A5002949763- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Cancer Immunotherapy and Biomarkers
- Colorectal Cancer Treatments and Studies
- Colorectal Cancer Screening and Detection
- Immunodeficiency and Autoimmune Disorders
- T-cell and B-cell Immunology
- Proteoglycans and glycosaminoglycans research
- Glycosylation and Glycoproteins Research
- Multiple and Secondary Primary Cancers
- Pregnancy and preeclampsia studies
- Genomics and Rare Diseases
- Immunotherapy and Immune Responses
- Birth, Development, and Health
- Connective tissue disorders research
- Blood disorders and treatments
- Reproductive System and Pregnancy
German Cancer Research Center
2020-2025
University Hospital Heidelberg
2020-2025
Heidelberg University
2017-2025
Research Institute of Molecular Pathology
2023
Vienna Biocenter
2023
Medical University of Vienna
2023
Karolinska Institutet
2021
Numerous observational and molecular studies focusing on Lynch syndrome (LS) have revealed significant variation in the phenotype characteristics among carriers of pathogenic variants mismatch repair genes (path_MMR). Recently, we demonstrated that colorectal carcinomas path_MSH6 exhibit fewer insertion/deletion mutations compared to CRCs from other MMR groups, raising question whether MSH6-mutated might display a relatively lower degree microsatellite instability (MSI). Mutations at twenty...
Immune checkpoint blockade (ICB) shows remarkable clinical effects in patients with metastatic microsatellite-unstable (MSI) cancer. However, markers identifying potential non-responders are missing. We examined the prevalence of Beta-2-microglobulin ( B2M) mutations, a common immune evasion mechanism, stage IV MSI gastrointestinal cancer and its influence on pattern patients’ survival under ICB. Twenty-five metastatic, adenocarcinoma were included. Eighteen received ICB pembrolizumab one...
Lynch syndrome (LS) is caused by a pathogenic heterozygous germline variant in one of the DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6 or PMS2. LS-associated colorectal carcinomas (CRCs) are characterized MMR deficiency and accumulation multiple insertions/deletions at coding microsatellites (cMS). deficiency-induced variants defined cMS loci have driver function promote tumorigenesis. Notably, PMS2 carriers face only slightly increased risk developing CRC. Here, we investigate whether...
Abstract Background Numerous observational and molecular studies focusing on Lynch syndrome (LS) have revealed significant variation in the phenotype characteristics among carriers of pathogenic variants mismatch repair genes ( path_MMR ). Recently, we demonstrated that colorectal carcinomas path_MSH6 exhibit fewer insertion/deletion mutations compared to CRCs from other MMR groups, raising question whether MSH6 -mutated might display a lower degree microsatellite instability (MSI). Methods...
BackgroundB-cell affinity maturation in germinal center relies on regulated actin dynamics for cell migration and cell-to-cell communication. Activating mutations the cytoskeletal regulator Wiskott-Aldrich syndrome protein (WASp) cause X-linked neutropenia (XLN) with reduced serum level of IgA.ObjectiveWe investigated role B cells XLN pathogenesis.MethodsWe examined from 6 patients, 2 whom had novel R268W S271F WASp. By using immunized mouse models that carry corresponding patient mutations,...
The HLA system represents a central component of the antigen presentation machinery. As every patient possesses defined set molecules, only certain antigens can be presented on cell surface. Thus, studying type-dependent improve understanding variation in susceptibility to various diseases, including infectious diseases and cancer. In archival formalin-fixed paraffin-embedded (FFPE) tissue, type is difficult analyze because fragmentation DNA, hindering application commonly used assays that...
Regular colonoscopy even with short intervals does not prevent all colorectal cancers (CRC) in Lynch syndrome (LS). In the present study, we asked whether detected under regular surveillance (incident cancers) are phenotypically different from at first (prevalent cancers). We analyzed clinical, histological, immunological and mutational characteristics, including panel sequencing high-throughput coding microsatellite (cMS) analysis, 28 incident 67 prevalent LS CRCs (n total = 95). Incident...
Abstract Genetic predisposition is one of the major measurable cancer risk factors. Affected patients have an enhanced for and require life-long surveillance. However, current screening measures are mostly invasive only available certain tumor types. Particularly in hereditary syndromes, liquid biopsy, addition to monitoring therapy response assessing minimal residual disease, holds great potential surveillance at precancerous stage potentially even diagnostics. Exploring these options...
ABSTRACT Background Regular colonoscopy even with short intervals does not prevent all colorectal cancers (CRC) in Lynch syndrome (LS). In the present study, we asked whether detected under regular surveillance (incident cancers) are phenotypically different from at first (prevalent cancers). Methods We analyzed clinical, histological, immunological and mutational characteristics, including panel sequencing high through-put coding microsatellite (cMS) analysis, 28 incident 67 prevalent LS...
The human placenta comes in direct contact with maternal cells and blood at two interfaces. syncytiotrophoblast layer is surrounded by the intervillous space, extravillous trophoblasts breach vascular endothelial upon spiral artery remodeling invasion of decidual veins. However, little knowledge exists about EVT-derived secreted factors, which may serve as predictive markers for obstetrical syndromes or shape local environment maternal-fetal interface. Here, we define EVT-associated genes...