Katharina Wimmer
A5002512643- Genetic factors in colorectal cancer
- Neurofibromatosis and Schwannoma Cases
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Neuroblastoma Research and Treatments
- Chromatin Remodeling and Cancer
- Sarcoma Diagnosis and Treatment
- DNA Repair Mechanisms
- Colorectal Cancer Screening and Detection
- RNA modifications and cancer
- Soft tissue tumor case studies
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- BRCA gene mutations in cancer
- Epigenetics and DNA Methylation
- Colorectal and Anal Carcinomas
- CRISPR and Genetic Engineering
- Meningioma and schwannoma management
- Bone Tumor Diagnosis and Treatments
- Acute Myeloid Leukemia Research
- Ovarian cancer diagnosis and treatment
- PARP inhibition in cancer therapy
- Genomics and Phylogenetic Studies
- RNA Research and Splicing
- Chronic Lymphocytic Leukemia Research
Innsbruck Medical University
2015-2024
Universität Innsbruck
2014-2024
Radboud University Nijmegen
2024
Radboud University Medical Center
2024
University of Würzburg
2020
Oakland University
2018
University of California, Los Angeles
2018
University of California, San Francisco
2018
Karolinska Institutet
2018
Praxis für Humangenetik
2017
PurposeBy incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) establish Legius syndrome (LGSS).MethodsWe used a multistep process, beginning with Delphi method involving global experts subsequently non-NF experts, patients, foundations/patient advocacy groups.ResultsWe reached consensus on minimal clinical genetic diagnosing differentiating NF1 LGSS, which have phenotypic overlap...
Lynch syndrome (LS) is an autosomal dominant disorder caused by a defect in one of the DNA mismatch repair genes: <i>MLH1</i><i>, MSH2, MSH6</i> and <i>PMS2</i>. In last 15 years, increasing number patients have been described with biallelic gene mutations causing referred to as 'constitutional repair-deficiency' (CMMR-D). The spectrum cancers observed this differs from that found LS, about half develop brain tumours, around digestive tract third haematological malignancies. Brain tumours...
Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 SWN by incorporating recent advances in genetics, ophthalmology, neuropathology, neuroimaging.We used a multistep process, beginning Delphi method involving global disease experts subsequently non-neurofibromatosis clinical experts, patients, foundations/patient advocacy groups.We reached consensus on...
PurposeNeurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated mild phenotype without any externally visible tumors.MethodsA total of 135 from 103 unrelated families, carrying constitutional p.Met992del pathogenic variant and clinically assessed using...
Abstract Neurofibromatosis type 1 (NF1), the most common tumor‐predisposing disorder in humans, is caused by defects NF1 tumor‐suppressor gene. Comprehensive mutation analysis applying RNA‐based techniques complemented with FISH achieves detection rates of ∼95% patients. The majority mutations are minor lesions, and ∼5% total gene deletions. We found 13 single‐ and/or multiexon deletions/duplications out 1,050 detected using our approach a cohort 1,100 patients confirmed these changes...
We describe 94 pathogenic NF1 gene alterations in a cohort of 97 Austrian neurofibromatosis type 1 patients meeting the NIH criteria. All mutations were fully characterized at genomic and mRNA levels. Over half carried novel mutations, only quarter recurrent minor-lesion 16 mutational warm spots. The remaining microdeletions (7%) rare recurring mutations. Thirty-six (38%) altered pre-mRNA splicing, fall into five groups: exon skipping resulting from authentic splice sites (type I), cryptic...
Long interspersed (L1) and Alu elements are actively amplified in the human genome through retrotransposition of their RNA intermediates by ∼100 still retrotranspositionally fully competent L1 elements. Retrotransposition can cause inherited disease if such an element is inserted near or within a functional gene. Using direct cDNA sequencing as primary assay for comprehensive NF1 mutation analysis, we uncovered 18 unrelated index patients splicing alterations not readily explained at genomic...
Targeted next-generation-sequencing (NGS) panels have largely replaced Sanger sequencing in clinical diagnostics. They allow for the detection of copy-number variations (CNVs) addition to single-nucleotide variants and small insertions/deletions. However, existing computational CNV methods shortcomings regarding accuracy, quality control (QC), incidental findings, user-friendliness. We developed panelcn.MOPS, a novel pipeline detecting CNVs targeted NGS panel data. Using data from 180...
Abstract Background Genomic disorders are caused by copy number changes that may exhibit recurrent breakpoints processed nonallelic homologous recombination. However, region-specific disease-associated have also been observed which non-recurrent breakpoints. The mechanisms underlying these not yet fully elucidated. Results We analyze large NF1 deletions with as a model to investigate the full spectrum of causative mechanisms, and observe they mediated various DNA double strand break repair...
Abstract There is evidence that 8q amplification associated with poor prognosis in hepatoblastoma. A previous comparative genomic hybridization analysis identified a critical region chromosomal bands 8q11.2–q13. Using restriction landmark scanning combination virtual genome scan, we showed this delineated by sequences within contig NT_008183 of subbands 8q11.22–q11.23. real‐time PCR–based copy number assay 20 hepatoblastomas revealed gain or eight tumors. The expression four genes and...
Nonsense, missense, and even silent mutation-associated exon skipping is recognized in an increasing number of genes as a novel form splicing mutation. The analysis individual mutations this kind can shed light on basic pre-mRNA mechanisms. Using cDNA-based mutation detection analysis, we have identified one missense six nonsense that lead to different extents exon-lacking transcripts neurofibromatosis type 1 (NF1) patients. We confirmed heterologous hybrid minigene context. There evidence...
Constitutional mismatch repair deficiency (CMMRD) is caused by germline pathogenic variants in both alleles of a gene. Patients have an exceptionally high risk numerous pediatric malignancies and benefit from surveillance adjusted treatment. The diversity its manifestation, ambiguous genotyping results, particularly PMS2, can complicate diagnosis preclude timely patient management. Assessment low-level microsatellite instability nonneoplastic tissues detect CMMRD, but current techniques are...