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
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