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
2016
Serrated colorectal cancer: Molecular classification, prognosis, and response to chemotherapy
Murcia O, Juárez M, Hernández-Illán E, Egoavil C, Giner-Calabuig M, Rodríguez-Soler M, Jover R. Serrated colorectal cancer: Molecular classification, prognosis, and response to chemotherapy. World Journal Of Gastroenterology 2016, 22: 3516-3530. PMID: 27053844, PMCID: PMC4814638, DOI: 10.3748/wjg.v22.i13.3516.Peer-Reviewed Original ResearchMeSH KeywordsAntineoplastic AgentsBiomarkers, TumorColorectal NeoplasmsCpG IslandsDNA MethylationGenetic Predisposition to DiseaseHumansMicrosatellite InstabilityMolecular Diagnostic TechniquesMutationNeoplasm StagingPhenotypePredictive Value of TestsProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)Treatment OutcomeConceptsColorectal cancerSerrated pathwayGene mutationsKRAS gene mutationsBRAF gene mutationClinical featuresColorectal carcinogenesisMolecular alterationsMicrosatellite instabilityHistological analysisSerrated appearanceTumor suppressor geneMolecular classificationAlternative pathwayChemotherapyPrognosisMolecular advancesSuppressor geneGenetic profileNew classificationPathwayHypermethylationTumorsCancerMutations