0000000000704761

AUTHOR

Selja Koskensalo

showing 4 related works from this author

No evidence of EMAST in whole genome sequencing data from 248 colorectal cancers.

2021

Microsatellite instability (MSI) is caused by defective DNA mismatch repair (MMR), and manifests as accumulation of small insertions and deletions (indels) in short tandem repeats of the genome. Another form of repeat instability, elevated microsatellite alterations at selected tetranucleotide repeats (EMAST), has been suggested to occur in 50% to 60% of colorectal cancer (CRC), of which approximately one quarter are accounted for by MSI. Unlike for MSI, the criteria for defining EMAST is not consensual. EMAST CRCs have been suggested to form a distinct subset of CRCs that has been linked to a higher tumor stage, chronic inflammation, and poor prognosis. EMAST CRCs not exhibiting MSI have b…

Cancer Researchcongenital hereditary and neonatal diseases and abnormalities3122 Cancerscolorectal cancersuolistosyövätBiologymikrosatelliititmedicine.disease_causeGenomeDNA sequencingEMAST03 medical and health sciences0302 clinical medicineINDEL MutationGeneticsmedicineHumansGenetic TestingIndelneoplasmsGeneticsWhole genome sequencingnext generation sequencingMutationDNA-analyysiWhole Genome Sequencing1184 Genetics developmental biology physiologyMicrosatellite instabilitymedicine.diseasedigestive system diseases3. Good health030220 oncology & carcinogenesisgenome sequencing dataMicrosatellitesyöpätauditDNA mismatch repaircolorectal cancersColorectal NeoplasmsMicrosatellite RepeatsGenes, chromosomescancerREFERENCES
researchProduct

Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

2019

Genomic instability pathways in colorectal cancer (CRC) have been extensively studied, but the role of retrotransposition in colorectal carcinogenesis remains poorly understood. Although retrotransposons are usually repressed, they become active in several human cancers, in particular those of the gastrointestinal tract. Here we characterize retrotransposon insertions in 202 colorectal tumor whole genomes and investigate their associations with molecular and clinical characteristics. We find highly variable retrotransposon activity among tumors and identify recurrent insertions in 15 known cancer genes. In approximately 1% of the cases we identify insertions in APC, likely to be tumor-initi…

0301 basic medicineMaleGenome instabilityMICROSATELLITE INSTABILITYHYPOMETHYLATIONCarcinogenesisColorectal cancergenetic processestransposonitGeneral Physics and AstronomyRetrotransposon02 engineering and technologyKaplan-Meier EstimateGenome0302 clinical medicineCancer genomicslcsh:ScienceGenetics0303 health sciencesGastrointestinal tractMultidisciplinaryQISLAND METHYLATOR PHENOTYPEGastroenterologyfood and beveragesgenomiikkaMiddle Aged021001 nanoscience & nanotechnology3. Good healthGene Expression Regulation NeoplasticCpG sitesyöpägeenit030220 oncology & carcinogenesisDNA methylationAllelic ImbalanceWHOLE-GENOMEFemaleSVA ELEMENTS0210 nano-technologyColorectal NeoplasmsScience3122 Cancersinformation scienceGenomicssuolistosyövätBiologyGeneral Biochemistry Genetics and Molecular BiologyArticleGenomic Instability03 medical and health sciencesCell Line TumormedicineHumansAged030304 developmental biologySOMATIC L1 RETROTRANSPOSITIONCpG Island Methylator PhenotypeGene Expression ProfilingfungiMicrosatellite instabilityGeneral ChemistryDNA Methylationmedicine.diseaseGENEMutagenesis Insertional030104 developmental biologyLong Interspersed Nucleotide ElementsCPGhealth occupationsCancer researchlcsh:QCpG Islands3111 BiomedicineCaco-2 Cells
researchProduct

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer

2018

Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite-stable (MSS) tumors, yet they have not been as comprehensively studied. To identify candidate driver genes affected by point mutations in MSI CRC, we ranked genes based on mutation significance while correcting for replication timing and gene expression utilizing an algorithm, MutSigCV. Somatic point mutation data from the exome kit-targeted area from 24 exome-sequenced sporadic MSI CRCs and respective normals, and 12 whole-genome-sequenced sporadic MSI CR…

0301 basic medicineMedicine (General)Candidate geneclinical evaluationgenetic identificationgenetic analysisQH426-470medicine.disease_causeChromatin Epigenetics Genomics & Functional Genomicswhole exome sequencingddc:590mutator genesingle nucleotide polymorphismddc:576.5Gene Regulatory NetworksExomeExome sequencingCancercancer cellGeneticsMutation1184 Genetics developmental biology physiology3. Good healthgenetic codesyöpägeenitpriority journalMolecular Medicinewild typepoint mutationSystems MedicineColorectal Neoplasmscongenital hereditary and neonatal diseases and abnormalitiesddc:025.063/5703122 Cancerscancer geneticsSingle-nucleotide polymorphismcolorectal cancerBiologygene frequencyta3111mikrosatelliititcolony formationR105W geneArticle03 medical and health sciencesR5-920Gene interactionReportGeneticsmedicineHumanscontrolled studyhumanneoplasmspaksusuolisyöpäPoint mutationgene interactionhuman celltumor-related geneMicrosatellite instabilityMolecular Sequence AnnotationSequence Analysis DNAmedicine.diseaseta3122digestive system diseaseshuman tissueSTK38L gene030104 developmental biologyvalidation processgene expressionSMARCB1 genemicrosatellite instability3111 Biomedicinegene replicationReports
researchProduct

Genetic and Epigenetic Characteristics of Inflammatory Bowel Disease-Associated Colorectal Cancer.

2021

doi: 10.1053/j.gastro.2021.04.042 Background & Aims Inflammatory bowel disease (IBD) is a chronic, relapsing inflammatory disorder associated with an elevated risk of colorectal cancer (CRC). IBD-associated CRC (IBD-CRC) may represent a distinct pathway of tumorigenesis compared to sporadic CRC (sCRC). Our aim was to comprehensively characterize IBD-associated tumorigenesis integrating multiple high-throughput approaches, and to compare the results with in-house data sets from sCRCs. Methods Whole-genome sequencing, single nucleotide polymorphism arrays, RNA sequencing, genome-wide methylation analysis, and immunohistochemistry were performed using fresh-frozen and formalin-fixed tissue sam…

0301 basic medicineEpigenomicsMaleColorectal cancerDNA Mutational AnalysisPHENOTYPEmedicine.disease_causeEpigenesis GeneticPATHWAY0302 clinical medicineMUTATIONAL PROCESSESDRIVERSTumor MicroenvironmentFinlandOligonucleotide Array Sequence AnalysisAged 80 and overDNA methylationMETHYLATIONGastroenterologyWnt signaling pathwaytulehdukselliset suolistosairaudetHigh-Throughput Nucleotide SequencingMiddle AgedDNA-metylaatio3. Good healthCell Transformation NeoplasticepigenetiikkaDNA methylationCONSENSUS MOLECULAR SUBTYPES030211 gastroenterology & hepatologyFemaleconsensus molecular subtypeKRASgeneettiset tekijätAdultEpithelial-Mesenchymal TransitionINTESTINAL INFLAMMATIONConsensus Molecular Subtype3122 Cancersepithelial-mesenchymal transitioncolorectal cancersuolistosyövätBiology3121 Internal medicinePolymorphism Single Nucleotide03 medical and health sciencesinflammatory bowel diseaseCOLONAXIN2medicineBiomarkers TumorHumansEpithelial–mesenchymal transitionEpigeneticsneoplasmsSIGNATURESAgedNeoplasm StagingColorectal CancerHepatologyWhole Genome SequencingSequence Analysis RNAGene Expression ProfilingInflammatory Bowel DiseaseDNA Methylationmedicine.diseaseInflammatory Bowel DiseasesEVOLUTIONdigestive system diseases030104 developmental biologyMutationCancer research3111 BiomedicineColitis-Associated NeoplasmsNeoplasm GradingCarcinogenesisTranscriptomeGastroenterology
researchProduct