2014
The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals
Abulí A, Bujanda L, Muñoz J, Buch S, Schafmayer C, Valeria Maiorana M, Veneroni S, van Wezel T, Liu T, Westers H, Esteban-Jurado C, Ocaña T, Piqué JM, Andreu M, Jover R, Carracedo A, Xicola RM, Llor X, Castells A, , Dunlop M, Hofstra R, Lindblom A, Wijnen J, Peterlongo P, Hampe J, Ruiz-Ponte C, Castellví-Bel S. The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals. PLOS ONE 2014, 9: e95022. PMID: 24743384, PMCID: PMC3990597, DOI: 10.1371/journal.pone.0095022.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenosine TriphosphatasesAmino Acid SubstitutionCohort StudiesColorectal NeoplasmsDNA Repair EnzymesDNA-Binding ProteinsFemaleGenetic Association StudiesGerm-Line MutationHumansINDEL MutationMaleMismatch Repair Endonuclease PMS2Mutation, MissenseMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsConceptsColorectal cancerPathological characteristicsLynch syndromeCase-control studyLynch syndrome tumorsFamilial adenomatous polyposisDefective DNA mismatch repairGenotype-phenotype correlationFrequent neoplasmLow-penetrance variantsFamily historyLarge cohortImportant causeAdenomatous polyposisTotal burdenGenetic susceptibilityGermline mutationsUncertain significancePathogenic consequencesSyndromeMLH1 geneCommon formDNA mismatch repairMendelian syndromesRisk variants
2011
Colorectal Cancers with Microsatellite Instability Display Unique miRNA Profiles
Balaguer F, Moreira L, Lozano JJ, Link A, Ramirez G, Shen Y, Cuatrecasas M, Arnold M, Meltzer SJ, Syngal S, Stoffel E, Jover R, Llor X, Castells A, Boland CR, Gironella M, Goel A. Colorectal Cancers with Microsatellite Instability Display Unique miRNA Profiles. Clinical Cancer Research 2011, 17: 6239-6249. PMID: 21844009, PMCID: PMC3186834, DOI: 10.1158/1078-0432.ccr-11-1424.Peer-Reviewed Original ResearchConceptsColorectal cancerTypes of MSIMicrosatellite instabilityMiRNA expression profilesUnique miRNA profileCRC tissuesNormal colonic mucosa tissuesSporadic MSI tumorsColonic mucosa tissuesMSS colorectal cancerLynch syndrome tumorsNormal colonic mucosaSporadic microsatellite instabilityMiRNA profilesMSI-positive samplesNormal colonic tissueUnique miRNA expression profilesExpression profilesQuantitative reverse transcriptase PCRReverse transcriptase-PCRDistinct miRNA expression profilesColonic mucosaLynch syndromeColonic tissueColorectal carcinogenesis