Marjolijn J L Ligtenberg

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
  2. pmc Improving calculation, interpretation and communication of familial colorectal cancer risk: Protocol for a randomized controlled trial
    Nicky Dekker
    Scientific Institute for Quality of Healthcare, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Implement Sci 5:6. 2010
  3. pmc A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history
    Encarna B Gomez Garcia
    Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands
    Breast Cancer Res 11:R8. 2009
  4. pmc A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example
    Leila Mohammadi
    Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Cancer 9:211. 2009
  5. doi request reprint Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1
    Marjolijn J L Ligtenberg
    Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 41:112-7. 2009
  6. pmc Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet 19:870-4. 2011
  7. doi request reprint Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients
    Ramprasath Venkatachalam
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Int J Cancer 129:1635-42. 2011
  8. doi request reprint Recurrence and variability of germline EPCAM deletions in Lynch syndrome
    Roland P Kuiper
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 32:407-14. 2011
  9. doi request reprint Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts
    Ingrid P Vogelaar
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6500 HB, The Netherlands
    Hum Mol Genet 22:919-26. 2013
  10. pmc Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita
    Marjolijn 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

Collaborators

Detail Information

Publications27

  1. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
    ..2)...
  2. pmc Improving calculation, interpretation and communication of familial colorectal cancer risk: Protocol for a randomized controlled trial
    Nicky 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...
  3. pmc A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history
    Encarna 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...
  4. pmc A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example
    Leila 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...
  5. doi request reprint Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1
    Marjolijn 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...
  6. pmc Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
    Marjolijn 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...
  7. doi request reprint Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients
    Ramprasath 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...
  8. doi request reprint Recurrence and variability of germline EPCAM deletions in Lynch syndrome
    Roland 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...
  9. doi request reprint Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts
    Ingrid P Vogelaar
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6500 HB, The Netherlands
    Hum Mol Genet 22:919-26. 2013
    ..This finding opens a new pathway to reveal the molecular basis of non-syndromic OFC. Cancer risk among carriers of these mutations needs to be defined...
  10. pmc Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita
    Marjolijn 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...
  11. pmc Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
    Marlies 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...
  12. doi request reprint Germline copy number variation and cancer risk
    Roland 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...
  13. doi request reprint Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer
    Richarda M de Voer
    Department of Human Genetics, Radboud University Medical Centre and Research Institute for Oncology, Nijmegen, The Netherlands
    Gastroenterology 145:544-7. 2013
    ..These results indicate that mutations in BUB1 and BUB3 cause mosaic variegated aneuploidy and increase the risk of colorectal cancer at a young age...
  14. doi request reprint The epigenetics of (hereditary) colorectal cancer
    Ramprasath 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...
  15. ncbi request reprint 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 tumor
    Willeke 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...
  16. ncbi request reprint Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability
    Carolien 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...
  17. ncbi request reprint CDKN2A (INK4A-ARF) mutation analysis to distinguish cutaneous melanoma metastasis from a second primary melanoma
    Willeke 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...
  18. doi request reprint 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 analysis
    Heidi 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...
  19. doi request reprint High sensitivity of both sequencing and real-time PCR analysis of KRAS mutations in colorectal cancer tissue
    Jolien 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%...
  20. doi request reprint EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients
    Marjolijn J L Ligtenberg
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Fam Cancer 12:169-74. 2013
    ....
  21. ncbi request reprint [Tumour examination to detect hereditary colorectal cancer]
    Nicoline Hoogerbrugge
    Afd Genetica, UMC St Radboud, Nijmegen, The Netherlands
    Ned Tijdschr Geneeskd 156:A4982. 2012
    ..For family members and patients diagnosed with CRC more than a year ago, a digital test can be used to determine whether genetic counselling by a geneticist is indicated (www.umcn.nl/verwijzers)...
  22. pmc Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2
    Carolien 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...
  23. ncbi request reprint Allelic imbalance in the diagnosis of benign, atypical and malignant Spitz tumours
    Marcory 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...
  24. doi request reprint Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma
    Marjolijn 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...
  25. doi request reprint Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis
    Rachel 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...
  26. doi request reprint Added value of family history in counseling about risk of BRCA1/2 mutation in early-onset epithelial ovarian cancer
    Marieke Arts-de Jong
    Departments of Obstetrics and Gynaecology, Internal Medicine, Human Genetics, and Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands
    Int J Gynecol Cancer 23:1406-10. 2013
    ..We evaluated clinical data, family history, and risk of identifying BRCA1/2 mutations in women with early-onset epithelial ovarian cancer...
  27. doi request reprint 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 aspirates
    Olga 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)...