2023
Genomics of ERBB2-Positive Breast Cancer in Young Women Before and After Exposure to Chemotherapy Plus Trastuzumab
Lipsyc-Sharf M, Jain E, Collins L, Rosenberg S, Ruddy K, Tamimi R, Schapira L, Come S, Peppercorn J, Borges V, Warner E, Snow C, Krop I, Kim D, Weiss J, Zanudo J, Partridge A, Wagle N, Waks A. Genomics of ERBB2-Positive Breast Cancer in Young Women Before and After Exposure to Chemotherapy Plus Trastuzumab. JCO Precision Oncology 2023, 7: e2300076. PMID: 37364233, DOI: 10.1200/po.23.00076.Peer-Reviewed Original ResearchConceptsPositive breast cancerWhole-exome sequencingBreast cancerYoung womenWomen age 40 yearsErbB2-positive breast cancerErb-b2 receptor tyrosine kinase 2Half of patientsTime pointsLarge prospective cohortAge 40 yearsPost-treatment tumorsReceptor tyrosine kinase 2Post-treatment specimensPost-treatment samplesProspective cohortPositive tumorsTyrosine kinase 2Cancer-related genesPatientsTumor-normal pairsTherapeutic resistanceTumor tissueCNS changesHotspot mutations
2013
Prevalence of germline TP53 mutations in HER2+ breast cancer patients
Rath MG, Masciari S, Gelman R, Miron A, Miron P, Foley K, Richardson AL, Krop IE, Verselis SJ, Dillon DA, Garber JE. Prevalence of germline TP53 mutations in HER2+ breast cancer patients. Breast Cancer Research And Treatment 2013, 139: 193-198. PMID: 23580068, PMCID: PMC4280061, DOI: 10.1007/s10549-012-2375-z.Peer-Reviewed Original ResearchConceptsGermline TP53 mutationsLi-Fraumeni syndromeBreast cancer ageBreast cancerTP53 mutationsCancer ageER/PR statusYoung womenGermline TP53 mutation carriersGermline TP53 testingUnselected young womenTP53 mutation carriersBreast cancer patientsCohort of womenFamily cancer historyPotential clinical impactTP53 carriersTP53 testingPR statusSingle centerFrequent tumorsCancer historyCancer patientsChompret criteriaMultiplex ligation-dependent probe amplification (MLPA) technique
2011
P1-09-03: Prevalence of Germline TP53 Mutations in Young Women with HER2−Positive Breast Cancer.
Dick M, Masciari S, Miron A, Miron P, Foley K, Gelman R, Dillon D, Richardson A, Verselis S, Lypas G, Krop I, Garber J. P1-09-03: Prevalence of Germline TP53 Mutations in Young Women with HER2−Positive Breast Cancer. Cancer Research 2011, 71: p1-09-03-p1-09-03. DOI: 10.1158/0008-5472.sabcs11-p1-09-03.Peer-Reviewed Original ResearchGermline TP53 mutationsHER2-positive breast cancerPositive breast cancerBreast cancerTP53 mutationsBC diagnosisFamily historyBRCA1/2 mutationsYounger ageDana-Farber Cancer InstituteYoung womenJ Clin OncolYoung-onset breast cancerPopulation-based seriesCohort of womenFamily cancer historyOnset breast cancerLi-Fraumeni syndromeGermline DNA samplesEstimates of prevalenceTP53 testingER-/PRMultiplex ligation-dependent probe amplification analysisFrequent tumorsCancer history