2015
Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome
Santa Cruz Guindalini R, Win AK, Gulden C, Lindor NM, Newcomb PA, Haile RW, Raymond V, Stoffel E, Hall M, Llor X, Ukaegbu CI, Solomon I, Weitzel J, Kalady M, Blanco A, Terdiman J, Shuttlesworth GA, Lynch PM, Hampel H, Lynch HT, Jenkins MA, Olopade OI, Kupfer SS. Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome. Gastroenterology 2015, 149: 1446-1453. PMID: 26248088, PMCID: PMC4648287, DOI: 10.1053/j.gastro.2015.07.052.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenosine TriphosphatasesAdultAge FactorsAgedAged, 80 and overBlack or African AmericanColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA Repair EnzymesDNA-Binding ProteinsFamilyFemaleHumansIncidenceMaleMiddle AgedMismatch Repair Endonuclease PMS2MutationMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsRetrospective StudiesRisk FactorsSex FactorsConceptsColorectal cancerLynch syndromeCumulative riskRisk of CRCUS referral centersMMR gene mutationsMutation spectrumNongenetic risk factorsYears of ageMismatch repair genesMMR gene productsMutation-carrying familiesReferral centerRetrospective studyCRC riskRisk factorsFamily historyCancer riskHigh incidenceCRC conditionsSyndromeAbstractTextMMR genesAscertainment criteriaCancer
2005
Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy in colorectal cancer
Jover R, Zapater P, Castells A, Llor X, Andreu M, Cubiella J, Piñol V, Xicola RM, Bujanda L, Reñé JM, Clofent J, Bessa X, Morillas JD, Nicolás-Pérez D, Payá A, Alenda C. Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy in colorectal cancer. Gut 2005, 55: 848. PMID: 16299036, PMCID: PMC1856227, DOI: 10.1136/gut.2005.073015.Peer-Reviewed Original ResearchConceptsMMR-deficient tumorsAdjuvant chemotherapyColorectal cancerMMR statusDeficient tumorsStage IIMismatch repair-deficient colorectal cancersDisease-free survivalStandard clinical criteriaMismatch repair statusDeficient colorectal cancerMSH2 protein expressionLoss of MLH1Lack of benefitShort-term survivalPrediction of benefitFluorouracil chemotherapyMedian followFree survivalOverall survivalRetrospective studyTumor recurrenceClinical criteriaChemotherapyPatients