2020
Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome
Picó MD, Sánchez-Heras AB, Castillejo A, Giner-Calabuig M, Alustiza M, Sánchez A, Moreira L, Pellise M, Castells A, Llort G, Yagüe C, Ramon y Cajal T, Gisbert-Beamud A, Cubiella J, Rivas L, Herraiz M, Garau C, Salces I, Carrillo-Palau M, Bujanda L, López-Fernández A, Alvarez-Urturi C, López MJ, Alenda C, Zapater P, Lacueva FJ, Balaguer F, Soto JL, Murcia Ó, Jover R. Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome. Cancers 2020, 12: 2225. PMID: 32784934, PMCID: PMC7466118, DOI: 10.3390/cancers12082225.Peer-Reviewed Original ResearchFDRs of patientsLynch-like syndromeFirst-degree relativesStandardized incidence ratiosColorectal cancerLynch syndromeLLS patientsRisk of CRCHereditary colorectal cancerPathogenic mutationsGermline pathogenic mutationsRisk of cancerLoss of MLH1Mismatch repair deficiencyCRC patientsIncidence ratiosLS patientsImmunohistochemical lossCommon causeHigh incidencePatientsNeoplasmsSyndromeRepair deficiencyRisk
2016
Candidate predisposing germline copy number variants in early onset colorectal cancer patients
Brea-Fernandez AJ, Fernandez-Rozadilla C, Alvarez-Barona M, Azuara D, Ginesta MM, Clofent J, de Castro L, Gonzalez D, Andreu M, Bessa X, Llor X, Xicola R, Jover R, Castells A, Castellvi-Bel S, Capella G, Carracedo A, Ruiz-Ponte C. Candidate predisposing germline copy number variants in early onset colorectal cancer patients. Clinical And Translational Oncology 2016, 19: 625-632. PMID: 27888432, DOI: 10.1007/s12094-016-1576-z.Peer-Reviewed Original ResearchMeSH KeywordsAge of OnsetColorectal NeoplasmsDNA Copy Number VariationsDNA MethylationDNA Mutational AnalysisGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansIntercellular Signaling Peptides and ProteinsLoss of HeterozygosityNerve Tissue ProteinsReal-Time Polymerase Chain ReactionConceptsColorectal cancerEarly-onset colorectal cancer patientsEarly-onset CRC patientsMethods/patientsWeColorectal cancer patientsHereditary colorectal cancerIdentifiable germline mutationsCopy number variantsPenetrant copy number variantsSomatic mutation analysisCRC patientsGenome-wide copy number analysisCancer patientsReal-time quantitative PCRMultiplex ligation probe amplificationCRC tumorsColorectal carcinogenesisLoss of heterozygosityPatientsSLIT2 geneGenetic susceptibilityDuplex real-time quantitative PCREarly onsetGermline mutationsConclusionsThese findings
2014
675 Unveiling of DNA Repair Gene Alterations in Non-Lynch Hereditary Colorectal Cancer Through Exome Sequencing
Marwaha P, Xicola R, Kim Y, Snyder C, Carroll T, Syngal S, Buxbaum S, Zhang M, Want S, Lynch H, Bessa X, Andreu M, Jover R, Carracedo A, Castells A, Caldes T, Ellis N, Llor X. 675 Unveiling of DNA Repair Gene Alterations in Non-Lynch Hereditary Colorectal Cancer Through Exome Sequencing. Gastroenterology 2014, 146: s-119. DOI: 10.1016/s0016-5085(14)60429-7.Peer-Reviewed Original ResearchDNA repair gene alterationsHereditary colorectal cancerColorectal cancerExome sequencingGene alterationsCancer
2009
Calculation of Risk of Colorectal and Endometrial Cancer Among Patients With Lynch Syndrome
Stoffel E, Mukherjee B, Raymond V, Tayob N, Kastrinos F, Sparr J, Wang F, Bandipalliam P, Syngal S, Gruber S. Calculation of Risk of Colorectal and Endometrial Cancer Among Patients With Lynch Syndrome. Gastroenterology 2009, 137: 1621-1627. PMID: 19622357, PMCID: PMC2767441, DOI: 10.1053/j.gastro.2009.07.039.Peer-Reviewed Original ResearchConceptsRisk of colorectal cancerCumulative risk of colorectal cancerHazard ratioColorectal cancerCumulative riskLifetime risk of colorectal cancerMismatch repair gene mutation carriersEstimates of colorectal cancerAge-specific cumulative riskMismatch repair gene mutationsEstimates of lifetime riskCancer genetics clinicsCases of colorectal cancerModified segregation analysisRisk of colorectalColorectal cancer riskHereditary colorectal cancerEndometrial cancerGene mutation carriersRepair gene mutationsRisk of ECOverestimation of penetrationFirst-degree relativesLynch syndromeCancer surveillance
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply