Search results for "NONPOLYPOSIS COLORECTAL-CANCER"

showing 2 items of 2 documents

Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results

2020

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0301 basic medicineCancer Researchcongenital hereditary and neonatal diseases and abnormalitiesCARCINOMADNA mismatch repair3122 Cancerscolorectal cancersuolistosyövätBiologyGene mutationMLH1DIAGNOSISlcsh:RC254-282Article03 medical and health sciencesdeep sequencing0302 clinical medicineGermline mutationFREQUENT CAUSEMANAGEMENTLynchin oireyhtymäneoplasmspaksusuolisyöpäMUTATIONSPoint mutationMLH1METHYLATIONnutritional and metabolic diseasesNONPOLYPOSIS COLORECTAL-CANCERDEFECTSdiagnostiikkalcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensdigestive system diseases3. Good healthDNA-metylaatioMSH2MSH6030104 developmental biologyLynch syndromeOncologyMSH3syöpägeenitMSH2030220 oncology & carcinogenesisCancer researchDNA mismatch repairsyöpätauditCancers
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Epidemiological, clinical and molecular characterization of Lynch‐like syndrome: A population‐based study

2019

Colorectal carcinomas that are mismatch repair (MMR)‐deficient in the absence of MLH1 promoter methylation or germline mutations represent Lynch‐like syndrome (LLS). Double somatic events inactivating MMR genes are involved in the etiology of LLS tumors. Our purpose was to define the clinical and broader molecular hallmarks of LLS tumors and the population incidence of LLS, which remain poorly characterized. We investigated 762 consecutive colorectal carcinomas operated in Central Finland in 2000–2010. LLS cases were identified by a stepwise protocol based on MMR protein expression, MLH1 methylation and MMR gene mutation status. LLS tumors were profiled for CpG Island Methylator Phenotype (…

Cancer ResearchMICROSATELLITE INSTABILITYDNA mismatch repairMISMATCH-REPAIR DEFICIENCYGene mutationmedicine.disease_cause0302 clinical medicinelynch syndromeFinlandMolecular Epidemiologyeducation.field_of_studyMutationISLAND METHYLATOR PHENOTYPENONPOLYPOSIS COLORECTAL-CANCERlynch-like syndromeTUMORSLynch syndrome3. Good healthOncology030220 oncology & carcinogenesissyöpätauditColorectal NeoplasmsMutL Protein Homolog 1Lynch-like syndromeAdult3122 CancersPopulationsuolistosyövätCpG island methylator phenotypeBiologyta3111FREQUENCYMLH103 medical and health sciencesGermline mutationcolorectal carcinomaBRAF MUTATIONCOLONmedicineHumansLynchin oireyhtymäeducationneoplasmsMSIAgedRetrospective StudiesCpG Island Methylator PhenotypeMicrosatellite instabilityDNASOMATIC MUTATIONSta3122CpG Island Methylator phenotypemedicine.diseaseColorectal Neoplasms Hereditary Nonpolyposisdigestive system diseasesCOPY NUMBERMutationCancer researchInternational Journal of Cancer
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