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
2019
Investigation of HBOC germline mutations in women diagnosed with breast cancer in Trinidad and Tobago.
Parkinson G, Chagpar A, Alleyne-Mike K, Nunez-Smith M, Zhou A, Servais L, Hofstatter E. Investigation of HBOC germline mutations in women diagnosed with breast cancer in Trinidad and Tobago. Journal Of Clinical Oncology 2019, 37: 6574-6574. DOI: 10.1200/jco.2019.37.15_suppl.6574.Peer-Reviewed Original ResearchFemale breast cancer patientsBreast cancer patientsNCCN criteriaCancer patientsGenetic counselingHigher breast cancer mortality ratesYounger ageHBOC testingBreast cancer mortality ratesOvarian cancer syndromeBreast cancer treatmentBreast cancer casesCancer mortality ratesYears of ageTesting servicesFurther genetic counselingPre-test counselingBreast cancer diagnosisNCCN guidelinesChart reviewFemale patientsOncology unitBreast cancerCancer casesFamily history