Research Topics
Species | Marjolijn J L LigtenbergSummaryAffiliation: Radboud University Nijmegen Medical Centre Country: The Netherlands Publications
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Detail Information
Publications
Improving calculation, interpretation and communication of familial colorectal cancer risk: Protocol for a randomized controlled trialNicky Dekker
Scientific Institute for Quality of Healthcare, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Implement Sci 5:6. 2010..Our results may also be useful in improving healthcare in other diseases. TRIAL REGISTRATION: ClinicalTrials.gov NCT00929097...- A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family historyEncarna B Gomez Garcia
Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands
Breast Cancer Res 11:R8. 2009..The aim of the present study was to identify which is the best combination of clinical parameters that can predict whether a UV is deleterious, to be used for the classification of UVs... - A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an exampleLeila Mohammadi
Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands
BMC Cancer 9:211. 2009..Statistical methods have been described in literature but these methods are not always easy to apply in a diagnostic setting... 
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...- Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutationMarjolijn C J Jongmans
Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
Eur J Hum Genet 19:870-4. 2011..In conclusion, this study provides first evidence of an increased risk of cancer in patients with NS and a PTPN11 mutation, compared with that in the general population. Our data do not warrant specific cancer surveillance... - Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patientsRamprasath Venkatachalam
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Int J Cancer 129:1635-42. 2011..Since several of these newly identified candidate genes may be functionally linked to CRC development, our results illustrate the potential of this approach for the identification of novel candidate genes involved in CRC predisposition... - 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... - Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenitaMarjolijn C J Jongmans
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, The Netherlands
Am J Hum Genet 90:426-33. 2012..This shows that revertant mosaicism is a recurrent event in DC. This finding has important implications for improving diagnostic testing and understanding the variable phenotype of DC... - 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... - Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort studyMarlies J E Kempers
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
Lancet Oncol 12:49-55. 2011..We aim to establish the risk of cancer associated with such EPCAM deletions... - 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... 
Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instabilityCarolien M Kets
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Mod Pathol 19:1624-30. 2006..However, tumors with low-level MSI show unfavorable pathological characteristics compared to tumors with no and tumors with high-level MSI. These differences suggest a distinct underlying biology of CRC with low-level MSI...- High sensitivity of both sequencing and real-time PCR analysis of KRAS mutations in colorectal cancer tissueJolien Tol
Department of Medical Oncology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
J Cell Mol Med 14:2122-31. 2010..5% (95% confidence interval [CI] 91.7-97.9%) and 96.5% (95% CI 93.0-98.6%), respectively. The real-time PCR based assay is the method of choice in samples with a tumour cell percentage below 30%... - Occurrence of ocular melanoma thirteen years after skin melanoma: two separate primaries or metastatic disease? A case solved with NRAS and CDKN2A (INK4A-ARF) mutational analysisHeidi V N Küsters-Vandevelde
Department of Pathology C66, Canisius Wilhelmina Hospital, P O Box 9015, 6500 GS Nijmegen, The Netherlands
Virchows Arch 452:331-6. 2008..238C>T, p.Arg80X, (p14) c.404C>T, p.Pro135Leu)) in the tumor samples, but not in the normal control tissue of the patient. We concluded that the uveal melanoma is a metastasis from the cutaneous melanoma removed 13 years before... - INK4-ARF and p53 mutations in metastatic cutaneous squamous cell carcinoma: case report and archival study on the use of Ink4a-ARF and p53 mutation analysis in identification of the corresponding primary tumorWilleke A M Blokx
Department of Pathology, University Medical Center Nijmegen, Nijmegen, The Netherlands
Am J Surg Pathol 29:125-30. 2005..The major limitation was formed by insufficient DNA quality in archival tissue... - CDKN2A (INK4A-ARF) mutation analysis to distinguish cutaneous melanoma metastasis from a second primary melanomaWilleke A M Blokx
Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Am J Surg Pathol 31:637-41. 2007..This case illustrates that molecular analysis can contribute to the sometimes-difficult differentiation between a second primary melanoma and a melanoma metastasis... - Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2Carolien M Kets
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Eur J Hum Genet 17:159-64. 2009..Met1?) should not be considered as a regular pathogenic mutation that leads to a strongly increased cancer risk, though it possibly contributes to a more severe phenotype when combined with a truncating mutation on the other allele... - Allelic imbalance in the diagnosis of benign, atypical and malignant Spitz tumoursMarcory C R F van Dijk
Department of Pathology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
J Pathol 197:170-8. 2002..Further molecular studies will be required to determine whether Spitz tumours and Spitzoid melanomas are unrelated entities, or whether there is a true spectrum of tumour progression... - 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... - Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposisRachel S van der Post
Department of Human Genetics 849, Radboud University Nijmegen Medical Center, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
Virchows Arch 454:25-9. 2009..At present, IHC cannot be used in clinical practice to differentiate between colorectal tissue with and without germline MUTYH mutations... - A brief retrospective report on the feasibility of epidermal growth factor receptor and KRAS mutation analysis in transesophageal ultrasound- and endobronchial ultrasound-guided fine needle cytological aspiratesOlga C J Schuurbiers
Department of Pulmonary Diseases, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
J Thorac Oncol 5:1664-7. 2010..In this study, we aimed to investigate the yield and applicability of molecular testing for KRAS and EGFR mutations in cytologic specimens obtained by EUS or endobronchial ultrasound (EBUS)-guided fine needle aspiration (FNA)...