0000000000243075

AUTHOR

Martina Kirchner

showing 3 related works from this author

The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients.

2021

ABSTRACT Background and aims Due to the high load of immunogenic frameshift neoantigens, tumors arising in individuals with Lynch syndrome (LS), the most common inherited colorectal cancer (CRC) syndrome, are characterized by a pronounced immune infiltration. However, the immune status of normal colorectal mucosa in LS is not well characterized. We assessed the immune infiltrate in tumor-distant normal colorectal mucosa from LS CRC patients, sporadic microsatellite-unstable (MSI) and microsatellite-stable (MSS) CRC patients, and cancer-free LS carriers. Methods CD3-positive, FOXP3-positive and CD8-positive T cells were quantified in 219, 233 and 201 formalin-fixed paraffin-embedded (FFPE) n…

MaleCD3 ComplexColorectal cancerT-LymphocytesCD8-Positive T-LymphocytesT-Lymphocytes Regulatory0302 clinical medicineIntestinal MucosaMismatch Repair Endonuclease PMS2Aged 80 and over0303 health sciencesbiologyGastroenterologyFOXP3Forkhead Transcription FactorsMiddle AgedLynch syndrome3. Good healthDNA-Binding Proteinsmedicine.anatomical_structureMutS Homolog 2 Protein030220 oncology & carcinogenesisFemaleMicrosatellite InstabilityMutL Protein Homolog 1AdultHeterozygoteColonT cellCD303 medical and health sciencesYoung AdultImmune systemmedicineHumansLymphocyte Count030304 developmental biologyAgedHepatologybusiness.industryCarcinomaRectumCancerMicrosatellite instabilitymedicine.diseaseColorectal Neoplasms Hereditary NonpolyposisCancer researchbiology.proteinbusinessTranscriptomeGastroenterology
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Validating comprehensive next-generation sequencing results for precision oncology : The NCT/DKTK molecularly aided stratification for tumor eradicat…

2022

Purpose Rapidly evolving genomics technologies, in particular comprehensive next-generation sequencing (NGS), have led to exponential growth in the understanding of cancer biology, shifting oncology toward personalized treatment strategies. However, comprehensive NGS approaches, such as whole-exome sequencing, have limitations that are related to the technology itself as well as to the input source. Hence, clinical implementation of comprehensive NGS in a quality-controlled diagnostic workflow requires both the standardization of sequencing procedures and continuous validation of sequencing results by orthogonal methods in an ongoing program to enable the determination of key test parameter…

0301 basic medicineCancer Researchmedicine.medical_specialtyStandardizationComputer sciencePersonalized treatmentMedizinGenomicsDNA sequencing03 medical and health sciences030104 developmental biology0302 clinical medicineWorkflowOncologyPrecision oncology030220 oncology & carcinogenesismedicineMedical physicsCancer biology
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RSPO2 gene rearrangement: a powerful driver of β-catenin activation in liver tumours

2019

ObjectiveWe aimed at the identification of genetic alterations that may functionally substitute for CTNNB1 mutation in ß-catenin-activated hepatocellular adenomas (HCAs) and hepatocellular carcinoma (HCC).DesignLarge cohorts of HCA (n=185) and HCC (n=468) were classified using immunohistochemistry. The mutational status of the CTNNB1 gene was determined in ß-catenin-activated HCA (b-HCA) and HCC with at least moderate nuclear CTNNB1 accumulation. Ultra-deep sequencing was used to characterise CTNNB1wild-type and ß-catenin-activated HCA and HCC. Expression profiling of HCA subtypes was performed.ResultsA roof plate-specific spondin 2 (RSPO2) gene rearrangement resulting from a 46.4 kb microd…

Gene expression profilingGastroenterologyCancer researchWnt signaling pathwayTelomerase reverse transcriptaseGene rearrangementHCCSBiologyRSPO2Malignant transformationRSPO2 GeneGut
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