2024
Rare germline variants in cancer-relevant genes are associated with breast cancer risk in young women with high-risk family history
Rozenblit M, Qing T, Ye Y, Zhao H, Hofstatter E, Singh V, Reisenbichler E, Murray M, Pusztai L. Rare germline variants in cancer-relevant genes are associated with breast cancer risk in young women with high-risk family history. Breast Cancer Research And Treatment 2024, 1-6. PMID: 39602012, DOI: 10.1007/s10549-024-07560-y.Peer-Reviewed Original ResearchHigh-risk family historyFamily historyRare germline variantsCancer riskSNP-set kernel association testAssociated with breast cancer riskCancer casesContribution of family historyEarly-onset breast cancerCancer Prevention ClinicBreast cancerBreast cancer riskKernel association testBreast cancer casesCancer-predisposing genesGermline variantsGermline pathogenic variantsYoung womenPrevention clinicSKAT-OBurden testsPathogenic variantsExome sequencing dataAssociation TestLevel alterations
2023
Prevalence of targetable genomic alterations in young women with advanced breast cancer: a cross-sectional study
Blansky D, Ansari N, Gao L, Sokol E, Sivakumar S, Huang R, Pelletier M, Levy M, Pavlick D, Danziger N, Ross J, Lustberg M, Rozenblit M. Prevalence of targetable genomic alterations in young women with advanced breast cancer: a cross-sectional study. Breast Cancer Research And Treatment 2023, 204: 181-185. PMID: 37999916, DOI: 10.1007/s10549-023-07179-5.Peer-Reviewed Original ResearchComprehensive genomic profilingBreast cancerYoung womenGenomic alterationsAdvanced breast cancerPD-L1 expressionTargetable genomic alterationsWorse clinical outcomesTime of diagnosisTumor mutational burdenCross-sectional studyBreast cancer casesFoundation MedicineClinical outcomesPIK3CA mutationsCancer casesEstrogen receptorMutational burdenOlder womenConclusionOur findingsTotal casesBreast tumorsTumor tissueBRCA1 mutationsMicrosatellite instability