2024
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, jmg-2024-110446. PMID: 39674581, 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 cancerCancer
2019
Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria
Xicola RM, Li S, Rodriguez N, Reinecke P, Karam R, Speare V, Black MH, LaDuca H, Llor X. Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria. Journal Of Medical Genetics 2019, 56: 838. PMID: 31296550, DOI: 10.1136/jmedgenet-2019-105991.Peer-Reviewed Original ResearchConceptsHereditary diffuse gastric cancerPathogenic variant carriersBreast cancerGastric cancerClinical criteriaCancer riskVariant carriersMultigene panel testingCancer genetics programCancer phenotypePathogenic CDH1 variantsGastric cancer riskBreast cancer familiesDiffuse gastric cancerCancer risk estimationGenotype-phenotype correlationClinical featuresCumulative cancer riskHDGC criteriaCumulative riskAge 80CDH1 variantsPanel testingClinical phenotypePathogenic variants