A5060464938- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Cancer Cells and Metastasis
- BRCA gene mutations in cancer
- Lung Cancer Treatments and Mutations
- Prenatal Screening and Diagnostics
- Pancreatic and Hepatic Oncology Research
- Genomics and Chromatin Dynamics
- DNA Repair Mechanisms
- Single-cell and spatial transcriptomics
- Prostate Cancer Treatment and Research
- Epigenetics and DNA Methylation
- Molecular Biology Techniques and Applications
- Colorectal Cancer Treatments and Studies
- Microtubule and mitosis dynamics
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Nuclear Receptors and Signaling
- Cancer-related Molecular Pathways
- RNA modifications and cancer
- Chromosomal and Genetic Variations
- Endometrial and Cervical Cancer Treatments
- Colorectal and Anal Carcinomas
- Glioma Diagnosis and Treatment
- Acute Myeloid Leukemia Research
Medical University of Graz
2015-2024
University of Graz
2009-2023
Praxis für Humangenetik
2019
Universitätsklinik für Frauenheilkunde und Geburtshilfe
2018
Institute of Human Genetics
2013
University Medical Center Hamburg-Eppendorf
2013
Universität Hamburg
2013
University of Regensburg
2008
Technical University of Munich
2004-2007
Klinikum rechts der Isar
2007
Circulating tumor cells (CTC) released into blood from primary cancers and metastases reflect the current status of genotypes, which are prone to changes. Here, we conducted first comprehensive genomic profiling CTCs using array-comparative hybridization (CGH) next-generation sequencing. We used U.S. Food Drug Administration-cleared CellSearch system, detected in 21 37 patients (range, 1-202/7.5 mL sample) with stage IV colorectal carcinoma. In total, were able isolate intact six identified...
Patients with prostate cancer may present metastatic or recurrent disease despite initial curative treatment. The propensity of to spread the bone has limited repeated sampling tumor deposits. Hence, considerably less is understood about this lethal disease, as it not commonly studied. Here we explored whole-genome sequencing plasma DNA scan genomes these patients non-invasively.We wanted make analysis from amenable clinical routine applications and developed an approach based on a benchtop...
Hematogenous spread of glioblastoma multiforme (GBM) might be responsible for reported extracranial metastases and transmission GBM by organ transplantation.
Deregulation of transcription factors (TFs) is an important driver tumorigenesis, but non-invasive assays for assessing factor activity are lacking. Here we develop and validate a minimally invasive method TF based on cell-free DNA sequencing nucleosome footprint analysis. We analyze whole genome data >1,000 samples from cancer patients healthy controls using bioinformatics pipeline developed by us that infers accessibility binding sites fragmentation patterns. observe patient-specific as...
Monoclonal antibodies targeting the Epidermal Growth Factor Receptor (EGFR), such as cetuximab and panitumumab, have evolved to important therapeutic options in metastatic colorectal cancer (CRC). However, almost all patients with clinical response anti-EGFR therapies show disease progression within a few months little is known about mechanism timing of resistance evolution. Here we analyzed plasma DNA from ten treated therapy by whole genome sequencing (plasma-Seq) ultra-sensitive deep...
With the increasing number of available predictive biomarkers, clinical management cancer is becoming increasingly reliant on accurate serial monitoring tumor genotypes. We tested whether tumor-specific copy changes can be inferred from peripheral blood patients with cancer. To this end, we determined plasma DNA size distribution and fraction mutated fragments deep sequencing an ultrasensitive mutation-detection method, i.e., Beads, Emulsion, Amplification, Magnetics (BEAMing) assay. When...
Abstract Genomic alterations in metastatic prostate cancer remain incompletely characterized. Here we analyse 493 cases from the TCGA database and perform whole-genome plasma sequencing on 95 samples derived 43 patients with cancer. From these samples, identify established driver aberrations a cancer-related gene nearly all (97.7%), including fusions ( TMPRSS2:ERG ), focal deletions PTEN , RYBP SHQ1 ) amplifications AR MYC ). In serial analyses, observe changes 40% of cases. The mean time...
The management of metastatic breast cancer needs improvement. As clinical evaluation is not very accurate in determining the progression disease, analysis circulating tumor DNA (ctDNA) has evolved to a promising noninvasive marker disease evolution. Indeed, ctDNA was reported represent highly sensitive biomarker directly reflecting burden and dynamics. However, at present little known about dynamic range patients with cancer. In this study, 74 plasma samples from 58 metastasized were...
Abstract BACKGROUND Recent progress in the analysis of cell-free DNA fragments [cell-free circulating tumor (ctDNA)] now allows monitoring genomes by noninvasive means. However, previous studies with plasma from patients cancer demonstrated highly variable allele frequencies ctDNA. The comprehensive is greatly facilitated when has increased amounts Therefore, a fast and cost-effective prescreening method to identify such samples without knowledge about alterations respective genome could...
Heterogeneity in the genome copy number of tissues is particular importance solid tumor biology. Furthermore, many clinical applications such as pre-implantation and non-invasive prenatal diagnosis would benefit from ability to characterize individual single cells. As amount DNA cells so small, several PCR protocols have been developed an attempt achieve unbiased amplification. Many these approaches are suitable for subsequent cytogenetic analyses using conventional methodologies comparative...
Clinical DNA is often available in limited quantities requiring whole-genome amplification for subsequent genome-wide assessment of copy-number variation (CNV) by array-CGH. In pre-implantation diagnosis and analysis micrometastases, even merely single cells are analysis. However, procedures allowing high-resolution analyses CNVs from well below resolution limits conventional cytogenetics lacking. Here, we applied products cell pools (5 or 10 cells) patients with developmental delay, cancer...
<h3>Background</h3> Therapy related myeloid neoplasms (t-MNs) are complex diseases originating from an interplay between exogenous toxicities and a susceptible organism. It has been hypothesised that in subset of cases t-MNs develop the context hereditary cancer predisposition syndromes. <h3>Methods</h3> The study systematically evaluated pedigrees patients with for incidences possibility syndrome. In addition, mutational analyses were performed using constitutional DNA index patients,...
Abstract Familial colorectal cancer type X (FCCTX) is characterized by clinical features of hereditary non-polyposis with a yet undefined genetic background. Here we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred FCCTX, using integrative genomics strategy. Compared wild-type protein, V78M demonstrates significantly increased MAPK/Erk and PI3K/Akt signalling as well cell cycle progression SEMA4A-deficient HCT-116 cells. In cohort 53 patients depict two further...
Single circulating tumor cells (CTCs) or microemboli (CTMs) are potential biomarkers of renal cell cancer (RCC), however studies CTCs/CTMs in RCC limited. In this pilot study we aimed to evaluate a novel blood filtration technique suited for cytomorphological classification, immunocytochemical and molecular characterization filtered, so called non-hematologic (CNHCs) - putative patients with RCC.Blood 40 tumors was subjected ScreenCell filtration. CNHCs were classified according criteria....