2021
Genomic Determinants of Homologous Recombination Deficiency across Human Cancers
Qing T, Wang X, Jun T, Ding L, Pusztai L, Huang K. Genomic Determinants of Homologous Recombination Deficiency across Human Cancers. Cancers 2021, 13: 4572. PMID: 34572800, PMCID: PMC8472123, DOI: 10.3390/cancers13184572.Peer-Reviewed Original ResearchHRD phenotypeCancer typesPARPi sensitivityPathogenic germline variantsHomologous recombination deficiencyFuture clinical studiesNumber deletionMultiple cancer typesSomatic driver mutationsLung cancerCopy number deletionPolymerase inhibitor treatmentProstate cancerBreast cancerClinical studiesTumor subsetsHRD scoreInhibitor treatmentSomatic genomic dataClinical biomarkersGermline variantsCancerRecombination deficiencyDriver mutationsSynthetic lethality strategy
2020
Germline variant burden in cancer genes correlates with age at diagnosis and somatic mutation burden
Qing T, Mohsen H, Marczyk M, Ye Y, O’Meara T, Zhao H, Townsend JP, Gerstein M, Hatzis C, Kluger Y, Pusztai L. Germline variant burden in cancer genes correlates with age at diagnosis and somatic mutation burden. Nature Communications 2020, 11: 2438. PMID: 32415133, PMCID: PMC7228928, DOI: 10.1038/s41467-020-16293-7.Peer-Reviewed Original ResearchConceptsAge groupsGermline variantsSomatic mutationsLate-onset cancerEarly-onset cancersCancer hallmark genesSomatic mutation burdenMutation burdenMalignant transformationCancer genesYounger ageGermline alterationsCancerVariant burdenBurdenAverage numberHallmark genesAgeNegative correlationStrong negative correlationMutationsPatientsGroup
2017
Functional germline variants as potential co-oncogenes
Agarwal D, Nowak C, Zhang NR, Pusztai L, Hatzis C. Functional germline variants as potential co-oncogenes. Npj Breast Cancer 2017, 3: 46. PMID: 29177190, PMCID: PMC5700137, DOI: 10.1038/s41523-017-0051-5.Peer-Reviewed Original ResearchRecent genome sequencing studiesFunction of proteinsDifferent oncogenic eventsGermline variantsGenome sequencing studiesSomatic mutationsDriver mutationsPhenotypic variationSpecific cancer subtypesLarge breast cancer cohortSomatic driver mutationsSequencing studiesFull malignant transformationFunctional germline variantsCancer biologyRecurrent driver mutationsOncogenic eventsSomatic eventsMutationsGermline aberrationsGermline polymorphismsFamilial cancerIndividual cancersMalignant transformationPolymorphism
2016
Deciphering and Targeting Oncogenic Mutations and Pathways in Breast Cancer
Santarpia L, Bottai G, Kelly CM, Győrffy B, Székely B, Pusztai L. Deciphering and Targeting Oncogenic Mutations and Pathways in Breast Cancer. The Oncologist 2016, 21: 1063-1078. PMID: 27384237, PMCID: PMC5016060, DOI: 10.1634/theoncologist.2015-0369.Peer-Reviewed Original ResearchConceptsBreast cancerCancer-causing genesCopy number variationsRNA speciesRNA editingGenomic variationNext-generation sequencingRNA sequencingGenomic complexityGenomic portraitGreater genomic complexityOncogenic mutationsOncogenic eventsTarget profilingRare mutationsMutationsRecurrent mutationsSomatic variantsGenetic aberrationsFormal clinical trialsPotential therapeutic implicationsDriver mutationsSequencingGermline variantsMolecular abnormalitiesPatient preferences regarding incidental genomic findings discovered during tumor profiling
Yushak ML, Han G, Bouberhan S, Epstein L, DiGiovanna MP, Mougalian SS, Sanft TB, Abu-Khalaf MM, Chung GG, Stein SM, Goldberg SB, Pusztai L, Hofstatter EW. Patient preferences regarding incidental genomic findings discovered during tumor profiling. Cancer 2016, 122: 1588-1597. PMID: 26970385, DOI: 10.1002/cncr.29951.Peer-Reviewed Original ResearchConceptsIncidental findingTumor profilingGermline variantsAmbulatory oncology clinicsMajority of patientsStandard of careTumor profiling testsOncology clinicPreventable diseaseFamily historyPatient tumorsInformation patientsPreventable illnessPatientsDisease variablesUnpreventable diseaseUncertain significanceDisclosure preferencesCancerFrequent concernTumorsIllnessProfiling testsDiseaseCurrent study