2024
899 YALE CRITERIA FOR GENETIC TESTING IN CASES OF SUSPECTED HEREDITARY DIFFUSE GASTRIC CANCER (HDGC) ARE MORE SENSITIVE THAN IGCLC AND ERN GENTURIS CRITERIA IN A LARGE AMERICAN COHORT
Lerner B, Giner-Calabuig M, Carraway C, Richardson M, Krahn K, Susswein L, Heald B, Karam R, Xicola R, Llor X. 899 YALE CRITERIA FOR GENETIC TESTING IN CASES OF SUSPECTED HEREDITARY DIFFUSE GASTRIC CANCER (HDGC) ARE MORE SENSITIVE THAN IGCLC AND ERN GENTURIS CRITERIA IN A LARGE AMERICAN COHORT. Gastroenterology 2024, 166: s-215. DOI: 10.1016/s0016-5085(24)00984-3.Peer-Reviewed Original Research
2022
Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants
Lerner BA, Xicola RM, Rodriguez NJ, Karam R, Llor X. Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants. Journal Of Medical Genetics 2022, 60: 36-40. PMID: 35078942, PMCID: PMC9661780, DOI: 10.1136/jmedgenet-2021-108169.Peer-Reviewed Original ResearchConceptsInternational Gastric Cancer Linkage ConsortiumHereditary diffuse gastric cancerPercentage of subjectsGastric cancerMutation carriersPathogenic variantsMultigene panel testingPathogenic CDH1 variantsAutosomal dominant syndromeDiffuse gastric cancerClinical criteriaConsecutive casesMedical historyPathology reportsCDH1 variantsPanel testingGenetic testingCancer pathology reportsCancerPathology
2020
Genetic Gastric Cancer Risk Syndromes
Lerner BA, Llor X. Genetic Gastric Cancer Risk Syndromes. Current Treatment Options In Gastroenterology 2020, 18: 604-615. PMID: 33776403, PMCID: PMC7992355, DOI: 10.1007/s11938-020-00312-z.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsHereditary gastric cancer syndromesHereditary diffuse gastric cancerGastric cancer syndromeGastric cancerHamartomatous polyposis syndromesPolyposis syndromeLynch syndromeRisk syndromeCancer syndromesPathogenic variantsMultigene panel testingAdenomatous polyposis syndromeDiffuse gastric cancerCumulative incidenceProximal polyposisRecent FindingsPatientsCancer deathClinical criteriaGastric adenocarcinomaLeading causeProphylactic gastrectomyMutation statusPanel testingSyndromeCancer penetrance
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
2018
1066 - Phenotypic Expression of Cdh1 Germline Mutations Unselected for Hereditary Diffuse Gastric Cancer
Rodriguez N, Reineke P, LaDuca H, Xicola R, Llor X. 1066 - Phenotypic Expression of Cdh1 Germline Mutations Unselected for Hereditary Diffuse Gastric Cancer. Gastroenterology 2018, 154: s-204. DOI: 10.1016/s0016-5085(18)31081-3.Peer-Reviewed Original ResearchHereditary diffuse gastric cancerCDH1 germline mutationsDiffuse gastric cancerGastric cancerGermline mutations