2020
Spatial profiling of gastric cancer patient-matched primary and locoregional metastases reveals principles of tumour dissemination
Sundar R, Liu D, Hutchins G, Slaney H, Silva A, Oosting J, Hayden J, Hewitt L, Ng C, Mangalvedhekar A, Ng S, Tan I, Tan P, Grabsch H. Spatial profiling of gastric cancer patient-matched primary and locoregional metastases reveals principles of tumour dissemination. Gut 2020, 70: 1823-1832. PMID: 33229445, PMCID: PMC8458060, DOI: 10.1136/gutjnl-2020-320805.Peer-Reviewed Original ResearchConceptsPrimary gastric cancerLymph node metastasisPrimary tumorGastric cancerIntratumour heterogeneityNode metastasisMatched lymph node metastasesRegional lymph node metastasisMultiplex ligation-dependent probe amplificationLigation-dependent probe amplificationPatient-matchedProgressive genomic changesDNA copy number profilesEndoscopic mucosal biopsiesCopy number profilesTherapeutically relevant genesLocoregional metastasesTumor disseminationResected samplesTargeted therapyHistomorphological phenotypesProbe amplificationBiomarker testingClinical trialsNanoString results
2015
Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
Castillejo A, Hernández-Illán E, Rodriguez-Soler M, Pérez-Carbonell L, Egoavil C, Barberá VM, Castillejo MI, Guarinos C, Martínez-de-Dueñas E, Juan MJ, Sánchez-Heras AB, García-Casado Z, Ruiz-Ponte C, Brea-Fernández A, Juárez M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Alenda C, Payá A, Jover R, Soto JL. Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer. Journal Of Medical Genetics 2015, 52: 498. PMID: 25908759, DOI: 10.1136/jmedgenet-2015-103076.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingBase SequenceColorectal Neoplasms, Hereditary NonpolyposisDNA MethylationDNA Mismatch RepairEpigenesis, GeneticGenetic TestingHumansMicrosatellite RepeatsMolecular Sequence DataMutationMutL Protein Homolog 1Nuclear ProteinsPrevalencePromoter Regions, GeneticSequence Analysis, DNAStatistics, NonparametricConceptsColorectal cancerMLH1 expressionConstitutional epimutationsMultiplex ligation-dependent probe amplificationLigation-dependent probe amplificationMethylation-specific multiplex ligation-dependent probe amplificationDiagnosis of CRCConstitutional MLH1 methylationSeries of patientsMismatch repair genesProbe amplificationBethesda guidelinesConsecutive seriesUnselected seriesLynch syndromeUnselected casesUnselected groupGeneral populationUnselected populationPatientsMLH1 methylationNegligible prevalenceGermline alterationsPrevalenceMLH1 epimutations
2014
Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities
Xu Z, Geng Q, Luo F, Xu F, Li P, Xie J. Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities. Molecular Cytogenetics 2014, 7: 84. PMID: 25530804, PMCID: PMC4271441, DOI: 10.1186/s13039-014-0084-5.Peer-Reviewed Original ResearchPrenatal ultrasound findingsUltrasound findingsMultiplex ligation-dependent probe amplificationCri du chat syndromeArray comparative genomic hybridization analysisComparative genomic hybridization analysisCytogenomic abnormalitiesLigation-dependent probe amplificationGenomic hybridization analysisMb deletionJacobsen syndromeGenetic counselingChat syndromeAbnormal ultrasound findingsPost-test genetic counselingMb duplicationPaternal balanced translocationSplit hand/foot malformationProbe amplificationACGH analysisMaternal screeningSpontaneous abortionPrenatal casesClinical utilityBackgroundThe aims
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