0000000000248258

AUTHOR

Sakari Knuutila

showing 4 related works from this author

DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression

2018

Background: DNA mismatch repair (MMR) defects are a major factor in colorectal tumorigenesis in Lynch syndrome (LS) and 15% of sporadic cases. Some adenomas from carriers of inherited MMR gene mutations have intact MMR protein expression implying other mechanisms accelerating tumorigenesis. We determined roles of DNA methylation changes and somatic mutations in cancer-associated genes as tumorigenic events in LS-associated colorectal adenomas with intact MMR. Methods: We investigated 122 archival colorectal specimens of normal mucosae, adenomas and carcinomas from 57 LS patients. MMR-deficient (MMR-D, n 49) and MMR-proficient (MMR-P, n 18) adenomas were of particular interest and were inter…

0301 basic medicineMaleResearch paperMICROSATELLITE INSTABILITYHYPOMETHYLATIONDNA mismatch repairPHENOTYPEmedicine.disease_causeEpigenesis Genetic0302 clinical medicineCOLORECTAL ADENOMASCDKN2APromoter Regions Geneticcolorectal adenomaDNA methylationLINE-1 methylationTumor suppressorGeneral MedicineMethylationMiddle AgedCANCERTUMORSLynch syndromeDNA-metylaatio3. Good healthDEFICIENCY030220 oncology & carcinogenesisDNA methylationsyöpätauditFemaleColorectal adenomaAdultcongenital hereditary and neonatal diseases and abnormalitiesAdenomatumor suppressorsuolistosyövätColorectal adenomaBiologycomplex mixturesGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesBRAF MUTATIONmedicineHumansLynchin oireyhtymäAgedTumor Suppressor ProteinsMicrosatellite instabilityDNAUNE-1 methylationta3122medicine.diseaseGENEColorectal Neoplasms Hereditary Nonpolyposisdigestive system diseasestumorigenesisCOPY NUMBER030104 developmental biologyLynch syndromeLong Interspersed Nucleotide Elements3121 General medicine internal medicine and other clinical medicineMutationTumorigenesisCancer research3111 BiomedicineTumotigenesismutationCarcinogenesisEBioMedicine
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1q gain and CDT2 overexpression underlie an aggressive and highly proliferative form of Ewing sarcoma

2012

12 páginas, 6 figuras, 1 tabla.-- et al.

AdultMaleCancer ResearchCandidate geneAdolescentDNA Copy Number VariationsUbiquitin-Protein Ligasesclinical outcomeBone NeoplasmsSarcoma EwingBiologyBioinformaticsPolymorphism Single NucleotideTranscriptomeIn vivoCell Line TumorGeneticsmedicineHumansChildMolecular BiologymicroarraysAgedCell ProliferationAged 80 and overCell CycleComputational BiologyInfantNuclear ProteinsMiddle Agedmedicine.disease1q GainIn vitroChromosomes Human Pair 1Child PreschoolCancer researchImmunohistochemistryFemaleCDT2SarcomaDNA microarrayEwing sarcomaComparative genomic hybridization
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Array comparative genomic hybridization analysis of chromosomal imbalances and their target genes in gastrointestinal stromal tumors.

2007

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. The tumors characteristically harbor KIT or PDGFRA mutations, and mutant tumors respond to imatinib mesylate (Glivectrade mark). Chromosomal imbalances resulting in altered gene dosage are known to have a role in the molecular pathogenesis of these tumors, but the target genes remain to be identified. The present study aimed to identify some of these genes. In total, 35 GIST samples were screened for chromosomal imbalances by array-based comparative genomic hybridization. A cDNA array was used to define the minimal common overlapping areas of DNA copy number change. Eight confirmative, …

AdultMaleCancer ResearchStromal cellGastrointestinal Stromal TumorsGene DosageBiologyGenomeGene dosageGene FrequencyGeneticsmedicineNeoplasmChromosomes HumanHumansGeneAllele frequencyAgedOligonucleotide Array Sequence AnalysisGeneticsAged 80 and overChromosome AberrationsGenome HumanNucleic Acid HybridizationMiddle Agedmedicine.diseaseHuman geneticsFemaleComparative genomic hybridizationGenes NeoplasmGenes, chromosomescancer
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Frequent deletion ofCDKN2Aand recurrent coamplification ofKIT,PDGFRA, andKDRin fibrosarcoma of bone-An array comparative genomic hybridization study

2009

Very little is known about the genetics of fibrosarcoma (FS) of bone. We applied array comparative genomic hybridization (CGH) to identify genes and genomic regions with potential role in the pathogenesis of this tumor. Seventeen patients with FS of bone were included in the study. Array CGH analysis was carried out in 13 fresh frozen tissue specimens from 11 of these patients (nine primary tumors and four local recurrences). DNA was extracted and hybridizations were performed on Agilent 244K CGH oligoarrays. The data were analyzed using Agilent DNA Analytics Software. The number of changes per patient ranged from 0 to 132 (average = 43). Losses were most commonly detected at 6q, 8p, 9p, 10…

Cancer ResearchPDGFRBPDGFRABiologymedicine.diseaseCHD1LCDKN2AGene duplicationDNA methylationGeneticsmedicineCancer researchFibrosarcomaComparative genomic hybridizationGenes, Chromosomes and Cancer
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