A5072783110- Acute Lymphoblastic Leukemia research
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Acute Myeloid Leukemia Research
- Chronic Myeloid Leukemia Treatments
- Childhood Cancer Survivors' Quality of Life
- DNA Repair Mechanisms
- Cancer-related gene regulation
- Renal and related cancers
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Lymphoma Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Genomics and Rare Diseases
- RNA modifications and cancer
- Renal cell carcinoma treatment
- Neuroblastoma Research and Treatments
- Colorectal Cancer Treatments and Studies
- CAR-T cell therapy research
- Cellular transport and secretion
- CRISPR and Genetic Engineering
- Colorectal Cancer Screening and Detection
- Protein Tyrosine Phosphatases
- Chromatin Remodeling and Cancer
- Digestive system and related health
Princess Máxima Center
2016-2025
University Medical Center Utrecht
2019-2025
Utrecht University
2023-2025
Radboud University Nijmegen
2014-2023
Radboud University Medical Center
2014-2023
Radboud Institute for Molecular Life Sciences
2013-2023
Heidelberg University
2021-2022
University Hospital Heidelberg
2021-2022
Wilhelmina Children's Hospital
2021
University Medical Center
2015-2019
A signature event for organoids Human cancer genomes harbor cryptic mutational signatures that represent the cumulative effects of DNA damage and defects in repair processes. Knowledge how specific originate could have a major impact on diagnosis prevention. One approach to address this question is reproduce experimental systems by genetic engineering then match those found naturally occurring cancers. Drost et al. used CRISPR-Cas9 delete certain enzymes from human colon organoids. In...
Abstract Background The diagnosis of benign renal oncocytomas (RO) and chromophobe cell carcinomas (RCC) based on their morphology remains uncertain in several cases. Methods We have applied Affymetrix GeneChip Mapping 250 K NspI high-density oligoarrays to identify small genomic alterations, which may occur beyond the specific losses entire chromosomes, also HG-U133 Plus2.0 for gene expression profiling. Results By analysing DNA extracted from 30 chRCCs 42 ROs, we confirmed high specificity...
The MITF/TFE subfamily of basic helix–loop–helix leucine-zipper (bHLH-LZ) transcription factors consists four closely related members, TFE3, TFEB, TFEC and MITF, which can form both homo- heterodimers. Previously, we demonstrated that in t(X;1)(p11;q21)-positive renal cell carcinomas (RCCs), the TFE3 gene on X chromosome is disrupted fused to PRCC 1. Here show t(6;11)(p21;q13)-positive RCCs TFEB 6 Alpha 11. AlphaTFEB fusion appears contain all coding exons linked 5′ upstream regulatory...
Recently, we identified 3' end deletions in the EPCAM gene as a novel cause of Lynch syndrome. These truncating allele-specific epigenetic silencing neighboring DNA mismatch repair MSH2 tissues expressing EPCAM. Here screened cohort unexplained Lynch-like families for presence deletions. We 27 independent MSH2-deficient from multiple geographical origins with varying all encompassing EPCAM, but leaving intact. Within The Netherlands and Germany, appeared to represent at least 2.8% 1.1%...
Relapse of acute lymphoblastic leukemia (ALL) remains a leading cause childhood death. Prior studies have shown clonal mutations at relapse often arise from relapse-fated subclones that exist diagnosis. However, the genomic landscape, evolutionary trajectories and mutational mechanisms driving are incompletely understood. In an analysis 92 cases relapsed ALL, incorporating multimodal DNA RNA sequencing, deep digital tracking xenografting to formally define structure, we identify 50...
Sequencing of tumor DNA to detect genetic aberrations is becoming increasingly important, not only refine cancer diagnoses but also predict response targeted treatments. Next-generation sequencing widely adopted in diagnostics for the analyses extracted from routinely processed formalin-fixed, paraffin-embedded tissue, fine-needle aspirates, or cytologic smears. PCR-based enrichment strategies are usually required obtain sufficient read depth reliable detection aberrations. However, although...
Pediatric acute lymphoblastic leukemia (ALL) is the most common childhood cancer and leading cause of cancer-related mortality in children. T cell ALL (T-ALL) represents about 15% pediatric cases considered a high-risk disease. T-ALL often associated with resistance to treatment, including steroids, which are currently cornerstone for treating ALL; moreover, initial steroid response strongly predicts survival cure. However, cellular mechanisms underlying patients poorly understood. In this...