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
2012
Sa1774 Prevalence of MLH1 Constitutional Epimutations as a Cause of Lynch Syndrome in Unselected Consecutive Cases of Colorectal Cancer
Rodriguez-Soler M, Pérez-Carbonell L, Guarinos C, Castillejo A, Egoavil C, Barberà V, Martinez-Dueńas E, Castillejo M, Martinez-Canto A, Sanchez-Heras A, Ruiz-Ponte C, Brea A, Alenda C, Paya A, Sanchez-Fortun C, Juarez-Quesada M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Soto J, Jover R. Sa1774 Prevalence of MLH1 Constitutional Epimutations as a Cause of Lynch Syndrome in Unselected Consecutive Cases of Colorectal Cancer. Gastroenterology 2012, 142: s-322. DOI: 10.1016/s0016-5085(12)61211-6.Peer-Reviewed Original Research