Research Topics
Species | R P KuiperSummaryAffiliation: Radboud University Nijmegen Medical Centre Country: The Netherlands Publications
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Detail Information
Publications
Germline copy number variation and cancer riskRoland P Kuiper
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands
Curr Opin Genet Dev 20:282-9. 2010..We expect that copy number profiling in unexplained high-risk families will lead to the discovery of additional cancer-predisposing genes and/or mechanisms...
High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomasMaria V Yusenko
Laboratory of Molecular Oncology, Medical Faculty, Ruprecht Karls University, Heidelberg, Germany
BMC Cancer 9:152. 2009..The diagnosis of benign renal oncocytomas (RO) and chromophobe renal cell carcinomas (RCC) based on their morphology remains uncertain in several cases...
Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitutionRoland P Kuiper
Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Hum Mol Genet 12:1661-9. 2003....
IKZF1 deletions predict relapse in uniformly treated pediatric precursor B-ALLR P Kuiper
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Leukemia 24:1258-64. 2010....
The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancerRoland P Kuiper
Department of Human Genetics, Radboud University Nijmegen Medical Center, and Nijmegen Center for Molecular Life Sciences, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Cancer Genet Cytogenet 195:105-11. 2009..Previous mouse models have suggested that the FBXW7 gene may play a role in the predisposition to tumor development. Here we report that disruption of this gene may predispose to the development of human RCC...
Recurrence and variability of germline EPCAM deletions in Lynch syndromeRoland P Kuiper
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Hum Mutat 32:407-14. 2011..We conclude that 3' end EPCAM deletions are a recurrent cause of Lynch syndrome, which should be implemented in routine Lynch syndrome diagnostics...
Integrated use of minimal residual disease classification and IKZF1 alteration status accurately predicts 79% of relapses in pediatric acute lymphoblastic leukemiaE Waanders
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Radboud University Centre of Oncology and Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands
Leukemia 25:254-8. 2011....
Molecular mechanisms underlying the MiT translocation subgroup of renal cell carcinomasK Medendorp
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Cytogenet Genome Res 118:157-65. 2007..Hence the name MiT translocation subgroup of RCCs. In this review several features of this RCC subgroup will be discussed, including the molecular mechanisms that may underlie their development...
Predisposition to colorectal cancer: exploiting copy number variation to identify novel predisposing genes and mechanismsR Venkatachalam
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands
Cytogenet Genome Res 123:188-94. 2008..Finally, we discuss a novel copy number-associated epigenetic mechanism underlying the predisposition to colorectal cancer...
High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progressionR P Kuiper
1Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Leukemia 21:1258-66. 2007....
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1Marjolijn J L Ligtenberg
Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Nat Genet 41:112-7. 2009..Depending on the expression pattern of the neighboring gene that lacks its normal polyadenylation signal, this may cause either generalized or mosaic patterns of epigenetic inactivation...
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcomaMarjolijn C J Jongmans
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Genes Chromosomes Cancer 49:635-41. 2010..Sequence analysis of the SOS1 gene in 20 sporadic ERMS tumors failed to reveal any pathogenic mutations, implicating that SOS1 is not a major player in the development of this tumor outside the context of NS...
Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domainsRoland P Kuiper
Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
Nucleic Acids Res 32:2315-22. 2004..Our data reveal that multiple levels of regulation exist for the MiTF/TFE family of transcription factors, which indicates how these transcription factors may participate in various cellular processes in different tissues...
No evidence for large-scale germline genomic aberrations in hereditary bladder cancer patients with high-resolution array-based comparative genomic hybridizationLambertus A Kiemeney
Department of Urology, Radboud University Nijmegen Medical Centre, P.O. Box 9101, NL-6500 HB Nijmegen, The Netherlands
Cancer Epidemiol Biomarkers Prev 15:180-3. 2006
Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate geneAnita Bonne
Department of Human Genetics, Radboud University Nijmegen Medical Centre and Nijmegen Centre for Molecular Life Sciences, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Cancer Genet Cytogenet 179:11-8. 2007..KCNIP4 belongs to a family of potassium channel-interacting proteins and is highly expressed in normal kidney cells. In addition, KCNIP4 splice variants have specifically been encountered in RCC...
Acquired mutations in TET2 are common in myelodysplastic syndromesSaskia M C Langemeijer
Department of Hematology and Central Hematology Laboratory, Radboud University Nijmegen Medical Centre and Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands
Nat Genet 41:838-42. 2009..We conclude that TET2 is the most frequently mutated gene in MDS known so far...
Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromesGorica Nikoloski
Department of Laboratory Medicine, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands
Nat Genet 42:665-7. 2010..As EZH2 functions as a histone methyltransferase, abnormal histone modification may contribute to epigenetic deregulation in MDS...
The epigenetics of (hereditary) colorectal cancerRamprasath Venkatachalam
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Centre for Oncology, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Cancer Genet Cytogenet 203:1-6. 2010..In this review, we will focus on DNA methylation events as heritable epimutations predisposing to colorectal cancer development...
BTG1 regulates glucocorticoid receptor autoinduction in acute lymphoblastic leukemiaJoost C van Galen
Department of Pediatrics, Laboratory of Pediatric Oncology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Blood 115:4810-9. 2010..Further characterization of this complex as part of the GR regulatory circuitry could offer novel opportunities for improving the efficacy of GC-based therapies in ALL and other hematologic malignancies...
High-resolution genomic profiling of pediatric lymphoblastic lymphomas reveals subtle differences with pediatric acute lymphoblastic leukemias in the B-lineageMargit Schraders
Department of Pathology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Cancer Genet Cytogenet 191:27-33. 2009....
