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
2025
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, Graf R, Quintanilha J, Li G, Levy M, Elvin J, Ross J, Pusztai L. TP53 genomic alterations including targetable TP53 Y220C mutation in clinically advanced breast cancer. Journal Of Clinical Oncology 2025, 43: 1043-1043. DOI: 10.1200/jco.2025.43.16_suppl.1043.Peer-Reviewed Original ResearchClinically advanced breast cancerTumor mutational burdenAdvanced breast cancerAssociated with GAGenomic alterationsWT groupTP53 WTBreast cancerMedian tumor mutation burdenTP53 genomic alterationsTP53 mutant groupPD-L1 expressionTP53 wild typeY220C mutationHomologous recombination deficiency signatureFisher's exact testMSI-highTumor suppressor geneAfrican genetic ancestryMedian GAPD-L1CDH1 mutationsLobular carcinomaMutational burdenEndocrine resistance
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 therapyFactors that impact aromatase inhibitor adherence in early-stage hormone receptor positive breast cancer.
Yang A, Baldwin E, Casasanta N, Tiersten A, Kier M. Factors that impact aromatase inhibitor adherence in early-stage hormone receptor positive breast cancer. Journal Of Clinical Oncology 2024, 42: e12524-e12524. DOI: 10.1200/jco.2024.42.16_suppl.e12524.Peer-Reviewed Original ResearchFirst-line AITherapy useSide effectsRecurrence riskBreast cancerNo significant differenceAromatase inhibitorsEarly-stage hormone receptor-positive breast cancerHormone receptor-positive breast cancerEfficacy of aromatase inhibitorsTreatment due to side effectsReceptor-positive breast cancerAI adherenceEarly-stage breast cancerSocioeconomic demographicsPatients' recurrence riskCohort median agePositive breast cancerSignificant differenceFisher's exact testSide effect frequencyPearson chi-square testKruskal-Wallis rank sum testRank sum testEndocrine treatment
2023
Women with pathogenic variants in moderate penetrance breast cancer genes: How frequently do they meet high penetrance genetic testing criteria?
Casasanta N, Soper E, Abul-Husn N. Women with pathogenic variants in moderate penetrance breast cancer genes: How frequently do they meet high penetrance genetic testing criteria? Journal Of Clinical Oncology 2023, 41: 10584-10584. DOI: 10.1200/jco.2023.41.16_suppl.10584.Peer-Reviewed Original ResearchGenetic testing criteriaNational Comprehensive Cancer Network criteriaNational Comprehensive Cancer NetworkBreast cancer genesClinical genetic testingGenetic testingPersonal historyPenetrance breast cancer genesBreast cancerPersonal history of breast cancerMP geneGenetic riskModerate penetranceBreast cancer predisposition genesCancer genetic testingCancer genesElectronic medical record reviewHigh-penetrance genesPathogenic variantsMedical record reviewGermline pathogenic variantsCancer predisposition genesAssociated with germline pathogenic variantsManagement of individualsComprehensive Cancer NetworkOutcomes 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
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. Blood 2022, 140: 12483-12484. DOI: 10.1182/blood-2022-159806.Peer-Reviewed Original ResearchPresentation 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
Academic Achievements & Community Involvement
News
News
- 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
- August 14, 2024
Welcome New Staff, Faculty, Fellows, Postgrads & Postdocs (August 2024)