic health recordsBreast cancer riskPenetrance genesFamily historyCancer riskDegree of breast cancer riskBreast cancerElectronic health record reviewRisk of breast cancerLow polygenic risk scoresHigher polygenic risk scoresAncestrally diverse populationsDiverse populationsClinical genetic testingGenomic risk factorsHealth recordsPolygenic riskModify riskGenetic testingRisk scoreMonogenic variantsReduced riskRisk factors
2024
Low Dose Tamoxifen for Breast Cancer Prevention: A Real-World Experience
Patel R, Jin C, Jaber D, Casasanta N, Jain M, Fu W, Wu C, Moshier E, Tiersten A. Low Dose Tamoxifen for Breast Cancer Prevention: A Real-World Experience. Clinical Breast Cancer 2024, 25: 283-290. PMID: 39837695, DOI: 10.1016/j.clbc.2024.12.020.Peer-Reviewed Original ResearchConceptsLobular carcinoma in situDuctal carcinoma in situLow dose tamoxifenCarcinoma in situAtypical hyperplasiaBreast cancer preventionLog-binomial modelsRetrospective chart review of womenPoison regression modelsChart review of womenIncidence rate of AEFrequency of adverse eventsReview of womenCompare adverse event ratesRetrospective chart reviewHigh-risk lesionsAdverse event ratesCancer preventionIncidence rateAromatase inhibitorsAtypical lesionsAdverse eventsRegression modelsDisease characteristicsHyperplasiaCorrelating Predicted Adjuvant Therapy Benefit and Risk of Recurrence Between Breast Cancer Index (BCI) and the 21-Gene Oncotype DX Recurrence Score (RS)
Casasanta N, Patel R, Raymond S, Kier M, Blanter J, Sohval S, Hovstadius M, Wu C, Zimmerman B, Cascetta K, Bagiella E, Tiersten A. Correlating Predicted Adjuvant Therapy Benefit and Risk of Recurrence Between Breast Cancer Index (BCI) and the 21-Gene Oncotype DX Recurrence Score (RS). Clinical Breast Cancer 2024, 24: 585-596. PMID: 38971641, DOI: 10.1016/j.clbc.2024.06.005.Peer-Reviewed Original ResearchBreast Cancer IndexEarly-stage breast cancerOncotype DX RSAssociated with discordanceOncotype DX recurrence scoreAdjuvant therapy benefitReview of womenOncotype DXRecurrence scoreRecurrence riskEndocrine therapyCancer indexRetrospective chart review of womenChart review of womenRetrospective review of womenRisk of distant recurrenceTherapy benefitRisk of recurrenceRetrospective chart reviewRegression modelsUnivariate logistic regression modelLogistic regression modelsPrediction scoreDistant recurrenceAdjuvant therapy
2023
Outcomes with panobinostat in heavily pretreated multiple myeloma patients
Pan D, Mouhieddine T, Upadhyay R, Casasanta N, Lee A, Zubizarreta N, Moshier E, Richter J. Outcomes with panobinostat in heavily pretreated multiple myeloma patients. Seminars In Oncology 2023, 50: 40-48. PMID: 37005144, DOI: 10.1053/j.seminoncol.2023.03.006.Peer-Reviewed Original ResearchConceptsMultiple myelomaStandard-of-care therapyResponse rateTriple-class refractory diseaseHigh-risk cytogeneticsClinical benefit rateMedian overall survivalProgression-free survivalRefractory multiple myelomaMultiple myeloma patientsHistone-deacetylase inhibitorsDescending order of frequencyMount Sinai HospitalOral optionOverall survivalRefractory diseaseMyeloma patientsBenefit ratePanobinostatAcademic medical centerTriple classPatientsMyelomaAgent combinationsSinai Hospital
2022
Presentation of concurrent thrombotic thrombocytopenic purpura and Graves’ disease
Casasanta N, Shah N, Troy K, Edwards C, Patel R. Presentation of concurrent thrombotic thrombocytopenic purpura and Graves’ disease. Blood Coagulation & Fibrinolysis 2022, 33: 422-424. PMID: 35867945, DOI: 10.1097/mbc.0000000000001154.Peer-Reviewed Original ResearchConceptsThrombotic thrombocytopenic purpuraThrombocytopenic purpuraGraves' diseaseAutoimmune diseasesConcurrent thrombotic thrombocytopenic purpuraDeficient activity of ADAMTS13Retrospective review of patientsDiagnosing TTPUncontrolled autoimmune diseaseReview of patientsThyroid function testsAutoimmune thyroid diseaseActivity of ADAMTS13Thrombotic microangiopathyRetrospective reviewThyroid diseaseAutoimmune disordersStandard treatmentFunction testsDeficient activityPatientsThyrotoxicosisPurpuraDiseaseGraves
2019
Response to Letter to the Editor: High Oncotype DX Recurrence Score, Hereditary Cancer Syndromes, and Referral for Germline Genetic Testing
Casasanta N, Amdur R, Kaltman R. Response to Letter to the Editor: High Oncotype DX Recurrence Score, Hereditary Cancer Syndromes, and Referral for Germline Genetic Testing. Clinical Breast Cancer 2019, 20: e198-e199. PMID: 31964593, DOI: 10.1016/j.clbc.2019.12.007.Commentaries, Editorials and LettersRelationship Between Hereditary Cancer Syndromes and Oncotype DX Recurrence Score
Casasanta N, Kipnis S, Linville L, Lipinski S, Knoedler A, Marino A, McHenry A, Biagi T, Stark E, Amdur R, Denduluri N, Rodriguez P, Isaacs C, Kaltman R. Relationship Between Hereditary Cancer Syndromes and Oncotype DX Recurrence Score. Clinical Breast Cancer 2019, 20: 125-130. PMID: 31526714, DOI: 10.1016/j.clbc.2019.07.004.Peer-Reviewed Original ResearchConceptsGermline mutation statusOncotype DX recurrence scoreBreast cancer patientsRecurrence scoreMutation statusOncotype DXAssociation of RSGermline mutationsCancer patientsHormone receptor-positive breast cancer patientsHereditary cancer riskGermline genetic testingGenetic risk assessmentHereditary cancer syndromesAssociated with germline mutationsBenefit of chemotherapyRetrospective analysis of dataMultivariate logistic regression modelLikelihood of recurrenceFisher's exact testMultivariate logistic regressionCounseling of family membersLogistic regression modelsNon-BRCA1/2BRCA2 genes
2018
Loss of KDM6A Activates Super-Enhancers to Induce Gender-Specific Squamous-like Pancreatic Cancer and Confers Sensitivity to BET Inhibitors
Andricovich J, Perkail S, Kai Y, Casasanta N, Peng W, Tzatsos A. Loss of KDM6A Activates Super-Enhancers to Induce Gender-Specific Squamous-like Pancreatic Cancer and Confers Sensitivity to BET Inhibitors. Cancer Cell 2018, 33: 512-526.e8. PMID: 29533787, PMCID: PMC5854186, DOI: 10.1016/j.ccell.2018.02.003.Peer-Reviewed Original ResearchConceptsPancreatic cancerCOMPASS-like complexesBET inhibitorsMetastatic pancreatic cancerSensitivity to BET inhibitorsSubtypes of tumorsSpectrum of malignanciesPatient-tailored therapySuper-enhancersActivation of super-enhancersSquamous-likeTumor suppressor functionSquamous differentiationRestrained tumor growthTailored therapyTumor growthTherapeutic nicheKDM6A lossSuppressor functionAberrant activationKDM6ACancerCharacterized mechanismsInhibitorsConcomitant lossThe Perils of Single‐Site Genetic Testing for Hereditary Cancer Syndromes in the Era of Next‐Generation Sequencing
Casasanta N, Stark E, McHenry A, Biagi T, Kaltman R. The Perils of Single‐Site Genetic Testing for Hereditary Cancer Syndromes in the Era of Next‐Generation Sequencing. The Oncologist 2018, 23: 393-396. PMID: 29445031, PMCID: PMC5896713, DOI: 10.1634/theoncologist.2017-0372.Peer-Reviewed Original ResearchConceptsHereditary cancer syndromesCancer syndromesGenetic testingExpanded panel testingOvarian cancer syndromeNational Comprehensive Cancer Network criteriaFemale breast cancerOptimal management of cancer patientsPanel testingClinical genetic testingHereditary genetic syndromesManagement of cancer patientsHereditary breastGenetic riskFamily historyGenetic counselingCell cycle checkpoint arrestCounseling patientsDouble-strand DNA break repairEra of next-generation sequencingBreast cancerNetwork criteriaClinical managementClinical significanceFamily members
Academic Achievements & Community Involvement
News
News
- July 01, 2026
Dr. Nicole Casasanta Joins Center for Breast Cancer at Smilow Cancer Hospital and Yale Cancer Center
- December 13, 2025
Yale research advances presented at San Antonio Breast Cancer Symposium annual meeting
- June 06, 2025
Yale Cancer Center Researchers and Trainees Present at 2025 ASCO Annual Meeting
- May 22, 2025
2025 ASCO Conquer Cancer Grants & Awards Announced