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