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Marjolijn Jongmans

Clinical geneticist and co-Principal Investigator
Childhood cancer predisposition

In recent years there has been increasing awareness for the relevance of genetic predisposition in children with cancer. Cancer underlying syndromes might influence therapy choices, surveillance policies and counseling of relatives. Identifying genetic predisposition also answers a question many parents ask: “Why did my child develop cancer, did I do something wrong?’’ Syndromes predisposing to pediatric cancer are numerous and often challenging to recognize.

I was a consultant in clinical genetics in the RadboudUMC (2012-2018), since 2015 combined with an affiliation at the UMC Utrecht/ Princess Máxima Center for Pediatric Oncology. Starting from June 2018 I have a full appointment at the UMC Utrecht/ Princess Máxima Center. My topic of expertise is diagnostics and counseling of children with cancer predisposition syndromes. My job as a clinical geneticist in the Princess Máxima Center is to coordinate clinical genetic services for children with cancer, including the development of genomics related consent procedures and syndrome specific surveillance guidelines. I am co-principal investigator in the Kuiper group with a focus on the identification of novel childhood cancer predisposing genes and description of the corresponding phenotypes. In November 2013 I defended my PhD thesis entitled ‘Improving the clinical and molecular recognition of pediatric cancer predisposition’ Cum Laude. Since 2013 I have been investigator on several grants: to find novel cancer predisposing genes in children with cancer and features suggestive of cancer predisposition, in children and young adults with colorectal cancer and in children with renal cancer respectively.

 

  • Unraveling facets of MECOM-associated syndrome

    • sep. 2024
    • Parvathy, Venugopal, et al
    • Blood advances
  • Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer

    • aug. 2024
    • Jette J, Bakhuizen, et al
    • The Lancet. Child & adolescent health
  • Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults

    • aug. 2024
    • Anirban, Das, et al
    • Clinical Cancer Research
  • T-cell lymphoblastic lymphoma in constitutional mismatch repair deficiency (CMMRD)

    • mei 2024
    • Emma, Kroeze, et al
    • HemaSphere
  • Molecular analysis of cancer genomes in children with Lynch syndrome

    • apr. 2024
    • Dilys D, Weijers, et al
    • International journal of cancer
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