2019
Implication of DNA repair genes in Lynch-like syndrome
Xicola RM, Clark JR, Carroll T, Alvikas J, Marwaha P, Regan MR, Lopez-Giraldez F, Choi J, Emmadi R, Alagiozian-Angelova V, Kupfer SS, Ellis NA, Llor X. Implication of DNA repair genes in Lynch-like syndrome. Familial Cancer 2019, 18: 331-342. PMID: 30989425, PMCID: PMC6561810, DOI: 10.1007/s10689-019-00128-6.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overColorectal Neoplasms, Hereditary NonpolyposisDNA MethylationDNA Mismatch RepairDNA-Binding ProteinsFemaleGerm-Line MutationHeterozygoteHumansMaleMicrosatellite InstabilityMiddle AgedMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinSequence Analysis, DNAConceptsLLS patientsDistinct mutational signaturesGenome integrityLynch syndromeMutational signaturesMicrosatellite instabilityGermline mutationsColorectal cancerSequence analysisRepair genesSomatic MMR gene mutationsLS casesConsecutive CRC patientsMutational profileSomatic mutationsLynch-like syndromeL mutationMMR gene mutationsDNA repair genesFirst-degree relativesLikely pathogenic variantsSingle nucleotide variantsMLH1 promoter methylationTumor mutational profileExhibit microsatellite instability
2018
Lack of APC somatic mutation is associated with early-onset colorectal cancer in African Americans
Xicola RM, Manojlovic Z, Augustus GJ, Kupfer SS, Emmadi R, Alagiozian-Angelova V, Triche T, Salhia B, Carpten J, Llor X, Ellis NA. Lack of APC somatic mutation is associated with early-onset colorectal cancer in African Americans. Carcinogenesis 2018, 39: 1331-1341. PMID: 30239619, PMCID: PMC6292413, DOI: 10.1093/carcin/bgy122.Peer-Reviewed Original ResearchMeSH KeywordsAdenomatous Polyposis Coli ProteinBlack or African AmericanCadherinsColorectal NeoplasmsDNA Copy Number VariationsDNA MethylationDNA-Binding ProteinsExome SequencingFemaleGATA6 Transcription FactorHumansMaleMicrosatellite InstabilityMicrosatellite RepeatsMiddle AgedMixed Function OxygenasesProto-Oncogene ProteinsSOX9 Transcription FactorTranscription FactorsWnt Signaling Pathway