Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool

Marjolijn C J Jongmans, Jan L C M Loeffen, Esmé Waanders, Peter M Hoogerbrugge, Marjolijn J L Ligtenberg, Roland P Kuiper, Nicoline Hoogerbrugge

Research output: Contribution to journalReview articlepeer-review

108 Citations (Scopus)


Genetic predisposition for childhood cancer is under diagnosed. Identifying these patients may lead to therapy adjustments in case of syndrome-related increased toxicity or resistant disease and syndrome-specific screening programs may lead to early detection of a further independent malignancy. Cancer surveillance might also be warranted for affected relatives and detection of a genetic mutation can allow for reproductive counseling. Here we present an easy-to-use selection tool, based on a systematic review of pediatric cancer predisposing syndromes, to identify patients who may benefit from genetic counseling. The selection tool involves five questions concerning family history, the type of malignancy, multiple primary malignancies, specific features and excessive toxicity, which results in the selection of those patients that may benefit from referral to a clinical geneticist.

Original languageEnglish
Pages (from-to)116-25
Number of pages10
JournalEuropean journal of medical genetics
Issue number3
Publication statusPublished - Mar 2016
Externally publishedYes


  • Abnormalities, Multiple/diagnosis
  • Age Factors
  • Child
  • Child, Preschool
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Neoplasms/diagnosis
  • Phenotype
  • Population Surveillance/methods
  • Risk
  • Syndrome


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