Marjolijn J L Ligtenberg

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. pmc Familial gastric cancer: detection of a hereditary cause helps to understand its etiology
    Ingrid P Vogelaar
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen, 6500HB, The Netherlands
    Hered Cancer Clin Pract 10:18. 2012
  2. pmc DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct
    Aisha S Sie
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    BMC Womens Health 12:12. 2012
  3. doi 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
  4. 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
  5. doi Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors
    Arjen R Mensenkamp
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Electronic address
    Gastroenterology 146:643-646.e8. 2014
  6. doi 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
  7. doi 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
  8. pmc Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility
    Richarda M de Voer
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
    PLoS Genet 12:e1005880. 2016
  9. doi A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
    Robbert D A Weren
    Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
    Nat Genet 47:668-71. 2015
  10. doi 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

Collaborators

Detail Information

Publications31

  1. pmc Familial gastric cancer: detection of a hereditary cause helps to understand its etiology
    Ingrid P Vogelaar
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen, 6500HB, The Netherlands
    Hered Cancer Clin Pract 10:18. 2012
    ..Future research should focus on identifying new genetic predisposing factors for all types of familial gastric cancer...
  2. pmc DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct
    Aisha S Sie
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    BMC Womens Health 12:12. 2012
    ....
  3. doi 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
    ....
  4. 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...
  5. doi Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors
    Arjen R Mensenkamp
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Electronic address
    Gastroenterology 146:643-646.e8. 2014
    ..We conclude that 2 acquired events explain the MMR-deficiency in more than 50% of the MMR-deficient tumors without causal germline mutations or promoter methylation. ..
  6. doi 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...
  7. doi 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...
  8. pmc Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility
    Richarda M de Voer
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
    PLoS Genet 12:e1005880. 2016
    ..In conclusion, we present PTPN12 and LRP6 as novel candidates contributing to the heterogeneous susceptibility to CRC. ..
  9. doi A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
    Robbert D A Weren
    Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
    Nat Genet 47:668-71. 2015
    ..We conclude that a homozygous loss-of-function germline mutation in the NTHL1 gene predisposes to a new subtype of BER-associated adenomatous polyposis and CRC. ..
  10. doi 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...
  11. doi 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...
  12. pmc Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer
    Richarda M de Voer
    Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands
    Sci Rep 5:14060. 2015
    ..Therefore, these data indicate that carriers of deleterious BLM mutations are at increased risk to develop CRC, albeit with a moderate-to-low penetrance. ..
  13. doi Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development
    Robbert D A Weren
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
    J Pathol 236:155-64. 2015
    ..Our data suggest that monoallelic germline deletions in the tumour suppressor gene FOCAD underlie moderate genetic predisposition to the development of polyposis and CRC...
  14. doi More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling
    Aisha S Sie
    Department of Human Genetics 836, Radboud University Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Fam Cancer 13:143-51. 2014
    ..In conclusion, more BC patients preferred DNA-direct over intake consultation prior to BRCA-mutation testing, the majority being strongly to moderately satisfied with the procedure followed, without increased distress...
  15. 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...
  16. doi 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...
  17. doi 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...
  18. 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...
  19. doi Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands Electronic address
    Eur J Med Genet 59:116-25. 2016
    ....
  20. pmc Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
    Ingrid P Vogelaar
    Department of Human Genetics, Radboud University Medical Center, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Fam Cancer 15:289-96. 2016
    ..Our data suggest that a genetic defect in MYD88 results in an impaired immune response and may increase gastric cancer risk. ..
  21. doi Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation
    Ingrid P Vogelaar
    Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein zuid 10, 6525 GA, Nijmegen, The Netherlands
    Fam Cancer 14:89-94. 2015
    ..Additional research in families with IL12RB1 mutations is required to determine whether carriers of IL12RB1 mutations have an increased (gastric) cancer risk. ..
  22. doi 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...
  23. doi Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1
    Rachel S van der Post
    Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands
    Gastroenterology 149:897-906.e19. 2015
    ....
  24. ncbi [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)...
  25. pmc Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
    Rachel S van der Post
    Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands
    J Med Genet 52:361-74. 2015
    ..The impact of gastrectomy and mastectomy should not be underestimated; these can have severe consequences on a psychological, physiological and metabolic level. Nutritional problems should be carefully monitored. ..
  26. doi NRAS-mutated melanocytic BAP1-associated intradermal tumor (MBAIT): a case report
    Willeke A M Blokx
    Department of Pathology, Radboud University Medical Center, P O Box 9101, Nijmegen, The Netherlands
    Virchows Arch 466:117-21. 2015
    ..Work-up should not be limited to analyzing only BRAF protein expression or mutation, since NRAS-mutated MBAITs might be missed. ..
  27. pmc The homogeneous mutation status of a 22 gene panel justifies the use of serial sections of colorectal cancer tissue for external quality assessment
    Jeroen R Dijkstra
    Department of Pathology, Radboud University Medical Center, PO Box 9101, 6500, HB, Nijmegen, The Netherlands
    Virchows Arch 467:273-8. 2015
    ..These data justify the use of serial sections, within a defined segment of a CRC tissue block, for external quality assessment of mutation analysis...
  28. 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...
  29. doi 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...
  30. pmc RAS testing in metastatic colorectal cancer: excellent reproducibility amongst 17 Dutch pathology centers
    Annemarie Boleij
    Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands
    Oncotarget 6:15681-9. 2015
    ..0) for RAS and 100% (144/144; κ-static 1.0) for BRAF. Our study shows that RAS and BRAF mutations can be reproducibly assessed using a variety of testing methods...
  31. doi 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...