0000000000359763

AUTHOR

Sabine Merkelbach-bruse

showing 3 related works from this author

TargetPlex FFPE-Direct DNA Library Preparation Kit for SiRe NGS panel: An international performance evaluation study

2021

AimNext generation sequencing (NGS) represents a key diagnostic tool to identify clinically relevant gene alterations for treatment-decision making in cancer care. However, the complex manual workflow required for NGS has limited its implementation in routine clinical practice. In this worldwide study, we validated the clinical performance of the TargetPlex FFPE-Direct DNA Library Preparation Kit for NGS analysis. Impressively, this new assay obviates the need for separate, labour intensive and time-consuming pre-analytical steps of DNA extraction, purification and isolation from formalin-fixed paraffin embedded (FFPE) specimens in the NGS workflow.MethodsThe TargetPlex FFPE-Direct DNA Libr…

0301 basic medicineLibraryComputer scienceGenomicsComputational biologylung neoplasmsDNA sequencingPathology and Forensic Medicine03 medical and health sciences0302 clinical medicineHumansmolecular biologymolecularbiomarkers; lung neoplasms; molecular; molecular biology; pathology; tumourGene LibraryParaffin EmbeddingtumourSireClinical performancebiomarkersHigh-Throughput Nucleotide SequencingGeneral MedicineGenomicsDNA extractionParaffin embeddedlung neoplasm030104 developmental biologyWorkflow030220 oncology & carcinogenesisMutationbiomarkerpathology
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Associations between polymorphisms in the thymidylate synthase gene, the expression of thymidylate synthase mRNA and the microsatellite instability p…

2004

Microsatellite instability (MSI) is a characteristic feature of up to 15% of colorectal cancers (CRC) and is associated with better response to adjuvant chemotherapy with 5-fluorouracil (5-FU). In this study we have investigated the association between the MSI status and the mRNA expression as well as the polymorphisms of the cellular target of 5-FU therapy, thymidylate synthase. Polymorphisms in the 3'- and the 5'-UTR of the TS gene were determined by a PCR assay in 53 colorectal cancer tissues. TS mRNA was quantified by real-time RT-PCR. Data were correlated with the MSI phenotype. There was neither a significant correlation between the polymorphisms in the TS gene and the MSI phenotype n…

AdultMaleUntranslated regionCancer ResearchGene ExpressionBiologyThymidylate synthaseGene expressionGenotypeBiomarkers TumormedicineHumansRNA MessengerGeneAgedAged 80 and overPolymorphism GeneticMicrosatellite instabilityCancerThymidylate SynthaseGeneral MedicineMiddle AgedPrognosismedicine.diseasePhenotypeMolecular biologydigestive system diseasesOncologyChemotherapy Adjuvantbiology.proteinCancer researchFemaleFluorouracil5' Untranslated RegionsColorectal NeoplasmsMicrosatellite RepeatsOncology Reports
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Efficacy of Immune Checkpoint Inhibitors Alone or in Combination With Chemotherapy in NSCLC Harboring ERBB2 Mutations

2021

Abstract Introduction In contrast to other driver mutations, no targeted therapies have yet been approved in ERBB2-mutated NSCLC (HER2mu NSCLC). Nevertheless, several compounds have revealed promising early efficacy data, which need to be evaluated in the context of current standard approaches. Although data on the efficacy of immune checkpoint inhibitors (ICIs) in second or subsequent lines of treatment remain limited and conflicting, there are virtually no data on patient outcome under ICI/platinum-doublet combinations in the first-line setting. Methods We retrospectively evaluated outcomes of patients with HER2mu NSCLC treated with ICI alone or in combination with chemotherapy within the…

Pulmonary and Respiratory MedicineOncologymedicine.medical_specialtyLung NeoplasmsStandard of careReceptor ErbB-2Immune checkpoint inhibitorsmedicine.medical_treatmentMedizinPatient characteristicsContext (language use)Internal medicineAntineoplastic Combined Chemotherapy ProtocolsmedicineHumansGenomic medicineLung cancerImmune Checkpoint InhibitorsRetrospective StudiesChemotherapybusiness.industryImmunotherapymedicine.diseaseOncologyMutationbusiness
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