A5067204849- Advanced biosensing and bioanalysis techniques
- Protein Degradation and Inhibitors
- Acute Myeloid Leukemia Research
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Cancer-related Molecular Pathways
- Epigenetics and DNA Methylation
- BRCA gene mutations in cancer
- Prenatal Screening and Diagnostics
Medizinische Hochschule Hannover
2022-2024
Abstract Gain of chromosome 21 (Hsa21) is among the most frequent aneuploidies in leukemia. However, it remains unclear how partial or complete amplifications Hsa21 promote leukemogenesis and why children with Down syndrome (DS) (ie, trisomy 21) are particularly at risk leukemia development. Here, we propose that RUNX1 isoform disequilibrium RUNX1A bias key to DS-associated myeloid (ML-DS). Starting Hsa21-focused CRISPR–CRISPR-associated protein 9 screens, uncovered a strong specific...
Abstract Li‐Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition associated with highly elevated lifetime risk. This and the recommended intense surveillance program represent large psychological burden on families. In order to develop targeted psychosocial interventions, we conducted needs assessment. Adults (≥18 years) LFS were included via regular hospital visits online support groups newsletters. Individuals filled out questionnaire addressing among others: fear of...
Cancer predisposition syndromes (CPS) are rare diseases that associated with an increased risk of cancer due to genetic alterations. At least 8 % all cases childhood attributable CPS [1, 2]. The registry was launched in 2017 learn more about and improve the care those afflicted by these diseases.
Abstract Aneuploidy is a hallmark of cancer, but its complex nature limits our understanding how it drives oncogenesis. Gain chromosome 21 (Hsa21) among the most frequent aneuploidies in leukemia and associated with markedly increased risk. Here, we propose that disequilibrium RUNX1 isoforms key to pathogenesis trisomy (i.e. Down syndrome)-associated myeloid (ML-DS). Hsa21-focused CRISPR-Cas9 screens uncovered strong specific dependency ML-DS. Mechanistic studies revealed excess RUNX1A...