Illja J. Diets
A5086911676- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Childhood Cancer Survivors' Quality of Life
- Chromatin Remodeling and Cancer
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Viral-associated cancers and disorders
- Lymphoma Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Renal and related cancers
- Neuroendocrine Tumor Research Advances
- Peptidase Inhibition and Analysis
- Colorectal Cancer Treatments and Studies
- RNA and protein synthesis mechanisms
- Cancer Mechanisms and Therapy
- Protein Tyrosine Phosphatases
- Renal cell carcinoma treatment
- Acute Lymphoblastic Leukemia research
- Virus-based gene therapy research
- Cancer-related gene regulation
- Genomics and Chromatin Dynamics
- Epigenetics and DNA Methylation
- Gestational Trophoblastic Disease Studies
Radboud University Nijmegen
2015-2024
Radboud University Medical Center
2015-2024
Radboud Institute for Molecular Life Sciences
2016-2023
University Medical Center
2016-2022
Purpose: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the cause is still unknown. We studied yield pathogenic mutations by applying whole-exome sequencing on selected cohort cancer.Experimental Design: To identify in known novel cancer-predisposing genes, we performed trio-based germline DNA 40 their parents. These were diagnosed had at least one following features: (1) intellectual disability and/or congenital anomalies, (2) multiple...
Two percent of patients with Wilms tumors have a positive family history. In many these cases the genetic cause remains unresolved. By applying germline exome sequencing in two families affected individuals tumors, we identified truncating mutations TRIM28 . Subsequent mutational screening and tumor DNA 269 children by was performed, revealed seven additional mutations, one individual somatic mutation TRIM28. encodes complex scaffold protein involved different processes, including gene...
Neurodevelopmental disorders with intellectual disability (ND/ID) are a heterogeneous group of diseases driving lifelong deficits in cognition and behavior no definitive cure. X-linked disorder 105 (XLID105, #300984; OMIM) is ND/ID driven by hemizygous variants the
Abstract Variants in ribosomal protein (RP) genes drive Diamond-Blackfan anemia (DBA), a bone marrow failure syndrome that can also predispose individuals to cancer. Inherited and sporadic RP gene variants are linked variety of phenotypes, including malignancy, with no anemia. Here we report an individual diagnosed DBA carrying variant the 5′UTR RPL9 (uL6). Additionally, two from family multiple cancer incidences missense variant. Analysis cells these reveals despite both driving pre-rRNA...
Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a subtype of characterized by unique clinical and histological presentation. Because the rare nature this disease, few large-scale studies are available. We conducted cohort study in which patients were identified Netherlands Cancer Registry Southeast between 1990 2010. Of these patients, we collected all characteristics re-reviewed pathologic material to confirm NLPHL diagnosis. Seventy-three histologically confirmed cases analyzed...
Neuroendocrine tumours (NETs) are rare in children and limited data available. We aimed to specify tumour patient characteristics investigate the role of genetic predisposition aetiology paediatric NETs. Using Dutch Pathology Registry PALGA, we collected patient- NETs Netherlands between 1991 2013 (N=483). The incidence is 5.40 per one million year. majority were appendiceal (N=441;91.3%). Additional surgery was indicated 89 patients, but performed only 27 these patients. Four out five...
Increasing use of genomic sequencing enables standardized screening all childhood cancer predisposition syndromes (CPS) in children with cancer. Gene panels currently used often include adult-onset CPS genes and without substantial evidence linking them to predisposition. We have developed criteria select relevant for childhood-onset assembled a gene panel applied our 381 candidate genes, which were selected through two in-house (n = 338), literature search 39), by assessing Genomics...
Background & AimsColorectal cancers (CRCs) are rare in adolescents and adults ages 25 years or younger. We analyzed clinical, pathology, molecular features of colorectal tumors from young an effort to improve genetic counseling, surveillance, and, ultimately, treatment outcomes.MethodsWe clinical data tumor tissues 139 (age, ≤25 y; median age, 23 58% male), collected 2000 through 2017; were obtained the nationwide network registry histopathology cytopathology The Netherlands Cancer Registry,...
Nodal marginal zone lymphoma (NMZL) is a rare type of B-cell non-Hodgkin lymphoma. This study assessed the clinical features 56 patients with NMZL in comparison to 46 follicular (FL). Patients and FL had largely similar presentation, but higher disease stage at more frequent abdominal lymphadenopathy bone marrow involvement, showed common transformation into diffuse large (DLBCL) during course disease. Overall survival event-free were for FL, factors associated worse prognosis differed...
Abstract While both molecular and phenotypic data are essential when interpreting genetic variants, prediction scores (CADD, PolyPhen, SIFT) have focused on details to evaluate pathogenicity — omitting features. To unlock the full potential of data, we developed PhenoScore: an open source, artificial intelligence-based phenomics framework. PhenoScore combines facial recognition technology with Human Phenotype Ontology (HPO) analysis quantify similarity at level individual patients as well...
To the Editor: In response to case report by Catts et al,1 we present a second patient with myelodysplastic syndrome (MDS) and same de novo germline RRAS variant. The female was born pulmonary subvalvular valvular stenosis, which surgically corrected at age 3. She had normal growth development attended regular education. presented frequent nosebleeds menorrhagia 15 without probable cause. Two years later she fatigue persistent menorrhagia, low platelets diagnosed MDS monosomy 7. treated an...
<p>Supplementary Table S1 - Cancer gene panel Supplementary S2 Patients with multiple malignancies S3 Tumor types of index patients S4 Candidate genes S5 Overview clinical features and mutations found in category 1 (ID and/or congenital anomalies) S6 2 (cancer twice) S7 3 (family history) S8 4 (adult type cancer) S9 5 (multiple reasons for inclusion) Figure Detection mosaic mutation ARID1A Family tree case #04 #05 #07 #10 #12 #17 #21 #22 S10 #24 S11 #27 S12 #28 S13 #29 S14 #34 S15 #36...
<p>This file contains all mutations identified in patients.</p>
<p>Supplementary Table S1 - Cancer gene panel Supplementary S2 Patients with multiple malignancies S3 Tumor types of index patients S4 Candidate genes S5 Overview clinical features and mutations found in category 1 (ID and/or congenital anomalies) S6 2 (cancer twice) S7 3 (family history) S8 4 (adult type cancer) S9 5 (multiple reasons for inclusion) Figure Detection mosaic mutation ARID1A Family tree case #04 #05 #07 #10 #12 #17 #21 #22 S10 #24 S11 #27 S12 #28 S13 #29 S14 #34 S15 #36...
<p>This file contains all mutations identified in patients.</p>
<div>Abstract<p><b>Purpose:</b> In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the cause is still unknown. We studied yield pathogenic mutations by applying whole-exome sequencing on selected cohort cancer.</p><p><b>Experimental Design:</b> To identify in known novel cancer-predisposing genes, we performed trio-based germline DNA 40 their parents. These were diagnosed had at least one following...
<div>Abstract<p><b>Purpose:</b> In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the cause is still unknown. We studied yield pathogenic mutations by applying whole-exome sequencing on selected cohort cancer.</p><p><b>Experimental Design:</b> To identify in known novel cancer-predisposing genes, we performed trio-based germline DNA 40 their parents. These were diagnosed had at least one following...