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 ResearchMeSH KeywordsAdultAge FactorsAgedAged, 80 and overGerm-Line MutationHumansMiddle AgedNeoplasmsOpen Reading FramesSignal TransductionConceptsAge groupsGermline variantsSomatic mutationsLate-onset cancerEarly-onset cancersCancer hallmark genesSomatic mutation burdenMutation burdenMalignant transformationCancer genesYounger ageGermline alterationsCancerVariant burdenBurdenAverage numberHallmark genesAgeNegative correlationStrong negative correlationMutationsPatientsGroup
2018
An integrative bioinformatics approach reveals coding and non-coding gene variants associated with gene expression profiles and outcome in breast cancer molecular subtypes
Győrffy B, Pongor L, Bottai G, Li X, Budczies J, Szabó A, Hatzis C, Pusztai L, Santarpia L. An integrative bioinformatics approach reveals coding and non-coding gene variants associated with gene expression profiles and outcome in breast cancer molecular subtypes. British Journal Of Cancer 2018, 118: 1107-1114. PMID: 29559730, PMCID: PMC5931099, DOI: 10.1038/s41416-018-0030-0.Peer-Reviewed Original ResearchConceptsHER2-negative tumorsBreast cancer patientsCancer patientsER-positive/HER2-negative tumorsBreast cancer molecular subtypesMETABRIC data setMolecular breast cancer subtypesCox regression analysisBreast cancer subtypesCancer molecular subtypesGene expression profilesMann-Whitney U testRegression analysisMultivariate regression analysisPrognostic valueKaplan-MeierBreast cancerClinical dataDisease outcomeTCGA cohortGene expressionMolecular subtypesCancer-associated genesCancer-related genesClinical relevance