Validation of the NCCN/Yale criteria for the identification of CDH1 pathogenic variant carriers
Lerner B, Giner-Calabuig M, Carraway C, Richardson M, Krahn K, Susswein L, Nielsen S, Karam R, Xicola R, Llor X. Validation of the NCCN/Yale criteria for the identification of CDH1 pathogenic variant carriers. Journal Of Medical Genetics 2024, 62: 57-61. PMID: 39674581, PMCID: PMC11916899, DOI: 10.1136/jmg-2024-110446.Peer-Reviewed Original ResearchInternational Gastric Cancer Linkage ConsortiumInternational Gastric Cancer Linkage Consortium criteriaPV carriersLobular breast cancerGenetic tumor risk syndromesGenetic testingFamily membersEarly-onset diffuse gastric cancerPathogenic variant carriersGermline pathogenic variantsDiffuse gastric cancerPathogenic variantsEuropean Reference NetworkCancer geneticsRisk syndromeVariant carriersGenetics guidelinesEuropean cohortAutosomal-dominant syndromeBreast cancerCohortUS commercial laboratoryClinical dataGastric cancerCancerBRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients
Cheng H, Shevach J, Castro E, Couch F, Domchek S, Eeles R, Giri V, Hall M, King M, Lin D, Loeb S, Morgan T, Offit K, Pritchard C, Schaeffer E, Szymaniak B, Vassy J, Katona B, Maxwell K. BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients. JAMA Oncology 2024, 10: 1272-1281. PMID: 39052257, PMCID: PMC12080741, DOI: 10.1001/jamaoncol.2024.2185.Peer-Reviewed Original ResearchBRCA1/2 PVCancer riskPoly ADP-ribose polymeraseGenetic testingCancer genetic testingFamilial cancer riskPrimary care cliniciansEvidence of increased riskBRCA1/2-PV carriersMale carriersIncreased genetic testingRisk of breastRisk reductionCancer early detectionCancer-predisposing variantsClinical trial opportunitiesCancer therapy optionsCare cliniciansTargeted risk managementCancer screeningPV carriersHereditary cancerADP-ribose polymeraseGuideline recommendationsEarly cancer detectionSecond Primary Breast Cancer in Young Breast Cancer Survivors
Brantley K, Rosenberg S, Collins L, Ruddy K, Tamimi R, Schapira L, Borges V, Warner E, Come S, Zheng Y, Kirkner G, Snow C, Winer E, Partridge A. Second Primary Breast Cancer in Young Breast Cancer Survivors. JAMA Oncology 2024, 10: 718-725. PMID: 38602683, PMCID: PMC11009864, DOI: 10.1001/jamaoncol.2024.0286.Peer-Reviewed Original ResearchGenetic testingYoung Women's Breast Cancer StudyYoung breast cancer survivorsBreast cancerBreast cancer survivorsYoung BC survivorsPrimary breast cancerGermline genetic testingIII BCMedical record reviewBreast Cancer StudyGermline pathogenic variantsPathogenic variantsBC survivorsTreatment decision-makingCancer survivorsFine-Gray subdistribution hazard modelCumulative incidencePV carriersSubdistribution hazard modelStage 0Patient surveyCharacterize risk factorsUnilateral mastectomyPrimary BC
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