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
2021
Twenty-one-gene recurrence score (RS) in germline (g)CHEK2 mutation-associated versus sporadic breast cancers (BC): A multi-site case-control study.
Afghahi A, Marsh S, Winchester A, Gao D, Parris H, Axell L, Ellisen L, Hofstatter E, Kurian A, Wood M, Zakalik D, Mullin C, Caswell-Jin J, Borges V, Tung N. Twenty-one-gene recurrence score (RS) in germline (g)CHEK2 mutation-associated versus sporadic breast cancers (BC): A multi-site case-control study. Journal Of Clinical Oncology 2021, 39: 10531-10531. DOI: 10.1200/jco.2021.39.15_suppl.10531.Peer-Reviewed Original ResearchCHEK2 pathogenic variantsRecurrence scoreCase-control studyMedian RSBreast cancerPathogenic variantsHigh riskRisk groupsMutation statusHER2-negative BC patientsPR-negative breast cancerMulti-site case-control studyPatient-level clinical dataRS risk groupsLymph node statusHigh recurrence scoreLow-risk groupGermline pathogenic variantsSporadic breast cancerGenetic testing resultsElectronic medical recordsAdjuvant therapyChemotherapy benefitNode statusT stage