Search results for " mutation analysis"

showing 3 items of 3 documents

Prevalence and clinical association of gene mutations through multiplex mutation testing in patients with NSCLC

2017

[EN] Background Reported prevalence of driver gene mutations in non-small-cell lung cancer (NSCLC) is highly variable and clinical correlations are emerging. Using NSCLC biomaterial and clinical data from the European Thoracic Oncology Platform Lungscape iBiobank, we explore the epidemiology of mutations and association to clinicopathologic features and patient outcome (relapse-free survival, time-to-relapse, overall survival). Methods Clinically annotated, resected stage I¿III NSCLC FFPE tissue was assessed for gene mutation using a microfluidics-based multiplex PCR platform. Mutant-allele detection sensitivity is¿>1% for most of the ~150 (13 genes) mutations covered in the multiplex test.…

0301 basic medicineOncologyMaleLung NeoplasmsDNA Mutational AnalysisKRAS MUTATIONSGene mutationmedicine.disease_cause0302 clinical medicinemultiplex mutation analysisCarcinoma Non-Small-Cell LungMultiplex mutation analysisPrevalenceMultiplexAnaplastic Lymphoma KinaseHETEROGENEITYAged 80 and overMutationSmokingHematologyMiddle AgedProto-Oncogene Proteins c-metProgression-Free SurvivalOncology030220 oncology & carcinogenesisAdenocarcinomaFemaleKRASPREDICT SURVIVALAdultmedicine.medical_specialtyEGFRCELL LUNG-CANCERPrognosis molecular stagingprognosis molecular stagingEGFR KRAS PIK3CAVALIDATION03 medical and health sciencesYoung AdultInternal medicineMultiplex polymerase chain reactionmedicineKRASTYROSINE KINASE INHIBITORSHumansProgression-free survivalLung cancerAgedNeoplasm Stagingbusiness.industryMICROBIOLOGIAADENOCARCINOMAAMPLIFICATIONPIK3CAmedicine.disease030104 developmental biologynon-small-cell lung cancerMutationOVEREXPRESSIONbusinessMultiplex Polymerase Chain ReactionNon-small-cell lung cancerAnnals of Oncology
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Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent

2006

Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by mutations in the gene coding for the low density lipoprotein receptor (LDL-R). It is characterized by a high concentration of low density lipoprotein (LDL), which frequently gives rise to premature coronary artery disease. We studied the probands of five FH Sicilian families with 'definite' FH and one proband of Paraguayan descent with homozygous FH who has been treated with an effective living-donor liver transplantation. In order to seek the molecular defect in these six families, we used direct sequencing to define the molecular defects of the LDL-R gene responsible for the disease. We described three…

AdultProbandhypercholesterolemia LDL receptor gene mutation analysis direct sequencing splicing living-donor transplantationSettore MED/09 - Medicina InternaDNA Mutational AnalysisDirect sequencingHypercholesterolemiaFamilial hypercholesterolemiaBiologyGene mutationSplicingmedicine.disease_causeFrameshift mutationHyperlipoproteinemia Type IIExonGeneticsmedicineHumansMissense mutationRNA MessengerChildSicilyCells CulturedLiving-donor transplantationLDL receptor geneGeneticsMutationIntronExonsGeneral MedicineMiddle Agedmedicine.diseaseLipidsMolecular biologyPedigreeDirect sequencing; Hypercholesterolemia; LDL receptor gene; Living-donor transplantation; Mutation analysis; SplicingMutation analysisReceptors LDLParaguayChild PreschoolMutationBiological Assay
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Kirsten ras mutations in patients with colorectal cancer: the 'RASCAL II' study

2001

Researchers worldwide with information about the Kirsten ras (Ki-ras) tumour genotype and outcome of patients with colorectal cancer were invited to provide that data in a schematized format for inclusion in a collaborative database called RASCAL (The Kirsten ras in-colorectal-cancer collaborative group). Our results from 2721 such patients have been presented previously and for the first time in any common cancer, showed conclusively that different gene mutations have different impacts on outcome, even when the mutations occur at the same site on the genome. To explore the effect of Ki-ras mutations at different stages of colorectal cancer, more patients were recruited to the database, whi…

MaleOncologyCancer ResearchPathologyMultivariate analysisDatabases FactualSettore MED/06 - Oncologia MedicaColorectal cancerGene mutationmedicine.disease_cause0302 clinical medicineGenotypeColorectal cancer Ki-ras mutationRegistriesAged 80 and over0303 health sciencesMutationValineMiddle Aged3. Good healthKRAS Mutation Analysismedicine.anatomical_structureOncologyPresented by the Kirsten ras in-colorectal-cancer collaborative group030220 oncology & carcinogenesisFemaleColorectal NeoplasmsAdultmedicine.medical_specialtyAdolescentGenotypeoverall survivalMutation MissenseRectumcolorectal cancerDisease-Free Survival03 medical and health sciencesInternal medicinemedicineHumansPoint MutationK-rasCodoncolorectal cancer; K-ras; prognosis; overall survivalAgedNeoplasm StagingProportional Hazards Models030304 developmental biologybusiness.industryCancermedicine.diseaseSurvival AnalysisGenes rasMultivariate Analysisprognosisbusiness
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